B-cell acute lymphoblastic leukemia with high mutation burden presenting in a child with constitutional mismatch repair deficiency

Author:

Oshrine Benjamin1,Grana Nanette1,Moore Colin1,Nguyen Johnny1,Crenshaw Melissa1,Edwards Melissa2,Sudhaman Sumedha2,Forster Victoria J.2,Tabori Uri2

Affiliation:

1. Johns Hopkins All Children’s Hospital, St. Petersburg, FL; and

2. The Hospital for Sick Children, Toronto, ON, Canada

Abstract

Key Points Constitutional mismatch repair deficiency syndrome should be considered in children with acute leukemia and characteristic skin lesions. The high mutation burden of CMMRD-related cancers contributes to treatment resistance, necessitating individualized treatment strategies.

Publisher

American Society of Hematology

Subject

Hematology

Reference18 articles.

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2. Genetic predisposition to acute lymphoblastic leukemia: overview on behalf of the I-BFM ALL Host Genetic Variation Working Group;Kratz;Eur J Med Genet,2016

3. Preexisting conditions in pediatric ALL patients: spectrum, frequency and clinical impact;Schütte;Eur J Med Genet,2016

4. DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution;Rosenthal;Genome Biol,2016

5. Deciphering signatures of mutational processes operative in human cancer;Alexandrov;Cell Reports,2013

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