bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unilateral Primary Breast Dermatofibrosarcoma Protuberans with Negative COL1A1-PDGFB Fusion on Fluorescence In Situ Hybridization
Authors: Hosseini H , Sham S , Morrar D , Steinberg J M , Al-Refai R , Jormark S , Vele O , Hajiyeva S , Tongson K C 
Published: November 2022

Abstract

Introduction/Objective
Dermatofibrosarcoma protuberans (DFSP) is a superficial and locally aggressive cutaneous soft tissue sarcoma. In most patients, DFSP arises from the trunk and proximal extremities with breast being an uncommon location. Although they rarely metastasize (&lt;5%), DFSP variants tend to recur locally. Most molecularly characterized cases have been defined by the translocation t(17;22)(q21.3;q13.1), which yields a fusion of the COL1A1 and PDGFB genes. In routine practice, dual fusion or break-apart fluorescence in situ hybridization (FISH) for the COL1A1-PDGFB fusion gene is the most widely used screening method for DFSP. However, in ~4% of typical DFSP cases, routine FISH screening is negative. In some of the DFSP cases negative for COL1A1-PDGFB fusion gene by FISH, RNA sequencing has identified two novel gene fusions, COL6A3-PDGFD and EMILIN2-PDGFD, with the former having a predilection for the female breast.

Methods/Case Report
We present a 32-year-old woman who underwent a biopsy for a 3.4 cm echogenic firm mass in her right breast. Histology showed a cytologically-uniform spindle cell neoplasm with fibroblastic morphology. The neoplastic cells displayed a storiform growth pattern and honeycomb-like infiltration of the adipose tissue. Immunohistochemically, the neoplastic cells expressed CD34 and vimentin and were negative for AE1/AE3, p63, S100, CD31, SMA, β-catenin, and STAT6. PDGFB break-apart FISH was negative. Based on the histologic and immunohistochemical findings, a diagnosis of DFSP was rendered. FISH for PDFGD rearrangements or RNA sequencing targeting PDGFD was not performed at this time.

Results (if a Case Study enter NA)
NA.

Conclusion
Awareness is warranted for the rare variant of DSFP with a predilection for female breast, which is characterized by a novel gene fusion not detectable by routine FISH used for DFSP screening.
A Rare Presentation of Thoracic Intramedullary Chordoma with Adjacent Bone Involvement: A Case Report and Review of the Literature
Authors: Lazim A , Akhtar I , Rong Y , Arriola A , Mollaee M 
Published: November 2022

Abstract

Introduction/Objective
Chordoma originates from remnants of the embryonal notochord, and arise in bones anywhere along the spine and skull base. The most common location was thought to be the sacrum, followed by the clivus, and to a much lesser extent the rest of the spine. However, some studies have suggested an equal distribution among the skull base (32%), mobile spine (32.8%), and sacro-coccygeal bones (29.2%). Here we report a case of chordoma involving the thoracic spine. at the level of T2.

Methods/Case Report
A 63-year-old male with no significant past medical history who presented with 5-6 months of intermittent, bilateral lower extremity weakness and numbness in the trunk and lower extremities. MRI of the thoracic spine demonstrated a contrast enhancing mass at T2 vertebral level with spinal cord compression and adjacent bone destruction. T1-3 laminectomy with debulking of the tumor was performed. Microscopically, the tumor cells have a lobulated architecture and are composed of epithelioid cells arranged in cords, clusters or nests, embedded in a myxoid mucinous matrix. The epithelioid cells have a variably vacuolated cytoplasm ("physaliphorous" cells). The epithelioid cells are positive for CK AE1/3, Cam5.2, EMA and Brachyury (nuclear stain), and S100 (focal). These findings support a diagnosis of chordoma.

Results (if a Case Study enter NA)
N/A.

Conclusion
The most important and difficult differential diagnosis of chordoma is with well-differentiated chondrosarcoma. Although both chordomas and chondrosarcomas express S100, chondrosarcomas do not express cytokeratins, EMA or brachyury. Chordomas have an aggressive clinical course and poor outcome with local extension, recurrence and even metastasis. The treatment is en block surgical resection with adjuvant radiotherapy. The extent of the initial surgical resection is the most significant prognostic factor.
Metastasis of a Primary Sinonasal Alveolar Rhabdomyosarcoma to the Testicle in an Adult Patient
Authors: Chiu R , Dreikorn S , Peng S 
Published: November 2022

Abstract

Introduction/Objective
Alveolar rhabdomyosarcoma is an aggressive tumor of skeletal muscle differentiation that predominantly affects adolescents and young adults, and is rare over 45 years of age. It has poor prognosis with metastasis, and most commonly spreads to the lymph nodes, bone marrow, and lungs. In this report, we describe a middle-aged patient with a primary sinonasal alveolar rhabdomyosarcoma which metastasized to the right testicle, an unusual metastatic site reported only a few times in literature.

Methods/Case Report
Our patient is a 53 year old male who presented in 2020 with recurrent epistaxis and bilateral cervical lymphadenopathy over a 2 month period. Maxillofacial CT/MRI imaging revealed a 4-cm sized mass within the left nasal cavity eroding into the ethmoid sinuses. The patient underwent endoscopic sinus surgery of the sinonasal mass, which on histology, appeared as poorly differentiated small round blue cells with numerous mitoses infiltrating as single cells and nests. These cells stained positive for vimentin, myogenin, desmin, and CD56, and negative for AE1/AE3, chromogranin, S-100, CD99, and CD45. The cells showed very high Ki67 proliferation index (70-80%) and tested positive for FOXO1 gene rearrangement, which supported the diagnosis of alveolar rhabdomyosarcoma. The patient completed chemoradiation therapy, and MRI scans over the next 2 years were negative for residual sinonasal tumor. However, the patient returned in 2022 after having undergone a right orchiectomy at an outside hospital for testicular pain, and abdominal CT showed diffuse retroperitoneal lymphadenopathy concerning for metastasis. On histology, the resected testicle showed seminiferous tubules infiltrated and destroyed by sheets of poorly differentiated small round blue cells with fibrous septae separating the nests of tumor cells into alveolar-like spaces with central loss of cohesion. The tumor cells showed the same immunohistochemical staining pattern as the primary sinonasal lesion, thus confirming it to be metastatic alveolar rhabdomyosarcoma.

Results (if a Case Study enter NA)
NA.

Conclusion
It is unusual for alveolar rhabdomyosarcomas to occur in adults over 45 years old, and is even rarer for these tumors to metastasize to the testicle. Metastases also only account for 1% of testicular tumors. Our report documents a very rare case of an alveolar rhabdomyosarcoma in a middle-aged adult which metastasized to the testicle after chemoradiation therapy.
Paravertebral Pseudoendocrine Sarcoma
Authors: Karimi S S , Gonzalez M F 
Published: November 2022

Abstract

Introduction/Objective
Pseudoendocrine sarcoma is a rare and newly described, emerging entity occurring predominantly in middle-aged to elderly males with apredilection for the thoracic paravertebral soft tissue. Pseudoendocrine sarcoma is a recently recognized intermediate-grade sarcoma with CTNNB1 mutations.

Methods/Case Report
Herein, we present a case of a 66-year-old male with a 10-year history of a progressively enlarging, painful, mid-back lesion. CT scan of the chest demonstrated a right paraspinal soft tissue mass measuring 9.5 x 5.5 x 4.5 cm located at the level of T8-T11. An image-guided biopsy was performed revealing monotonous, epithelioid cells, with round hyperchromatic nuclei, eosinophilic, granular cytoplasm, and indistinct borders arranged in rosettes. Mitoses, necrosis and lymphovascular invasion were not identified.The tumor cells were positive for Beta- catenin, CD56, BCL-2, BCL-6, CD4, CD34 and CD 68, and had a low-proliferative index. The neoplastic cells lacked staining with CK-AE1/AE3, CAM-5.2, NKX3.1, PAX8, Chromogranin, Synaptophysin, NSE, EMA, CD3, CD7, PAX5, and inhibin. The morphology and the immunophenotype support the diagnosis of pseudoendocrine sarcoma.

Results (if a Case Study enter NA)
N/A.

Conclusion
To date, few cases have been described in the literature. Recognition of this entity is important due to the potential for local recurrence (43%), and regional and distant metastasis. Complete excision of the lesion as well as adequate patient surveillance is imperative as we gain more understanding of the metastatic potential and prognosis of this emerging entity.
Hemophagocytic Lymphohistiocytosis Associated with Diffuse Large B-Cell Lymphoma: A Case Report
Authors: Hosseini H , Bendari A , Sham S , Yurovitsky A , Vele O , Ngu S , Futuri S 
Published: November 2022

Abstract

Introduction/Objective
Secondary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome of immune hyperactivation and dysregulation that has been observed in some malignancies. In HLH, natural killer (NK) cells and cytotoxic T-cells fail to control activated macrophages, leading to cytokine-mediated tissue injury and multiorgan failure. Persistent tumor antigenic stimulation and cytokine hypersecretion can trigger HLH. Diffuse large B- cell lymphoma (DLBCL) is uncommonly associated with HLH.

Methods/Case Report
A 50-year-old woman presented with daily fevers and malaise of one-month duration. Imaging showed marked hepatosplenomegaly with no lymphadenopathy. Laboratory studies were significant for pancytopenia (WBC: 3.8 K/µL, Hb: 6.8 g/dL, Plt: 74 K/µL), hypertriglyceridemia (330 mg/dL), hyperferritinemia (1460 ng/mL), and elevated soluble interleukin-2 receptor (CD25) (42351.5 pg/mL). These findings, along with NK cell activity level (not obtained in this case), fever, splenomegaly and hemophagocytosis (bone marrow, spleen or lymph nodes) represent the eight diagnostic criteria by Histiocyte Society HLH-2004. A splenic biopsy showed a nodular proliferation of medium-to-large neoplastic lymphocytes with CD20, PAX5, BCL6, MUM1, BCL2, CD5 (dim) and CD10 (dim) expression and negative for cyclin D1 and p53. CD21 did not highlight any dendritic cell meshwork. The bone marrow biopsy provided similar results. Overall, these findings were consistent with a DLBCL, germinal center subtype. Rearrangements of MYC, BCL2 or BCL6 genes were not detected. Although hemophagocytosis was not noted in the bone marrow or spleen, the patient met six of the eight HLH-2004 criteria (minimum five are required). The H-score was 174 reflecting up to 70% probability of HLH. Treatment with daily intravenous dexamethasone 10 mg/m2 was initiated as a temporizing measure prior to R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone) chemotherapy which resulted in complete remission.

Results (if a Case Study enter NA)
NA

Conclusion
Physicians should be cognizant of secondary HLH as a rare complication of DLBCL. Prompt initiation of the appropriate therapy could result in rapid and complete resolution.
The Correlation Between Serum Collagen III Levels and APRI in Liver Fibrotic HCV Patients
Authors: Abdelmonem M , Abdelmageed M , Wasim H , Eldaly R , Elhusseny A , Saleh Abdelfattah M 
Published: November 2022

Abstract

Introduction/Objective
Noninvasive Markers (NIM) of Liver Fibrosis help evaluate the stage of fibrosis in patients with no clear indication for a liver biopsy, such as patients with chronic hepatitis C who need monitoring of the stage of fibrosis during or after treatment. The perfect NIM for hepatic fibrosis should be inexpensive, safe, simple, reliable, and well-validated in different forms of chronic liver disease.

Aim of the work
Find if there is a correlation between serum collagen III and APRI as noninvasive markers in patients with HCV-induced liver fibrosis.

Methods/Case Report
118 patients with HCV induced liver fibrosis (60 males and 58 females) and 50 healthy comparable control subjects (27 males and 23 females) were enrolled in the study. Collagen III was identified in serum samples of HCV-induced liver fibrosis patients at 70 kDa using collagen III polyclonal antibody and western blot analysis techniques. Collagen III was purified using the electroelution technique and then quantified using the ELISA technique. AST, ALT, albumin, and total bilirubin were measured. The APRI was calculated as [AST/ (upper limits of normal)/ platelets count 109/L]×100. The AST-ALT ratio was calculated as [AST/ ALT].

Results (if a Case Study enter NA)
There was a statistically significant difference between the diseased and control groups (P&lt;0.0001) regarding collagen III and APRI. Also, significant positive correlation between serum collagen III, APRI, and ALT levels (r=0.3 and p=0.02). However, there were no correlations between serum collagen III levels and AST, Albumin, Total Bilirubin, and AST/ALT ratio (r=0.15, -0.26, 0.22, and -0.027), respectively.

Conclusion
Collagen III and APRI is a promising diagnostic and prognostic potential in the noninvasive assessment of liver fibrosis as their levels elevate with each other. So, we can powerfully depend on them in liver fibrosis diagnosis in chronic HCV patients.
Ceruloplasmin: A Surrogate Marker of Osteoporosis
Authors: Das S 
Published: November 2022

Abstract

Introduction/Objective
Osteoporosis is a bone disorder and is currently a major global health issue. Ceruloplasmin (CP) is an acute phase reactant and antioxidant, characterized by ferroxidase activity and increases in inflammation. C-reactive protein (CRP), an acute phase protein belonging to pentraxin family of proteins. This study was designed to investigate the role of acute phase reactants Ceruloplasmin and CRP in the screening of osteoporosis. The objective of this paper is to evaluate the role of serum Ceruloplasmin and C-reactive protein as biomarkers of osteoporosis.

Methods/Case Report
This study was conducted in the Bone Clinic and the biochemistry department of a tertiary care hospital. One hundred and twenty participants were included in the study belonging to the age group of 50 to 80 years. Participants in the group were divided into two groups, group I: comprising of patients with osteoporosis, and group II: consisting of patients without osteoporosis (n=56) (control group) (n=64). Patients were classified into two groups on the basis of Bone Mineral Density measurements using dual-energy. X-ray absorptiometry scanning. CRP and serum CP levels were analyzed in blood samples by immunoturbidimetry.

Results (if a Case Study enter NA)
Serum ceruloplasmin levels were significantly higher in Osteoporosis patients as compared to the control group. A significant positive correlation (r= 0.92, p&lt;0.05 ) was observed between higher serum levels of CP and higher levels of CRP in the Osteoporosis patients. There was a significant difference in the CP levels of the osteoporosis group (68.4± 7.2 mg/dl ) and the control group (37.3 ± 4.9 mg/dl) (p&lt;0.05). CRP levels also differed significantly among the osteoporosis patients (2.23± 0.68 mg/dl) and the control participants (1.07± 0.42 mg/dl) (p&lt;0.05).

Conclusion
Our study demonstrates that the measurement of serum ceruloplasmin levels has the potential as a surrogate marker for patients with osteoporosis
Integrating Transgender Medicine Curriculum in Medical Laboratory Sciences
Authors: Ledesma C J 
Published: November 2022

Abstract

Introduction/Objective
Transgender, non-binary, and other gender-diverse individuals experience poor health outcomes as a result of discrimination in health care settings. In order to develop a competent and knowledgeable workforce, a curriculum that will promote the understanding of the health needs of patients with gender incongruence is imperative. Developing a curriculum and its integration into medical laboratory science will increase competency and develop a knowledgeable and culturally-competent workforce of medical laboratory professionals.

Methods/Case Report
To increase the competency of medical laboratory professionals, a 2-part training program will be developed to help address medical laboratory professionals' healthcare encounters with persons who identify as lesbian, gay, bisexual, transgender, queer, and intersex (LGBTQI). The curriculum developed will help learners understand the effects of gender-affirming care as it relates to laboratory medicine.
Curriculum Outline
Sex and Gender Orientation
Historical Perspectives in Transgender Health
Epidemiology and Health Outcomes of Transgender Patients
Transgender Medicine
Transgender Medicine in Medical Laboratory Sciences.

Results (if a Case Study enter NA)
NA

Conclusion
Future considerations related to the development of a curriculum to understand the effects of transgender medicine in medical laboratory sciences will include Increased awareness of transgender medicine for all levels of laboratory staff. Ability to understand the needs of the patient population and be patient advocates to improve health outcomes. Understand the physiologic effects of gender-affirming care and its impact on medical lab tests. Determine inadequacies in an institution and help develop processes to help improve data collection important to understand the health care needs of demographic. Update the knowledge base of practitioners to further enhance laboratory services and promote healthcare equity.
Biannual Administration of a Slide Exam to Residents to Prepare them for Board Examinations: A Pilot Effort
Authors: Wu J , Schaberg K 
Published: November 2022

Abstract

Introduction/Objective
To enhance surgical pathology education and allow residents to self-assess their progress, a pilot effort was made to twice a year administer a slide exam simulating the microscopic component of the American Board of Pathology anatomic pathology examination to a cohort of residents.

Methods/Case Report
The subjects were pathology residents in a mid-size academic program typically consisting of 12 residents. The quizzes were held twice a year from fall 2019 to fall 2021. In the fall of 2019, the exam consisted of 20 glass slides with accompanying history for which the residents were required to provide a free text diagnosis. After the onset of the coronavirus pandemic, the exam was transitioned to virtual microscopy using whole slide imaging similar to the board exam. The answers of the trainees were graded in comparison to the clinical diagnoses. The residents’ opinions of the exercise were anonymously assessed via a survey.

Results (if a Case Study enter NA)
Overall, resident performance roughly correlated with post-graduate year with a gradual improvement in performance every year. All residents agreed (with 84.1% of them “strongly” agreeing) that this exercise benefited their education. After two years of seasonal examination, there was an increasing trend showing more residents, including junior ones, becoming more confident in their preparation for the anatomic pathology board exam.

Conclusion
Though the sample size in this study is small, it demonstrates that regular administration of a slide exam to residents can be used to help residents assess their progress and help them feel more confident in their preparation and training for board exams.
An Extremely Rare Variant of Pancreatic Ductal Adenocarcinoma Masquerading as Chronic Pancreatitis
Authors: Smith C J , Scott K , Parrett T , Rao D 
Published: November 2022

Abstract

Introduction/Objective
Primary Pancreatic signet-ring cell carcinoma (PPSRCC) is an extremely rare histologic variant with sparse literature. Herein, we describe a case of PPSRCC in a 75-year-old female with positive family history of pancreatic cancer (47y/o brother). The diagnosis was delayed secondary to diagnostic challenges on initial fine-needle aspiration (FNA).

Methods/Case Report
Diagnosing PPSRCC on FNA can be extremely difficult. Primary, and metastatic neoplasms to the pancreas may exhibit cytomorphological similarities to signet-ring cells, posing diagnostic challenges. Further, sampling of abundant background inflammatory cells during a biopsy can result in incorrect diagnosis of pancreatitis. Given the strong clinical suspicion based on imaging findings, a second FNA was performed which showed few atypical cells suspicious for carcinoma. Subsequently, the patient underwent neoadjuvant chemotherapy and Whipple resection. The tumor morphology is characterized by infiltrating cells with large mucin vacuoles and peripheric nucleus comprising &gt; 50% of the mass lesion with perineural invasion, in a background of chronic inflammation and pancreatic intraepithelial neoplasia, grade III. A diagnosis of PPSRCC was rendered. Notably, lymph nodes (LN) showed no evidence of metastasis.

Results (if a Case Study enter NA)
NA.

Conclusion
Based on limited literature, PPSRCC is considered an aggressive malignancy with low survival rate, because of a high rate of metastasis. However, our case was rather unique given the lack of LN metastasis and the neodjuvant treatment strategy. As of February 2022, &lt;10 cases have been reported with ill-defined characteristics and treatment guidelines.
Serous Cystadenocarcinoma of Pancreas: A Rare Find
Authors: Kumar S , Jabbar K 
Published: November 2022

Abstract

Introduction/Objective
Pancreatic cystic neoplasms comprise 1-2% of pancreatic lesions and most of these lesions are cystadenomas. Serous cystadenocarcinoma is an extremely rare but known malignant condition described in the literature and the diagnosis is restricted to cases with distant metastasis of tumor beyond the pancreas. Per WHO, cytologic atypia, vascular, perineural, and adjacent organ and lymph node involvement by direct spread are insufficient for the diagnosis of serous cystadenocarcinoma.

Methods/Case Report
We report an interesting case of serous cystadenocarcinoma of pancreas in a 55-year-old male with medical history of prostate cancer was found to have a 15 cm mass pancreatic tail suspicious for neuroendocrine tumor and 5 small hepatic lesions suspicious for metastasis. The patient underwent subtotal pancreatectomy and splenectomy, and wedge resection of liver lesions. On gross examination, a yellow cystic mass was present in the pancreatic tail measuring 13.2 cm in the maximum dimension. H&E slides from the pancreas and liver demonstrated a neoplasm composed of cystic and solid areas, within a background of fibrosis and focal hemorrhage. Cystic areas showed microcysts composed of cells with clear cytoplasm and round to oval bland nuclei. Solid areas demonstrated almost no microcysts but sheets and clusters of cells with clear to scant cytoplasm, oval to round nuclei, few areas of atypical hyperchromatic cells, and occasional mitosis. Very focal clusters and cords of neuroendocrine cells, constituting less than 5% of the tumor volume were also identified. Immunohistochemical stains demonstrated the neoplastic cells both in cystic and solid areas were positive for CK7, CK19, MUC6, and inhibin. Ki67 demonstrated an overall proliferation index of 3%. Chromogranin and synaptophysin were negative within the solid and cystic components of the tumor, however, showed positive staining within neuroendocrine foci. Neoplastic cells were negative for all other tested markers including beta-catenin, ER, Hep-par 1, HMB45, IMP3, MART-1, PAX-8, and trypsin. RB1 expression was retained within neoplastic cells.

Results (if a Case Study enter NA)
N/A.

Conclusion
The differentiation between benign and malignant serous cystadenoma both histologically and clinically may be very difficult as some cases of serous cystadenocarcinoma may not show overt cytologic atypia. The presence of metastasis, which most often occurs in the liver is required for the diagnosis of serous cystadenocarcinoma.