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* Context.--Epithelioid angiomyolipomas (eAMLs) are rare tumors of the kidney that occur in patients with tuberous sclerosis complex or in a sporadic setting; a subset of these tumors exhibit metastatic behavior. Objective.--To analyze molecular profiling data to identify pathogenic alterations in rare cases of metastatic eAML, and to identify immunohistochemistry (IHC)-based surrogate markers. Design.--Molecular profiling data from the American Association for Cancer Research GENIE registry was accessed for 23 patients with angiomyolipomas, and 9 of 16 patients with eAMLs in our institutional registry were evaluated with next-generation sequencing. IHC was performed to screen for alterations of P53, RB, and ATRX for all 16 institutional cases. Results.--Combined alterations of 5 tumor-suppressor genes (TP53, ATRX, RB1, APC, and NF1) were identified using next-generation sequencing in 7 of 8 (88%) patients with metastatic disease compared to a single patient with nonmetastatic disease (RB1 variant of uncertain significance; 1 of 24, 4%). No cases with abnormal IHC results were identified in 11 patients with nonmetastatic disease compared to 3 of 5 patients with metastatic disease. Conclusions.--Our results show that the majority of metastatic eAMLs have mutations of 5 tumor-suppressor genes (TP53, ATRX, RB1, APC, and NF1), while these are rare in patients with nonmetastatic disease. Furthermore, IHC for P53, RB, and ATRX may serve as a screen for a subset of these alterations in resource-limited settings. These findings, if validated in larger data sets, have the potential to predict metastatic behavior in eAMLs. (Arch Pathol Lab Med. 2023;147:817-825; doi: 10.5858/ arpa.2022-0127-OA), Renal angiomyolipomas (AMLs) are mesenchymal neoplasms that are typically comprised of spindle cells arising from thick-walled vessels, intermixed with variable amounts of adipose tissue; they frequently express markers such as [...]

This article reports on two cases of testicular sclerosing stromal tumors (SSTs) that show GLI1 gene alterations. SSTs are neoplasms that were first described in the ovary in 1973 and are characterized by lobulated microscopic appearance. The patients in these cases were aged 35 and 65 years and presented with testicular masses. The tumors demonstrated large areas of hypocellular myxoid/oedematous stroma with scattered hypercellular areas. Both tumors expressed nuclear GLI1. The article suggests that these findings support the existence of rare SSTs in the testis and their potential pathogenesis related to ovarian SSTs. [Extracted from the article]

Celiac disease is an immune-mediated disorder triggered by hypersensitivity to gluten occurring in genetically susceptible individuals. A high-index of suspicion is needed for diagnosis as patients can be asymptomatic or present with atypical symptoms or extra-intestinal manifestations. Typical 18F-Fluorodeoxyglucose (FDG) Positron Emission Tomography (PET)/Computed Tomography (CT) gastrointestinal manifestations of celiac disease include increased multifocal or diffuse jejunal and ileal uptake; focal duodenal uptake is less common. Splenomegaly with increased splenic FDG uptake is also uncommon in celiac disease in the absence of portal hypertension; small-sized spleen and functional hyposplenism are more typical. We report a case of celiac disease diagnosed after PET/CT showed FDG uptake in the duodenum and enlarged spleen. Follow-up after gluten-free diet showed complete metabolic resolution and regression of splenomegaly. The combination of focal bowel and splenic uptake is unusual in celiac disease and may be mistaken for a lymphoproliferative disorder. Awareness of this entity may avoid misdiagnosis and guide appropriate management. [ABSTRACT FROM AUTHOR]

Molecular investigations have led to increased therapeutic options for prostatic adenocarcinoma. A single case report of a PRPSAP1::NTRK3 gene fusion occurring in prostate cancer was previously reported. A review of the literature revealed that NTRK gene rearrangements are exceedingly rare molecular events in prostate cancer. NTRK gene fusions can be oncogenic drivers or develop as resistance mechanisms. The tumor-agnostic approvals of TRK inhibitors by the FDA provide additional rationale for molecular investigations of aggressive prostatic adenocarcinomas. This may prove to be an additional therapeutic option for patients with aggressive prostatic carcinomas refractory to initial therapy. We report a case of an aggressive castrate-resistant prostatic adenocarcinoma with a BMP6::NTRK3 gene fusion. [ABSTRACT FROM AUTHOR]