Biallelic mismatch repair deficiency A rare and troublesome genetic syndrome
Rev. esp. enferm. dig
; 114(12): 750-751, diciembre 2022.
Article
in En
| IBECS
| ID: ibc-213536
Responsible library:
ES1.1
Localization: ES15.1 - BNCS
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. (AU)
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Collection:
06-national
/
ES
Database:
IBECS
Main subject:
Colorectal Neoplasms
/
Colorectal Neoplasms, Hereditary Nonpolyposis
/
Gastrointestinal Neoplasms
Limits:
Humans
/
Male
Language:
En
Journal:
Rev. esp. enferm. dig
Year:
2022
Document type:
Article