Rapid detection of KIT mutations in core-binding factor acute myeloid leukemia using high-resolution melting analysis

Journal of Molecular Diagnostics

Volumn 11, Issue 5, 2009, Pages 458-463

  Fuster, Óscar ^a   Barragán, Eva ^a   Bolufer, Pascual ^a   Cervera, José ^a   Larráyoz, Maria José ^b   Jiménez Velasco, Antonio ^c   Martínez López, Joaquín ^d   Valencia, Ana ^a   Moscardó, Federico ^a   Sanz, Miguel Ángel ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b UNIVERSITY OF NAVARRA   (Spain)

^c HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CORE BINDING FACTOR; STEM CELL FACTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; ARTICLE; BLOOD CELL COUNT; EXON; GENE MUTATION; GENE TECHNOLOGY; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; REPRODUCIBILITY;

CORE BINDING FACTORS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MUTATION; REPRODUCIBILITY OF RESULTS;

EID: 70249085633     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2009.090043     Document Type: Article

References (31)

1. Omasson MH, Xiang Z, Walgren R. Zhao Y, Kasai Y, Miner T, Ries RE, Lubman O, Fremont DH, McLellan MD, Payton JE, Westervelt P, DiPersio JF, Link DC, Walter MJ, Graubert TA, Watson M, Baty J, Heath S, Shannon WD, Nagarajan R, Bloomfield CD, Mardis ER, Wilson RK, Ley TJ: Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukaemia. Blood 2008, 111:4797-4808
2. Renneville A, Roumier C, Biggio V, Nibourel O, Boissel N, Fenaux P, Preudhomme C: Cooperating gene mutations in acute myeloid leukemia: a review of the literature. Leukemia 2008, 22:915-931 (Pubitemid 351709343)
3. Paschka P, Marcucci G, Ruppert AS, Mrózek K, Chen H, Kittles RA, Vukosavljevic T, Perrotti D, Vardiman JW, Carroll AJ, Kolitz JE, Larson RA, Bloomfield CD; Cancer and Leukemia Group B: Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv(16) and t(8;16). J Clin Oncol 2006, 24:3904-3911
4. Lennartsson J, Jelacic T, Linnekin D, Shivakrupa R: Normal and oncogenic forms of the receptor tyrosine kinase kit. Stem Cells 2005, 23:16-43 (Pubitemid 40105289)
5. Cairoli R, Beghini A, Grillo G, Nadali G, Elice F, Ripamonti CB, Colapietro P, Nichelatti M, Pezzetti L, Lunghi M, Cuneo A, Viola A, Ferrara F, Lazzarino M, Rodeghiero F, Pizzolo G, Larizza L, Morra E: Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study. Blood 2006, 107:3463-3468
6. Schnittger S, Kohl TM, Haferlach T, Kern W, Hiddemann W, Spiekermann K, Schoch C: KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. Blood 2006, 107:1791-1799 (Pubitemid 43289355)
7. Shimada A, Taki T, Tabuchi K, Tawa A, Horibe K, Tsuchida M, Hanada R, Tsukimoto I, Hayashi Y: KIT mutations, and not FLT3 internal tandem duplication, are strongly associated with a poor prognosis in pediatric acute myeloid leukemia with t(8;21): a study of the Japanese Childhood AML Cooperative Study Group. Blood 2006, 107:1806-1809
8. Care RS, Valk PJ, Goodeve AC, Abu-Duhier FM, Geertsma-Kleinekoort WM, Wilson GA, Gari MA, Peake IR, Löwenberg B, Reilly JT: Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias. Br J Haematol 2003, 121:775-777 (Pubitemid 36718195)
9. Goemans BF, Zwaan CM, Miller M, Zimmermann M, Harlow A, Meshinchi S, Loonen AH, Hählen K, Reinhardt D, Creutzig U, Kaspers GJ, Heinrich MC: Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia. Leukemia 2005, 19:1536-1542 (Pubitemid 43090396)
10. Wang YY, Zhou GB, Yin T, Chen B, Shi JY, Liang WX, Jin XL, You JH, Yang G, Shen ZX, Chen J, Xiong SM, Chen GQ, Xu F, Liu YW, Chen Z, Chen SJ: AML1-ETO and C-KIT mutation/overexpression in t(8;21) leukemia: implication in stepwise leukemogenesis and response to Gleevec. Proc Natl Acad Sci USA 2005, 102:1104-1109 (Pubitemid 40170733)
11. Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ: High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 2003, 49:853-860
12. Vaughn CP, Elenitoba-Johnson KSJ: High-Resolution melting analysis for detection of internal tandem duplications. J Mol Diagn 2004, 6:211-216
13. Jones AV, Cross NC, White HE, Green AR, Scot LM: Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis. Haematologica 2008, 93:1560-1564
14. Rapado I, Grande S, Albizua E, Ayala R, Hernández JA, Gallardo M, Gilsanz F, Martinez-Lopez J: High resolution melting analysis for JAK2 exon 14 and exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms. J Mol Diagn 2009, 11:155-161
15. Benett JM, Catovsky D, Daniel MT, Flandrin G, Galton DAG, Gralnick HR, Sultan C: Proposed revised criteria for the classification of acute myeloid leukemia: a report of the French-American-British Cooperative Group. Br J Haematol 1976, 33:451-458
16. Kaplan EL, Meier P: Nonparametric estimations from incomplete observations. J Am Stat Assoc 1958, 53:457-481
17. Mantel N: Evaluation of survival data and two new rank order statistics arising in its consideration. Cancer Chemother Rep 1966, 50:163-170
18. Sotlar K, Escribano L, Landt O, Möhrle S, Herrero S, Torrelo A, Lass U, Horny HP, Bültmann B: One-Step detection of c-KIT Point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. Am J Pathol 2003, 162:737-746 (Pubitemid 36237482)
19. Wallén M, Tomás E, Visakorpi T, Holli K, Mäenpää J: Endometrial K-ras mutations in postmenopausal breast cancer patients treated with adjuvant tamoxifen or toremifene. Cancer Chemother Pharmacol 2005, 55:343-346 (Pubitemid 40379257)
20. Thiede C, Creutzig E, Illmer T, Schaich M, Heise V, Ehninger G, Landt O: Rapid and sensitive typing of NPM1 mutations using LNA-mediated PCR clamping. Leukemia 2006, 20:1897-1899 (Pubitemid 44575005)
21. Nanri T, Matsuno N, Kawakita T, Suzushima H, Kawano F, Mitsuya H, Asou N: Mutations in the receptor tyrosine kinase pathway are associated with clinical outcome in patients with acute myeloblastic leukemia harboring t(8;21)(q22;q22). Leukemia 2005, 19:1361-1366 (Pubitemid 41136329)
22. Lasa A, Carricondo MT, Carnicer MJ, Perea G, Aventín A, Nomdedeu JF: A new D816 c-KIT gene mutation in refractory AML1-ETO leukemia. Haematologica 2006, 91:1283-1284 (Pubitemid 44408448)
23. Willmore C, Holden JA, Zhou L, Tripp S, Wittwer CT, Layfield LJ: Detection of c-Kit-activating mutations in gastrointestinal stromal tumors by high-resolution amplicon melting. Am J Clin Pathol 2004, 122:206-216 (Pubitemid 38971353)
24. Boissel N, Leroy H, Brethon B, Philippe N, de Botton S, Auvrignon A, Raffoux E, Leblanc T, Thomas X, Hermine O, Quesnel B, Baruchel A, Leverger G, Dombret H, Preudhomme C: Acute Leukemia French Association (ALFA); Leucémies Aiguës Myéloblastiques de l'Enfant (LAME) Cooperative Groups: Incidence and prognostic impact of c-Kit, Flt3, and Ras gene mutations in core binding factor acute myeloid leukemia (CBF-AML). Leukemia 2006, 20:965-970
25. Lin P, Chen L, Luthra R, Konoplev SN, Wang X, Medeiros LJ: Acute myeloid leukemia harboring t(8;21)(q22;q22): a heterogeneous disease with poor outcome in a subset of patients unrelated to secondary cytogenetic aberrations. Mod Pathol 2008, 21:1029-1036
26. Kohl TM, Schnittger S, Ellwart JW, Hiddemann W, Spiekermann K: KIT exon 8 mutations associated with core-binding factor (CBF)-acute myeloid leukemia (AML) cause hyperactivation of the receptor in response to stem cell factor. Blood 2005, 105:3319-3321 (Pubitemid 40504355)
27. Beghini A, Peterlongo P, Ripamonti CB, Larizza L, Cairoli R, Morra E, Mecucci C: C-kit mutations in core binding factor leukemias. Blood 2000, 95:726-727 (Pubitemid 30041697)
28. Ning ZQ, Li J, Arceci RJ: Activating mutations of c-kit at codon 816 confer drug resistance in human leukemia cells. Leukemia Lymphoma 2001, 41:513-522 (Pubitemid 32717305)
29. Meshinchi S, Stirewalt DL, Alonzo TA, Zhang Q, Sweetser DA, Woods WG, Bernstein ID, Arceci RJ, Radich JP: Activating mutations of RTK/ras signal transduction pathway in pediatric acute myeloid leukemia. Blood 2003, 102:1474-1479 (Pubitemid 36988059)
30. Beghini A, Ripamonti CB, Cairoli R, Cazzaniga G, Colapietro P, Elice F, Nadali G, Grillo G, Haas OA, Biondi A, Morra E, Larizza L: KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication. Haematologica 2004, 89:920-925 (Pubitemid 39049899)
31. Cammenga J, Horn S, Bergholz U, Sommer G, Besmer P, Fiedler W, Stocking C: Extracellular KIT receptor mutants, commonly found in core binding factor AML, are constitutively active and respond to imatinib mesylate. Blood 2005, 106:3958-3961 (Pubitemid 41739038)