bluuebunny/crossref_metadata_2025_split huggingface dataset:
Aneurysmal Bone Cyst (ABC), A Rare Diagnosis in Oral Pathology Based on Our 15-Year Institutional Experience
Authors: Amer S , Nobee A , Kuklani R , Proca D 
Published: November 2022

Abstract

Introduction/Objective
Aneurysmal bone cyst (ABC) is a rare, benign bone lesion that was first described by Jaffe and Lichtenstein in 1942. Primary ABC usually affects vertebrae and metaphyseal regions of long bones, particularly femur and tibia. Only 2-3% of ABCs occur in the head and neck region, with the mandible and maxilla being the most common. It arises mostly in children and young adults, mean age 20 yo, with no gender predilection. ABC can manifest with pain, swelling, and pathological fractures. Radiographically, it appears as a metaphyseal expansile lesion that thins the cortex and has a sclerotic rim. Lesions containing “fluid-fluid” levels are best appreciated on MRI. Approximately 70% of primary ABCs have rearrangements of the USP6 gene. The most common translocation seen in primary ABCs is t(16;17) (q22;p13) leading to the fusion of the cadherin 11 gene with USP6 gene. The USP6 gene product inhibits the differentiation of osteoblasts and dysregulates bone morphogenetic protein signaling pathway.

Methods/Case Report
A retrospective chart review of all oral pathology cases referred to our institution between 1996 and 2022 was performed; three patients diagnosed with primary ABC were identified. Patient demographic data, clinical presentation, treatment, slides, and pathologic features were reviewed.

Results (if a Case Study Enter NA)
We report of three primary ABCs of the mandible and maxilla. The mean age was 39 yo (range, 26-59 years). The mandible was affected in two cases, and the maxilla involved in one. Female: Male ratio was 2:1. All lesions were primary ABC, with no other associated lesion - they showed pseudocystic structures with fibrous stroma and a variable numbers of multinucleated giant cells in relation to sinusoidal blood spaces, as well as irregular trabeculae of osteoid and reactive woven bone.

Conclusion
Primary ABC is a rare tumor in oral pathology. The importance of this study is to increase awareness of this neoplasm in the head and neck region, as well as delineate features that help differentiate ABCs from other fibro- osseous lesions of the mandible and maxilla.
Checking for CHEK2 Hereditary Mutations in Ukrainian Women: Lack of CHECK2 Variants Contribution to Breast Cancer Susceptibility
Authors: Sulaieva O , Kozakov D , Livshun S , Matvieieva A , Shabalkov R 
Published: November 2022

Abstract

Introduction/Objective
Although the role of homologous recombination repair (HRR) machinery in breast cancer susceptibility has been clearly established, the range and frequency of HRR gene mutations vary profoundly in different populations. Previously high incidence of CHEK2 (Checkpoint kinase 2) mutations was shown in Eastern Europe, however, there is still limited data on the rate of CHEK2 gene mutations and their clinical implications in the Ukrainian population. The aim of this study was to assess the frequency of CHEK2 mutations and investigate whether CHEK2 variants confer susceptibility to breast cancer in Ukrainian women.

Methods/Case Report
This was a retrospective case-control study performed on 320 female breast cancer patients and 146 unaffected women (control), aged 42,3±0,51 and 40,3±0,84 respectively, who underwent NGS-testing for germline mutations in multiple genes including CHEK2. Only pathogenic (PV) and likely pathogenic (LPV) variants were considered for further analysis.

Results (if a Case Study enter NA)
The frequency of CHEK2 mutations did not differ significantly between the observed groups: there were 27 (8,4%) carriers among female breast cancer patients and 15 (10,27%) carriers in unaffected women. To note, the breast cancer patients demonstrated a high rate of CHEK2 co-mutations with BRCA1 (PV, n=3) and BRCA2 (n=2, PV). Within the range of CHEK2 genetic alterations, we reported variant c.470T&gt;C (p.Ile157Thr) found in 22 carriers (52,4%) and deletions of exons 9-10 detected in 7 women (16,7%) as most prevalent in Ukrainian population. The rates of CHEK2 c.470T&gt;C (p.Ile157Thr) variant were comparable among the unaffected women (n=5; 3,4%) and breast cancer group (n=17; 5,3%); exon 9-10 deletions were found in 2 (1,36%) and 5 (1,56%) cases respectively. Less frequent CHEK2 mutations were detected in ≤3 cases per group. In this study we report no contribution of CHEK2 genetic alterations to breast cancer susceptibility (OR=1,24; 95%CI 0,64-2,41; p=0,521) in Ukrainian women.

Conclusion
The frequency of CHEK2 mutation in Ukrainian women is relatively high as compared to available data on other populations. However, we did not find any contribution of CHEK2 pathogenic/likely pathogenic variants to breast cancer susceptibility.
Primary Malignant Peripheral Nerve Sheath Tumor of the Breast: A Rare Case Report
Authors: Tahir M , Zedan M , Bellamkonda V , Wei E , dyess L 
Published: November 2022

Abstract

Introduction/Objective
Primary breast sarcomas are uncommon and primary mammary malignant peripheral nerve sheet tumors (MPNST) are exceptionally rare. MPNST’s are malignant variants of peripheral nerve sheath tumors. These neoplasms are often associated neurofibromatosis type I (NF-I) but can also occur sporadically. They tend to occur in the deeper soft tissues, trunk, and extremities.

Methods/Case Report
A 60-year-old female was referred to our University Hospital for evaluation of an abnormal mammogram. Patient noticed a mass in the left breast 3 months ago and mammogram showed a large solid mass located at the left superior breast. Subsequent biopsy of the left breast lesion showed high grade malignant neoplasm with differential diagnosis of malignant phyllodes tumor, primary sarcoma, and metaplastic carcinoma. The tumor was non-responsive to the initial neoadjuvant therapy. The patient underwent modified radical mastectomy. The excised tumor was well-circumscribed, tan-white, firm, measuring 9.6 x 6.1 x 4.3 cm. The neoplastic cells were positive for CD99, S-100, SOX-10, neuron specific enolase, p53, Vimentin, focally positive for neurofilament, D2-40, p63, and negative for epithelial, melanoma and other sarcoma markers. The tumor was triple negative ER, PR, HER-2, with Ki- 67 at 61%. A diagnosis of primary high grade malignant peripheral nerve sheath tumor of the breast was rendered. The patient does not have a history of NF-1. There was no lympho-vascular or perineural invasion. After the surgery, the patient followed up without complications.

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

Conclusion
An accurate diagnosis of this rare entity is necessary because it plays a crucial role in the therapeutic options and prognosis. In our case the patient was treated with neo-adjuvant chemotherapy followed by modified radical mastectomy. The purpose of presenting this unique case is to provide awareness of the existence of this entity among pathologists and clinicians for better patient care.
Immunochemical Fecal Occult Blood Test Screening Results prior to Colorectal Cancer Diagnosis
Authors: Petersen J M , Dalal S , Jhala D 
Published: November 2022

Abstract

Introduction/Objective
Immunochemical fecal occult blood testing (iFOBT) is one of the options outlined by the standard of care guidelines from the U.S. Preventive Services Task Force (USPSTF) for screening for colorectal cancer in adults. The iFOBT assay is a convenient and reasonably accurate screening assay. It has been shown in the literature, through a metanalysis of iFOBT tests, that the overall sensitivity of iFOBT in the general population for detecting colorectal cancer within 2 years of follow-up across different medical settings is 0.79 (95% confidence interval 0.69-0.86). However, similar investigation in the veteran population is sparse, but would be important given the significant differences between the Veteran population and the general population including increased medical comorbidities.

Methods/Case Report
A search of all iFOBT testing performed at a regional Veteran Affairs Medical Center (VAMC) from 10/1/2018 to 6/4/2022 was performed to identify patients with both diagnosed colorectal cancer by pathology examination and iFOBT testing within 2 years prior to this diagnosis. The iFOBT result (at least one positive prior to diagnosis or always negative) prior to diagnosis with colorectal cancer was recorded once per patient. iFOBT results collected after the day the positive colorectal pathology specimen was obtained were excluded. Demographic information was also recorded. iFOBT testing was performed using the Polymedco assay product (Cortlandt Manor, NY).

Results (if a Case Study enter NA)
There were a total of 26 patients (25 males and 1 female) with diagnosed colorectal cancer. The patient age range was 37 to 88 years (average 70) with an ethnic composition of 12 of 26 (46%) African Americans, 13 of 26 (50%) Caucasian American, and 1 of 26 (4%) Native Hawaiian or other Pacific Islander American. 20 of the 26 patients (77%) of the patients had at least one positive iFOBT test result prior to their colorectal cancer diagnosis, which is within the published observation for the accepted sensitivity in the general population.

Conclusion
While there are differences between the general population and the veteran population in terms of medical comorbidities, the iFOBT test assay performed similarly to the general population in terms of sensitivity for colorectal cancer diagnosed within 2 years of the iFOBT assay and remains an important part of the standard of care for colorectal screening for both populations.
Correlating Cytologic and Histologic Features of Hepatic Epithelioid Hemangioendothelioma
Authors: Ali M , Thomas S , Zhou Z 
Published: November 2022

Abstract

Introduction/Objective
Epithelioid hemangioendothelioma (EHE) is a rare malignant vascular tumor composed of epithelioid and dendritic tumor cells embedded in myxoid or hyalinized stroma. It can occur in various organs and has nonspecific clinical and radiologic presentation. We report a case of EHE in the liver with correlation of cytologic and histological findings.

Methods/Case Report
A 68-year-old female presented for evaluation of a right hepatic lobe lesion that was noted on Imaging. MRI abdomen with contrast showed a well-circumscribed hypointense nodule with no contrast enhancement. CT-guided fine needle aspiration showed scattered atypical epithelioid cells in a background of benign hepatocytes which were positive for vascular markers (CD31 and CD34) as well as keratins and SMA. A diagnosis of atypical vascular neoplasm was rendered. A partial hepatectomy was performed a month later which showed a 3.2 cm mass with solid tan-white cut surface. Histologically, the mass was composed of epithelioid tumor cells with focal intracytoplasmic vacuoles which were partly solid and partly forming vascular-like spaces, embedded in a background of hyalinized stroma. Immunohistochemically, in addition to the vascular markers the tumor was positive for CAMTA1 confirming the presence of WWTR1-CAMTA1 gene fusion which is characteristic for epithelioid hemangioendothelioma. The patient was discharged in good condition.

Results (if a Case Study enter NA)
NA.

Conclusion
Diagnosis of EHE on FNA is challenging. It is characterized by discohesive atypical large polygonal cells with abundant dense cytoplasm in a background of benign hepatocytes. Characteristically, the tumor cells have intracytoplasmic vacuoles containing red blood cells, which resemble signet ring-like structures. Immunohistochemically, positivity for vascular markers and CAMTA1 is diagnostic.
A Rare Case of Metastatic Extragonadal Yolk Sac Tumor – A Challenging Diagnosis on Cytomorphology
Authors: Rahmanov N , Kaur N , Manucha V 
Published: November 2022

Abstract

Introduction/Objective
Yolk sac tumors are characterized by variable histologic patterns and broad cytologic spectrum; thereby making the distinction from a poorly differentiated adenocarcinoma in a metastatic site extremely challenging. We present cytology and histology of a metastatic extragonadal germ cell tumor with predominant solid yolk sac component.

Methods/Case Report
36-year-old male presented with bilateral supraclavicular masses (right: 6 x 7 cm, left: 3 x 4 cm). CT chest and abdomen revealed large mediastinal and hilar nodal mass (11.6 cm), right hilar mass (8.5 cm), bilateral heterogeneous adrenal masses (right: 11.4 cm, left: 3.1 cm), and an enhancing retroperitoneal implant. Differential diagnoses of lymphoma, adrenocortical carcinoma, small cell lung carcinoma, and metastatic germ cell tumor were considered. Testicular ultrasound revealed no masses. Fine needle aspiration of supraclavicular lymph nodes showed highly cellular smears comprised of tumor cells, dispersed singly and in clusters, with irregular nuclear contours, increased nuclear to cytoplasmic ratio, coarse chromatin, occasional prominent nucleoli, and vacuolated cytoplasm. Tumor cells were positive for KRT7 and TTF-1, and negative for p40 and PAX8. A diagnosis of metastatic poorly differentiated carcinoma was rendered. Subsequent excisional biopsy of the lymph node showed a metastatic tumor with tumor cells similar to those seen in cytology, appearing in solid sheets with focal papillary architecture, replacing the entire lymph node. Additional immunohistochemistry showed expression of SALL4, Glypican 3, with lack of expression for OCT3/4, AFP, hCG, and CD30, supporting the diagnosis of metastatic yolk sac tumor, solid pattern.

Results (if a Case Study enter NA)
NA.

Conclusion
Aggressive clinical presentation, broad clinical differential diagnoses, rarity of a primary mediastinal yolk sac tumor, non-diagnostic cytomorphology along with expression of divergent differentiation markers (TTF-1 in our case) makes a definitive diagnosis of metastatic extragonadal yolk sac tumor extremely challenging. High index of clinical suspicion is required for a definitive diagnosis on cytomorphology.
FNA as a Powerful Modality to Detect Granular Cell Tumor in Male Breast: A Report and Review of Literature
Authors: Mazur I , jhala N C , Lazim A 
Published: November 2022

Abstract

Introduction/Objective
Granular cell tumor (GCT) is a benign mesenchymal tumor of Schwannian origin. Granular cell tumor is an uncommon tumor of the breast with a prevalence of 1:1000 to 6.7:1000 of all breast tumors. Most cases are diagnosed on surgical resection. When reported that are most commonly in middle-aged premenopausal women. Diagnosis of GCT on fine needle aspiration (FNA) in male patients is, however, extremely rare. We present here an unusual case of GCT of the breast in a male patient clinically mimicking malignancy.

Methods/Case Report
A 34-year-old male patient presented with a palpable lump in the left breast. An imaging study showed a 0.6 cm hypoechoic mass with microlobulated borders and no internal vascularity suspicious for breast carcinoma (BIRAD-4). Fine needle aspiration (FNA) of the mass was performed. Rapid onsite specimen evaluation was performed and additional passes were performed to collect sample for cell block to perform ancillary studies. FNA revealed clusters of polygonal cells with abundant eosinophilic granular cytoplasm and poorly defined borders. Those cells had round to ovoid nuclei with vesicular chromatin pattern and prominent nucleoli. A differential diagnosis of GCT, apocrine metaplasia, and lesions rich in histiocytes such as granulomatous inflammation, fat necrosis and duct ectasia were considered. Immunohistochemical staining with S100 and CD68 was performed which stained granular cytoplasm in tumor cells of GCT. A review of literature from the past 5 years shows 23 cases of GCT of the breast are reported in the literature and of these only 3 (13%) are reported in males. These tumors ranged from 20-68 years with tumor size ranging from 5- 28 mm. Only 1(4%) cases were preoperatively diagnosed using FNA. No cases of GCT were preoperatively diagnosed on FNA samples from the breast.

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

Conclusion
We show here that a powerful relatively noninvasive and rapid modality like FNA can be effectively utilized to detect very rare benign tumor like GCT in the male breast where imaging studies suspect breast cancer.
Endoscopic Ultrasound-Guided Fine Needle Aspiration of Solid Pseudopapillary Neoplasm of the Pancreas in a Male Patient: A Rare Report
Authors: Dai M , Aveni J , Abdulsattar J , Lairmore T 
Published: November 2022

Abstract

Introduction/Objective
Solid pseudopapillary neoplasm (SPN) of the pancreas is a rare pancreatic tumor with low malignant potential composed of poorly cohesive epithelial cells forming solid and pseudopapillary structures. It develops almost exclusively (90%) in young females (mean age: 28 years, range: 7-79 years), while it rarely develops in men (mean age: 35 years, range: 25-72 years).

Methods/Case Report
Herein we report an unusual presentation of SPN in a 59-year-old male who presented with severe nausea, vomiting, right upper quadrant pain, and weight loss. Computed tomography imaging revealed a large pancreatic head/uncinate process mass. Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) biopsies showed abundant monomorphic cuboidal tumor cells arranged in loosely cohesive groups and singly dispersed cells. A few tumor cells are arranged in multiple layers around vascular structures expanded by metachromatic hyaline material. The tumor cells have thin cytoplasm, indistinct cell borders, round to oval nuclei, finely dispersed chromatin, and indistinct nucleoli. No mitosis, tumor necrosis, or other high-grade features are identified. Immunohistochemical stains are performed on cell block material and the tumor cells are positive for beta-catenin (nuclear), cyclin D1, vimentin, CD10, synaptophysin, and CD56, and negative for DOG-1, tryptase, and AE1/AE3. Ki-67 proliferative index is less than 2% in tumor cells. The cytomorphologic features and immunoreactivity are diagnostic of solid pseudopapillary neoplasm. We diagnosed SPN preoperatively by EUS-FNA using cytopathologic and immunochemical characteristics, which are very helpful to differentiate SPN from acinar cell carcinoma, neuroendocrine tumor, pancreatoblastoma, or other pancreatic tumors.

Results (if a Case Study enter NA)
NA

Conclusion
EUS-FNA can be used as a gold standard method to characterize and diagnose SPN preoperatively and help to guide clinical management.
Sarcomatoid Eccrine Porocarcinoma in a Patient with Urothelial Carcinoma
Authors: Chiu R , Wu M , Peng S 
Published: November 2022

Abstract

Introduction/Objective
Sarcomatoid porocarcinoma of skin is an exceedingly rare and diagnostically challenging malignancy of the sweat gland. In this report, we describe a rare case of a sarcomatoid eccrine porocarcinoma initially diagnosed to be a squamous cell carcinoma (SCC) in a patient with metastatic urothelial carcinoma (UC).

Methods/Case Report
Our patient is a 60 year old male with stage IV, poorly differentiated UC status post TURBT with residual tumor, and a 4 x 3 x 1 cm, polypoid, ulcerating skin nodule on his right cheek presumptively diagnosed to be an SCC on biopsy at an outside hospital. Given the concern that this cutaneous lesion may be a metastatic UC with squamous differentiation, the skin nodule was re-biopsied at our hospital. On histology, the lesion consisted of sheets of squamoid, polygonal cells in the dermis with pleomorphic nuclei showing irregular contours, prominent nucleoli, coarse chromatin, and frequent mitoses. The tumor was focally connected to the epidermis, which established it as a primary skin neoplasm and not a metastatic lesion. The tumor cells stained diffusely positive for vimentin, AE1/AE3, CK5/6, HMW CK, CK7, p63, and p16, negative for CK20, GATA-3, BerEP4, and Sox10, and showed high Ki67 proliferation index. Within the tumor sheets were poorly formed, focal ductal elements that stained positive for CAM5.2, EMA, CEA, and CK19, and negative for p63. The tumor showed comedo necrosis, epidermal ulceration, and no keratinization. The tumor was diagnosed to be a porocarcinoma given its positive staining for CK7 and p16, presence of focal ductal elements, and epidermal connection, with sarcomatoid features indicated by strong vimentin expression.

Results (if a Case Study enter NA)
NA.

Conclusion
In this report, we described an exceedingly rare, diagnostically challenging case of a sarcomatoid porocarcinoma initially suspected to be a cutaneous SCC or metastatic UC with squamous differentiation. Although the tumor cells morphologically resembled SCC, its positive staining for CK7 and p16, presence of ductal elements, and lack of keratinization, favored a diagnosis of porocarcinoma rather than cutaneous SCC. Its focal connection to the epidermis and lack of GATA-3 expression favored a primary skin neoplasm rather than a metastatic UC. Its sarcomatoid nature was indicated by strong vimentin expression. Sarcomatoid porocarcinoma is diagnostically challenging given its rarity and potential to mimic other cutaneous malignancies such as SCC.
Estrogen Receptor Expression Pattern in Papillary Thyroid Cancers: A 23 Years Retrospective Multi-Centre Study in Jos Metropolis, North-Central, Nigeria
Authors: Richard S K , Emmanuel I , Richard B V , Nwadiokwu J I 
Published: November 2022

Abstract

Introduction/Objective
Papillary Thyroid cancers (PTC) are the commonest malignancy of this organ and seen more often in females. Estrogen Receptor (ER) is important in the pathogenesis of the disease and impacts on the prognosis. The aim is to establish ER status of PTC seen at the Jos University Teaching Hospital and other health institutions in Jos Metropolis.

Methods/Case Report
This was a hospital based, retrospective multicenter study. The biodata of histologically diagnosed PTC were obtained from surgical pathology cancer registries and archived histology request forms between 1st January 1998 and 31st December, 2020. Archival slides and fresh sections from tissue blocks were reviewed, classified and subjected to immunohistochemistry (polymer technique). They were scored (using Allred scoring system) and data analyzed using SPSS-20.

Results (if a Case Study enter NA)
A total of 53 (56%) cases of histologically diagnosed PTC out of 95 cases of thyroid cancers were included in the study. The mean, mode, median and age range were 44.7±15.4 years, 45 years, 43 years and 13-80 years respectively. Majority of cases were females (81.1%), this was replicated across all age groups. Out of the total number of PTC cases recorded, 36 (67.9%) were classical variant while the remaining 17 (32.1%) were follicular variants. Nine cases (17%) were positive for ER while 44 (83%) were negative. Out of the positive cases, 7 (77.8%) were females with 2 (22.2%) males. The total scores assigned to positive cases were 3 (66.7%) and 4 (33.3%) and were predominant in females in the 4th decade.

Conclusion
Majority of PTC were seen in females and were negative for ER. This suggest that very few of our patients are likely to benefit from selective estrogen receptor targeted therapy and therefore Surgery, Chemotherapy and Radioiodine therapy remain the main stay of treatment for most cases in our locality.