The hidden genomic landscape of acute myeloid leukemia: Subclonal structure revealed by undetected mutations

Blood

Volumn 125, Issue 4, 2015, Pages 600-605

  Bodini, Margherita ^a   Ronchini, Chiara ^a   Giacò, Luciano ^b   Russo, Anna ^b   Melloni, Giorgio E M ^a   Luzi, Lucilla ^b,c   Sardella, Domenico ^c,d   Volorio, Sara ^c,d   Hasan, Syed K ^e,f,g   Ottone, Tiziana ^f,g   Lavorgna, Serena ^f,g   Lo Coco, Francesco ^f,g   Candoni, Anna ^h   Fanin, Renato ^h   Toffoletti, Eleonora ^h   Iacobucci, Ilaria ⁱ   Martinelli, Giovanni ⁱ   Cignetti, Alessandro ^j   Tarella, Corrado ^j   Bernard, Loris ^b,d   Pelicci, Pier Giuseppe ^b,k   Riva, Laura ^a   more..

^a ISTITUTO ITALIANO DI TECNOLOGIA   (Italy)

^b EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^c FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^d Cogentech ^*  (Italy)

^e CANCER RESEARCH INSTITUTE   (India)

^f UNIVERSITY OF ROME TOR VERGATA   (Italy)

^g IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^h UNIVERSITY HOSPITAL OF UDINE   (Italy)

ⁱ UNIVERSITY OF BOLOGNA   (Italy)

^j MAURIZIANO HOSPITAL   (Italy)

^k UNIVERSITY OF MILAN   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; BIOINFORMATICS; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOME; GENOMICS; HUMAN; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; SOMATIC MUTATION; ACUTE MYELOBLASTIC LEUKEMIA; BIOLOGY; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MUTATION; NUCLEIC ACID DATABASE; NUCLEOTIDE SEQUENCE; PROCEDURES;

COMPUTATIONAL BIOLOGY; DATABASES, NUCLEIC ACID; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LEUKEMIA, MYELOID, ACUTE; MUTATION;

EID: 84921683847     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-05-576157     Document Type: Article

References (22)

1. Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424-2433.
2. Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361(11): 1058-1066.
3. Rehm HL, Bale SJ, Bayrak-Toydemir P, et al Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee. ACMG clinical laboratory standards for next generation sequencing. Genet Med. 2013; 15(9):733-747.
4. Boutros PC, Ewing AD, Ellrott K, et al. Global optimization of somatic variant identification in cancer genomes with a global community challenge. Nat Genet. 2014;46(4): 318-319.
5. Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, Diaz LA Jr, Kinzler KW. Cancer genome landscapes. Science. 2013;339(6127):1546-1558.
6. Larson DE, Harris CC, Chen K, et al. SomaticSniper: identification of somatic point mutations in whole genome sequencing data. Bioinformatics. 2012;28(3):311-317.
7. Cibulskis K, Lawrence MS, Carter SL, et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol. 2013;31(3):213-219.
8. Roberts ND, Kortschak RD, Parker WT, et al. A comparative analysis of algorithms for somatic SNV detection in cancer. Bioinformatics. 2013; 29(18):2223-2230.
9. The Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia [published correction appears in N Engl J Med. 2013;369(1): 98].
10. N Engl J Med. 2013;368(22):2059-2074.
11. Lawrence MS, Stojanov P, Polak P, et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature. 2013; 499(7457):214-218.
12. Govindan R, Ding L, Griffith M, et al. Genomic landscape of non-small cell lung cancer in smokers and never-smokers. Cell. 2012;150(6): 1121-1134.
13. Futreal PA, Coin L, Marshall M, et al. A census of human cancer genes. Nat Rev Cancer. 2004;4(3): 177-183.
14. Riva L, Ronchini C, Bodini M, et al. Acute promyelocytic leukemias share cooperative mutations with other myeloid-leukemia subgroups. Blood Cancer J. 2013;3:e147.
15. Wang Q, Jia P, Li F, et al. Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers. Genome Med. 2013;5(10):91.
16. Ding L, Ley TJ, Larson DE, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature. 2012; 481(7382):506-510.
17. Chan SM, Majeti R. Role of DNMT3A, TET2, and IDH1/2 mutations in pre-leukemic stem cells in acute myeloid leukemia. Int J Hematol. 2013; 98(6):648-657.
18. Nik-Zainal S, Van Loo P, Wedge DC, et al Breast Cancer Working Group of the International Cancer Genome Consortium. The life history of 21 breast cancers. Cell. 2012; 149(5):994-1007.
19. Mwenifumbo JC, Marra MA. Cancer genomesequencing study design. Nat Rev Genet. 2013; 14(5):321-332.
20. Schmitt MW, Kennedy SR, Salk JJ, Fox EJ, Hiatt JB, Loeb LA. Detection of ultra-rare mutations by next-generation sequencing. Proc Natl Acad Sci USA. 2012;109(36):14508-14513.
21. Alexandrov LB, Nik-Zainal S, Wedge DC, et al Australian Pancreatic Cancer Genome Initiative; ICGC Breast Cancer Consortium; ICGC MMML-Seq Consortium; ICGC PedBrain. Signatures of mutational processes in human cancer [published correction appears in Nature. 2013;502(7470):258].
22. Nature. 2013; 500(7463):415-421.