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Molecular cytogenetic characterization and clinical relevance of additional, complex and/or variant chromosome abnormalities in acute promyelocytic leukemia

Leukemia volume 15, pages 1359–1368 (2001)Cite this article

Abstract

Acute promyelocytic leukemia (APL) is characterized by typical morphological manifestation, t(15;17) translocation and active response to all-trans retinoic acid (ATRA) in the great majority of patients. However, a subset of APL cases may present atypical phenotypic, cytogenetic or molecular features at different stages of the disease. The biological and clinical significance of these features sometimes remains obscure. In this study, 284 APL patients were cytogenetically analyzed and precise diagnosis was performed according to the molecular cytogenetic results. Twenty-six APL patients were identified as having additional, complex and/or variant chromosomal abnormalities at diagnosis or at relapse, 16 of them being further analyzed using fluorescence in situ hybridization (FISH) or chromosome painting (CP). Interestingly, some of these chromosomal aberrations were found to be associated with atypical morphology and/or drug response, indicating a genotype–phenotype correlation. Analysis of the complex karyotype may also allow a better understanding of the levels of cellular origin of the leukemogenesis. Examination of the remission induction and survival data showed that the presence of the additional/complex chromosome abnormalities was related to the prognosis in both primarily diagnosed and relapsed patients in this series.

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Acknowledgements

This work was supported in part by the National Natural Science Foundation of China, the Chinese National Key Program for Basic Research (973) and the Clyde Wu Foundation of Shanghai Institute of Hematology. The authors thank Prof Anne Hagemeijer for kindly giving us the P1164 and Co 664 clones and thank all members of Shanghai Institute of Hematology, Rui Jin Hospital and the colleagues from Ren-Ji, Xin-Hua, Zhong-Shan, Shanghai Children's Hospital, Chang-Zheng, Hua-Dong and Chang-Ning District Central Hospital for providing patient samples and clinical data.

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  1. L Xu and W-L Zhao: Lan Xu and Wei-Li Zhao should be considered as equal first authors

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  1. Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Second Medical University, Shanghai, PR China

    L Xu, W-L Zhao, S-M Xiong, X-Y Su, M Zhao, C Niu, Q Cao, B-W Gu, Y-M Zhu, J Gu, J Hu, H Yan, Z-X Shen, Z Chen & S-J Chen

  2. Shanghai 1st Hospital, Shanghai, PR China

    C Wang & Y-R Gao

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Xu, L., Zhao, WL., Xiong, SM. et al. Molecular cytogenetic characterization and clinical relevance of additional, complex and/or variant chromosome abnormalities in acute promyelocytic leukemia. Leukemia 15, 1359–1368 (2001). https://doi.org/10.1038/sj.leu.2402205

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