Abstract:
: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.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Hillman RT,Celestino J,Terranova C,Beird HC,Gumbs C,Little L,Nguyen T,Thornton R,Tippen S,Zhang J,Lu KH,Gershenson DM,Rai K,Broaddus RR,Futreal PAdoi
10.1038/s41467-018-04950-xsubject
Has Abstractpub_date
2018-06-27 00:00:00pages
2496issue
1issn
2041-1723pii
10.1038/s41467-018-04950-xjournal_volume
9pub_type
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