Year 2022 / Volume 114 / Number 12
Letter
Biallelic mismatch repair deficiency – A rare and troublesome genetic syndrome

750-751

DOI: 10.17235/reed.2022.8928/2022

Diana Ramos, Catarina Brandão, Cátia Sousa, Mário Dinis-Ribeiro,

Abstract
Biallelic mismatch repair deficiency (BMMRD) is a rare autosomal recessive disorder characterized by numerous early-onset cancers, especially gastrointestinal tumors. Biallelic germline mutations in one of four mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2) cause this devastating disease. Given the rarity of the syndrome, often-asymptomatic tumors, diagnosis is frequently unrecognized or delayed. A high degree of clinical awareness is needed to identify new cases. Immunohistochemical assessment of MMR protein expression and analysis of microsatellite instability are the first tools with which to initiate the study of this syndrome in solid malignancies. MMR immunohistochemical shows a hallmark pattern with absence of staining in both neoplastic and non-neoplastic cells for the biallelic mutated gene. We present a unique case of a young boy diagnosed with invasive colon adenocarcinoma and brain tumor, with classical BMMRD features, found to have biallelic pathogenic PMS2 mutations.
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References
H QR, Syngal S. Biallelic Mismatch Repair Deficiency: Management and Prevention of a Devastating Manifestation of the Lynch Syndrome. Gastroenterology. 2017;152(6):1254-7.
Sijmons RH, Hofstra RMW. Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations. DNA repair. 2016;38:155-62.
Durno C, Boland CR, Cohen S, et al. Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. The American journal of gastroenterology. 2017;112(5):682-90.
Durno CA, Sherman PM, Aronson M, Malkin D, Hawkins C, Bakry D, et al. Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome. European journal of cancer (Oxford, England : 1990). 2015;51(8):977-83
Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. The American journal of gastroenterology. 2010;105(11):2449-56.
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Ramos D, Brandão C, Sousa C, Dinis-Ribeiro M. Biallelic mismatch repair deficiency – A rare and troublesome genetic syndrome. 8928/2022


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Publication history

Received: 12/05/2022

Accepted: 13/05/2022

Online First: 31/05/2022

Published: 12/12/2022

Article Online First time: 19 days

Article editing time: 214 days


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