Literature DB >> 23582141

Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2.

Holly Lindsay1, Rima F Jubran, Larry Wang, Benjamin R Kipp, William A May.   

Abstract

We describe a 12-year-old girl, simultaneously presenting with colonic adenocarcinoma and medulloblastoma from bialleic deletions in the mismatch repair gene PMS2. Her distinctive physical and clinical findings are characteristic of constitutional mismatch repair deficiency syndrome. Earlier recognition of such findings may permit better screening and more effective treatment.
Copyright © 2013 Mosby, Inc. All rights reserved.

Entities:  

Keywords:  CMMR-D; Constitutional mismatch repair-deficiency; MRI; Magnetic resonance imaging

Mesh：

Substances：

Year:  2013        PMID： 23582141      PMCID： PMC3862975          DOI： 10.1016/j.jpeds.2013.03.007

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  11 in total

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