[MIM 276 300]

Acronym for Constitutional MisMatch Repair Deficiency

Autosomal recessive transmission of mutations of the mismatch repair genes MLH1, MSH2, MSH6 and PMS2. This results in cancers of the hematological system, of the central nervous system, of the colon (Lynch syndrome, see this term) and of the endometrium, and in rhabdomyosarcomas, or embryonic tumours. Sometimes there are café-au-lait spots and other features of von Recklinghausen disease.

Anesthetic implications:

child with cancer; side-effects of chemotherapy

References :

-        Lavoine N, Colas C, Muleris M, Bodo S, Duval A et al.
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort 
J Med Genet 2015; 52: 770-8.

-        Jongmans MCJ, Loeffen JLCM, Waanders E et al.
Recognition of genetic disposition in pediatric cancer patients : an easy-to-use detection tool.
Eur J Med Genet 20106; 59: 116-25.

Updated: December 2017