Novel HMGA2-YAP1 fusion gene in aggressive angiomyxoma.

Authors :: Lee MY
da Silva B
Ramirez DC
Maki RG
Source :: BMJ case reports [BMJ Case Rep] 2019 May 28; Vol. 12 (5). Date of Electronic Publication: 2019 May 28.
Publication Year :: 2019
Abstract: We describe a case of a 44-year-old woman with locally advanced aggressive angiomyxoma with a novel translocation high-mobility group AT-hook 2-yes-associated protein 1 ( HMGA2-YAP1 ) fusion, implying a t(11;12)(q22.1;q14.3) translocation. She was started on gonadotropin-releasing hormone agonist injection and an aromatase inhibitor for persistent disease, which responded to treatment; she was subsequently treated with radiation before a more definitive operation was conducted. This case report indicates that HGMA2-YAP1- translocated aggressive angiomyxoma is responsive to oestrogen antagonism and hopefully will allow for the development of diagnostics useful for this rare but often morbid neoplasm. This case also highlights the importance of appropriate workup of a soft tissue mass.<br />Competing Interests: Competing interests: RGM has received consulting fees from Foundation Medicine within the last 5 years.<br /> (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)