A rapidly growing cutaneous malignant glomus tumor with a CCND3 mutation
- PMID: 36059094
- DOI: 10.1111/cup.14324
A rapidly growing cutaneous malignant glomus tumor with a CCND3 mutation
Abstract
Glomus tumors are rare mesenchymal neoplasms composed of cells resembling the glomus body. They are most frequently seen in subungual regions but have been reported to arise in almost every anatomic location. Malignant glomus tumors, also called glomangiosarcomas, of cutaneous origin are exceedingly rare with only 47 reported cases. The genetic alterations that lead to the development of cutaneous malignant glomus tumors are not well understood. Small studies report glomus tumors with mutations in glomulin (GLMN), NF1, BRAF, NOTCH, PDGFRB, KRAS, and SMARCB1. These mutations have mostly been studied in deep or visceral glomus tumors. We report a case of a cutaneous malignant glomus tumor with a CCND3 point mutation identified on next generation sequencing, without any of the previously described genetic mutations. CCND3 mutations that cause cyclin D3 amplification may prove to be targets for CDK4/6 inhibitors in the treatment of malignant glomus tumors.
Keywords: CCND3 mutation; cutaneous; cyclin D3; glomangiosarcoma; malignant glomus tumor.
© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
References
REFERENCES
-
- Gombos Z, Zhang PJ. Glomus tumor. Arch Pathol Lab Med. 2008;132(9):1448-1452. doi:10.5858/2008-132-1448-GT
-
- Masson P. Le glomus neuromyo-artérial des régions tactiles et ses tumeurs. Lyon Chir. 1924;21:257-280. https://babel.hathitrust.org/cgi/pt?id=uc1.b4085453&view=1up&seq...
-
- Fletcher CDM. WHO Classification of Tumours of Soft Tissue and Bone. 4th ed. International Agency for Research on Cancer; 2013.
-
- Cibull TL, Gleason BC, O'Malley DP, Billings SD, Wiersema P, Hiatt KM. Malignant cutaneous glomus tumor presenting as a rapidly growing leg mass in a pregnant woman. J Cutan Pathol. 2008;35(8):765-769. doi:10.1111/j.1600-0560.2007.00898.x
-
- Luzar B, Martin B, Fisher C, Calonje E. Cutaneous malignant glomus tumours: applicability of currently established malignancy criteria for tumours occurring in the skin. Pathology. 2018;50(7):711-717. doi:10.1016/j.pathol.2018.08.005
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