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Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement

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Abstract

SET-NUP214 rearrangement is a recently recognized recurrent chromosomal translocation mostly observed in T-ALL. In order to characterize this rare entity, we performed phenotypic and genetic characterization of SET-NUP214 rearrangement through an investigation of a series of 40 consecutive samples of adult T-ALL that was selected among 229 adult ALL cases during 4 years in a single institution. Four cases (10%) of SET-NUP214 translocation were identified in our study. In all cases, diagnosis of T-ALL was established according to the World Health Organization (WHO) classification, and clonal TCR rearrangements were found. The immunophenotypic markers were indicative of the precursor nature of T lymphoblasts, and they expressed one or both of the myeloid-associated antigens (CD13, CD33). Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del(12)(p13)/ETV6 was frequently involved. Array-CGH demonstrated additional genomic imbalances in addition to deletion 9q34. The genomic breakpoint sequencing identified breakpoints at SET intron 7 and NUP214 intron 17, and random nucleotide addition was found in two cases at the site of rearrangement. Our independently derived data set from a single institution confirms previous findings of SET-NUP214 rearrangement, indicates the relatively high incidence of SET-NUP214 rearrangement in adult T-ALLs, and also demonstrates comprehensive clinical, phenotypic, and genetic characteristics of this entity. Also, our report on genomic breakpoints demonstrates the homogeneity in the localization of the genomic breakpoints at 9q34. Concurrent chromosomal aberrations identified in this study should provide further areas of interest in investigation of SET-NUP214-mediated leukemogenesis.

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Acknowledgements

This study was supported by a grant from the Korea Healthcare technology R&D Project, Ministry for Health, Welfare & Family Affairs, Republic of Korea (SN: A092258). Thanks to Dr. Geon Park of the Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, South Korea, for advice on methodology in this study.

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The authors declare no conflict of interest.

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Authors and Affiliations

  1. Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, South Korea

    Hyojin Chae, Jihyang Lim, Myungshin Kim, Joonhong Park, Yonggoo Kim & Kyungja Han

  2. Catholic Blood and Marrow Transplantation Center, College of Medicine, The Catholic University of Korea, Seoul, South Korea

    Seok Lee & Woo Sung Min

  3. Department of Laboratory Medicine, Seoul St. Mary’s Hospital, 505 Banpo-dong, Seocho-gu, Seoul, 137–701, South Korea

    Jihyang Lim & Yonggoo Kim

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  1. Hyojin Chae
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  2. Jihyang Lim
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  3. Myungshin Kim
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  4. Joonhong Park
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  5. Yonggoo Kim
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  7. Seok Lee
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Correspondence to Jihyang Lim or Yonggoo Kim.

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Chae, H., Lim, J., Kim, M. et al. Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement. Ann Hematol 91, 193–201 (2012). https://doi.org/10.1007/s00277-011-1289-x

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