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A genome‐wide single‐nucleotide polymorphism‐array can improve the prognostic stratification of the core binding factor acute myeloid leukemia
Authors:Chul Won Jung  Hee‐Jin Kim  Sun‐Hee Kim  Yeo‐Kyeoung Kim  Hyeoung‐Joon Kim  Myung Geun Shin  Joon Ho Moon  Sang Kyun Sohn  Sung Hyun Kim  Won Sik Lee  Jong Ho Won  Yeung Chul Mun  Hawk Kim  Jinny Park  Woo Sung Min  Dong Hwan Kim  ; on behalf of AML/MDS working party  Korean Society of Hematology
Institution:1. Division of Hematology/Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea;2. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea;3. Department of Hematology/Oncology, Chonnam National University Hwasun Hospital, Chonnam National University, Hwasun, Korea;4. Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Chonnam National University, Hwasun, Korea;5. Department of Hematology/Oncology, Kyungpook National University Hospital, Kyungpook National University, Daegu, Korea;6. Department of Hematology/Oncology, DongA University Medical Center, DongA University, Busan, Korea;7. Department of Hematology/Oncology, Inje University Busan Paik Hospital, Busan, Korea;8. Department of Hematology/Oncology, Soonchunhyang University Seoul Hospital, Seoul, Korea;9. Department of Hematology/Oncology, Ewha Womans University School of Medicine, Seoul, Korea;10. Department of Hematology/Oncology, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea;11. Department of Hematology/Oncology, Gachon University Gil Hospital, Gachon University of Medicine and Science School of Medicine, Incheon, Korea;12. Department of Hematology, Catholic Blood and Marrow Transplantation Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea;13. Department of Medical Oncology and Hematology, Princess Margaret Hospital, University of Toronto, Toronto, Canada
Abstract:Core binding factor (CBF) AML with the D816 C‐KIT gene mutation demonstrate inferior treatment outcomes. However, the remaining cases without the D816 C‐KIT mutation imply a requirement of more sophisticated dissection of the patients according to their prognosis. In this study, we analyzed the prognostic value of a single nucleotide polymorphism array (SNP‐A) based karyotyping combined with metaphase cytogenetics (MC) to facilitate further stratification of CBF AML patients. A total of 98 CBF AML patients were included and genome‐wide Human SNP 6.0 Arrays (Affymetrix) were performed using marrow samples taken at diagnosis. Overall, 40 abnormal lesions were identified in 25 patients (26%). Survival of the patients with the abnormal lesion(s) detected by SNP‐A and/or MC was worse than those without lesions in terms of the 2‐year overall survival (OS; 57.5% vs. 76.4%, P = 0.028), event‐free (EFS; 45.7% vs. 66.2%, P = 0.072), and leukemia‐free survival (LFS; 49.0% vs. 77.4%, P = 0.015), specially in the subgroup with inv(16)/t(16;16) (40.9% vs. 80.2% OS, P = 0.040) and in the subgroup without the D816 C‐KIT mutation (61.6% vs. 82.7% OS, P = 0.038). Multivariate analysis confirmed the prognostic impact of the abnormal SNP‐A and/or MC lesion on EFS (HR 2.011, P = 0.047), and LFS (HR 3.231, P = 0.005) in the overall CBF AML. This study suggests that the combined use of SNP‐A with MC in the CBF AML can provide important prognostic value, especially in the inv(16)/t(16;16) subgroup or in the patients without the D816 C‐KIT mutation. Am. J. Hematol., 2012. © 2012 Wiley Periodicals, Inc.
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