دورية أكاديمية
Cystic MED15::TFE3 translocation renal cell carcinoma: histologic mimicker of multilocular cystic renal neoplasm of low malignant potential with review of the literature.
| العنوان: | Cystic MED15::TFE3 translocation renal cell carcinoma: histologic mimicker of multilocular cystic renal neoplasm of low malignant potential with review of the literature. |
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| المؤلفون: | Doytcheva K; Department of Pathology, The University of Chicago, IL, 60637, USA., Gallan AJ; Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, 53226, USA., Wang P; Department of Pathology, The University of Chicago, IL, 60637, USA., Wanjari P; Department of Pathology, The University of Chicago, IL, 60637, USA., Segal J; Department of Pathology, The University of Chicago, IL, 60637, USA., Antic T; Department of Pathology, The University of Chicago, IL, 60637, USA. Electronic address: Tatjana.Antic@uchosptials.edu. |
| المصدر: | Human pathology [Hum Pathol] 2023 Jun; Vol. 136, pp. 25-33. Date of Electronic Publication: 2023 Mar 28. |
| نوع المنشور: | Review; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: W B Saunders Country of Publication: United States NLM ID: 9421547 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8392 (Electronic) Linking ISSN: 00468177 NLM ISO Abbreviation: Hum Pathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Philadelphia, PA : W B Saunders Original Publication: Philadelphia, W B. Saunders Co. |
| مواضيع طبية MeSH: | Carcinoma, Renal Cell*/diagnosis , Carcinoma, Renal Cell*/genetics , Carcinoma, Renal Cell*/pathology , Cysts*/genetics , Kidney Neoplasms*/diagnosis , Kidney Neoplasms*/genetics , Kidney Neoplasms*/chemistry, Humans ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/metabolism ; Chromosomes, Human, X/metabolism ; Mediator Complex/genetics ; Translocation, Genetic |
| مستخلص: | Presented are four cystic renal masses which harbored a MED15::TFE3 gene fusion detected by RNAseq, mimicking multilocular cystic neoplasm of low malignant potential. Clinicopathologic and outcomes data were collected for all cases. Radiologically, three cases were diagnosed as complex cystic masses and one case as a renal cyst, three years prior to surgery. The tumors ranged in size from 1.8 to 14.5 cm. Grossly, all masses were extensively cystic. Microscopically, cells with a clear or minimally granular cytoplasm and nuclei with inconspicuous nucleoli lined the cysts' septa. Focally, small mass-forming aggregates of malignant cells were present between septae and were associated with psammomatous calcifications. In case one, apparent prior cyst wall rupture was associated with reactive changes and cystic spaces filled with fibrin clots. Two of the tumors were staged as T1a, one as T1b, and the other as T2b. By immunohistochemistry, the tumors were positive for TFE3, MelanA, and P504S, with apical CD10 while CAIX and CK7 were negative. RNA sequencing was performed on all cases revealing a MED15::TFE3 gene fusion. The patients were alive and without evidence of disease 11-49 months (mean 29.5) after partial nephrectomy. To date, 12 of the 15 MED15::TFE3 fusion renal cell carcinomas published in the literature are cystic, with three being extensively cystic. Thus, if a multilocular cystic renal neoplasm is encountered in a kidney specimen, translocation renal cell carcinoma should be included in the differential diagnosis as cystic MED15::TFE3 tRCCs carry an uncertain prognosis making recognition for future characterization necessary. (Copyright © 2023 Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Cystic mass; Kidney; MED15::TFE3 gene fusion; RNA sequencing; Xp11 translocation |
| المشرفين على المادة: | 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors) 0 (MED15 protein, human) 0 (Mediator Complex) 0 (TFE3 protein, human) |
| تواريخ الأحداث: | Date Created: 20230330 Date Completed: 20230531 Latest Revision: 20230531 |
| رمز التحديث: | 20230531 |
| DOI: | 10.1016/j.humpath.2023.03.008 |
| PMID: | 36997032 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1532-8392 |
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| DOI: | 10.1016/j.humpath.2023.03.008 |