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Huepenbecker SP, Divine L, Chu CS, Mutch DG
Two sisters with Mayer-Rokitansky-Kuster-Hauser syndrome and serous adenocarcinoma of the ovary
Gynecol Oncol Rep (2017) 22:13-15.
BACKGROUND: Mayer-Rokitansky-Kuster-Hauser syndrome is a rare entity with proposed genetic underpinnings. Ovarian carcinoma has well-described genetic associations and syndromes, although much of the etiology of the disease remains unknown. CASES: Two sisters present in the 1970s with primary amenorrhea, 46, XX karyotypes, and absent uteri consistent with MRKH syndrome. In the 2010s, both sisters again present for care. Case 1 presents one sister with stage IIIC serous ovarian adenocarcinoma and negative BRCA panel. Case No 2 presents the other sister with stage IIIC serous ovarian adenocarcinoma and a negative panel for 32 genetic variants associated with ovarian carcinoma. CONCLUSION: The familial association of two rare diseases and negative genetic workup could point to a new genetic understanding of reproductive structure development and ovarian carcinogenesis.
MeSH terms
Publication Date: 2017-11-01.
PMCID: PMC5596329
Last updated on Tuesday, July 03, 2018