title: Jumping translocation in acute monocytic leukemia (M5b) with alternative breakpoint sites in the long arm of donor chromosome 3.
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.
authors.affiliation: Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast Health & Social Care Trust, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK. peter.mcgrattan@belfasttrust.hscni.net
authors.forename: Peter
authors.initials: P
authors.lastname: McGrattan
authors.forename: Amy
authors.initials: A
authors.lastname: Logan
authors.forename: Mervyn
authors.initials: M
authors.lastname: Humphreys
authors.forename: Margaret
authors.initials: M
authors.lastname: Bowers
mesh_terms: D000369:Aged, 80 and over; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics; D056905:Chromosome Breakpoints; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics* / Q000648:ultrastructure; D018450:Disease Progression; D006801:Humans; D007948:Leukemia, Monocytic, Acute / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic