GLI1 gene alterations in neoplasms of the genitourinary and gynecologic tract Journal Article
| Authors: | Argani, P.; Boyraz, B.; Oliva, E.; Matoso, A.; Gross, J.; Fridman, E.; Zhang, L.; Dickson, B. C.; Antonescu, C. R. |
| Article Title: | GLI1 gene alterations in neoplasms of the genitourinary and gynecologic tract |
| Abstract: | We report 4 neoplasms of the kidney (2 cases) and uterus (2 cases) harboring rearrangements or amplifications of the GLI1 gene, which because of their unusual clinical presentation, morphology, and immunoprofile mimicked other neoplasms, causing significant diagnostic challenge. The neoplasms occurred in 4 female patients ages 33 to 88 years. Histologically they all demonstrated nodular growth, solid architecture, bland epithelioid to ovoid-spindle cells with pale cytoplasm set in a variably myxoid or hyalinized stroma. One uterine tumor also demonstrated a focal round cell pattern, while another demonstrated focal pleomorphism. Unlike most previously reported neoplasms with these genetic abnormalities, the neoplasms in the current series were negative for S100 protein and minimally reactive for actin. All labeled for CD10 and cyclin D1, while 2 labeled for estrogen receptor and BCOR and 1 labeled for desmin, raising consideration of endometrial stromal sarcoma, myxoid leiomyosarcoma, metastatic breast carcinoma, and glomus tumor. One renal neoplasm demonstrated a GLI1-FOXO4 gene fusion and the other harbored a GLI1 gene rearrangement (unknown partner). The 2 uterine neoplasms exhibited GLI1 gene amplifications. GLI1-altered neoplasms (particularly those with GLI1 amplification) show variable morphology and lack a consistent immunophenotype, and thus may trigger diagnostic challenges which can be resolved by molecular testing. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved. |
| Keywords: | adult; aged; aged, 80 and over; middle aged; genetics; endometrial neoplasms; pathology; tumor marker; gene fusion; uterus cancer; uterine neoplasms; endometrium tumor; transcription factor gli1; endometrium sarcoma; sarcoma, endometrial stromal; glomus tumor; very elderly; humans; human; male; female; biomarkers, tumor; gli1 protein, human; zinc finger protein gli1 |
| Journal Title: | American Journal of Surgical Pathology |
| Volume: | 46 |
| Issue: | 5 |
| ISSN: | 0147-5185 |
| Publisher: | Lippincott Williams & Wilkins |
| Date Published: | 2022-05-01 |
| Start Page: | 677 |
| End Page: | 687 |
| Language: | English |
| DOI: | 10.1097/pas.0000000000001844 |
| PUBMED: | 34907995 |
| PROVIDER: | scopus |
| PMCID: | PMC9018467 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 2 May 2022 -- Source: Scopus |
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