-
Pediatric blood & cancer · Nov 2013
Case ReportsConstitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.
- Andrew W Walter, Sara Ennis, Hunter Best, Cecily P Vaughn, Jeffrey J Swensen, Amanda Openshaw, and Karen W Gripp.
- Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania; Department of Pediatrics, A. I. duPont Hospital for Children, Wilmington, Delaware.
- Pediatr Blood Cancer. 2013 Nov 1; 60 (11): E135-6.
AbstractA 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 PMS2 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 mutation.Copyright © 2013 Wiley Periodicals, Inc.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..