Biallelic Mismatch Repair Deficiency in an Adolescent Female

Case Reports in Genetics
Amber HildrethSherry C Huang

Abstract

Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life. Biallelic germline variants in one of four mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) cause this devastating disease. Given the rarity of the syndrome, often-asymptomatic tumors, and overlap with neurofibromatosis-1, diagnosis is frequently unrecognized or delayed. We present a unique case of a 14-year-old female with minimal gastrointestinal symptoms diagnosed with invasive adenocarcinoma secondary to biallelic PMS2 variants.

References

Apr 14, 2007·Canadian Journal of Gastroenterology = Journal Canadien De Gastroenterologie·C A Durno
May 6, 2010·Haematologica·Katharina Wimmer, Christian P Kratz
Jun 10, 2010·The American Journal of Gastroenterology·Carol A DurnoSteven Gallinger
Mar 8, 2011·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Johanna C HerkertRolf H Sijmons
Sep 21, 2013·Journal of Pediatric Gastroenterology and Nutrition·Sherry C HuangSteven H Erdman
Apr 17, 2014·Journal of Medical Genetics·Katharina WimmerUNKNOWN EU-Consortium Care for CMMRD (C4CMMRD)
Apr 18, 2015·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Carol A DurnoUNKNOWN International BMMRD Consortium
Jan 10, 2016·DNA Repair·Rolf H Sijmons, Robert M W Hofstra

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Methods Mentioned

BETA
hysterectomy

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