Next-generation sequencing of FLT3 internal tandem duplications for minimal residual disease monitoring in acute myeloid leukemia

Oncotarget

Volumn 6, Issue 26, 2015, Pages 22812-22821

  Bibault, Jean Emmanuel ^a,c   Figeac, Martin ^b,c   Hélevaut, Nathalie ^a   Rodriguez, Céline ^a   Quief, Sabine ^b,d   Sebda, Shéhérazade ^b,d   Renneville, Aline ^a,c,e   Nibourel, Olivier ^a,c,e   Rousselot, Philippe ^f   Gruson, Bérengère ^g   Dombret, Hervé ^h   Castaigne, Sylvie ^f   Preudhomme, Claude ^a,c  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b Functional Genomic Platform   (France)

^c UNIV LILLE   (France)

^d Institut Pour la Recherche sur le Cancer de Lille (IRCL)   (France)

^e JEAN PIERRE AUBERT RESEARCH CENTER   (France)

^f LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^g AMIENS UNIVERSITY HOSPITAL   (France)

^h SAINT LOUIS HOSPITAL   (France)

Author keywords

Acute myeloid leukemia; FLT3 internal tandem duplication; Minimal residual disease; Next generation sequencing

Indexed keywords

ACUTE MYELOBLASTIC LEUKEMIA; ADULT; AGED; ARTICLE; CANCER RECURRENCE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEASIBILITY STUDY; FEMALE; FLT3 GENE; FOLLOW UP; FRAGMENT ANALYSIS; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INTERNAL TANDEM DUPLICATION; MALE; MIDDLE AGED; MINIMAL RESIDUAL DISEASE; NEXT GENERATION SEQUENCING; SENSITIVITY ANALYSIS; VALIDATION STUDY; CHEMISTRY; GENETICS; HIGH THROUGHPUT SEQUENCING; LEUKEMIA, MYELOID, ACUTE; MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION; PROCEDURES;

CD135 ANTIGEN; FLT3 PROTEIN, HUMAN;

ADULT; AGED; FEMALE; FMS-LIKE TYROSINE KINASE 3; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; NEOPLASM, RESIDUAL; POLYMERASE CHAIN REACTION;

EID: 84941209435     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.4333     Document Type: Article

References (25)

1. Gregory TK, Wald D, Chen Y, Vermaat JM, Xiong Y, Tse W. Molecular prognostic markers for adult acute myeloid leukemia with normal cytogenetics. J Hematol Oncol. 2:23.
2. Patel JP, Gönen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med. 366:1079-1089.
3. Schlenk RF, Döhner K, Krauter J, Fröhling S, Corbacioglu A, Bullinger L, et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med. 358:1909-1918.
4. Kayser S, Schlenk RF, Londono MC, Breitenbuecher F, Wittke K, Du J, et al. Insertion of FLT3 internal tandem duplication in the tyrosine kinase domain-1 is associated with resistance to chemotherapy and inferior outcome. Blood. 114:2386-2392.
5. 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. 25:1297-1304.
6. Mead AJ, Linch DC, Hills RK, Wheatley K, Burnett AK, Gale RE. FLT3 tyrosine kinase domain mutations are biologically distinct from and have a significantly more favorable prognosis than FLT3 internal tandem duplications in patients with acute myeloid leukemia. Blood. 110:1262-1270.
7. Whitman SP, Ruppert AS, Radmacher MD, Mrózek K, Paschka P, Langer C, et al. FLT3 D835/I836 mutations are associated with poor disease-free survival and a distinct gene-expression signature among younger adults with de novo cytogenetically normal acute myeloid leukemia lacking FLT3 internal tandem duplications. Blood. 111:1552-1559.
8. Mead AJ, Gale RE, Kottaridis PD, Matsuda S, Khwaja A, Linch DC. Acute myeloid leukaemia blast cells with a tyrosine kinase domain mutation of FLT3 are less sensitive to lestaurtinib than those with a FLT3 internal tandem duplication. Br J Haematol. 141:454-460.
9. Stone RM, Fischer T, Paquette R, Schiller G, Schiffer CA, Ehninger G, et al. Phase IB study of the FLT3 kinase inhibitor midostaurin with chemotherapy in younger newly diagnosed adult patients with acute myeloid leukemia. Leukemia. 26:2061-2068.
10. Grunwald MR, Levis MJ. FLT3 inhibitors for acute myeloid leukemia: a review of their efficacy and mechanisms of resistance. Int J Hematol. 97:683-694.
11. Abdelhamid E, Preudhomme C, Helevaut N, Nibourel O, Gardin C, Rousselot P, et al. Minimal residual disease monitoring based on FLT3 internal tandem duplication in adult acute myeloid leukemia. Leuk Res. 36:316-323.
12. Paietta E. Minimal residual disease in acute myeloid leukemia: coming of age. Hematol Educ Program Am Soc Hematol Am Soc Hematol Educ Program. 2012:35-42.
13. Thol F, Kölking B, Damm F, Reinhardt K, Klusmann J-H, Reinhardt D, et al. Next-generation sequencing for minimal residual disease monitoring in acute myeloid leukemia patients with FLT3-ITD or NPM1 mutations. Genes Chromosomes Cancer. 51:689-695.
14. Spencer DH, Abel HJ, Lockwood CM, Payton JE, Szankasi P, Kelley TW, et al. Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data. J Mol Diagn JMD. 15:81-93.
15. Bochtler T, Stölzel F, Heilig CE, Kunz C, Mohr B, Jauch A, et al. Clonal heterogeneity as detected by metaphase karyotyping is an indicator of poor prognosis in acute myeloid leukemia. J Clin Oncol Off J Am Soc Clin Oncol. 31:3898-3905.
16. Kern W, Haferlach T, Schnittger S, Ludwig WD, Hiddemann W, Schoch C. Karyotype instability between diagnosis and relapse in 117 patients with acute myeloid leukemia: implications for resistance against therapy. Leukemia. 16:2084-2091.
17. Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DC, Welch JS, et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature. 481:506-510.
18. Steinbach D, Debatin K-M. What do we mean by sensitivity when we talk about detecting minimal residual disease? Leukemia. 22:1638-1639.
19. Caruccio N. Preparation of next-generation sequencing libraries using NexteraTM technology: simultaneous DNA fragmentation and adaptor tagging by in vitro transposition. Methods Mol Biol Clifton NJ. 733:241-255.
20. Andrews S. FastQC A Quality Control tool for High Throughput Sequence Data [Internet]. http://www.bioinformatics.babraham.ac.uk/projects/fastqc/. [cité 6 oct 2014]. Available at: http://www.bioinformatics.babraham.ac.uk/projects/fastqc/.
21. Ye K, Schulz MH, Long Q, Apweiler R, Ning Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinforma Oxf Engl. 25:2865-2871.
22. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinforma Oxf Engl. 25:1754-1760.
23. Zhang J, Kobert K, Flouri T, Stamatakis A. PEAR: a fast and accurate Illumina Paired-End reAd mergeR. Bioinforma Oxf Engl. 30:614-620.
24. Kolpakov R, Bana G, Kucherov G. mreps: Efficient and flexible detection of tandem repeats in DNA. Nucleic Acids Res. 31:3672-3678.
25. R Core Team. R: A Language and Environment for Statistical Computing [Internet]. R Foundation for Statistical Computing; Available at: http://www.R-project.org.