Mixed and other sex cord stromal tumors
2023-05-04 Andres M. Acosta, MD Affiliation1.Department of Pathology, Indiana University, Indianapolis, IN
Classification
Definition
This category includes tumors comprising mode than one sex cord-stromal component (e.g., both Leydig and Sertoli cells), tumors with pure signet ring cytomorphology, neoplasms that cannot be classified into specific histologic subtypes and a recently described entity termed myoid gonadal stromal tumor. Except for myoid gonadal stromal tumors, these neoplasms demonstrate markedly heterogeneous phenotypic features. 1
| Mixed and other sex cord stromal tumors | Genetic Event(s) |
|---|---|
| Mixed sex cord stromal tumor | A subset of tumors with combinations of Sertoli and Leydig cell components harbor CTNNB1 or APC mutations and may represent Sertoli cell tumors with entrapped nonneoplastic Leydig cells. 1 |
| Signet ring stromal tumor | A subset is associated with gain-of-function CTNNB1 mutations. 2 |
| Myoid gonadal stromal tumor | Characterized by absence of recurrent somatic mutations;however, they exhibit a recurrent pattern of chromosomal arm-level and chromosome-level copy number gains (chrmosomes 3, 6, 7, 8, 9, 11, 12, 14q, 15q, 17, 18q, 20, 21q), consistent with ploidy shifts. 3,4 |
| Sex cord stromal tumor NOS | Molecularly heterogeneous. Recurrent CTNNB1 mutations and chromosomal gains suggestive of ploidy shifts are present in specific subsets. 1 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 36180576 | 2022 | Clinicopathologic and molecular spectrum of testicular sex cord-stromal tumors not amenable to specific histopathologic subclassification. | Siegmund SE et al |
| 2 | 28739499 | 2017 | Primary signet ring stromal tumor of the testis: a study of 13 cases indicating their phenotypic and genotypic analogy to pancreatic solid pseudopapillary neoplasm. | Michalova K et al |
| 3 | 33140129 | 2021 | Myoid gonadal tumor. Case series, systematic review, and Bayesian analysis. | Renne SL et al |
| 4 | 36226695 | 2023 | Myoid gonadal stromal tumours are characterised by recurrent chromosome-level copy number gains: molecular assessment of a multi-institutional series. | Collins K et al |
Citation
Andres M. Acosta, MD
Mixed and other sex cord stromal tumors
Atlas Genet Cytogenet Oncol Haematol. 2023-05-04
Online version: http://atlasgeneticsoncology.org/solid-tumor/209124/mixed-and-other-sex-cord-stromal-tumors
