Breakpoints at 1p36.3 in three MDS/AML(M4) patients with t(1;3)(p36;q21) occur in the first intron and in the 5′ region of MEL1

Phan Thi Xinh, Nguyen Khanh Tri, Hiromasa Nagao, Hiroshi Nakazato, Fumitoshi Taketazu, Shin Fujisawa, Fumiharu Yagasaki, Ying Zhang Chen, Yasuhide Hayashi, Atsushi Toyoda, Masahira Hattori, Yoshiyuki Sakaki, Katsushi Tokunaga, Yuko Sato*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)


The recurrent translocation t(1;3)(p36;q21) is associated with myelodysplastic syndrome (MDS)/acute myelogenous leukemia (AML) characterized by trilineage dysplasia, especially dysmegakaryopoiesis and a poor prognosis. Recently, the two genes involved in this translocation have been identified: the MEL1 gene at 1p36.3, and the RPN1 gene at 3q21. The breakpoint in RPN1 is centromeric to the breakpoint cluster region of the inv(3) abnormality. Because the MEL1 transcript is detected only in leukemic cells with t(1;3)(p36;q21), ectopic expression of MELI driven by RPNI at 3q21 is thought to contribute to the pathogenesis of t(1;3)(p36;q21) leukemia. However, the precise breakpoint in the patients has not yet been identified. With fluorescence in situ hybridization analysis by use of BAC/PAC probes, we identified the breakpoint at 1p36.3 in three MDS/AML patients with (1;3)(p36;q21): within the first intron of the of the MEL1 gene (one patient) or within a 29-kb region located in the 5′ region of MEL1 (two other patients). We detected several sizes of MEL1 transcript in two patients including the first patient, although we have not yet clarified whether MEL1 transcripts were different among the patients and whether a truncated MEL1 transcript was expressed in the first patient. This patient showed an unusual clinical profile, repeating progression to overt leukemia and conversion to MDS three times during the 29-month survival period, which might be related to a different molecular mechanism in this patient.

Original languageEnglish
Pages (from-to)313-316
Number of pages4
JournalGenes Chromosomes and Cancer
Issue number3
Publication statusPublished - 2003 Mar 1
Externally publishedYes

ASJC Scopus subject areas

  • Cancer Research
  • Genetics


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