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Medical Oncology

, Volume 27, Issue 3, pp 667–672 | Cite as

Jumping translocation in acute monocytic leukemia (M5b) with alternative breakpoint sites in the long arm of donor chromosome 3

  • Peter McGrattanEmail author
  • Amy Logan
  • Mervyn Humphreys
  • Margaret Bowers
Original Paper

Abstract

An 86-year-old man presented with acute hepatic failure, worsening thrombocytopenia, and anemia having been diagnosed and managed expectantly with cytogenetically normal RAEB-1. After 20 months a diagnosis of disease transformation to acute monocytic leukemia (M5b) was made. Conventional G-banded analysis of unstimulated bone marrow cultures demonstrated a jumping translocation (JT) involving proximal and distal breakpoints on donor chromosome 3 at bands 3q1?2 and 3q21, respectively. Recipient chromosomes included the long-arm telomeric regions of chromosomes 5, 10, 14, 16, and 19. A low-level trisomy 8 clone was also found in association with both proximal and distal JT clones. Conventional G-banded analysis of unstimulated peripheral blood cultures detected the proximal 3q1?2 JT clone involving recipient chromosome 10 several weeks after transformation to acute monocytic leukemia. Interestingly, JTs involving recipient chromosomes 5, 14, 16, and 19 were not detected in this peripheral blood sample. Palliative care was administered until his demise 2.2 months after disease transformation. There have been fewer than 70 cases of acquired JTs reported in the literature, including one myeloproliferative neoplasm and five acute myeloid leukemias involving a single breakpoint site on donor chromosome 3. Our case is unique as it is the first acquired case to demonstrate a JT involving alternative pericentromeric breakpoint sites on a single donor chromosome consisting of a proximal breakpoint at 3q1?2 and a more distal breakpoint at 3q21.

Keywords

Acute myeloid leukemia Jumping translocation Myelodysplastic syndrome Transformation 

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Copyright information

© Humana Press Inc. 2009

Authors and Affiliations

  • Peter McGrattan
    • 1
    Email author
  • Amy Logan
    • 1
  • Mervyn Humphreys
    • 1
  • Margaret Bowers
    • 2
  1. 1.Northern Ireland Regional Genetics Centre, Belfast City HospitalBelfast Health & Social Care TrustBelfastNorthern Ireland, UK
  2. 2.Department of Hematology, Ulster HospitalSouthern Health & Social Care TrustDundonaldNorthern Ireland, UK

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