Cytogenetic and molecular evidence of marrow involvement in extramedullary acute myeloid leukaemia

Debra M. Lillington, Rina J. Jaju, A. G. Shankar, Michael Neat, Lyndal Kearney, Bryan D. Young, Vaskar Saha

    Research output: Contribution to journalArticlepeer-review

    Abstract

    A diagnosis of granulocytic sarcoma was made in a 2-year-old child based on the detection of myelomonocytic blasts in tissue obtained from a subcutaneous nodule with no evidence of concomitant disease in the bone marrow. The child responded to systemic chemotherapy and is in remission 3 years later. An identical clone with an in frame fusion of the MLL and AF10 genes was identified from both tissue and bone marrow samples. The generation of an in frame MLL-AF10 fusion requires complex intra- and interchromosomal exchanges between chromosomes 10 and 11. In this case, an intrachromosomal rearrangement of chromosome 5 was also observed. This case illustrates the presence of systemic disease in extramedullary leukaemia, its response to systemic rather than topical therapy and suggests that the events leading to chromosomal translocations in leukaemia may be part of a generalized intracellular event.
    Original languageEnglish
    Pages (from-to)547-551
    Number of pages4
    JournalBritish Journal of Haematology
    Volume110
    Issue number3
    DOIs
    Publication statusPublished - 2000

    Keywords

    • AF10
    • Granulocytic sarcoma
    • Medullary disease
    • MLL

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