Clinicopathologic and molecular spectrum of testicular sex cord-stromal tumors not amenable to specific histopathologic subclassification.

Autor: Siegmund SE; Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Sholl LM; Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Tsai HK; Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Yang Y; Department of Pathology, NYU Langone Health, New York, NY, USA., Vasudevaraja V; Department of Pathology, NYU Langone Health, New York, NY, USA., Tran I; Department of Pathology, NYU Langone Health, New York, NY, USA., Snuderl M; Department of Pathology, NYU Langone Health, New York, NY, USA., Fletcher CDM; Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Cornejo KM; Department of Pathology, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA., Idrees MT; Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA., Al-Obaidy KI; Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA., Collins K; Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA., Gordetsky JB; Department of Pathology, Vanderbilt University Medical Center/Vanderbilt University, Nashville, TN, USA., Wobker SE; Department of Pathology, University of North Carolina Medical Center/University of North Carolina, Chapel Hill, NC, USA., Hirsch MS; Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Trpkov K; Department of Pathology, Rockyview General Hospital/University of Calgary, Calgary, AB, Canada., Yilmaz A; Department of Pathology, Rockyview General Hospital/University of Calgary, Calgary, AB, Canada., Anderson WJ; Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA., Quiroga-Garza G; Department of Pathology, University of Pittsburgh Medical Center Shadyside, Pittsburgh, PA, USA., Magi-Galluzzi C; Department of Pathology, The University of Alabama at Birmingham, Birmingham, Alabama, UK., Canete-Portillo S; Department of Pathology, The University of Alabama at Birmingham, Birmingham, Alabama, UK., Acosta AM; Department of Pathology, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, USA. aacosta4@bwh.harvard.edu.
Jazyk: angličtina
Zdroj: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc [Mod Pathol] 2022 Dec; Vol. 35 (12), pp. 1944-1954. Date of Electronic Publication: 2022 Sep 30.
DOI: 10.1038/s41379-022-01155-y
Abstrakt: A subset of testicular sex cord-stromal tumors (SCST), which includes neoplasms with mixed histology, cannot be classified into a specific histologic subtype. This study evaluated the clinicopathologic, immunophenotypic and molecular features of 26 SCST not amenable to specific classification by expert uropathologists. Median age at diagnosis was 43 years and median tumor size was 2.4 cm. Follow-up information was available for 18 (69%) patients, with evidence of an aggressive clinical course in 6 patients (4 alive with disease, 2 dead of disease 3 months and 6 months after orchiectomy). Microscopically, SCST not amenable to specific classification demonstrated monophasic epithelioid (9/26, 35%), monophasic spindle cell (5/26, 19%), and biphasic or mixed histology (12/26, 46%). One or more aggressive histopathologic features were seen in 11 cases. DNA sequencing was successful in 22 tumors. Pathogenic CTNNB1 and APC alterations were seen in 7 (33%) and 2 (10%) cases, respectively, with additional variants (e.g., CDKN2A, RB1, TP53, BRCA2) being identified in individual cases. Combined evaluation of morphology, sequencing data and beta-catenin immunohistochemistry resulted in reclassification of 6 (23%) tumors as Sertoli cell tumor, not otherwise specified. This was supported by comparing the methylation profiles of a subset of these tumors and those of typical Sertoli cell tumors. Additionally, a subset of 5 neoplasms (19%) with spindle cell or biphasic histology and SMA expression was characterized by hyperdiploid genomes with recurrent chromosomal gains and absence of driver mutations, possibly representing a distinct tumor type. The SCST that remained not amenable to specific histologic classification (15/26, 58%) were enriched for aggressive histologic features and malignant clinical behavior. In conclusion, this study demonstrated that a subset of testicular SCST that were originally not amenable to specific classification could be reclassified by combined evaluation of morphology, immunohistochemistry and molecular data.
(© 2022. The Author(s), under exclusive licence to United States & Canadian Academy of Pathology.)
Databáze: MEDLINE
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