Molecular analysis of renal/adrenal angiosarcomas reveals high frequency of recurrent genetic alterations Journal Article
| Authors: | Argani, P.; Saoud, C.; Antonescu, C. |
| Article Title: | Molecular analysis of renal/adrenal angiosarcomas reveals high frequency of recurrent genetic alterations |
| Abstract: | Angiosarcomas of the kidney and adrenal gland are rare, highly aggressive vascular neoplasms. Their genomic profile has not been systematically studied to date. We report the clinicopathologic and molecular features of six angiosarcomas centered in the kidney/adrenal gland. All patients were male adults, ranging from 58 to 77 years of age. Tumor sizes ranged from 2.5 to 22.5 cm. Half of the cases demonstrated hot spot mutations in the KDR gene, while one-third demonstrated mutations in the PIK3CA gene; both of these gene alterations being previously described, preferentially in breast angiosarcomas. In addition, two cases each demonstrated BRIP1 gene amplification, CTNNB1 and ETV6 mutations, which have not been previously reported in angiosarcoma. Notably, molecular studies were critical in establishing the correct diagnoses in three cases: one was an epithelioid angiosarcoma originally misdiagnosed as metastatic adenocarcinoma to the adrenal gland, the second was a vasoformative angiosarcoma that mimicked hemangioma, and the third was a collision tumor between a high-grade angiosarcoma and a chromophobe renal cell carcinoma which was originally diagnosed as a sarcomatoid renal cell carcinoma. In summary, angiosarcomas of the kidney and adrenal gland have a high frequency of recurrent genetic alterations, some of them being shared with other angiosarcoma subtypes, while other appear to be novel. In particular, activating hot spot KDR and PIK3CA mutations represent potential therapeutic targets for these highly aggressive cancers. © 2024 Wiley Periodicals LLC. |
| Keywords: | adult; clinical article; human tissue; aged; middle aged; cancer surgery; dna binding protein; gene mutation; genetics; mutation; dna-binding proteins; clinical feature; cancer recurrence; doxorubicin; cancer combination chemotherapy; gemcitabine; adjuvant therapy; molecular genetics; antineoplastic agent; cancer diagnosis; cancer grading; colorectal cancer; gene; multiple cycle treatment; gene amplification; pathology; vasculotropin receptor 2; angiosarcoma; hemangiosarcoma; vascular endothelial growth factor receptor-2; phosphatidylinositol 3 kinase; kidney neoplasms; nephrectomy; docetaxel; adrenal cortex carcinoma; liver metastasis; kidney; partial nephrectomy; kidney tumor; colon cancer; cancer size; diagnostic error; genomics; cancer classification; genetic screening; beta catenin; repressor protein; repressor proteins; follicular lymphoma; pik3ca gene; ctnnb1 protein, human; hemangioma; adrenal tumor; adrenal gland neoplasms; transcription factor ets; transcription factor etv6; molecular diagnosis; disease activity; adrenalectomy; proto-oncogene proteins c-ets; phosphatidylinositol 3-kinases; adrenal; chromophobe renal cell carcinoma; kidney sarcoma; next generation sequencing; genetic modification; ctnnb1 gene; breast angiosarcoma; brip1 gene; capecitabine plus oxaliplatin; pik3ca protein, human; phosphatidylinositol 4,5 bisphosphate 3 kinase; humans; human; male; article; sarcomatoid renal cell carcinoma; cyclophosphamide plus doxorubicin plus prednisolone plus rituximab plus vincristine; kdr gene; etv6 gene; class i phosphatidylinositol 3-kinases; kdr protein, human; ets translocation variant 6 protein; adrenal sarcoma; adrenal surgery; disease hotspot |
| Journal Title: | Genes Chromosomes and Cancer |
| Volume: | 63 |
| Issue: | 9 |
| ISSN: | 1045-2257 |
| Publisher: | Wiley Periodicals, Inc |
| Date Published: | 2024-09-01 |
| Start Page: | e23268 |
| Language: | English |
| DOI: | 10.1002/gcc.23268 |
| PUBMED: | 39248552 |
| PROVIDER: | scopus |
| PMCID: | PMC12118094 |
| DOI/URL: | |
| Notes: | Article -- MSK Cancer Center Support Grant (P30 CA008748) acknowledged in PubMed and PDF -- Source: Scopus |
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