Genomic profiling of pediatric acute myeloid leukemia reveals a changing mutational landscape from disease diagnosis to relapse

Cancer Research

Volumn 76, Issue 8, 2016, Pages 2197-2205

  Farrar, Jason E ^a,b   Schuback, Heather L ^c   Ries, Rhonda E ^c   Wai, Daniel ^d   Hampton, Oliver A ^e   Trevino, Lisa R ^e,f   Alonzo, Todd A ^b,g   Auvil, Jaime M Guidry ^h   Davidsen, Tanja M ^h   Gesuwan, Patee ^h   Hermida, Leandro ^h   Muzny, Donna M ^e   Dewal, Ninad ^e   Rustagi, Navin ^e   Lewis, Lora R ^e   Sgamis, Alan ⁱ   Awheeler, David ^e   Smith, Malcolm A ^h   Gerhard, Daniela S ^h   Meshinchi, Soheil ^b,c  

^a UNIVERSITY OF ARKANSAS AT LITTLE ROCK   (United States)

^b CHILDREN S ONCOLOGY GROUP   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f Doctors Hospital at Renaissance   (United States)

^g UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^h NATIONAL CANCER INSTITUTE   (United States)

ⁱ CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE MYELOBLASTIC LEUKEMIA; ADOLESCENT; AGE; ARTICLE; CANCER DIAGNOSIS; CHILD; CHILDHOOD CANCER; CLINICAL ARTICLE; DHX15 GENE; DHX30 GENE; ETV6 GENE; FLT3 GENE; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOMICS; HUMAN; INFANT; KIT GENE; KRAS GENE; LEUKEMIA RELAPSE; LEUKEMIA REMISSION; MOLECULAR CLONING; NRAS GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTPN11 GENE; SCHOOL CHILD; SOMATIC MUTATION; TET2 GENE; VARIANT ALLELE FRACTION; WT1 GENE; COPY NUMBER VARIATION; FEMALE; GENE EXPRESSION PROFILING; GENETICS; LEUKEMIA, MYELOID, ACUTE; MALE; MUTATION; PATHOLOGY; RECURRENT DISEASE; VALIDATION STUDY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; FEMALE; GENE EXPRESSION PROFILING; HUMANS; INFANT; LEUKEMIA, MYELOID, ACUTE; MALE; MUTATION; RECURRENCE;

EID: 84971016379     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-15-1015     Document Type: Article

References (25)

1. Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010; 363:2424-33.
2. Schuback HL, Arceci RJ, Meshinchi S. Somatic characterization of pediatric acute myeloid leukemia using next-generation sequencing. Semin Hematol 2013;50:325-32.
3. Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009;361:1058-66.
4. Ho PA, Kutny MA, Alonzo TA, Gerbing RB, Joaquin J, Raimondi SC, et al. Leukemic mutations in the methylation-associated genes DNMT3A and IDH2 are rare events in pediatric AML: A report from the Children's Oncology Group. Pediatr Blood Cancer 2011; 57:204-9.
5. Lange BJ, Smith FO, Feusner J, Barnard DR, Dinndorf P, Feig S, et al. Outcomes in CCG-2961, a children's oncology group phase 3 trial for untreated pediatric acute myeloid leukemia: A report from the children's oncology group. Blood 2008;111:1044-53.
6. Cooper TM, Franklin J, Gerbing RB, Alonzo TA, Hurwitz C, Raimondi SC, et al. AAML03P1, a pilot study of the safety of gemtuzumab ozogamicin in combination with chemotherapy for newly diagnosed childhood acute myeloid leukemia: A report from the Children's Oncology Group. Cancer 2012;118:761-9.
7. Sung L, Aplenc R, Alonzo TA, Gerbing RB, Gamis AS, Group AP. Predictors and short-term outcomes of hyperleukocytosis in children with acute myeloid leukemia: A report from the Children's Oncology Group. Haematologica 2012;97:1770-3.
8. Pollard JA, Alonzo TA, Gerbing RB, Ho PA, Zeng R, Ravindranath Y, et al. Prevalence and prognostic significance of KIT mutations in pediatric patients with core binding factor AML enrolled on serial pediatric cooperative trials for de novo AML. Blood 2010; 115:2372-9.
9. Ho PA, Alonzo TA, Gerbing RB, Kuhn J, Pollard JA, Hirsch B, et al. The prognostic effect of high diagnostic WT1 gene expression in pediatric AML depends on WT1 SNP rs16754 status: report from the Children's Oncology Group. Pediatr Blood Cancer 2014;61:81-8.
10. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20:1297-303.
11. Hampton OA, Rustagi N, Li J, Liu X, Gibbs RA, Plon SE, et al. ITD Assembler: An algorithm for internal tandem duplication discovery from short-read data [abstract]. Cancer Res 2015;75 (15 Supplement): 4856.
12. Chakraborty R, Hampton OA, Shen X, Simko SJ, Shih A, Bhyankar H, et al. Mutually exclusive recurrent somatic mutations in MAPK2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood 2014;124: 3007-15.
13. Ester M, Kriegel H-P, Sander J, Xu X. A density-based algorithm for discovering clusters in large spatial databases with noise. In: Simoudis E, Han J, Fayyad U, editors. Second International Conference on Knowledge Discovery and Dana Mining (KDD-96) : AAAI Press, Menlo, Park, CA; 1996. p226.
14. Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487:330-7.
15. Sunyaev S, Ramensky V, Koch I, Lathe WIII, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001;10:591-7.
16. Pollard JA, Alonzo TA, Gerbing RB, WoodsWG, Lange BJ, Sweetser DA, et al. FLT3 internal tandem duplication in CD34/CD33- precursors predicts poor outcome in acute myeloid leukemia. Blood 2006;108:2764-9.
17. Meshinchi S, Alonzo TA, Stirewalt DL, Zwaan M, Zimmerman M, Reinhardt D, et al. Clinical implications of FLT3 mutations in pediatric AML. Blood 2006;108:3654-61.
18. Schnittger S, Bacher U, Kern W, Alpermann T, Haferlach C, Haferlach T. Prognostic impact of FLT3-ITD load in NPM1 mutated acute myeloid leukemia. Leukemia 2011;25:1297-304.
19. Gale RE, Green C, Allen C, Mead AJ, Burnett AK, Hills RK, et al. The impact of FLT3 internal tandem duplication mutant level, number, size, and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia. Blood 2008;111: 2776-84.
20. Gamis AS, Alonzo TA, Meshinchi S, Sung L, Gerbing RB, Raimondi SC, et al. Gemtuzumab ozogamicin in children and adolescents with de novo acute myeloid leukemia improves event-free survival by reducing relapse risk: results from the randomized phase III Children's Oncology Group trial AAML0531. J Clin Oncol 2014;32:3021-32.
21. Allen C, Hills RK, Lamb K, Evans C, Tinsley S, Sellar R, et al. The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia. Leukemia 2013;27:1891-901.
22. Stieglitz E, Taylor-Weiner AN, Chang TY, Gelston LC, Wang YD, Mazor T, et al. The genomic landscape of juvenile myelomonocytic leukemia. Nat Genet 2015;47:1326-33.
23. Shlush LI, Zandi S, Mitchell A, Chen WC, Brandwein JM, Gupta V, et al. Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature 2014;506:328-33.
24. Smith CC, Wang Q, Chin CS, Salerno S, Damon LE, Levis MJ, et al. Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia. Nature 2012;485:260-3.
25. Meyer JA, Wang J, Hogan LE, Yang JJ, Dandekar S, Patel JP, et al. Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia. Nat Genet 2013;45:290-4.