Novel HMGA2-YAP1 fusion gene in aggressive angiomyxoma

BMJ Case Rep. 2019 May 28;12(5):e227475. doi: 10.1136/bcr-2018-227475.


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.

Keywords: gynecological cancer; therapeutic indications.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adult
  • Anastrozole / therapeutic use
  • Antineoplastic Agents / therapeutic use
  • Aromatase Inhibitors / therapeutic use
  • Diagnosis, Differential
  • Estrogen Antagonists / therapeutic use
  • Female
  • HMGA2 Protein / genetics*
  • Humans
  • Leuprolide / therapeutic use
  • Magnetic Resonance Imaging
  • Myxoma / drug therapy
  • Myxoma / genetics*
  • Myxoma / surgery
  • Rare Diseases
  • Transcription Factors / genetics*
  • Translocation, Genetic / genetics
  • Treatment Outcome
  • Vulvar Neoplasms / drug therapy
  • Vulvar Neoplasms / genetics*
  • Vulvar Neoplasms / surgery
  • YAP-Signaling Proteins


  • Adaptor Proteins, Signal Transducing
  • Antineoplastic Agents
  • Aromatase Inhibitors
  • Estrogen Antagonists
  • HMGA2 Protein
  • HMGA2 protein, human
  • Transcription Factors
  • YAP-Signaling Proteins
  • YAP1 protein, human
  • Anastrozole
  • Leuprolide