Endometrial/endometrioid stromal tumors with extensive whorling and CTNNB1 translocation: A report of 3 cases Journal Article
| Authors: | Boyraz, B.; da Cruz Paula, A.; Deveraux, K. A.; Tran, I.; da Silva, E. M.; Young, R. H.; Snuderl, M.; Weigelt, B.; Oliva, E. |
| Article Title: | Endometrial/endometrioid stromal tumors with extensive whorling and CTNNB1 translocation: A report of 3 cases |
| Abstract: | Endometrial/endometrioid stromal tumors are rare and morphologically heterogenous, and their diagnosis may be challenging. We identified 3 endometrial/endometrioid stromal tumors with identical and previously undescribed histologic features and herein report their morphologic, immunohistochemical, and molecular profiles. Patients were 53, 62, and 79 years. Tumors were well-circumscribed, tan-yellow solid masses measuring 10.0, 11.0, and 18.7 cm, and were intramyometrial (n=2) or in the broad ligament (n=1). All showed small, tight whorls of epithelioid to slightly spindled tumor cells with minimal cytoplasm and negligible mitoses, multifocally associated with hyalinization and myxoid change set in a loose fibroblastic background with small, delicate vessels. This morphology was seen throughout in 1 tumor and in ∼20% and 70% of the 2 others with the remaining areas showing sex cord-like differentiation. Tumor cells expressed CD10 (3/3, 1 focal), calretinin (3/3 diffuse), WT1 (3/3 diffuse), estrogen receptor (1/1, diffuse). RNA-sequencing was successful in 1 tumor and revealed a GREB1-CTNNB1 in-frame fusion. All 3 tumors harbored a CTNNB1 translocation by fluorescence in situ hybridization correlating with nuclear β-catenin expression. Whole-genome DNA methylation analysis classified all 3 tumors within the low-grade endometrial stromal sarcoma reference class with flat copy number profiles. One patient (79-y-old) died of unrelated causes 2 months after surgery and the other 2 were alive without disease after 13 and 75 months. We have described a rare subset of endometrial/endometrioid stromal tumors with extensive whorling and a CTNNB1 translocation, expanding the morphologic and molecular spectrum of these neoplasms. © 2023 Lippincott Williams and Wilkins. All rights reserved. |
| Keywords: | genetics; case report; endometrial neoplasms; mitosis; metabolism; in situ hybridization, fluorescence; pathology; tumor marker; fluorescence in situ hybridization; beta catenin; endometrium tumor; ctnnb1 protein, human; endometrial stromal tumor; beta-catenin; endometrium sarcoma; sarcoma, endometrial stromal; endometrial stromal tumors; ctnnb1; humans; human; female; biomarkers, tumor |
| Journal Title: | American Journal of Surgical Pathology |
| Volume: | 47 |
| Issue: | 11 |
| ISSN: | 0147-5185 |
| Publisher: | Lippincott Williams & Wilkins |
| Date Published: | 2023-11-01 |
| Start Page: | 1285 |
| End Page: | 1290 |
| Language: | English |
| DOI: | 10.1097/pas.0000000000002094 |
| PUBMED: | 37584555 |
| PROVIDER: | scopus |
| PMCID: | PMC11180543 |
| DOI/URL: | |
| Notes: | Article -- Source: Scopus |
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