• The Journal of pediatrics · Aug 2013

    Case Reports

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

    • Holly Lindsay, Rima F Jubran, Larry Wang, Benjamin R Kipp, and William A May.
    • Department of Pediatrics, Children's Center for Cancer and Blood Diseases, Children's Hospital of Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
    • J. Pediatr. 2013 Aug 1; 163 (2): 601-3.

    AbstractWe 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.

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