Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies. Issue 11 (1st June 2013)

• Record Type: Journal Article
• Authors: Walter, Andrew W.; Ennis, Sara; Best, Hunter; Vaughn, Cecily P.; Swensen, Jeffrey J.; Openshaw, Amanda; Gripp, Karen W.
• Is Part Of: Pediatric blood & cancer. Volume 60:Issue 11(2013:Nov.)
• Page Start: E135
• Page End: E136
• Publication Date: 2013-06-01
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24613
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="pbc24613-sec-0001" sec-type="section"> <p>A 13‐year‐old child presented with three simultaneous malignancies: glioblastoma multiforme, Burkitt lymphoma, and colonic adenocarcinoma. She was treated for her diseases without success and died 8 months after presentation. Genetic analysis revealed a homozygous mutation in the <italic>PMS2</italic> gene, consistent with constitutional mismatch repair deficiency. Her siblings and parents were screened: three of four siblings and both parents were heterozygous for this mutation; the fourth sibling did not have the &lt;!‐‐mutation. Pediatr Blood Cancer 2013;60:E135–E136. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>