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Adult-type granulosa cell tumors of the ovary (aGCTs) are rare gynecologic malignancies that exhibit a high frequency of somatic  FOXL2  c.C402G (p.Cys134Trp) mutation. Treatment of relapsed aGCT remains a significant clinical challenge. Here we show, using whole-exome and cancer gene panel sequencing of 79 aGCTs from two independent cohorts, that truncating mutation of the histone lysine methyltransferase gene  KMT2D  (also known as  MLL2 ) is a recurrent somatic event in aGCT. Mono-allelic  KMT2D -truncating mutations are more frequent in recurrent (10/44, 23%) compared with primary (1/35, 3%) aGCTs ( p  = 0.02, two-sided Fisher’s exact test). IHC detects additional non- KMT2D -mutated aGCTs with loss of nuclear KMT2D expression, suggesting that non-genetic  KMT2D  inactivation may occur in this tumor type. These findings identify  KMT2D  inactivation as a novel driver event in aGCTs and suggest that mutation of this gene may increase the risk of disease recurrence.

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