International Journal of Hematology

, Volume 75, Issue 5, pp 503–507 | Cite as

Fusion ofMLL andMSF in Adult De Novo Acute Myelomonocytic Leukemia (M4) with T(11;17)(Q23;Q25)

  • Koh Yamamoto
  • Fumi Shibata
  • Mitsuko Yamaguchi
  • Osamu Miura
Case Report


TheMLL gene at chromosome band 11q23 is frequently rearranged and fused to partner genes in acute leukemias. Previously, theMSF gene, also calledAF17q25, has been cloned as a fusion partner of theMLL gene in therapy-related or infant acute myelogenous leukemias with t(11;17)(q23;q25). MSF belongs to the septin family of proteins, which includes other MLL fusion partners, hCDCrel1 and Septin 6, and has also been implicated in the pathogenesis of human ovarian tumor and murine T-cell lymphoma. We describe here a 64-year-old man with de novo acute myelomonocytic leukemia (French-American-British subtype M4) with t(11;17)(q23;q25). His leukemia was successfully induced into a first remission, which, however, lasted only briefly. A second remission was never attained, and the patient died of sepsis 16 months after the diagnosis of leukemia. Examination of his leukemic cells at diagnosis revealed anMLL gene rearrangement, by Southern blotting, and anMLL-MSF fusion transcript, by the reverse transcriptase polymerase chain reaction (RT-PCR) method. Sequence analysis of the RT-PCR product further revealed thatMLL exon 5 was fused in-frame toMSF exon 3. Further clinical and molecular analyses of acute leukemias with theMLL-MSF transcript may shed more light on the clinical characteristics and molecular mechanisms of the MLL-septin type leukemias.

Key words

MLL MSF Septin Chromosomal translocation Leukemia 


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Copyright information

© The Japanese Society of Hematology 2002

Authors and Affiliations

  • Koh Yamamoto
    • 1
  • Fumi Shibata
    • 1
  • Mitsuko Yamaguchi
    • 1
  • Osamu Miura
    • 1
  1. 1.Department of Hematology and OncologyTokyo Medical and Dental UniversityTokyoJapan

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