EWSR1 rearranged primary renal myoepithelial carcinoma: a diagnostic conundrum.

Primary renal myoepithelial carcinoma is an exceedingly rare neoplasm with an aggressive phenotype and Ewing sarcoma breakpoint region 1 (EWSR1) rearrangement in a small fraction of cases. In addition to its rarity, the diagnosis can be challenging for the pathologist due to morphologic heterogeneity, particularly on the biopsy specimen. At times, immunohistochemistry may be indecisive; therefore, molecular studies should be undertaken for clinching the diagnosis. We aim to illustrate a case of primary myoepithelial carcinoma of the kidney with EWSR1-rearrangement in a 67-year-old male patient who presented with right supraclavicular mass, which was clinically diagnosed as carcinoma of an unknown primary. An elaborate immunohistochemical work-up aided by fluorescent in-situ hybridization allowed us to reach a conclusive diagnosis. This unusual case report advocates that one should be aware of the histological mimickers and begin with broad differential diagnoses alongside sporadic ones and then narrow them down with appropriate ancillary studies.

Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders.

Introduction: Lysosomal storage disorders (LSDs) are rare disorders and pose a diagnostic challenge for clinicians owing to their generalized symptomatology. In this study, we aim to classify LSDs into two broad categories, namely, Gaucher disease (GD) and Niemann-Pick/Niemann-Pick-like diseases (NP/NP-like diseases) based on the morphology of the storage cells in the bone marrow (BM) aspiration smears and trephine biopsy sections. Materials and Method: This retrospective study includes 32 BM specimens morphologically diagnosed as LSDs at our institute, in the last 10 years. Subsequently, they were subclassified into GD and NP/NP-like diseases. Further, we have compared and analyzed the clinical, hematological, and biochemical parameters for the two groups of LSDs. Results: Based on BM morphology, 59.4% (n = 19) cases were diagnosed as NP/NP-like diseases and 40.6% (n = 13) cases as GD. Abdominal distension and failure to thrive were the most common clinical manifestations in both groups of LSDs. Anemia and thrombocytopenia were frequently seen in either of the LSDs. On the assessment of metabolic profile, elevated total/direct bilirubin and liver enzymes were more commonly seen in NP/NP-like diseases when compared with GD. Conclusion: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. The hallmark findings on BM biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an underresourced setting.

Cytologic Categorization with Risk Stratification of Endoscopic Ultrasound-Guided Fine Needle Aspiration from Pancreatic Lesions Based on Guidelines of the Papanicolaou Society of Cytopathology: 12-Year Tertiary Care Experience.

BACKGROUND AND AIMS: Pancreatic malignancy is an important cause of cancer mortality worldwide. Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) plays a crucial role in the pre-operative diagnosis of pancreatic lesions. In this study, we have analyzed the cytological spectrum of pancreatic lesions in the Indian population over 12 years, categorized them according to the Papanicolaou Society of Cytopathology System for Reporting Pancreaticobiliary Cytology (PSCPC), and assessed the risk of malignancy (ROM) for each of the categories. METHODS: A computerized data search from January 2008 to December 2019 revealed 581 pancreatic EUS-FNA samples, among which surgical follow-up was available for 73 cases. All cytological specimens were reviewed and prospectively classified into one of the six diagnostic categories proposed by the PSCPC. Subsequently, a cytohistological correlation was performed and the ROM was calculated for each category. RESULTS: The cytologic diagnoses included 50 nondiagnostic (category I), 175 negative for malignancy (category II), 19 atypical (category III), 27 neoplastic:benign (category IVA), 30 neoplastic:other (category IVB), 26 suspicious (category V), and 254 malignant (category VI) cases. ROM for non-diagnostic aspirates, nonneoplastic benign specimens, atypical cases, neoplastic:benign, neoplastic:other, suspicious for malignancy, and the malignant category was 16.7%, 7.1%, 33.3%, 0.0%, 20.0%, 100%, and 78.6%, respectively. CONCLUSION: We document an increased risk of malignancy from category I to category VI of the PSCPC. The malignancy risk for category VI (malignant) was statistically significant in our study but was lower in comparison to the values reported by other authors. Nonetheless, such an approach would establish transparent communication between the pathologist and the clinician, as well as aid the clinician in decision making, particularly in intermediate categories.

Solitary Fibrous Tumor of the Prostate: A Diagnostic Challenge: A Case Report.

Solitary fibrous tumor (SFT) of prostate is an unusual type of mesenchymal neoplasm that can elicit a benign or malignant phenotype. It represents a diagnostic challenge as it can simulate poorly differentiated adenocarcinoma and various mesenchymal neoplasms of prostate. We report a case of prostate SFT in a 54-year-old patient, which was clinically misdiagnosed as nodular hyperplasia of prostate with cystitis. However, on follow-up, he was not relieved by the designated treatment. Furthermore, he complained of exacerbation of symptoms and consequently, had to undergo open prostatectomy. Based on histopathological and immunohistochemical (IHC) assessment, a diagnosis of SFT of the prostate was rendered. Additionally, we have discussed the histological mimics of SFT and the diagnostic and prognostic importance of IHC while evaluating such lesions.

Fallopian Tube Carcinoma In-situ in Endometrial Curettage.

Primary fallopian tube carcinomas (PFTC) are rare tumors with non-specific clinical presentations. The current case was unique since the tumor was first detected on endometrial curettage and clinicoradiologically was misdiagnosed as endometrial carcinoma. A 48-year-old, post-menopausal female presented with one episode of vaginal bleeding. Endometrial curettage showed poorly differentiated carcinoma, while cervicovaginal Papanicolaou (Pap) smear was negative for malignant cells. Right sided fallopian tube carcinoma in-situ was diagnosed on histopathological examination of surgical hysterectomy with B/L salpingo-oophorectomy specimen. As observed in the current case, unusual tumor histology with broad papillary fronds lined by pleomorphic cells showing nuclear stratification and focal involvement of endometrial curettage specimen may be considered a useful pointer for tubal malignancy.