Identification of novel chromosomal rearrangements in acute myelogenous leukemia involving loci on chromosome 2p23, 15q22 and 17q21

A. Melnick, S. Fruchtman, A. Zelent, M. Liu, Q. Huang, B. Boczkowska, M. J. Calasanz, A. Fernandez, J. D. Licht, V. Najfeld

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Chromosomal translocations are frequently linked to multiple hematological malignancies. The study of the resulting abnormal gene products has led to fundamental advances in the understanding of cancer biology. This is the first report of t(2;15)(p23;q22) and t(2;17)(p23;q21) translocations in human malignancy. Patient 1, a 73-year-old male, was diagnosed with myeloblastic (FAB M1 sub-type) AML. Cytogenetic analysis showed a 47,XY,t(2;15)(p23;q22),+ 13 karyotype. Fluorescent in situ hybridization (FISH) showed that the PML gene was transferred intact to the short arm of chromosome 2 while the ALK gene on chromosome 2p23 was passively transferred to the long arm of chromosome 15. Patient 2 was a 60-year-old male diagnosed with monocytic (FAB M4-type) AML. Cytogenetic analysis showed 46,XY,t(2;17)(p23;q21) karyotype. FISH analysis showed that neither RARα nor ALK were disrupted by the translocation. None of the coding region of the three genes studied were translocated in these patients. This raises the possibilities that other neighboring genes could be involved or that noncoding regulatory sequences of the studied genes could be put in contact and deregulate expression of other genes. Alternatively, displacement of ALK, RARα and PML to novel positions could lead to loss of their normal regulation.

Original languageEnglish (US)
Pages (from-to)1534-1538
Number of pages5
JournalLeukemia
Volume13
Issue number10
DOIs
StatePublished - Jan 1 1999

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Keywords

  • Acute myelogenous leukemia
  • Cytogenetics
  • Fluorescent
  • In situ hybridization
  • Translocation
  • Tumor genetics

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

Cite this

Melnick, A., Fruchtman, S., Zelent, A., Liu, M., Huang, Q., Boczkowska, B., Calasanz, M. J., Fernandez, A., Licht, J. D., & Najfeld, V. (1999). Identification of novel chromosomal rearrangements in acute myelogenous leukemia involving loci on chromosome 2p23, 15q22 and 17q21. Leukemia, 13(10), 1534-1538. https://doi.org/10.1038/sj.leu.2401513