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Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases

M. Farcaş, Z. Gatalica, K. Trpkov, J. Swensen, M. Zhou, R. Alaghehbandan, SR. Williamson, C. Magi-Galluzzi, AJ. Gill, M. Tretiakova, JI. Lopez, DP. Montiel, M. Sperga, E. Comperat, F. Brimo, A. Yilmaz, F. Siadat, A. Sangoi, Y. Gao, N. Ptákova, L....

. 2022 ; 35 (3) : 344-351. [pub] 20210914

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc22019311

A distinct renal tumor has recently been described as "high-grade oncocytic renal tumor" and "sporadic renal cell carcinoma with eosinophilic and vacuolated cytoplasm". The Genitourinary Pathology Society (GUPS) consensus proposed a unifying name "eosinophilic vacuolated tumor" (EVT) for this emerging entity. In this multi-institutional study, we evaluated 19 EVTs, particularly their molecular features and mutation profile, using next-generation sequencing. All cases were sporadic and none of the patients had a tuberous sclerosis complex. There were 8 men and 11 women, with a mean age of 47 years (median 50; range 15-72 years). Average tumor size was 4.3 cm (median 3.8 cm; range 1.5-11.5 cm). All patients with available follow-up data (18/19) were alive and without evidence of disease recurrence or progression during the follow-up, ranging from 12 to 198 months (mean 56.3, median 41.5 months). The tumors were well circumscribed, but lacked a well-formed capsule, had nested to solid growth, focal tubular architecture, and showed ubiquitous, large intracytoplasmic vacuoles, round to oval nuclei, and prominent nucleoli. Immunohistochemically, cathepsin K, CD117, CD10, and antimitochondrial antigen were expressed in all cases. Other positive stains included: PAX8, AE1/AE3 and CK18. CK7 was typically restricted only to rare scattered cells. Vimentin, HMB45, melan-A, and TFE3 were negative in all cases. All tumors showed retained SDHB. All cases (19/19) showed non-overlapping mutations of the mTOR pathway genes: TSC1 (4), TSC2 (7), and MTOR (8); one case with MTOR mutation showed a coexistent RICTOR missense mutation. Low mutational rates were found in all samples (ranged from 0 to 6 mutations/Mbp). Microsatellite instability and copy number variations were not found in any of the 17 analyzable cases. EVT represents an emerging renal entity that shows a characteristic and readily identifiable morphology, consistent immunohistochemical profile, indolent behavior, and mutations in either TSC1, TSC2, or MTOR genes.

Cancer Diagnosis and Pathology Group Kolling Institute of Medical Research Royal

Caris Life Sciences Phoenix AZ USA

Department of Biology and Medical Genetics 2nd Faculty of Medicine Charles University Prague and Motol University Hospital Prague Czech Republic

Department of Pathology Alfa Medical Bratislava Slovakia

Department of Pathology and Laboratory Medicine Cumming School of Medicine University of Calgary Calgary Alberta Canada

Department of Pathology British Columbia University Vancouver Canada

Department of Pathology Charles University Medical Faculty and Charles University Hospital Plzen Plzen Czech Republic

Department of Pathology Colentina Clinical Hospital Bucharest Romania

Department of Pathology Cruces University Hospital Biocruces Bizkaia Institute Barakaldo Spain

Department of Pathology El Camino Hospital Mountain View CA USA

Department of Pathology Heath Science Centre St John's NL Canada

Department of Pathology Institute Nacional de Cancerologia Mexico City Mexico

Department of Pathology McGill University Montreál QC Canada

Department of Pathology Oklahoma University School of Medicine Oklahoma USA

Department of Pathology School of Medicine University of Alabama Birmingham AL USA

Department of Pathology Sorbonne Université Service d'Anatomie et Cytologie Pathologiques Hôpital Tenon Paris France

Department of Pathology Stradin ́s University Riga Latvia

Department of Pathology Tufts Medical Center Boston MA USA

Department of Pathology Universitätsklinikum Hamburg Eppendorf Hamburg Germany

Department of Pathology University Hospital Nitra Nitra Slovakia

Department of Pathology University Hospital Ostrava Ostrava Czech Republic

Department of Pathology University of Erlangen Erlangen Germany

Department of Pathology University of Szeged Szeged Hungary

Department of Pathology University of Toronto Toronto ON Canada

Department of Pathology University of Vienna Vienna Austria

Department of Pathology University of Washington School of Medicine Seattle WA USA

Department of Urology Charles University Medical Faculty and Charles University Hospital Plzen Plzen Czech Republic

Department of Urology University of Erlangen Erlangen Germany

North Shore Hospital St Leonards NSW Australia

NSW Health Pathology Department of Anatomical Pathology Royal North Shore Hospital St Leonards NSW Australia

Onco Team Diagnostic Bucharest Romania

Robert J Tomsich Pathology and Laboratory Medicine Institute Cleveland Clinic Cleveland OH USA

University of Sydney Sydney NSW Australia 2006

Citace poskytuje Crossref.org

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