High-grade brain tumors in siblings with biallelic MSH6 mutations

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 i...

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Bibliographic Details
Published in:	Pediatric blood & cancer Vol. 57; no. 6; pp. 1067 - 1070
Main Authors:	Ilencikova, Denisa, Sejnova, Daniela, Jindrova, Jana, Babal, Pavel
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-12-2011
Subjects:	Alleles Brain Neoplasms - genetics Brain Neoplasms - pathology Child childhood T-NHL constitutional mismatch repair-deficiency syndrome (CMMR-D) DNA Repair-Deficiency Disorders - genetics DNA Repair-Deficiency Disorders - pathology DNA-Binding Proteins - genetics Female Glioblastoma - genetics high-grade brain tumors Humans Male MSH6 Mutation Pedigree Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics Siblings
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Summary:	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. Pediatr Blood Cancer 2011; 57: 1067–1070. © 2011 Wiley‐Liss, Inc.
Bibliography:	This article was published online June 14, 2011. An error was subsequently identified with the author list. Tomas Slamka was incorrectly listed as an author on this paper. The author list should have been published as follows: Denisa Ilencikova MD, PhD, Daniela Sejnova MD, Jana Jindrova MD, Pavel Babal MD, PhD. This notice is included in the online and print versions to indicate that both have been corrected July 13, 2011. ark:/67375/WNG-2MK8HNGM-V Conflict of interest: Nothing to declare. istex:8078DDADF0A28B1B23DC49A6D938CB72781E77A0 ArticleID:PBC23217 Professor Associate Professor ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1545-5009 1545-5017 1545-5017
DOI:	10.1002/pbc.23217