Impact of ABCB1 single nucleotide polymorphisms 1236C>T and 2677G>T on overall survival in FLT3 wild-type de novo AML patients with normal karyotype

British Journal of Haematology

Volumn 167, Issue 5, 2014, Pages 671-680

  Jakobsen Falk, Ingrid ^a   Fyrberg, Anna ^a   Paul, Esbjörn ^b   Nahi, Hareth ^b   Hermanson, Monica ^c   Rosenquist, Richard ^c   Höglund, Martin ^d   Palmqvist, Lars ^e   Stockelberg, Dick ^f   Wei, Yuan ^f   Gréen, Henrik ^a,g,h   Lotfi, Kourosh ^a,i  

^a LINKÖPING UNIVERSITY   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UPPSALA UNIVERSITY   (Sweden)

^d UPPSALA UNIVERSITY   (Sweden)

^e UNIVERSITY OF GOTHENBURG   (Sweden)

^f SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^g ROYAL INSTITUTE OF TECHNOLOGY   (Sweden)

^h DEPARTMENT OF FORENSIC GENETICS AND FORENSIC TOXICOLOGY   (Sweden)

ⁱ Department of Clinical Immunology and Transfusion Medicine   (Sweden)

Author keywords

ABCB1; Acute myeloid leukaemia; Anthracyclines; FLT3; Single nucleotide polymorphism

Indexed keywords

CD135 ANTIGEN; CYTARABINE; DAUNORUBICIN; FLUDARABINE; GRANULOCYTE COLONY STIMULATING FACTOR; IDARUBICIN; MITOXANTRONE; MULTIDRUG RESISTANCE PROTEIN; MULTIDRUG RESISTANCE PROTEIN 1; NUCLEOPHOSMIN; TIOGUANINE; ABCB1 PROTEIN, HUMAN; FLT3 PROTEIN, HUMAN; TUMOR MARKER;

ABCB1 GENE; ACUTE MYELOBLASTIC LEUKEMIA; ADULT; AGED; ALLELE; ARTICLE; CANCER PROGNOSIS; CANCER RECURRENCE; CONTROLLED STUDY; FEMALE; GENE; GENOTYPE; HIGH RISK PATIENT; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; OVERALL SURVIVAL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT FAILURE; TREATMENT RESPONSE; VERY ELDERLY; WILD TYPE; ADOLESCENT; CLINICAL TRIAL; DISEASE FREE SURVIVAL; GENETICS; LEUKEMIA, MYELOID, ACUTE; METABOLISM; MIDDLE AGED; MORTALITY; MULTICENTER STUDY; RISK FACTOR; SURVIVAL RATE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; DISEASE-FREE SURVIVAL; FEMALE; FMS-LIKE TYROSINE KINASE 3; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; P-GLYCOPROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SURVIVAL RATE; TUMOR MARKERS, BIOLOGICAL;

EID: 84925226984     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.13097     Document Type: Article

References (37)

1. Bacher, U., Haferlach, T., Schoch, C., Kern, W. & Schnittger, S. (2006) Implications of NRAS mutations in AML: a study of 2502 patients. Blood, 107, 3847-3853.
2. Balcerczak, E., Panczyk, M., Piaskowski, S., Pasz-Walczak, G., Salagacka, A. & Mirowski, M. (2010) ABCB1/MDR1 gene polymorphisms as a prognostic factor in colorectal cancer. International Journal of Colorectal Disease, 25, 1167-1176.
3. Bienz, M., Ludwig, M., Leibundgut, E.O., Mueller, B.U., Ratschiller, D., Solenthaler, M., Fey, M.F. & Pabst, T. (2005) Risk assessment in patients with acute myeloid leukemia and a normal karyotype. Clinical Cancer Research, 11, 1416-1424.
4. De Mattia, E., Toffoli, G., Polesel, J., D'Andrea, M., Corona, G., Zagonel, V., Buonadonna, A., Dreussi, E. & Cecchin, E. (2013) Pharmacogenetics of ABC and SLC transporters in metastatic colorectal cancer patients receiving first-line FOLFIRI treatment. Pharmacogenetics and Genomics, 23, 549-557.
5. Dohner, H., Estey, E.H., Amadori, S., Appelbaum, F.R., Buchner, T., Burnett, A.K., Dombret, H., Fenaux, P., Grimwade, D., Larson, R.A., Lo-Coco, F., Naoe, T., Niederwieser, D., Ossenkoppele, G.J., Sanz, M.A., Sierra, J., Tallman, M.S., Lowenberg, B. & Bloomfield, C.D. (2010) Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood, 115, 453-474.
6. Evans, W.E. & McLeod, H.L. (2003) Pharmacogenomics-drug disposition, drug targets, and side effects. New England Journal of Medicine, 348, 538-549.
7. Falini, B., Mecucci, C., Tiacci, E., Alcalay, M., Rosati, R., Pasqualucci, L., La Starza, R., Diverio, D., Colombo, E., Santucci, A., Bigerna, B., Pacini, R., Pucciarini, A., Liso, A., Vignetti, M., Fazi, P., Meani, N., Pettirossi, V., Saglio, G., Mandelli, F., Lo-Coco, F., Pelicci, P.G. & Martelli, M.F. (2005) Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. New England Journal of Medicine, 352, 254-266.
8. Falk, I.J., Fyrberg, A., Paul, E., Nahi, H., Hermanson, M., Rosenquist, R., Hoglund, M., Palmqvist, L., Stockelberg, D., Wei, Y., Green, H. & Lotfi, K. (2013) Decreased survival in normal karyotype AML with single-nucleotide polymorphisms in genes encoding the AraC metabolizing enzymes cytidine deaminase and 5'-nucleotidase. American Journal of Hematology, 88, 1001-1006.
9. Gale, R.E., Green, C., Allen, C., Mead, A.J., Burnett, A.K., Hills, R.K. & Linch, D.C. (2008) 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, 111, 2776-2784.
10. Germann, U.A. (1996) P-glycoprotein-a mediator of multidrug resistance in tumour cells. European Journal of Cancer, 32A, 927-944.
11. Green, H., Soderkvist, P., Rosenberg, P., Horvath, G. & Peterson, C. (2006) mdr-1 single nucleotide polymorphisms in ovarian cancer tissue: G2677T/A correlates with response to paclitaxel chemotherapy. Clinical Cancer Research, 12, 854-859.
12. Green, H., Soderkvist, P., Rosenberg, P., Horvath, G. & Peterson, C. (2008) ABCB1 G1199A polymorphism and ovarian cancer response to paclitaxel. Journal of Pharmaceutical Sciences, 97, 2045-2048.
13. Green, H., Falk, I.J., Lotfi, K., Paul, E., Hermansson, M., Rosenquist, R., Paul, C. & Nahi, H. (2012) Association of ABCB1 polymorphisms with survival and in vitro cytotoxicty in de novo acute myeloid leukemia with normal karyotype. Pharmacogenomics Journal, 12, 111-118.
14. Grimwade, D., Walker, H., Harrison, G., Oliver, F., Chatters, S., Harrison, C.J., Wheatley, K., Burnett, A.K. & Goldstone, A.H. (2001) The predictive value of hierarchical cytogenetic classification in older adults with acute myeloid leukemia (AML): analysis of 1065 patients entered into the United Kingdom Medical Research Council AML11 trial. Blood, 98, 1312-1320.
15. Grimwade, D., Hills, R.K., Moorman, A.V., Walker, H., Chatters, S., Goldstone, A.H., Wheatley, K., Harrison, C.J. & Burnett, A.K. (2010) 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, 354-365.
16. van den Heuvel-Eibrink, M.M., Wiemer, E.A., de Boevere, M.J., van der Holt, B., Vossebeld, P.J., Pieters, R. & Sonneveld, P. (2001) MDR1 gene-related clonal selection and P-glycoprotein function and expression in relapsed or refractory acute myeloid leukemia. Blood, 97, 3605-3611.
17. Hoffmeyer, S., Burk, O., von Richter, O., Arnold, H.P., Brockmoller, J., Johne, A., Cascorbi, I., Gerloff, T., Roots, I., Eichelbaum, M. & Brinkmann, U. (2000) Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proceedings of the National Academy of Sciences of the United States of America, 97, 3473-3478.
18. van der Holt, B., Van den Heuvel-Eibrink, M.M., Van Schaik, R.H., van der Heiden, I.P., Wiemer, E.A., Vossebeld, P.J., Lowenberg, B. & Sonneveld, P. (2006) ABCB1 gene polymorphisms are not associated with treatment outcome in elderly acute myeloid leukemia patients. Clinical Pharmacology and Thereapeutics, 80, 427-439.
19. Hur, E.H., Lee, J.H., Lee, M.J., Choi, S.J., Kang, M.J., Seol, M., Jang, Y.E., Lee, H.J., Kang, I.S., Shim, S.K., Ryu, S.G., Kang, Y.A., Lee, Y.S., Park, C.J., Chi, H.S. & Lee, K.H. (2008) C3435T polymorphism of the MDR1 gene is not associated with P-glycoprotein function of leukemic blasts and clinical outcome in patients with acute myeloid leukemia. Leukemia Research, 32, 1601-1604.
20. Illmer, T., Schuler, U.S., Thiede, C., Schwarz, U.I., Kim, R.B., Gotthard, S., Freund, D., Schakel, U., Ehninger, G. & Schaich, M. (2002) MDR1 gene polymorphisms affect therapy outcome in acute myeloid leukemia patients. Cancer Research, 62, 4955-4962.
21. Juliusson, G., Antunovic, P., Derolf, A., Lehmann, S., Mollgard, L., Stockelberg, D., Tidefelt, U., Wahlin, A. & Hoglund, M. (2009) Age and acute myeloid leukemia: real world data on decision to treat and outcomes from the Swedish Acute Leukemia Registry. Blood, 113, 4179-4187.
22. Kim, R.B., Leake, B.F., Choo, E.F., Dresser, G.K., Kubba, S.V., Schwarz, U.I., Taylor, A., Xie, H.G., McKinsey, J., Zhou, S., Lan, L.B., Schuetz, J.D., Schuetz, E.G. & Wilkinson, G.R. (2001) Identification of functionally variant MDR1 alleles among European Americans and African Americans. Clinical Pharmacology and Therapeutics, 70, 189-199.
23. Kimchi-Sarfaty, C., Oh, J.M., Kim, I.W., Sauna, Z.E., Calcagno, A.M., Ambudkar, S.V. & Gottesman, M.M. (2007) A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science, 315, 525-528.
24. Kroetz, D.L., Pauli-Magnus, C., Hodges, L.M., Huang, C.C., Kawamoto, M., Johns, S.J., Stryke, D., Ferrin, T.E., DeYoung, J., Taylor, T., Carlson, E.J., Herskowitz, I., Giacomini, K.M. & Clark, A.G. (2003) Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics, 13, 481-494.
25. Leith, C.P., Kopecky, K.J., Godwin, J., McConnell, T., Slovak, M.L., Chen, I.M., Head, D.R., Appelbaum, F.R. & Willman, C.L. (1997) Acute myeloid leukemia in the elderly: assessment of multidrug resistance (MDR1) and cytogenetics distinguishes biologic subgroups with remarkably distinct responses to standard chemotherapy. A Southwest Oncology Group study. Blood, 89, 3323-3329.
26. Marzac, C., Teyssandier, I., Calendini, O., Perrot, J.Y., Faussat, A.M., Tang, R., Casadevall, N., Marie, J.P. & Legrand, O. (2006) Flt3 internal tandem duplication and P-glycoprotein functionality in 171 patients with acute myeloid leukemia. Clinical Cancer Research, 12, 7018-7024.
27. Marzolini, C., Paus, E., Buclin, T. & Kim, R.B. (2004) Polymorphisms in human MDR1 (P-glycoprotein): recent advances and clinical relevance. Clinical Pharmacology amd Therapeutics, 75, 13-33.
28. Mrozek, K., Marcucci, G., Paschka, P., Whitman, S.P. & Bloomfield, C.D. (2007) Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics: are we ready for a prognostically prioritized molecular classification? Blood, 109, 431-448.
29. Nakao, M., Yokota, S., Iwai, T., Kaneko, H., Horiike, S., Kashima, K., Sonoda, Y., Fujimoto, T. & Misawa, S. (1996) Internal tandem duplication of the flt3 gene found in acute myeloid leukemia. Leukemia, 10, 1911-1918.
30. Renneville, A., Boissel, N., Gachard, N., Naguib, D., Bastard, C., de Botton, S., Nibourel, O., Pautas, C., Reman, O., Thomas, X., Gardin, C., Terre, C., Castaigne, S., Preudhomme, C. & Dombret, H. (2009) The favorable impact of CEBPA mutations in patients with acute myeloid leukemia is only observed in the absence of associated cytogenetic abnormalities and FLT3 internal duplication. Blood, 113, 5090-5093.
31. Robert, J., Morvan, V.L., Smith, D., Pourquier, P. & Bonnet, J. (2005) Predicting drug response and toxicity based on gene polymorphisms. Critical Reviews in Oncology/Hematology, 54, 171-196.
32. Seedhouse, C.H., Grundy, M., White, P., Li, Y., Fisher, J., Yakunina, D., Moorman, A.V., Hoy, T., Russell, N., Burnett, A. & Pallis, M. (2007) Sequential influences of leukemia-specific and genetic factors on p-glycoprotein expression in blasts from 817 patients entered into the National Cancer Research Network acute myeloid leukemia 14 and 15 trials. Clinical Cancer Research, 13, 7059-7066.
33. Seedhouse, C.H., Mills, K.I., Ahluwalia, S., Grundy, M., Shang, S., Burnett, A.K., Russell, N.H. & Pallis, M. (2014) Distinct poor prognostic subgroups of acute myeloid leukaemia, FLT3-ITD and P-glycoprotein-positive, have contrasting levels of FOXO1. Leukemia Research, 38, 131-137.
34. Shaffer, L.G. & Tommerup, N. (2005) ISCN 2005: An International System for Human Cytogenetic Nomenclature (2005): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Karger Medical and Scientific Publishers, Basel, Switzerland. ISBN: 978-3-8055-8019-9.
35. Tanabe, M., Ieiri, I., Nagata, N., Inoue, K., Ito, S., Kanamori, Y., Takahashi, M., Kurata, Y., Kigawa, J., Higuchi, S., Terakawa, N. & Otsubo, K. (2001) Expression of P-glycoprotein in human placenta: relation to genetic polymorphism of the multidrug resistance (MDR)-1 gene. The Journal of Pharmacology and Experimental Therapeutics, 297, 1137-1143.
36. Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, M., Neubauer, A., Ehninger, G. & Illmer, T. (2002) 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, 4326-4335.
37. Wahlin, A., Billstrom, R., Bjor, O., Ahlgren, T., Hedenus, M., Hoglund, M., Lindmark, A., Markevarn, B., Nilsson, B., Sallerfors, B. & Brune, M. (2009) Results of risk-adapted therapy in acute myeloid leukaemia. A long-term population-based follow-up study. European Journal of Haematology, 83, 99-107.