Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies | Zendy

Walter Andrew W. | Zendy; Ennis Sara | Zendy; Best Hunter | Zendy; Vaughn Cecily P. | Zendy; Swensen Jeffrey J. | Zendy; Openshaw Amanda | Zendy; Gripp Karen W. | Zendy

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Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies

Author(s) -

Walter Andrew W.,

Ennis Sara,

Best Hunter,

Vaughn Cecily P.,

Swensen Jeffrey J.,

Openshaw Amanda,

Gripp Karen W.

Publication year - 2013

Publication title -

pediatric blood and cancer

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.116

H-Index - 105

eISSN - 1545-5017

pISSN - 1545-5009

DOI - 10.1002/pbc.24613

Subject(s) - medicine , childhood cancer , pediatrics , intensive care medicine , cancer

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 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

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