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Case Reports
. 2011 Dec 1;57(6):1067-70.
doi: 10.1002/pbc.23217. Epub 2011 Jun 14.

High-grade brain tumors in siblings with biallelic MSH6 mutations

Denisa Ilencikova  1 , Daniela Sejnova, Jana Jindrova, Pavel Babal
Affiliations
Case Reports

High-grade brain tumors in siblings with biallelic MSH6 mutations

Denisa Ilencikova et al. Pediatr Blood Cancer. .

Abstract

Biallelic germline mutations of Constitutional mismatch repair-deficiency syndrome (CMMR-D) genes, MLH1, MSH2, MSH6, and PMS2 are characterized by increased risk of childhood malignancy. We report a case with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri and T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review on brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Identification of patients with CMMR-D is critical, and specific cancer screening programs with early surgery are recommended.

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