Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome

Am Surg. 2023 Sep;89(9):3953-3955. doi: 10.1177/00031348231173987. Epub 2023 Jun 1.


Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder that has little more than 200 total cases reported as of 2020. Whereas a single mutation in genes responsible for mismatch repair causes the autosomal dominant Lynch syndrome (LS), CMMRD is caused by biallelic heterozygous defects: distinct deleterious mutations on each allele for a single gene. As the disease is exceedingly rare and may present via a wide variety of signs, including neurofibromatosis type 1- and Lynch Syndrome-associated malignancies, diagnosis and subsequent surveillance are complex with suggested methods published by the International Replication Repair Deficiency Consortium. We report here the history and management of a patient whose newly diagnosed CMMRD was managed with both curative and prophylactic surgical treatment.

Keywords: Lynch syndrome; colorectal; constitutional mismatch repair deficiency syndrome.

MeSH terms

  • Brain Neoplasms* / diagnosis
  • Brain Neoplasms* / genetics
  • Colorectal Neoplasms* / diagnosis
  • Colorectal Neoplasms* / genetics
  • Colorectal Neoplasms* / therapy
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis* / therapy
  • Humans
  • Mutation
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Neoplastic Syndromes, Hereditary* / genetics
  • Neoplastic Syndromes, Hereditary* / therapy

Supplementary concepts

  • Turcot syndrome