Nature Communications (Jun 2018)

KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary

  • R. Tyler Hillman,
  • Joseph Celestino,
  • Christopher Terranova,
  • Hannah C. Beird,
  • Curtis Gumbs,
  • Latasha Little,
  • Tri Nguyen,
  • Rebecca Thornton,
  • Samantha Tippen,
  • Jianhua Zhang,
  • Karen H. Lu,
  • David M. Gershenson,
  • Kunal Rai,
  • Russell R. Broaddus,
  • P. Andrew Futreal

DOI
https://doi.org/10.1038/s41467-018-04950-x
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 7

Abstract

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Adult-type granulosa cell tumors of the ovary (aGCTs) are rare and recurrence is difficult to treat. Here, the authors observe in aGCT a novel recurrent somatic truncating mutation of KMT2D, more frequent in recurrent aGCT, and also non-genetic loss of KMT2D expression.