+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient

Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient

Journal of Pediatric Hematology/Oncology 31(2): 113-115

An 8-year-old male with lymphoblastic lymphoma was noted to have multiple café-au-lait macules and possible Lisch nodules. Work-up revealed the child as compound heterozygous for mutations in the DNA mismatch repair gene, MSH6. This case emphasizes many clinical issues regarding individuals with biallelic mismatch repair mutations, a rare and easily missed hereditary predisposition to childhood cancer. The issues include the need for high clinical suspicion based on skin examination findings and family history, the phenotypic similarity to neurofibromatosis type 1 with possibility of misdiagnosis, the high risk for subsequent malignances, and the need for further research of possible treatment resistance.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 052269077

Download citation: RISBibTeXText

PMID: 19194194

DOI: 10.1097/mph.0b013e31818b3774

Related references

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. European Journal of Human Genetics 14(5): 561-566, 2006

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. American Journal of Medical Genetics. Part a 146a(10): 1314-1319, 2008

Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia. Pediatric Blood and Cancer 55(3): 550-553, 2010

Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda. British Journal of Dermatology 160(4): 878-880, 2009

Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. Blood 117(16): 4399-4400, 2011

Compound heterozygosity of novel insulin receptor mutations in a patient with leprechaunism. Diabetologia 40(Suppl. 1): A164, 1997

Compound heterozygosity for Fp subunit mutations causes complex II deficiency in a patient with encephalomyopathy. American Journal of Human Genetics 65(4): A427, 1999

Elevated Hb A₂ Levels in a Patient with a Compound Heterozygosity for the (β⁺) -31 (A > G) and (β⁰) Codon 17 (A > T) Mutations Together with a Single α-Globin Gene. Hemoglobin 39(4): 292-295, 2015

Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient. British Journal of Haematology 152(6): 780-783, 2011

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report. Italian Journal of Pediatrics 43(1): 94, 2017

Compound heterozygosity for two novel missense mutations in the prothrombin gene in a patient with a severe bleeding tendency. Thrombosis and Haemostasis 77(4): 610-615, 1997

A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris. Neuromuscular Disorders 22(4): 355-360, 2012

Compound heterozygosity for factor V and methylenetetrahydrofolate reductase mutations in a patient with Budd-Chiari syndrome. Journal of Gastroenterology and Hepatology 21(4): 782-783, 2006

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria. Journal of Inherited Metabolic Disease 13(5): 684-686, 1990

Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia. Human Mutation Suppl 1: S141-S144, 1998