High-grade Endometrial Stromal Sarcoma: Morphologic and Clinical Features, the Role of Immunohistochemistry and Fluorescence in Situ Hybridization in Diagnosis.

Introduction. High-grade endometrial stromal sarcomas (HGESS) are rare malignant mesenchymal tumors of the uterus with aggressive poor clinical outcome, which frequently exhibit YWHAE::NUTM2 and ZC3H7B::BCOR fusions. In this study, we aimed to investigate HGESSs with YWHAE and BCOR translocations through our archive materials, and to identify morphological, immunohistochemical and molecular features of these tumors. We also assessed the diagnostic value of BCOR immunohistochemistry (IHC) in HGESSs, low-grade endometrial stromal sarcomas (LGESS) and uterine leiomyosarcomas. Methods. One hundred fifty-one uterine sarcomas diagnosed between 2000-2019 were reevaluated, and tumors of 39 patients with specific features were included in the study. Fluorescence in situ hybridization (FISH) studies using YWHAE and BCOR break-apart probes and BCOR IHC were performed. BCOR IHC was also performed in 20 leiomyosarcomas and 19 LGESSs. Results. In six HGESSs, translocations involving YWHAE or BCOR were detected. Five tumors showed high-grade morphology and revealed YWHAE translocation. One HGESS with myxoid morphology revealed BCOR translocation. In immunohistochemistry, three (3/4) YWHAE translocated HGESSs showed BCOR expression. However, the BCOR translocated HGESS was BCOR negative. The study showed that all LGESSs were immunohistochemically negative with BCOR. Although 15% (3/20) leiomyosarcomas reveal focal weak-moderate BCOR expression. Conclusion. BCOR IHC is a useful marker to distinguish LGESS from HGESS. A small percentage of uterine leiomyosarcomas reveal BCOR expression; however, it is not as diffuse and strong as in HGESSs. Strong and diffuse BCOR IHC expression is highly suggestive for HGESS. The diagnosis of HGESS should be supported by molecular studies such as FISH.

TMC8 mutation in a Turkish family with epidermodysplasia verruciformis including laryngeal papilloma and recurrent skin carcinoma.

The vast majority of primary immunodeficiencies (PIDs) occur due to the defects in cells originating from hematopoietic stem cells, while in some PIDs, there are defects in various genes responsible for non-leucocyte immune response such as seen in epidermodysplasia verruciformis (EV). EV caused by the mutations in TMC6, TMC8, and CIB1 genes is called "typical." "Atypical" EV may develop in patients with primary immunodeficiencies originating from hematopoietic stem cells, which include severe T-cell failure, caused by inactivating biallelic mutations of STK4, RHOH, CORO1A, ITK, TPP2, DCLRE1C, LCK, RASGRP1, or DOCK8 genes. Here, we present a family with TMC8 gene mutation leading to disseminated epidermodysplasia verruciformis including laryngeal papilloma and recurrent cutaneous squamous cell carcinomas. Typical EV with impaired local, keratinocyte-intrinsic immune response should be considered when routine immunological examinations are normal in patients presenting with clinical signs of EV. Although it is not possible to prevent EV lesions, early and appropriate surveillance for malignancy is mandatory.

Gout tophus in transferred tendons after 33 years: A case report.

Surgical site gout is an extremely rare complication that is difficult to diagnose, particularly in patients without a history of gout. A 57-year-old male patient was admitted with no previous history of gout, complaining of surgical site gout located at the junction where flexor carpi ulnaris tendon was transferred to extensor digitorum communis tendon after 33 years of the initial surgery. The patient was presented with a progressive swelling over the last three months which was located on the dorsoulnar side of the right wrist joint. Magnetic resonance imaging revealed an iso/hypointense mass. During the excisional biopsy, retained non-absorbable suture materials were observed within the mass. Histopathological examination result was reported as a typical gout tophus. No recurrence was observed after 18 months of follow-up. In conclusion, surgical site gout may be observed at transferred tendons years after the initial surgery.

The role of Tc-99m MIBI scintigraphy in clinical T1 renal mass assessment: Does it have a real benefit?

INTRODUCTION: Despite the increasing accuracy of imaging modalities, the rate of benign renal tumors misclassified as malignant before surgery still non-negligible. Tc-99m sestamibi was demonstrated to be a possible reliable agent in discriminating oncocytoma from renal cell carcinoma (RCC). We aimed to study the efficacy of Tc-99m MIBI tumor scintigraphy in evaluating clinical T1 renal masses. METHODS AND MATERIALS: Between July 2017 and March 2019, patients with clinical T1 renal mass underwent preoperative Tc-99m sestamibi tumor scintigraphy. Tc-99m sestamibi tumor scintigraphy findings were correlated with the postoperative pathology results. RESULTS: A total of 90 renal masses were included in the study. Male to female ratio was 67/23. The mean age and tumor size were 55.5 ± 11.4 years and 4 ± 1.4 cm, respectively. In pathological evaluation, 20% (18/90) of masses were reported as benign (10 oncocytomas, 4 angiomyolipomas (AML), 2 chronic sclerosis, 1 fibroma and 1 hydatid cyst). While Tc-99m sestamibi uptake was positive in all oncocytomas; 6 patients with chronic sclerosis, fibroma, hydatid cyst and angiomyolipoma pathologies had no uptake. Except for 5 chromophobe cell RCC and 3 oncocytic papillary RCC masses, malignant lesions had no uptake. In predicting benign pathology, Tc-99m sestamibi tumor scintigraphy had positive and negative predictive value of 60% and 91.3%, respectively. The mean Tc-99m 2-methoxy isobutyl isonitrile lesion/normal renal parenchyma ratio of benign and malignant lesions was 0.6 and 0.37, respectively. A relative uptake of 0.49 was an acceptable cutoff point to discriminate oncocytomas from all other pathologies. CONCLUSION: Tc-99m sestamibi tumor scintigraphy has a beneficial role in the assessment of clinical T1 renal mass. Masses with negative uptake harbor high probability of being malignant. While evaluating masses with positive uptake, it should be kept in mind that some malignant pathologies may demonstrate similar results.