Abstract
Childhood brain tumours may be due to germline bi-allelic mismatch repair (MMR) gene mutations in MLH1, MSH2, MSH6 or PMS2. These mutations can also lead to colorectal neoplasia and haematological malignancies. Here, we review this syndrome and present siblings with early-onset rectal adenoma and papillary glioneural brain tumour, respectively, due to novel germline bi-allelic PMS2 mutations. Identification of MMR protein defects can lead to early diagnosis of this condition. In addition, assays for these defects may help to classify brain tumours for research protocols aimed at targeted therapies.
2011 John Wiley & Sons A/S.
MeSH terms
-
Adenoma / diagnosis
-
Adenoma / genetics*
-
Adenoma / pathology
-
Adenosine Triphosphatases* / genetics
-
Age of Onset
-
Brain Neoplasms / diagnosis
-
Brain Neoplasms / genetics*
-
Brain Neoplasms / pathology
-
Child
-
Colorectal Neoplasms / diagnosis
-
Colorectal Neoplasms / genetics*
-
Colorectal Neoplasms / pathology
-
DNA Mismatch Repair
-
DNA Mutational Analysis
-
DNA Repair Enzymes* / genetics
-
DNA-Binding Proteins* / genetics
-
Female
-
Germ-Line Mutation*
-
Glioma / diagnosis
-
Glioma / genetics*
-
Glioma / pathology
-
Heterozygote
-
Humans
-
Male
-
Microsatellite Repeats
-
Mismatch Repair Endonuclease PMS2
-
Pedigree
-
Siblings
-
Syndrome
-
Young Adult
Substances
-
DNA-Binding Proteins
-
Adenosine Triphosphatases
-
PMS2 protein, human
-
Mismatch Repair Endonuclease PMS2
-
DNA Repair Enzymes