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CASE REPORT
Novel HMGA2-YAP1 fusion gene in aggressive angiomyxoma
  1. Mee-young Lee1,
  2. Brandon da Silva2,
  3. Daniel C Ramirez3,4 and
  4. Robert G Maki1,5
  1. 1 Cancer Institute, Northwell Health, Lake Success, New York, USA
  2. 2 Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, New York, USA
  3. 3 Pathology, Northwell Health, Lake Success, New York, USA
  4. 4 Pathology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, New York, USA
  5. 5 Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
  1. Correspondence to Professor Robert G Maki, bobmakimd{at}gmail.com

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.

  • therapeutic indications
  • gynecological cancer
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Footnotes

  • Contributors All authors contributed to data collection, analysis of the results and writing of the manuscript. RGM, M-yL and DCR were responsible for clinical aspects of patient care. All authors discussed the results and contributed to the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests RGM has received consulting fees from Foundation Medicine within the last 5 years.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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