دورية أكاديمية
Testicular Neoplasms With Sex Cord and Stromal Components Harbor a Recurrent Pattern of Chromosomal Gains.
| العنوان: | Testicular Neoplasms With Sex Cord and Stromal Components Harbor a Recurrent Pattern of Chromosomal Gains. |
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| المؤلفون: | Acosta AM; Department of Pathology, Brigham and Women's Hospital, Harvard, Medical School, Boston, Massachusetts; Department of Pathology, Indiana University, Indianapolis, Indiana. Electronic address: anmaacos@iu.edu., Sholl LM; Department of Pathology, Brigham and Women's Hospital, Harvard, Medical School, Boston, Massachusetts., Maclean F; Department of Pathology, Douglass Hanly Moir Pathology, Sonic Healthcare, Sydney, Australia., Kao CS; Department of Pathology, Stanford University, Stanford, California., Ulbright TM; Department of Pathology, Indiana University, Indianapolis, Indiana. |
| المصدر: | Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc [Mod Pathol] 2024 Jan; Vol. 37 (1), pp. 100368. Date of Electronic Publication: 2023 Oct 21. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 8806605 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0285 (Electronic) Linking ISSN: 08933952 NLM ISO Abbreviation: Mod Pathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2023- : [New York] : Elsevier Inc. Original Publication: Baltimore, MD : Williams & Wilkins, c1988- |
| مواضيع طبية MeSH: | Ovarian Neoplasms*/genetics , Ovarian Neoplasms*/pathology , Sertoli-Leydig Cell Tumor*/genetics , Sertoli-Leydig Cell Tumor*/pathology , Testicular Neoplasms*/pathology , Sex Cord-Gonadal Stromal Tumors*/genetics , Sex Cord-Gonadal Stromal Tumors*/chemistry , Sex Cord-Gonadal Stromal Tumors*/pathology, Male ; Female ; Humans ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Chromosome Aberrations ; Ribonuclease III/genetics ; DEAD-box RNA Helicases/genetics |
| مستخلص: | A small subset of testicular sex cord-stromal tumors, designated as Sertoli-stromal cell tumors (SSCTs), comprises a mixture of Sertoli, spindle, and/or Leydig cells. The clinicopathologic features of these tumors have not been studied in any detail, and their molecular features are unknown. We, therefore, assessed the morphologic and genomic features of 14 SSCTs, including 1 tumor with features similar to the ovarian Sertoli-Leydig cell tumor (SLCT) with retiform tubules. The median age of the patients was 24 years (range, 10-55 years), and the median tumor size was 2.3 cm (range, 0.7-4.7 cm). All tumors showed Sertoli-like sex cord cells arranged in variably developed tubular structures, typically also forming nests and cords. These imperceptibly blended with a neoplastic spindle cell stroma or, in the SLCT, vacuolated to eosinophilic Leydig cells. Genomic analysis demonstrated the presence of a hotspot loss-of-function DICER1 mutation in the SLCT (patient 1) and hotspot gain-of-function CTNNB1 mutations in the tumors of patients 2 and 3, with both CTNNB1 variants being interpreted as possible subclonal events. The mutations were the only relevant findings in the tumors of patients 1 and 2, whereas the tumor of patient 3 harbored concurrent chromosomal arm-level and chromosome-level copy number gains. Among the remaining 11 tumors, all of those that had interpretable copy number data (9 tumors) harbored multiple recurrent chromosomal arm-level and chromosome-level copy number gains suggestive of a shift in ploidy without concurrent pathogenic mutations. The results of the present study suggest that CTNNB1 mutations (likely subclonal) are only rarely present in SSCTs; instead, most of them harbor genomic alterations similar to those seen in testicular sex cord-stromal tumors with pure or predominant spindle cell components. A notable exception was a testicular SLCT with morphologic features identical to the ovarian counterpart, which harbored a DICER1 mutation. (Copyright © 2023 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Sertoli cell tumor; Sertoli-Leydig cell tumor; Sertoli-stromal cell tumor; genitourinary; sex cord-stromal tumor; testis |
| المشرفين على المادة: | EC 3.1.26.3 (DICER1 protein, human) EC 3.1.26.3 (Ribonuclease III) EC 3.6.4.13 (DEAD-box RNA Helicases) |
| SCR Disease Name: | Androblastoma of ovary |
| تواريخ الأحداث: | Date Created: 20231023 Date Completed: 20240122 Latest Revision: 20240122 |
| رمز التحديث: | 20240122 |
| DOI: | 10.1016/j.modpat.2023.100368 |
| PMID: | 37871653 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-0285 |
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| DOI: | 10.1016/j.modpat.2023.100368 |