Novel HMGA2-YAP1 fusion gene in aggressive angiomyxoma

Lee, M. Y., da Silva, B., Ramirez, D. C., Maki, R. G. (May 2019) Novel HMGA2-YAP1 fusion gene in aggressive angiomyxoma. BMJ Case Rep, 12 (5). ISSN 1757-790x

URL: https://www.ncbi.nlm.nih.gov/pubmed/31142482

DOI: 10.1136/bcr-2018-227475

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.

Item Type:	Paper
Subjects:	bioinformatics diseases & disorders > cancer bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > DNA translocation diseases & disorders bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics diseases & disorders > neoplasms bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification therapies therapies > cancer drugs - see diseases-cancer-drugs and therapies bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types > transcription factor
CSHL Authors:	Maki, Robert
Communities:	CSHL labs > Maki lab
Depositing User:	Matthew Dunn
Date:	28 May 2019
Date Deposited:	06 Jun 2019 20:23
Last Modified:	02 Feb 2024 16:43
PMCID:	PMC6557357
Related URLs:	https://casereports.bmj.com/content/12/5...
URI:	https://repository.cshl.edu/id/eprint/38068

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