Nature Communications (Jun 2018)
KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary
Abstract
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.