Germline Mutations Associated with Leukemia in Childhood: New Discoveries and Emerging Phenotypes

Author:

Bannon Sarah A.,Foglesong Jessica,DiNardo Courtney D.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Reference21 articles.

1. Holmfeldt L, Wei L, Diaz-Flores E, Walsh M, Zhang J, Ding L, et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet. 2013;45(3):242–52.

2. • Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373(24):2336–46. Zhang et al. explored germline susceptibility to cancer in a very large series of children with cancers. A combination of whole genome and exome sequencing was performed in a cohort of 1120 pediatric patients, identifying germline mutations in 8.5% of children and adoloescents with cancer. This study highlights the prevalence of germline mutations in the pediatric cancer population.

3. Li FP, Fraumeni Jr JF, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res. 1988;48(18):5358–62.

4. Ripperger T, Schlegelberger B. Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome. European journal of medical genetics. 2016;59(3):133–42.

5. • Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47(2):180–5. This study documents germline missense mutations in ETV6 segregating with thrombocytopenia and hematologic malignancy in 3 unrelated families. Functional studies support the role of ETV6 as a germline susceptibility to autosomal dominant thrombocytopenia and risk for hematologic malignancy by decreased transcriptional repression and impaired hematopoiesis.

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