Rapid screening of ASXL1, IDH1, IDH2, and c-CBL mutations in de novo acute myeloid leukemia by high-resolution melting

Journal of Molecular Diagnostics

Volumn 14, Issue 6, 2012, Pages 594-601

  Ibáñez, Mariam ^a   Such, Esperanza ^a   Cervera, José ^a   Luna, Irene ^a   Gómez Seguí, Inés ^a   López Pavía, María ^a   Dolz, Sandra ^a   Barragán, Eva ^a   Fuster, Oscar ^a   Llop, Marta ^a   Rodríguez Veiga, Rebeca ^a   Avaria, Amparo ^a   Oltra, Silvestre ^a   Senent, M Leonor ^a   Moscardó, Federico ^a   Montesinos, Pau ^a   Martínez Cuadrón, David ^a   Martín, Guillermo ^a   Sanz, Miguel A ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CBL PROTEIN; CD135 ANTIGEN; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; ARTICLE; ASXL1 GENE; CANCER PATIENT; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENE; GENETIC SCREENING; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN TISSUE; INCIDENCE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; SOMATIC MUTATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COHORT STUDIES; FEMALE; GENETIC TESTING; HUMANS; ISOCITRATE DEHYDROGENASE; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; PROGNOSIS; PROTO-ONCOGENE PROTEINS C-CBL; REPRESSOR PROTEINS; TIME FACTORS; YOUNG ADULT;

EID: 84867397863     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2012.06.006     Document Type: Article

References (36)

1. D. Grimwade, R.K. Hills, A.V. Moorman, H. Walker, S. Chatters, A.H. Goldstone, K. Wheatley, C.J. Harrison, A.K. Burnett, Group National Cancer Res Institute Adult Leukaemia Working Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials Blood 116 2010 354 365
2. H. Döhner, E.H. Estey, S. Amadori, F.R. Appelbaum, T. Büchner, A.K. Burnett, H. Dombret, P. Fenaux, D. Grimwade, R.A. Larson, F. Lo-Coco, T. Naoe, D. Niederwieser, G.J. Ossenkoppele, M.A. Sanz, J. Sierra, M.S. Tallman, B. Löwenberg, LeukemiaNet Bloomfield CD; European Diagnosis and management of acute myeloid leukaemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet Blood 115 2010 453 474
3. A. Renneville, C. Roumier, V. Biggio, O. Nibourel, N. Boissel, P. Fenaux, C. Preudhomme Cooperating gene mutations in acute myeloid leukemia: a review of the literature Leukemia 22 2008 915 931
4. F.H. Grand, C.E. Hidalgo-Curtis, T. Ernst, K. Zoi, C. Zoi, C. McGuire, S. Kreil, A. Jones, J. Score, G. Metzgeroth, D. Oscier, A. Hall, C. Brandts, H. Serve, A. Reiter, A.J. Chase, N.C. Cross Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms Blood 113 2009 6182 6192
5. W.C. Chou, H.H. Huang, H.A. Hou, C.Y. Chen, J.L. Tang, M. Yao, W. Tsay, B.S. Ko, S.J. Wu, S.Y. Huang, S.C. Hsu, Y.C. Chen, Y.N. Huang, Y.C. Chang, F.Y. Lee, M.C. Liu, C.W. Liu, M.H. Tseng, C.F. Huang, H.F. Tien Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations Blood 116 2010 4086 4094
6. N. Carbuccia, V. Trouplin, V. Gelsi-Boyer, A. Murati, J. Rocquain, J. Adélaïde, S. Olschwang, L. Xerri, N. Vey, M. Chaffanet, D. Birnbaum, M.J. Mozziconacci Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias Leukemia 24 2010 469 473
7. J. Boultwood, J. Perry, A. Pellagatti, M. Fernandez-Mercado, C. Fernandez-Santamaria, M.J. Calasanz, M.J. Larrayoz, M. Garcia-Delgado, A. Giagounidis, L. Malcovati, M.G. Della Porta, M. Jädersten, S. Killick, E. HellströM-Lindberg, M. Cazzola, J.S. Wainscoat Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia Leukemia 24 2010 1062 1065
8. E.R. Mardis, L. Ding, D.J. Dooling, D.E. Larson, M.D. McLellan, K. Chen, D.C. Koboldt, R.S. Fulton, K.D. Delehaunty, S.D. McGrath, L.A. Fulton, D.P. Locke, V.J. Magrini, R.M. Abbott, T.L. Vickery, J.S. Reed, J.S. Robinson, T. Wylie, S.M. Smith, L. Carmichael, J.M. Eldred, C.C. Harris, J. Walker, J.B. Peck, F. Du, A.F. Dukes, G.E. Sanderson, A.M. Brummett, E. Clark, J.F. McMichael, R.J. Meyer, J.K. Schindler, C.S. Pohl, J.W. Wallis, X. Shi, L. Lin, H. Schmidt, Y. Tang, C. Haipek, M.E. Wiechert, J.V. Ivy, J. Kalicki, G. Elliott, R.E. Ries, J.E. Payton, P. Westervelt, M.H. Tomasson, M.A. Watson, J. Baty, S. Heath, W.D. Shannon, R. Nagarajan, D.C. Link, M.J. Walter, T.A. Graubert, J.F. DiPersio, R.K. Wilson, T.J. Ley Recurring mutations found by sequencing an acute myeloid leukemia genome N Engl J Med 361 2009 1058 1066
9. P.S. Ward, J. Patel, D.R. Wise, O. Abdel-Wahab, B.D. Bennett, H.A. Coller, J.R. Cross, V.R. Fantin, C.V. Hedvat, A.E. Perl, J.D. Rabinowitz, M. Carroll, S.M. Su, K.A. Sharp, R.L. Levine, C.B. Thompson The common feature of leukemia-associated idh1 and idh2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate Cancer Cell 17 2010 225 234
10. S. Gross, R.A. Cairns, M.D. Minden, E.M. Driggers, M.A. Bittinger, H.G. Jang, M. Sasaki, S. Jin, D.P. Schenkein, S.M. Su, L. Dang, V.R. Fantin, T.W. Mak Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations J Exp Med 207 2010 339 344
11. P. Paschka, R.F. Schlenk, V.I. Gaidzik, M. Habdank, J. Krönke, L. Bullinger, D. Späth, S. Kayser, M. Zucknick, K. Götze, H.A. Horst, U. Germing, H. Döhner, K. Döhner IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication J Clin Oncol 28 2010 3636 3643
12. H. Makishima, H. Cazzolli, H. Szpurka, A. Dunbar, R. Tiu, J. Huh, H. Muramatsu, C. O'Keefe, E. Hsi, R.L. Paquette, S. Kojima, A.F. List, M.A. Sekeres, M.A. McDevitt, J.P. Maciejewski Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies J Clin Oncol 27 2009 6109 6116
13. A. Tefferi Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1 Leukemia 24 2010 1128 1138
14. R. Bejar, R. Levine, B.L. Ebert Unraveling the molecular pathophysiology of myelodysplastic syndromes Clin Oncol 29 2011 504 515
15. M.E. Figueroa, O. Abdel-Wahab, C. Lu, P.S. Ward, J. Patel, A. Shih, Y. Li, N. Bhagwat, A. Vasanthakumar, H.F. Fernandez, M.S. Tallman, Z. Sun, K. Wolniak, J.K. Peeters, W. Liu, S.E. Choe, V.R. Fantin, E. Paietta, B. Löwenberg, J.D. Licht, L.A. Godley, R. Delwel, P.J. Valk, C.B. Thompson, R.L. Levine, A. Melnick Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation Cancer Cell 18 2010 553 567
16. K. Wagner, F. Damm, G. Göhring, K. Görlich, M. Heuser, I. Schäfer, O. Ottmann, M. Lübbert, W. Heit, L. Kanz, G. Schlimok, A.A. Raghavachar, W. Fiedler, H.H. Kirchner, W. Brugger, M. Zucknick, B. Schlegelberger, G. Heil, A. Ganser, J. Krauter Impact of IDH1 R132 mutations and an IDH1 single nucleotide polymorphism in cytogenetically normal acute myeloid leukemia: sNP rs11554137 is an adverse prognostic factor J Clin Oncol 28 2010 2356 2364
17. S.J. Saur, V. Sangkhae, A.E. Geddis, K. Kaushansky, I.S. Hitchcock Ubiquitination and degradation of the thrombopoietin receptor c-Mpl Blood 115 2010 1254 1263
18. S.R. Bandi, C. Brandts, M. Rensinghoff, R. Grundler, L. Tickenbrock, G. Köhler, J. Duyster, W.E. Berdel, C. Müller-Tidow, H. Serve, Leukemias Sargin B; Study Alliance E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease Blood 114 2009 4197 4208
19. B. Sargin, C. Choudhary, N. Crosetto, M.H. Schmidt, R. Grundler, M. Rensinghoff, C. Thiessen, L. Tickenbrock, J. Schwäble, C. Brandts, B. August, S. Koschmieder, S.R. Bandi, J. Duyster, W.E. Berdel, C. Müller-Tidow, I. Dikic, H. Serve Flt3-dependent transformation by inactivating c-Cbl mutations in AML Blood 110 2007 1004 1012
20. L.G. Shaffer, M.L. Slovak, L.J. Campbell, eds An International System for Human Cytogenetic Nomenclature: Recommendations of the International Standing Committee Basel, S. Karger 2009
21. I. Moreno, G. Martín, P. Bolufer, E. Barragán, E. Rueda, J. Román, P. Fernández, P. León, A. Mena, J. Cervera, A. Torres, M.A. Sanz Incidence and prognostic value of FLT3 internal tandem duplication and D835 mutations in acute myeloid leukaemia Haematologica 88 2003 19 24
22. C. Thiede, C. Steudel, B. Mohr, M. Schaich, U. Schäkel, U. Platzbecker, M. Wermke, M. Bornhäuser, M. Ritter, A. Neubauer, G. Ehninger, T. Illmer Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis Blood 99 2002 4326 4335
23. S. Schnittger, C. Schoch, W. Kern, C. Mecucci, C. Tschulik, M.F. Martelli, T. Haferlach, W. Hiddemann, B. Falini Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype Blood 106 2005 3733 3739
24. O. Fuster, E. Barragán, P. Bolufer, E. Such, A. Valencia, M. IbÁñez, S. Dolz, I. de Juan, A. Jiménez, M.T. Gómez, I. Buño, J. Martínez, J. Cervera, P. Montesinos, F. MoscardÓ, MÁ Sanz Fragment length analysis screening for detection of CEBPA mutations in intermediate-risk karyotype acute myeloid leukemia Ann Hematol 91 2012 1 7
25. N. Mantel Evaluation of survival data and two new rank order statistics arising in its consideration Cancer Chemother Rep 50 1966 163 170
26. B.D. Cheson, J.M. Bennett, K.J. Kopecky, T. Büchner, C.L. Willman, E.H. Estey, C.A. Schiffer, H. Doehner, M.S. Tallman, T.A. Lister, F. Lo-Coco, R. Willemze, A. Biondi, W. Hiddemann, R.A. Larson, B. Löwenberg, M.A. Sanz, D.R. Head, R. Ohno, C.D. Bloomfield, International Working Group for Diagnosis, Standardization of Response Criteria, Treatment Outcomes, and Reporting Standards for Therapeutic Trials in Acute Myeloid Leukemia Revised recommendations of the International Working Group for Diagnosis, Standardization of Response Criteria, Treatment Outcomes, and Reporting Standards for Therapeutic Trials in Acute Myeloid Leukemia J Clin Oncol 21 2003 4642 4649
27. K.P. Patel, B.A. Barkoh, Z. Chen, D. Ma, N. Reddy, L.J. Medeiros, R. Luthra Diagnostic testing for IDH1 and IDH2 variants in acute myeloid leukemia an algorithmic approach using high-resolution melting curve analysis J Mol Diagn 13 2011 678 686
28. B. Sargin, C. Choudhary, N. Crosetto, M.H. Schmidt, R. Grundler, M. Rensinghoff, C. Thiessen, L. Tickenbrock, J. Schwäble, C. Brandts, B. August, S. Koschmieder, S.R. Bandi, J. Duyster, W.E. Berdel, C. Müller-Tidow, I. Dikic, H. Serve Flt3-dependent transformation by inactivating c-Cbl mutations in AML Blood 110 2007 1004 1012
29. S. Abbas, G. Rotmans, B. Löwenberg, P.J. Valk Exon 8 splice site mutations in the gene encoding the E3-ligase CBL are associated with core binding factor acute myeloid leukemias Haematologica 2008
30. C. Reindl, H. Quentmeier, K. Petropoulos, P.A. Greif, T. Benthaus, B. Argiropoulos, G. Mellert, S. Vempati, J. Duyster, C. Buske, S.K. Bohlander, K.R. Humphries, W. Hiddemann, K. Spiekermann CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes Clin Cancer Res 15 2009 2238 2247
31. R. Ghassemifar, C.B. Thien, J. Finlayson, D. Joske, G.M. Cull, B. Augustson, W.Y. Langdon Incidence of c-Cbl mutations in human acute myeloid leukaemias in an Australian patient cohort Pathology 43 2011 261 265
32. K.H. Metzeler, H. Becker, K. Maharry, M.D. Radmacher, J. Kohlschmidt, K. MRózek, D. Nicolet, S.P. Whitman, Y.Z. Wu, S. Schwind, B.L. Powell, T.H. Carter, M. Wetzler, J.O. Moore, J.E. Kolitz, M.R. Baer, A.J. Carroll, R.A. Larson, M.A. Caligiuri, G. Marcucci, C.D. Bloomfield ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN "favorable" genetic category Blood 118 2011 6920 6929
33. Y. Shen, Y.M. Zhu, X. Fan, J.Y. Shi, Q.R. Wang, X.J. Yan, Z.H. Gu, Y.Y. Wang, B. Chen, C.L. Jiang, H. Yan, F.F. Chen, H.M. Chen, Z. Chen, J. Jin, S.J. Chen Gene mutation patterns and their prognostic impact in a cohort of 1,185 patients with acute myeloid leukemia Blood 118 2011 5593 5603
34. F. Thol, I. Friesen, F. Damm, H. Yun, E.M. Weissinger, J. Krauter, K. Wagner, A. Chaturvedi, A. Sharma, M. Wichmann, G. Göhring, C. Schumann, G. Bug, O. Ottmann, K. Hofmann W-, B. Schlegelberger, M. Heuser, A. Ganser Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes J Clin Oncol 29 2011 2499 2506
35. V. Gelsi-Boyer, V. Trouplin, J. Roquain, J. Adélaïde, N. Carbuccia, B. Esterni, P. Finetti, A. Murati, C. Arnoulet, H. Zerazhi, H. Fezoui, Z. Tadrist, M. Nezri, M. Chaffanet, M.J. Mozziconacci, N. Vey, D. Birnbaum ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia Br J Haematol 151 2010 365 375
36. G. Marcucci, K. Maharry, Y.Z. Wu, M.D. Radmacher, K. MRózek, D. Margeson, K.B. Holland, S.P. Whitman, H. Becker, S. Schwind, K.H. Metzeler, B.L. Powell, T.H. Carter, J.E. Kolitz, M. Wetzler, A.J. Carroll, M.R. Baer, M.A. Caligiuri, R.A. Larson, C.D. Bloomfield IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study J Clin Oncol 28 2010 2348 2355