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Cytogenetics and Molecular Genetics

Unbalanced translocation der(1;7)(q10;p10) defines a unique clinicopathological subgroup of myeloid neoplasms

Abstract

The unbalanced translocation, der(1;7)(q10;p10), is one of the characteristic cytogenetic abnormalities found in myelodysplastic syndromes (MDS) and other myeloid neoplasms. Although described frequently with very poor clinical outcome and possible relationship with monosomy 7 or 7q- (−7/7q-), this recurrent cytogenetic abnormality has not been explored fully. Here we analyzed retrospectively 77 cases with der(1;7)(q10;p10) in terms of their clinical and cytogenetic features, comparing with other 46 adult −7/7q- cases without der(1;7)(q10;p10). In contrast with other −7/7q- cases, where the abnormality tends to be found in one or more partial karyotypes, der(1;7)(q10;p10) represents the abnormality common to all the abnormal clones and usually appears as a sole chromosomal abnormality during the entire clinical courses, or if not, is accompanied only by a limited number and variety of additional abnormalities, mostly trisomy 8 and/or loss of 20q. der(1;7)(q10;p10)-positive MDS cases showed lower blast counts (P<0.0001) and higher hemoglobin concentrations (P<0.0075) at diagnosis and slower progression to acute myeloid leukemia (P=0.0043) than other −7/7q- cases. der(1;7)(q10;p10) cases showed significantly better clinical outcome than other −7/7q cases (P<0.0001). In conclusion, der(1;7)(q10;p10) defines a discrete entity among myeloid neoplasms, showing unique clinical and cytogenetic characteristics.

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Acknowledgements

We are grateful to the late Professor Hisamaru Hirai, who initially promoted and encouraged this work. We also thank Dr Masaaki Takatoku of Jichi Medical School and Dr Hiroshi Harada of Showa University Fujigaoka Hospital, Dr Yukihiro Arai of Dokkyo University, Dr Akira Matsuda and Dr Motohiro Misumi of Saitama Medical School, Dr Yuta Koyama of Honma Hospital, Dr Ikuo Miura of Akita University, Dr Hideaki Mizoguchi of Tokyo Women's Medical University and Dr Takuhei Murase of Nishio Municipal Hospital for providing case reports. This work was supported by Research on Measures for Intractable Diseases, Health and Labor Sciences Research Grants, Ministry of Health, Labor and Welfare and by Research on Health Sciences focusing on Drug Innovation, The Japan Health Sciences Foundation.

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Correspondence to S Ogawa.

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Supplementary Information accompanies the paper on the Leukemia website (http://www.nature.com/leu)

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Sanada, M., Uike, N., Ohyashiki, K. et al. Unbalanced translocation der(1;7)(q10;p10) defines a unique clinicopathological subgroup of myeloid neoplasms. Leukemia 21, 992–997 (2007). https://doi.org/10.1038/sj.leu.2404619

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