An Unusual Enteric Yolk Sac Tumor: First Report of an Ovarian Germ Cell Tumor Associated With a Germline Pathogenic Variant in DICER1

W. Glenn McCluggage, Lili Fu, Kristen Mohler, Leanne de Kock, Nelly Sabbaghian, Allison Mindlin, Colin J. R. Stewart, C. Blake Gilks, William D. Foulkes

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

A variety of unusual tumors are associated with both germline and somatic DICER1 pathogenic variants (PVs), including, in the female genital tract, embryonal rhabdomyosarcoma at various sites and ovarian Sertoli-Leydig cell tumor. There have been occasional reported cases of ovarian germ cell tumors [mainly yolk sac tumor (YST)] harboring DICER1 PVs but, as far as we are aware, none of these has been proven to have a germline provenance. We report an unusual enteric variant of ovarian YST in a 28-yr-old woman associated with a germline PV c.901C>T (p.Gln301Ter) in exon 7 of DICER1, accompanied by a somatic (YST-only) hotspot mutation: c.5437G>A, p.E1813K. To our knowledge, this is the first report of an ovarian germ cell tumor associated with a germline DICER1 PV. We review other reported cases of ovarian germ cell tumor with DICER1 PVs and discuss the differential diagnosis of this unusual variant of YST which was originally diagnosed as a mucinous adenocarcinoma.

Original languageEnglish
Pages (from-to)349-355
Number of pages7
JournalInternational Journal of Gynecological Pathology
Volume41
Issue number4
DOIs
Publication statusPublished - Jul 2022

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