bluuebunny/crossref_metadata_2025 huggingface dataset:
The expression of SP263 in muscle invasive bladder carcinoma and its relationship with clinicopathological features
Authors: Bai Yanfeng , Wu Xuesong , Weng Menghan , Han Qingmei , Xu Liming , Chang Chengdong , Teng Xiaodong
Published: May 2024

Context:

The expression of programmed cell death ligand1 (PDL1) is a research hotspot of immunotherapy. The treatment targeted for its expression has shown effectiveness in many tumors.

Objective:

The aim of the study was to determine PD-L1 expression in urothelial carcinoma (UC) and to compare the PD-L1 expression in muscle invasive bladder carcinoma (MIBC) and upper urinary tract urothelial carcinoma (UTUC). The predictive value of CD8+ tumor-infiltrating lymphocyte (TIL) density for the diagnosis of PD-L1 positivity and the association between CD8+ TIL density and prognosis in MIBC were also explored.

Materials and Methods:

Immunohistochemistry (IHC) staining for PD-L1 (SP263), CK5/6, CK20, CD44, and p53 was carried out using a 3D Histech digital scanner to scan and determine CD8+ TIL density.

Results:

122 patients received radical cystectomy, and the overall PD-L1 positivity was 34.43% (42/122). PD-L1 positivity in whole sections was higher than in tissue micro-array (TMA) (all P < 0.05). If multiple lesions were detected simultaneously, the number of patients with positive results increased from 42 to 49. The areas under the curve (AUCs) of CD8+ TIL density for the diagnosis of PD-L1 positivity were 0.739, 0.713, and 0.826. Univariate cox regression analysis demonstrated that high CD8+ TIL density and CD8highPDL1+ were protective factors of overall survival (OS), and multivariate cox analyses showed that only CD8+ TIL density was an independent prognostic factor for OS. For UTUC, the overall PD-L1 expression was 40.0% (16/40).

Conclusions:

Our study results emphasize the importance of detecting PD-L1 expression in multiple tumor lesions from the same patient. In MIBC, CD8+ TIL density could be used as a prognostic marker for predicting the status of PD-L1 expression.
Potential role of significant GATA3 mutation in male breast cancer responding to endocrine therapy
Authors: Xia Yaoxiong , Liu Xiaoling , Li Wenhui , Zhu Yuechun
Published: May 2024

A 60-year-old Chinese male with a hard mass, pressure pain, and ulcerous skin under his left axilla was first diagnosed with apocrine carcinoma, most likely metastasis from breast cancer. PET/CT scan detected multiple bone metastasis and enlarged lymph nodes at left axilla, mediastinal area 7, and left pulmonary hilus. Lumpectomy was performed to remove the mass followed by chemotherapy and radiotherapy against focal bone metastasis, left axillary lesion, and left subcutaneous chest wall. PET/CT examination showed progressive disease after the completion of the treatments. Two nontender hard nodules were noticed on the patient's left upper arm and multiple immobile nodules were palpated under his left axillary skin. Immunohistochemistry (HER2++, ER+, PR+, AR-) of the biopsy tissue combined with histopathology indicated invasive ductal carcinoma with neuroendocrine differentiation. Metastatic Luminal B subtype breast cancer was preferred. Anti-estrogen endocrine therapy was then performed and PET/CT scan showed partial remission after one month's fulvestrant administration. Two significant somatic mutations, AR R616H and GATA3 S408Afs*99, were detected in the biopsy tissue by next-generation sequencing. GATA3 is associated with estrogen receptor signaling and was identified as a driver gene of female breast cancer. However, the function of GATA3 in male breast cancer remains controversial. Report of this case hopefully will contribute to exploring the role of GATA3 mutation in molecular mechanisms and endocrine therapy of male breast cancer.
Phaeohyphomycosis
Authors: Dhawan Pallavi , Singla Nidhi , Kundu Reetu , Gulati Neelam , Attri Ashok K. , Chander Jagdish
Published: May 2024

Objectives:

Phaeohyphomycosis refers to infections caused by phaeoid/dematiaceous or darkly pigmented fungi. This study was undertaken to further increase our knowledge about the incidence of phaeohyphomycosis and its causative agents.

Materials and Methods:

The present study was conducted over a period of one and a half years (January 2018–June 2019) on specimens received from patients with varied clinical manifestations ranging from superficial infections, subcutaneous cysts, pneumonia, brain abscess to a disseminated infection. These specimens were processed in the Department of Microbiology for potassium hydroxide (KOH) examination and culture and in Pathology for cytology/histopathological examination (HPE). All specimens positive on direct examination for dark grey, brown or black fungi were included in the study.

Results:

A total of 20 specimens were confirmed as phaeohyphomycosis. Most of the patients belonged to the age group of 41 to 50 years. Male: Female ratio was 2.3:1. Trauma was the most common risk factor. Spectra of the isolated fungal pathogens comprised of Bipolaris species, Exophiala species, Curvularia geniculata, Phialemonium species, Daldinia eschscholtzii, Hypoxylon anthochroum, Phaeoacremonium species, Leptosphaerulina australis, Medicopsis romeroi, Lasiodiplodia theobromae, Eutypella species, Chaetomium globosum, Alternaria species, Cladophialophora bantiana and 2 unidentified dematiaceous fungi. Recovery from phaeohyphomycosis was seen in 12 patients, 7 were lost to follow up and one patient succumbed to the illness.

Conclusion:

Infections caused by phaeoid fungi can no longer be viewed as rare. In fact, phaeohyphomycosis can have myriad of presentations spanning from mild cutaneous infections to fatal brain disease. Therefore, a high index of clinical suspicion is needed to diagnose such infections. The primary treatment modality remains surgical removal of the lesion in cutaneous or subcutaneous infections however disseminated disease with a guarded prognosis requires aggressive management.
Biphenotypic sinonasal sarcoma—A recently described entity with many mimics
Authors: Ingle Abhijeet , Mahendra Nagendra , Reddy G. Venu Gopal
Published: May 2024

Biphenotypic sinonasal sarcoma (BSNS) is a recently described, low-grade, slow-growing sarcoma with neural and myogenic features with exclusive location in sinonasal track and characteristic PAX3- MAML3 gene fusion. Differentiating this tumor from its commoner mimics needs knowledge of this entity to avoid over treatment. This tumor has unique morphology, clinical course, and genetics. We report this in a 47-year-old female who was diagnosed with such a rare, solitary fibrous tumor—hemangiopericytoma (HPC-SFT) on limited initial biopsy. On subsequent excision, typical morphology and immunohistochemistry helped to clinch the diagnosis.
Exploring the role CD163-labeled TAMs and FOXP3-labeled Tregs in different types of breast cancer
Authors: Shash Lobna S. , M. Kamal Khaled A. , Abd Raboh Nermine M.
Published: May 2024

Context:

Tumor immune microenvironment (TIME) is heterogeneous and dynamic. It exerts bimodal pro and antitumor effects. Among the TIME contributors, TAMs and Tregs are condemned as cancer cells allies rather than enemies; however, such contribution is not universally equal in all tumors.

Aims:

We aimed to explore and compare TAMs and Tregs in various breast cancers and link such findings to pathologic prognostic indices.

Settings and Design:

This was a retrospective study.

Methods and Materials:

Archival blocks of 108 breast cancers were immunohistochemically studied for CD163 and FOXP3 in tumor stroma (TS) and specialized DCIS periductal stroma. FOXP3 was additionally evaluated in tumor cells. CD163 and FOXP3 expressions were compared with different histopathological prognostic categories for statistical analysis.

Statistical Analysis Used:

Analysis of data was done using the Chi-Square test.

Results:

Both CD163+ TAM and FOXP3+ Tregs. showed statistically significant association with high tumor grade, T stage, multifocality and hormone negativity. Synchronous expression was consistent for both markers in almost all compared parameters, dual high expression of both CD163 and FOXP3 yielded additional statistically significant association with lymphovascular invasion (LVI). Periductal stromal CD163 and FOXP3 high expression showed statistically significant association with DCIS. FOXP3 tumor cells expression was similar to TS FOXP3 but additionally showed significant association with LVI and N stage; moreover, Her-2 over-expressing breast cancer was significantly associated with low FOXP3+ tumor cells.

Conclusions:

Breast cancer TS TAMs and Tregs. abundance reflects unfavorable prognosis in various breast cancers particularly hormone negative cancers.
Isolated gastrointestinal histoplasmosis
Authors: Acharyya Bhaswati C. , Acharyya Saumyabrata , Chakrabarty Hema
Published: May 2024

Gastrointestinal (GI) histoplasmosis usually occurs as a part of disseminated histoplasmosis in immunocompromised or elderly subjects. Isolated histoplasmosis involving the GI tract in an immunocompetent host is very rare. It is also not considered as an etiology for chronic abdominal pain in children. Here we present an 8-year-old boy with abdominal pain and weight loss who underwent treatment for tuberculosis but on reinvestigation was diagnosed as GI histoplasmosis. He responded well to treatment and achieved good catch up growth.
Malignant gastrointestinal neuroectodermal tumor-A case report
Authors: Harshavardhini S. , Saishalini C. N. , Pavithra V. , Shah Niket M. , Sankar S.
Published: May 2024

Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare neoplasm with unknown etiology. It was previously referred to as Clear cell sarcoma of gastrointestinal tract. This tumor is characterized by a higher rate of local recurrence and metastasis. Due to its aggressive clinical course, distinguishing this entity from various other mimickers is very essential. Herein, we present a case of malignant GNET in a 33-year-old male patient.
Mesonephric adenocarcinoma in the uterine corpus
Authors: Tang Xiao , Li Lei , He Yanmei
Published: May 2024

Mesonephric adenocarcinoma (MNA) is a rare malignancy arising from the mesonephric remnant of the female reproductive tract, typically found in the cervix. MNA is uncommon in the uterine corpus, only 33 cases have been described in the literature. A 55-year-old postmenopausal woman presented with pink vaginal discharge and bilateral hip pain for 2 months, with the help of histopathologic observation and immunohistochemical staining, a diagnosis of “MNA” was made. The tumor invaded the whole layer of myometrium without endometrium involvement, mesonephric remnants and hyperplasia of the mesonephric duct were also found at the periphery of the neoplasm. After the operation, the patient was treated with 3 cycles of chemotherapy. The patient was followed for 6 months with disease. Further experience to diagnose and cure this rare tumor is warranted.
SMARCB1 (INI-1) – Deficient sinonasal carcinoma
Authors: Vasudevan Geetha , Srinivas Srilatha Parampalli , Nayal Bhavna , Jayaprakash Padmapriya , Ramaswamy Balakrishnan
Published: May 2024

SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare, poorly differentiated carcinoma defined by complete loss of tumor suppressor gene SMARCB1 (INI-1) within the neoplastic cell nuclei demonstrated by the immunohistochemical stain. SMARCB1 (INI-1) gene inactivation has been implicated in the pathogenesis of a diverse group of malignant neoplasms that tend to share “rhabdoid” morphology. SMARCB1 (INI-1)-deficient sinonasal carcinoma was first reported by Agaimy et al. in 2014. These tumors are often basaloid with focal rhabdoid differentiation, prominent necrosis, increased mitotic activity, and aggressive behavior. Other than being INI-1 and NUT negative, they are positive for pancytokeratin and express variable immunoreactivity for squamous markers like p63 and neuroendocrine markers like synaptophysin. Most patients present with locally advanced disease and hence a combination of chemotherapy, radiotherapy, and surgery is usually recommended.
Extranodal Follicular dendritic cell sarcoma presenting as a rectal polyp
Authors: Gurung Niteeka , Mukherjee Urmi , Khurana Anuj
Published: May 2024

Extranodal follicular dendritic cell sarcoma (ENFDCS) is a rare hematolymphoid tumor, masquerading as soft tissue sarcoma on initial histological examination. So, for its confirmation, the application of immunohistochemistry (IHC) is of paramount importance. Over the years there has been a major shift in the demography of follicular dendritic cell sarcoma (FDCS), with a rise in the number of extranodal cases. Herein we report a case of ENFDCS presenting as a rectal polyp, who had a history of intermittent bleeding per rectum and passage of fleshy mass while defecation. As these tumors share an overlapping morphology with other spindle cell tumors and can occur at unpredictable locations, they pose a diagnostic challenge, especially for young pathologists.
Fibrolamellar hepatocellular carcinoma presenting as cholestatic jaundice
Authors: Singh Arshdeep , Goyal Shriya , Mehta Varun , Kakkar Chandan , Narang Vikram , Sood Ajit
Published: May 2024

Fibrolamellar hepatocellular carcinoma is a rare primary hepatic tumor that usually occurs in youth. The common presenting features are vague abdominal pain, nausea, vomiting and weight loss. We present a case report of a young male who presented with cholestatic jaundice and on evaluation was diagnosed to have fibrolamellar hepatocellular carcinoma. He underwent successful surgical resection of the tumor. In young individuals presenting with unexplained cholestasis, fibrolamellar hepatocellular carcinoma should be considered.
Clinical utility of activated partial thromboplastin time clot waveform analysis and thrombin generation test in the evaluation of bleeding phenotype in Hemophilia A
Authors: Dave Rutvi G. , Geevar Tulasi , Mammen Joy J. , Vijayan Ramya , Mahasampath Gowri , Nair Sukesh C.
Published: May 2024

Context:

Hemophilia A is classified as mild, moderate, and severe based on Factor VIII levels (FVIII). Clot-based assays only detect initiation of thrombin generation, hence FVIII levels may not accurately predict the bleeding risk in all hemophilia patients. The entire process of thrombin generation as measured by global hemostasis tests like activated partial thromboplastin time clot waveform analysis (APTT CWA) and thrombin generation test (TGT) may reflect the actual bleeding phenotype.

Aims:

To assess the utility of TGT and CWA as a screening tool to identify bleeders and to evaluate the bleeding phenotype in Hemophilia A.

Settings and Design:

Prospective, observational study of 147 consecutive patients referred for coagulation workup.

Subjects and Methods:

Bleeding assessment tool was used to identify bleeders. Patients were classified as severe and nonsevere bleeders based on clinical criteria. TGT was performed by calibrated automated thrombogram, CWA by photo-optical coagulometer and factor levels by one stage clot-based assays.

Statistical Analysis Used:

The Kruskal-Wallis test with post-hoc analysis was done to examine the difference in CWA/TGT parameters amongst hemophilia classified by FVIII levels. Receiver operating characteristic (ROC) analysis was performed to estimate the diagnostic accuracy of CWA and TGT in discriminating between clinically severe vs nonsevere bleeders.

Results:

Using ROC derived cut-offs of min1, min2 and peak height of thrombin (PH), the sensitivity (min1:91.67%, min2:91.67%, PH: 97.22%, FVIII: 86.11%) and specificity (min1:100%, min2:100%, PH: 90.91%, FVIII: 90.91%) of CWA/TGT was superior to FVIII to distinguish between clinically severe vs nonsevere bleeders. Phenotypic heterogeneity of bleeding severity was identified in our study population. Clinical severity correlated with CWA/TGT parameters instead of FVIII levels.

Conclusions:

CWA and TGT are more effective tools than conventional factor assays to identify clinically severe bleeders and tailor prophylaxis as per bleeding phenotype.
Primary cutaneous apocrine carcinoma
Authors: Chadha Seema , Kumar Rakesh , Singhal Sanjeev , Ruhela Shilpa
Published: May 2024

Primary cutaneous apocrine carcinomas are rare cutaneous adnexal neoplasm with less than 100 cases reported in the literature. The tumor arises in areas rich in apocrine glands particularly axilla, modified apocrine glands such as ceromucinous and Moll's glands. Most of these carcinomas are indolent and slowly growing but few rapidly progressive and extremely aggressive? cases have also been reported. Wide local excision with clear margins and sentinel lymph node biopsy is standard treatment of choice. This case was of much interest from the diagnostic point of view both microscopically as well as immunohistochemically. We report a case of 46-year-old man who presented to our hospital with an ulcerated painless nodular mass in his right axilla. With combined use of microscpic features, special stains and immunohistochemical examination the case was correctly diagnosed as primary cutaneous apocrine carcinoma.
Endocrine mucin-producing sweat gland carcinoma of the peno-scrotum with systemic metastases
Authors: Shah Milap , Aman Ambreen , Srinivaas K , Gudipati Archana , Chavali Pooja
Published: May 2024

Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare adnexal tumor with a predilection for the skin of the eyelid. It has also been reported in other areas of the face. Extra facial location has rarely been reported. They are twice as common in the females as compared to men and frequently affect the elderly between 50 and 80 years of age. It is a low-grade carcinoma with no reported cases of metastases, although a few cases with recurrences have been reported. Since it was first described by Flieder et al. in 1997, fewer than 60 cases have been reported in the literature. We describe one such case of EMPSGC in an adult male occurring at an unusual location, the peno-scrotal junction with systemic metastases to bilateral inguinal and iliac lymph nodes, multiple bones, and pancreas. Unlike previously reported cases, our patient worsened rapidly and succumbed to the disease six months after initiation of chemotherapy and radiotherapy. To the best of our knowledge, this is the first reported case of its kind in modern published literature.
Strongyloidiasis duodenum
Authors: Pandey Rimi , Agarwal Padam Kumari , Katiyar Prashant
Published: May 2024

Strongyloides stercoralis is an intestinal nematode that infects humans, percutaneously and has a complex life cycle. We report a case of a thirty year old male presenting with chief complaints of profuse watery diarrhoea, abdominal fullness, loss of appetite, creepy abdominal pain and low-grade fever for the last one month. He was on corticosteroids for systemic sclerosis. Endoscopy showed thickened and oedematous duodenal folds with pinpoint areas of bleeding and multiple ulcerations on the duodenal mucosa. Histopathologial examination of duodenal biopsy revealed infestation by Strongyloides stercoralis in the duodenum, the duodenal mucosal glands were occupied by various parts of parasite. The patient was successfully treated and had uneventful recovery.
Clinical value of the detection of EGFR gene mutations in pleural effusion cell blocks among patients with non-small-cell lung cancer
Authors: Zhu Yijun , Zhu Fang , Wang Lixia , Zhai Xiaoli , Shan Xiaoyun
Published: May 2024

Objective:

To evaluate the clinical value of epidermal growth factor receptor (EGFR) detection in pleural effusion cell blocks among patients with non-small-cell lung cancer (NSCLC).

Methods:

From July 2016 to September 2018, EGFR gene mutations in 40 lung tumor tissue samples and pleural fluid samples from NSCLC patients in Jinhua Municipal Central Hospital were assessed by the amplification refractory mutation system method. The EGFR results of the two types of samples were compared using the paired Chi-square test, and the mutation positive rates in EGFR exons 18, 19, 20 and 21 were compared between the two types of specimens using the four-grid Chi-square test.

Results:

Among the 40 tissue samples and pleural effusion samples, 21 and 18 cases of EGFR mutations were detected, respectively, and the mutation positive rates were 52.5% and 45%, respectively. The κ value of the consistency test of the two specimens was 0.851. There were no significant differences in the mutation positive rates in EGFR exons 18, 19, 20, and 21 between the two types of specimens.

Conclusion:

The EGFR results of pleural fluid and tissue samples were in good agreement. Therefore, we can use pleural fluid samples to detect EGFR mutations to guide tyrosine kinase inhibitor treatment for NSCLC patients in whom tumor tissue samples cannot be obtained.
Extra-adrenal peripheral neuroblastic tumors
Authors: Shankaralingappa Sunitha , Patra Sanjiban , Gami Amisha , Trivedi Priti , Chalaliya Akshay Kumar
Published: May 2024

Background:

Peripheral neuroblastic tumors arise from the sympathoadrenal lineage of the neural crest. They have been classified according to the International Neuroblastoma Pathology Committee (INPC) into Four categories according to International Neuroblastoma Pathology Committee (INPC): a) Neuroblastoma (NB) b) Ganglioneuroblastoma (GNB), nodular c) Ganglioneuroblastoma, intermixed, and d) Ganglioneuroma (GN). Because of the rarity of extra-adrenal peripheral neuroblastic tumors, limited information is available regarding the chemotherapy of NB and GNB. A few case reports or case series with a small number of patients have been documented in the literature.

Aim:

To describe the clinicopathological characteristics of extra-adrenal peripheral neuroblastic tumors. Materials and

Methods:

Clinical, histopathological, and immunohistochemistry (IHC) findings of 18 cases were retrieved. Immunohistochemistry at the time of diagnosis was performed using Ventana Benchmark XT. The mean value was calculated using the Microsoft Office Excel 2019 software.

Results:

The posterior mediastinum was the most commonly affected extra-adrenal site in our study. Neuroblastoma consisted of eight cases (six in children, two in adults), of which four cases were poorly differentiated and the other four cases were differentiating. Two cases had favorable histology. The bone marrow and cervical lymph node metastasis were documented. Of the four GNB cases, one patient developed bone metastasis. All patients of NB and GNB received combination chemotherapy. One out of six GN patients presented with a large retroperitoneal mass encasing the aorta and renal vessels, mimicking a sarcoma.

Conclusion:

Extra-adrenal peripheral neuroblastic tumors do not pose any diagnostic issue in adequate tissue sampling. In limited material, immunohistochemistry is needed. The chemotherapy regimen has not been standardized due to rarity. Further molecular testing and targeted therapy may be of help in the future.
Glomerular C4d deposition in proliferative glomerular diseases
Authors: Raman Sarojini , Mishra Pallavi , Panigrahi Ansuman , Rout Nikunj K. , Dash Kanakalata
Published: May 2024

Introduction:

The aim of this study was to evaluate the immunohistochemical expression of C4d in native renal biopsies of proliferative glomerular diseases, complement pathways in these diseases, and assess the relationship of C4d with histological and clinicopathological parameters, other complement proteins, and immunoglobulin markers.

Methods:

This cross-sectional study was conducted during the year 2018-19 involving 107 native renal biopsies with histologically diagnosed cases of proliferative glomerular diseases. C4d immunohistochemical evaluation of renal tissue sections was performed using polyclonal antihuman C4d as the primary antibody. Patients were classified as positive and negative groups based on their glomerular C4d deposition.

Results:

The overall prevalence of C4d positivity was 80.4% in proliferative glomerular diseases ranging between 60.0% in C3 glomerulonephritis to 92.9% in membranoproliferative glomerulonephritis. Mixed capillary and mesangial deposition were noted in all cases of proliferative glomerulonephritis. Classical pathway was dominantly involved in all glomerular diseases except C3 glomerulonephritis and IgA nephropathy. Multivariate logistic regression analysis revealed that glomerular IgG staining (aOR: 5.86, 95% CI: 1.26–27.14) and IgM staining (aOR: 3.90, 95%CI: 1.07–14.18) were significantly associated with C4d positivity.

Conclusion:

C4d staining along with immunoglobulin markers such as IgG and IgM and complement proteins can be useful in delineating different complement activation pathways in glomerular diseases and understanding the disease pathogenesis.
Spontaneous aortic rupture
Authors: Vaideeswar Pradeep , Kundu Sarit , Singaravel Saranya , Tyagi Shashank
Published: May 2024

Acute aortic syndromes comprise a heterogeneous group of life-threatening disorders, characterized by acute-onset chest or back pain with or without cardiovascular collapse. The major entities include acute aortic dissection, penetrating atherosclerotic ulcer, and intramural hematoma. Spontaneous rupture of the aorta is an additional, rare cause of this syndrome, which frequently leads to sudden cardiac death. This is a report of two cases of this uncommon entity with detailed pathological analysis.
A rare case of malignant eccrine spiradenoma mimicking carcinosarcoma
Authors: Kundu Ayan , Mondal Tanima R. , Ghosh Soma , Dey Soumit , Mahapatra Arijit S.
Published: May 2024

Malignant eccrine spiradenoma is an extremely rare neoplasm of adnexal origin. It almost always originates from a preexisting long standing eccrine spiradenoma. We present a case of malignant eccrine spiradenoma arising from benign counterpart and having both carcinomatous and sarcomatous differentiation. Here we present a case of a 46 years old lady who presented with a long standing small nodule on her left leg of 7 years' duration with suddenly increase in size. Grossly the mass was partly solid and partly cystic measuring 11.5 cm in maximum dimension with cystic area forming the deeper plane. On microscopy, the superficial dermis showed well demarcated lobules of benign eccrine spiradenoma. Deeper dermis showed tumor cells with features of malignant transformation having both carcinomatous and sarcomatous component. After wide local excision patient is now doing well. The diagnosis of malignant eccrine spiradenoma requires a thorough histopathological examination of the lesion and requires finding a focus of benign spiradenoma within or adjacent to malignant tumour. Wide local excision and close follow-up for early detection of recurrence and metastasis is the mostly recommended management modality.
Therapy-related acute myeloid leukemia with CBFB/MYH11 in a patient with ovarian cancer after exposure to chemotherapy
Authors: Yang Xinhong , Liu Qiuxia , Zhang Rongjuan , Yang Xiaofeng , Wang Lihong , Zhang Zhihua , Li Yan , Lin Li
Published: May 2024

In patients with acute myeloid leukemia (AML), about 25%–35% of patients have a history of other hematological diseases, 10% of patients have a history of malignant tumors in other systems and have received cytotoxic treatment including chemotherapy and/or radiation, and the disease is categorized as therapy-related acute myeloid leukemia (t-AML) according to the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues. Two subsets of t-AML are generally recognized based on the nature of prior treatments and the characteristics of the disease. The most common type occurs after exposure to alkylating agents and/or radiation, with a latent period of 5 to 10 years. The less common type occurs after treatment with agents targeting topoisomerase II and has a shorter latent period of 1 to 5 years. The majority of these cases are associated with balanced recurrent chromosomal translocations frequently involving MLL at 11q23, RUNX1 at 21q22, or CBFB at 16q22 and morphologically resemble the features of de novo AML associated with these translocations. Here, we describe a rare case of a 48-year-old female with ovarian cancer who developed AML with CBFB/MYH11 fusion, less than two years after exposure to paclitaxel and carboplatin chemotherapy.
Synchronous colonic adenocarcinoma and well-differentiated neuroendocrine tumor arising in a mature cystic teratoma of ovary — rare presentation in a postmenopausal woman with literature review
Authors: Ayyanar Pavithra , Begum Jasmina , Rout Subhashree , Mishra Pritinanda
Published: May 2024

Mature cystic teratoma of the ovary (MCT) is rare in pre and postmenopausal age patients. Among various types of malignant transformation in MCT, adenocarcinoma is a rare subtype. Dual type tumors arising from ovarian MCT have been described in the literature very rarely. A 47-year-old postmenopausal female patient presented with abdominal mass for ten years. The radiological opinion was a dermoid cyst. Grossly, a 22 × 20 × 10 cm, unilocular cystic left ovarian mass with intact capsular surface and focal thickened wall measured 3.0 cm. Microscopically, it showed components of all three germ cell layers. In addition, features of colonic type adenocarcinoma and well-differentiated neuroendocrine tumor (carcinoid) were noted and confirmed by immunohistochemistry (IHC). We report this rare case of synchronous malignancy arising from an ovarian MCT with a clinicopathological review.
Experimental study on the effect of Si and P ion content in SiO2 exposure environment on the degree of pulmonary fibrosis
Authors: Hang Wenlu , Zhao Jie , Li Yujie , Wang Lin , Li Haiquan
Published: May 2024

Background:

Silicosis is a public health issue in developing countries for long and cannot be completely cured.

Objective:

To study the changes of ion content with TNF-α and TGF-β expression in alveolar lavage fluid (BALF) at different time points in rats exposed to silica and to investigate their correlation with pulmonary fibrosis.

Methods:

42 rats were randomly divided into control group (n = 12) and exposure group (n = 30). Tissues of right lower lungs were collected and fixed for further Hematoxylin-eosin (HE) and Masson staining. We collected the BALF to examine the inflammatory cytokines of TNF-α and TGF-β and measured the ion contents in BALF.

Results:

The increase of TNF-α level was earlier than TGF-β. The content of silica in BALF was significantly increased after exposure and reached the maximum at 7th day, similar to the curve of cytokine TGF-β level. However, phosphorus ions increased quickly after gradual decline of silicon ion and roughly proportional to the curve of degree of fibrosis.

Conclusions:

Crystalline silica exposure can cause changes in TGF-β and TNF-α in BALF and accompanied with fibrosis and ions content variation. The abnormal expression of phosphorus ion may have significance in the occurrence and development of silicosis.
Role of CD44 as cancer stem cell marker in triple-negative breast cancer and its association with histological grade and angiogenesis
Authors: Tomar Reena , Rakheja Garima , Verma Nidhi , Thakur Shruti , Khurana Nita , Ghuliani Deepak
Published: May 2024

Introduction:

Cancer stem cells (CSC) within the tumors play a central role in tumorigenesis. It is, thus, of utmost importance to identify these cells to develop effective cancer therapy. Triple-Negative Breast Cancer (TNBC) is an aggressive molecular subtype of breast cancer associated with poor patient outcomes. The role of CD44 immunohistochemistry (IHC) as a putative CSC in breast carcinomas, particularly of the TNBC-subtype is ambiguous, with equivocal results.

Aims and Objectives:

The present study aims to assess the role of CSC in breast carcinoma by immunohistochemical analysis of CD44 expression in TNBC. The association of TNBC expressing CSC with histological grade as well as with angiogenesis (using CD34 IHC) has been studied.

Materials and Methods:

Biopsy samples from 58 patients with infiltrating ductal carcinoma, NST were studied. The histology of the tumor was sub-classified into grades 1–3. Based on immunohistochemical analysis (ER, PR, HER2/Neu), the cases were divided into TNBC and NTNBC groups. The tissue sections were also subjected to analysis for CD44 to identify the CSC-phenotype and CD34 to evaluate angiogenesis, to determine the microvascular density (MVD).

Results:

Out of the 58 cases in the study, 28 were TNBC and 30 were NTNBC. CSC phenotype (CD44 positive) was expressed significantly higher in the TNBC (78%) versus the NTNBC (53%) (p-value 0.043). The MVD estimated using CD34 IHC was lower in the TNBC group in our study, though the difference was not statistically significant. A larger proportion of cases in TNBC showed a higher histological grade (35%) in comparison to NTNBC (27%). However, statistically, it was not significant.

Conclusion:

Our study demonstrated that CD44 as a CSC marker is seen significantly more in the TNBC category of invasive ductal carcinomas. Further large-scale studies, to confirm these findings, will be of potential therapeutic and prognostic value.
GATA Binding Protein 3 (GATA-3) expression evaluation as prognostic factor in breast cancer and its relationship with other immunemarkers
Authors: Tabriz Hedieh M. , Farmani Elahe , Nazar Elham , Javadi Arezoo E.
Published: May 2024

Introduction:

Breast cancer is the most frequent cancer in which the mortality rate could be decreased by proper management. The GATA3 transcription factor is one of the most frequently mutated genes in breast cancer.

Materials and Methods:

We studied the immunohistochemical (IHC) expression of estrogen and progesterone receptor, human epidermal growth factor receptor 2, and GATA-3 in 166 radical/partial mastectomy specimens having different histologic grades and stages of breast carcinoma. All samples were obtained from the pathology department of Sina hospital in Tehran-Iran from 2010 to 2016.

Results:

There was a direct relationship between the luminal subtype carcinoma and higher GATA-3 expression (P-value: 0.001) and between triple-negative carcinoma and lower GATA-3 expression (P-value: 0.001). Moreover, there was a direct relationship between the metastasis rate and the tumor's grade with GATA-3 staining (P-value: 0.000 and 0.001, respectively).

Conclusion:

GATA-3 expression is related to the histopathologic and prognostic factors. GATA3 can be introduced as an important predictor in breast cancer patients.
Xanthoceraside induces cell apoptosis through downregulation of the PI3K/Akt/Bcl-2/Bax signaling pathway in cell lines of human bladder cancer
Authors: Chai Xue , Zhang Jian-Wu , Li Sheng-Hui , Cheng Qing-Shui , Qin Ming-Ming , Yang Chun-Yan , Gao Jia-Lin , Huang Hou-Bao
Published: May 2024

Background:

Xanthoceraside is a component obtained in the husks of Xanthoceras sorbifolia Bunge. Series of researches proved that xanthoceraside had functions of anti-inflammation and anti-tumor effects. However, the mechanisms of xanthoceraside against bladder cancer are unclear. Accordingly, we proposed to investigate xanthoceraside's impacts and potential mechanisms in cells of bladder cancer.

Methods:

By using the CCK-8 assay, we measured the viability of cells. With the use of 4,6-diamidino-2-phenylindole (DAPI) staining, we examined nuclear fragmentation and chromatin condensation in the nuclei of apoptotic cells. By using flow cytometry, we measured cell apoptosis. By using Western blotting, we tested the expressions of Caspase-9, Caspase-8, Caspase-3, Bcl-xL, P53, and PI3K/Akt/Bcl-2/Bax.

Results:

The proliferation of cell lines of human bladder cancer T24 and 5637 was suppressed by xanthoceraside significantly in a time- and concentration-dependent way. When cell lines 5637 and T24 were incubated as the xanthoceraside dose increased, the rates of cell apoptosis were upregulated, which was dependent on dose. According to further analysis, xanthoceraside induced apoptosis by upregulating Bax and downregulating the expression of Bcl-xL and Bcl-2. However, xanthoceraside did not change the expression of Caspase-9, Caspase-8, and Caspase-3. Interestingly, xanthoceraside also downregulated the expression of p-PI3K and p-Akt, and upregulated P53.

Conclusions:

Xanthoceraside induces cell apoptosis through downregulation of the PI3K/Akt/Bcl-2/Bax signaling pathway in cell lines of human bladder cancer.
Immunophenotypic characterization of normal and abnormal plasma cells in bone marrow of newly diagnosed multiple myeloma patients
Authors: Awasthi Namrata Punit , Mishra Sridhar , Gupta Gaurav , Kumari Swati , Bajpayee Abhishek , Singh Pradyumn , Husain Nuzhat
Published: May 2024

Background:

Identification of plasma cells into abnormal (APC) and normal (NPC) compartments is of utmost importance in flow cytometric (FC) analysis of multiple myeloma (MM) and related plasma cell dyscrasias for diagnosis, prognosis, and follow-up. No single phenotypic marker is sufficient to distinguish NPC from APC.

Materials and Methods:

43 newly diagnosed cases of MM and 13 controls were included in the study. Bone marrow (BM) samples from the 2nd pass were processed on the same day with antibodies against CD38, CD138, CD19, CD81, CD45, CD117, CD200, CD56, cytoKappa, and cytoLambda in a 4-color experiment with CD38 and CD138 as gating antibodies.

Results:

Mean APC% in cases was 96.5%. The expected Immunophenotype (IP) of APC which is CD19-/56+/45-/81-/117+/200+ was found in only 13/43 MM cases. In 30/43 cases, APC revealed deviation from expected IP either for single or a combination of markers. Sensitivity for APC detection was highest for CD19 (95.2%) followed by CD56 (90.4%) and CD81 (83.7%). Specificity was highest for CD19 (100%), CD56 (100%), and CD81 (100%) followed by CD117 (92.3%). Combination of markers with maximum sensitivity to detect APC (97.6%) was CD81- or CD19- and CD200+ or CD56+ (two markers); and for NPC (92.3%) was CD81+ and CD19+ and CD56- (three markers).

Conclusion:

Plasma cell IP can be highly variable with multiple minor subpopulations in both cases and normal controls. CD 19 and CD56 are highly informative markers for a 4-color experiment. Assessment of multiple markers in an 8–10 color experiment is more informative but the lack of advanced flow cytometers should not limit the use of FC in a 4-color approach. Our results emphasize that even basic equipment with limited fluorochrome can provide meaningful information if used appropriately.
Ectopic pancreas, gastric, duodenal and colonic tissue in a case of persistent umbilical discharge
Authors: Ayyanar Pavithra , Tripathy Bikash B. , Pati Akash B. , Mohanty Manoj K. , Sable Mukund
Published: May 2024

One of the typical complaints in the pediatric population is umbilical discharge. Among the congenital causes, remnants of omphalomesenteric duct or patent urachus are often detected. On a few occasions, multiple types of ectopic tissue are present. We describe histopathologic findings of two cases reported recently at our center as pediatric umbilical lesions with associated ectopic tissue. Histopathology of the excised mass confirmed the patent omphalomesenteric duct with ectopic gastric, duodenal, and colonic mucosa and pancreatic tissue in two patients with the clinical presentation of umbilical discharge. There were no associated congenital anomalies in these patients. The presence of multiple ectopic gastrointestinal mucosa and pancreas in the umbilical mass is unusual. Herein, we report these cases because of its rarity, multiple ectopic tissues, and reviewing the literature of the reported cases of multiple ectopic tissues.
Septic pulmonary embolism: Is it an underestimated diagnosis?
Authors: Kolhe Swati , Vaideeswar Pradeep
Published: May 2024

Background:

Non-thrombotic pulmonary embolism, an uncommon entity, is defined as the embolization of tissues, microorganisms, air, or foreign material. One subset in this non-thrombotic category is septic pulmonary embolism (SPE) that refers to embolism of microorganisms with or without a thrombotic mantle into the pulmonary vasculature. This condition is often recognized on the basis of imaging with a clinical correlation. Unfortunately, data regarding the pathological features are meager. This has prompted to review such cases at autopsy.

Aims:

To study the pathological features of SPE at autopsy.

Materials and Methods:

Ten-year (2012 to 2021) autopsy records of the hospital were retrospectively reviewed. The diagnosis was based on the identification of acute necrotizing pulmonary arteritis with peri-bronchoarterial consolidation. These cases were analyzed with reference to the demographics, clinical characteristics, and pulmonary/extrapulmonary findings at autopsy.

Statistical Analysis:

Nil.

Results:

According to the inclusion criterion, 19 cases demonstrated the presence of SPE. There were 11 men and 8 women with a mean age of 32.1 years. The major source of infection included infection arising from skin and musculo-skeletal system (11 patients, 59.7%). The common clinical presentation included fever, dyspnea, chest pain, hemoptysis, and altered sensorium. The cause of death was mainly due to septicemia and/or confluent lung consolidations. A large number of bacterial colonies were seen in all; Candida species were also identified in two cases. Other lung findings included diffuse alveolar damage, fresh arterial thrombosis, infarction, arterial pseudo-aneurysms, abscess formation, and pyogenic pleuritis.

Conclusion:

Presence of an extrapulmonary infection with persistent fever, bacteremia, and pulmonary complaints should raise suspicion for this entity, particularly in resource-poor settings, to prevent grave pulmonary complications.
Online teaching of undergraduates in pathology during COVID-19 pandemic
Authors: Singh Pomilla , Swami Ravi , Kelkar Anjali , Adsul B. , Mulay Smita , Karandikar M. , Nimbargi R.C. , Mani N.S.
Published: May 2024

Introduction:

Covid 19 pandemic has brought human life one on one with the pace of growth. The indispensable lockdown and social distancing norms have posed challenges to continue education in various fields. Distance learning via online teaching has emerged as a savior in the pandemic. In the current scenario, it is very important to keep learners in the loop and obtain feedback from students at the end of online teaching, for understanding its strength and weaknesses which will eventually assist in developing strategies to improve its quality. We intend to share our experience with the online teaching.

Materials and Methods:

The study was conducted from March 2020 to Feb 2021, which includes 8 months of online teaching classes and practicals, one online examination (mid term exam), and 1 offline examination (final professional exam). The marks obtained by the students who attended online classes (batch II) in 2020-21 session was compared with previous batch i.e 2019-20 (batch I). Also the marks obtained by batch I during online exam (mid-term exam) were compared with their marks during offline exam (final professional exam). Results: Batch II scored higher marks than batch I in theory and practical (p-value < 0.05). However, the marks of viva for both batches were equitable.

Conclusions:

We feel that the online teaching is a reasonable alternative to conventional teaching in the current scenario.
Estimation of plasma and RBC acetylcholinesterase in children
Authors: Kuvelkar Neha , DSouza Serena , Vidhyashree K. , Shankar Gowri , Bukel Maria Frances , Noronha Santosh , Kini Usha
Published: May 2024

Background:

Increased acetylcholinesterase (AChE) activity on frozen sections of rectal mucosal biopsies accurately diagnoses Hirschsprung disease (HD). But the quest for a biomarker in blood as a screening test prompts one to look for AChE in blood and study its role in HD diagnosis.

Aim:

To develop a low-cost reliable method to estimate the AChE activity in plasma and red blood cells (RBCs) in normal children (control) and study its role in HD (test).

Materials and Methods:

Optimized method derived after modifying and standardizing known AChE assay protocols for blood were employed on 30 controls to define the AChE cut-off range, on 40 suspected HD cases to categorize them as HD/non-HD based on cut-off values and later compared with gold standard tissue AChE histochemistry of rectal mucosal biopsies.

Results:

An optimal in-house modified methods of Ellman's was found best suited to analyze plasma AChE activity, method by Wilson and Henderson was optimal for extraction and AChE estimation in RBCs. AChE levels (controls) obtained were 1.03 ± 0.31 U/mL and 5.17 ± 1.52 U/mL in plasma and RBCs, respectively while the plasma AChE was 1.35 ± 0.84 U/mL (HD) and 1.62 ± 0.85 U/mL (non-HD) while RBC AChE was 4.29 ± 3.2 U/mL (HD) and 6.48 ± 4.31 U/mL (non-HD). Sensitivity was 66.67% and 55.56%, specificity was 22.73% and 45.45%, and an accuracy rate of 42.5% and 50% for plasma and RBC, respectively.

Conclusions:

Mutually exclusive AChE activity range identified for test blood samples overlapped with the normal and hence, not considered a diagnostic tool for HD.
A rare case of a solitary fibrous tumor of vulva, displaying NAB2ex6-STAT6ex17 fusion
Authors: Rekhi Bharat , Bapat Prachi , Jindal Arpita
Published: May 2024

A solitary fibrous tumor (SFT), although ubiquitous, is rarely documented in the female genital tract, especially confirmed by STAT6 immunostaining and underlying NAB2-STAT6 gene fusion. A 24-year-old female presented with a gradually increasing vulvar swelling in her right labia, which rapidly increased in size over 1-year duration. Radiologically, a subcutaneous, predominantly solid, lobulated mass, measuring 10 cm in the largest dimension was seen involving her right labia majora and perineum. She underwent tumor resection, elsewhere, where it was reported as a pleomorphic sarcoma. Histopathologic review revealed a cellular tumor comprising spindle cells, displaying mild nuclear variation, arranged diffusely and focally, in a hemangiopericytomatous growth pattern, within a collagenous stroma. Interspersed were blood vessels with perivascular hyalinization and few giant cells. By immunohistochemistry, tumor cells showed patchy immunostaining for CD34 and diffuse immunostaining for STAT6. Furthermore, the tumor displayed NAB2ex6-STAT6ex 17 fusion by RT-PCR technique. This case constitutes one of the few reported cases of vulvar SFT, confirmed by STAT6 immunostaining and the second such case, displaying NAB2-STAT6 gene fusion. Diagnostic and treatment implications are discussed herewith.
Audit in surgical histopathology at a tertiary healthcare center
Authors: Shinde Sweety V. , Dhanve Manisha J.
Published: May 2024

Context:

An audit aims to verify conformance to required processes, assess their implementation, and define the targets of quality control.

Aims:

To evaluate preanalytic and analytic phases of surgical histopathology in a tertiary healthcare center.

Setting and Design:

An observational retrospective and prospective study over 3 months each of year 2013 and 2014.

Materials and Methods:

Biopsy, small resections, large organ resections, bone marrow aspirate/biopsy (BMA/BMB), and frozen section samples received in surgical histopathology were categorized as I to V, respectively. A manual audit was done for preanalytical phase (adequacy of clinical information and grossing adequacy) and analytical phase [turnaround time (TAT) and tissue section quality].

Statistical Analysis:

Qualitative data was assessed by Chi-Square test. Quantitative data was assessed using One-Way Analysis of Variance.

Results:

Among 3179 total cases, category I to V had 1558 (49%), 1099 (34.6%), 342 (10.8%), 124 (3.8%), and 56 (1.8%) cases, respectively. Category I had shortest TAT but maximum number of inadequately sent specimens and recuts. Category III had maximum cases with inadequate clinical history, grossing errors, additional sections, and longest TAT. Category IV had maximum cases with poor quality sections. Category V had maximum cases with inadequate demographic details and clinical investigations. BMB (114, 91.9%) was more useful than BMA for diagnosis. Mean TAT for fixed tissues and frozen tissues was 3.6 ± 1.8 days and 26.6 ± 11.2 min, respectively.

Conclusions:

Total 25% of annual workload was studied by an observational, manual audit. Quality indicators were achieved as per international norms despite limited resources. Remedial actions were suggested for technicians, clinicians, and pathologists to minimize errors.