Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café‐au‐lait macules (CALM) and other NF1 signs, but no germline NF1 mutations.

[1]  L. Messiaen,et al.  Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1 , 2017, Clinical genetics.

[2]  P. Devilee,et al.  Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome , 2016, Human mutation.

[3]  Aung Ko Win,et al.  Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer , 2016, Cancer Epidemiology, Biomarkers & Prevention.

[4]  C. Hawkins,et al.  High frequency of mismatch repair deficiency among pediatric high grade gliomas in Jordan , 2014, International journal of cancer.

[5]  C. Hawkins,et al.  Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome. , 2015, European journal of cancer.

[6]  Michael J. McGuffin,et al.  A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype , 2015, Journal of Medical Genetics.

[7]  P. Møller,et al.  Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. , 2015, Journal of Clinical Oncology.

[8]  A. Duval,et al.  Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD) , 2014, Journal of Medical Genetics.

[9]  D. Halley,et al.  A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands , 2014, Clinical genetics.

[10]  C. Hawkins,et al.  Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. , 2014, European journal of cancer.

[11]  A. Duval,et al.  Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D) , 2014, Journal of Medical Genetics.

[12]  D. Bonthron,et al.  Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome , 2013, Human mutation.

[13]  J. Mecklin,et al.  Colorectal surveillance in Lynch syndrome families , 2013, Familial Cancer.

[14]  S. Gallinger,et al.  Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow‐up of a kindred , 2012, Pediatric blood & cancer.

[15]  E. Zackai,et al.  Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. , 2009, JAMA.

[16]  Bhramar Mukherjee,et al.  Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. , 2009, Gastroenterology.

[17]  A. Fischer,et al.  Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination , 2008, The Journal of experimental medicine.

[18]  K. Wimmer,et al.  Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? , 2008, Human Genetics.

[19]  S. Huson.  The Neurofibromatoses: Classification, Clinical Features and Genetic Counselling , 2008 .

[20]  R. Buckley.  Immunoglobulin G subclass deficiency: Fact or fancy? , 2002, Current allergy and asthma reports.

[21]  E. Keeffe,et al.  Treatment strategies for chronic hepatitis C: Update since the 1997 National Institutes of Health Consensus Development Conference , 1999, Journal of gastroenterology and hepatology.

[22]  Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. , 1988, Archives of neurology.