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Brain tumors in individuals with familial adenomatous polyposis
A cancer registry experience and pooled case report analysis
Article first published online: 19 JAN 2007
Copyright © 2007 American Cancer Society
Volume 109, Issue 4, pages 761–766, 15 February 2007
How to Cite
Attard, T. M., Giglio, P., Koppula, S., Snyder, C. and Lynch, H. T. (2007), Brain tumors in individuals with familial adenomatous polyposis. Cancer, 109: 761–766. doi: 10.1002/cncr.22475
- Issue published online: 2 FEB 2007
- Article first published online: 19 JAN 2007
- Manuscript Accepted: 13 NOV 2006
- Manuscript Revised: 5 NOV 2006
- Manuscript Received: 4 OCT 2006
- brain tumor polyposis;
- familial adenomatous polyposis;
- APC pediatric
Most individuals with Familial Adenomatous Polyposis (FAP) harbor mutations in the APC gene on chromosome 5q21. They are at an increased risk of brain tumors, including cerebellar medulloblastoma, when compared with the general population (Brain Tumor Polyposis—BTP Type 2). Genotype-phenotype correlations between APC gene mutations and central nervous system (CNS) tumors have, thus far not been successful. Herein the authors have pooled their registry experience in BTP type 2 with the published reports.
The authors analyzed their established hereditary CRC Registry for brain tumors in FAP pedigrees (56 families, 213 individuals), pooled their patients with BTP and known APC mutations with those reported thus far elsewhere, and compared the resulting mutation distribution of FAP-BTP with the mutation distribution for APC mutations in the US.
Twenty-eight patients from 24 families were accrued, the most common brain tumor in BTP was medulloblastoma (60%) predominantly in females (12:5) under the age of 20 (mean age 14.7 SD 9.2). Other histologic subtypes included astrocytoma and ependymoma. Analysis of the pooled APC mutation data by Chi-square test of association shows an odds ratio of 3.7 (P < .005) for all brain tumor subtypes and 13.1 (P < .001) for medulloblastoma in patients harboring segment 2 APC mutation (codons 679–1224) compared to nonsegment 2 mutation.
In patients with FAP and identifiable APC gene mutation, CNS tumors, especially medulloblastoma which developed in most cases during childhood, are more common in females with FAP and APC gene mutation in codons 686–1217. Further studies are necessary to determine if this observation and the natural history of medulloblastoma in children justifies novel, aggressive, targeted screening of at—risk individuals. Cancer 2007 © 2007 American Cancer Society.