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


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.


Acute myeloid leukemia Jumping translocation Myelodysplastic syndrome Transformation 


  1. 1.
    Aledo R, Aurias A, Chretien B, Dutrillaux B. Jumping translocation of chromosome 14 in a skin squamous cell carcinoma from a xeroderma pigmentosum patient. Cancer Genet Cytogenet. 1988;33:29–33.CrossRefPubMedGoogle Scholar
  2. 2.
    Berger R, Bernard OA. Jumping translocations. Genes Chromosom Cancer. 2007;46:717–23.CrossRefPubMedGoogle Scholar
  3. 3.
    Shinohara T, Takayama J, Enomoto Y. ‘Wandering translocation’ (jumping translocation) of a trisomy whole q of chromosome 1 in acute leukemia, probable occurring during lineage switch from ALL FAB-L1 to M7. Blood. 1990;76(Supp. 1):320a.Google Scholar
  4. 4.
    Asahara A, et al. A case of acute leukemia with chromosome abnormalities ‘jumping translocation. Jpn Clin Hematol. 1991;32:1244.Google Scholar
  5. 5.
    Najfeld V, et al. Jumping translocations in leukemia. Leukemia. 1995;9:634–9.PubMedGoogle Scholar
  6. 6.
    Busson Le Coniat M, et al. Interstitial telomere repeats in translocations of hematopoietic disorders. Leukemia. 2000;14:1630–3.CrossRefPubMedGoogle Scholar
  7. 7.
    Huret JL, Tanzer J, Guilhot F, Frocrain-Herchkovich C, Savage JRK. Karyotype evolution in the bone marrow of a patient with Fanconi Anemia: breakpoints in clonal anomalies of this disease. Cytogenet Cell Genet. 1988;48:224–7.CrossRefPubMedGoogle Scholar
  8. 8.
    Shikano T, Arioka H, Kobayashi R, Naito H, Ishikawa Y. Jumping translocations of 1q in Burkitt lymphoma and acute non lymphocytic leukemia. Cancer Genetic Cytogenet. 1993;71:22–6.CrossRefGoogle Scholar
  9. 9.
    Hatakeyama S, Fujita K, Mori H, Omine M, Ishikawa F. Shortened telomeres involved in a case with a jumping translocation at 1q21. Blood. 1998;91:1514–9.PubMedGoogle Scholar
  10. 10.
    Reddy KS, Parsons L, Colman L. Jumping translocations involving chromosome 1q in a patient with Crohn’s disease and acute monocytic leukemia: a review of the literature on jumping translocations in hematological malignancies and Crohn’s disease. Cancer Genetic Cytogenet. 1999;109:144–9.CrossRefGoogle Scholar
  11. 11.
    Reis MD, et al. Jumping’ translocations involving band 3q13.3 in a case of acute monocytic leukemia. Cancer Genet Cytogenet. 1991;51:189–94.CrossRefPubMedGoogle Scholar
  12. 12.
    Bernard M, et al. Jumping translocation in acute leukemia of myelomonocytic lineage: case report and review of the literature. Leukemia. 2000;14:119–22.CrossRefPubMedGoogle Scholar
  13. 13.
    Andreasson P, et al. Molecular characterization of jumping translocations reveals spatial and temporal breakpoint heterogeneity. Leukemia. 1998;12:1411–6.CrossRefPubMedGoogle Scholar
  14. 14.
    Batanian JR, Dunphy CH, Wall DA. Jumping translocations of 3q in acute promyelocytic leukemia. Cancer Genet Cytogenet. 1998;108:149–53.CrossRefGoogle Scholar
  15. 15.
    Schoch C, et al. De novo or therapy related AML? Different breakpoints of view discussed on a case of AML M2 with t(8;21)(q22;q22) and a jumping translocation involving chromosome band 3q21. Ann Hematol. 1996;73(Suppl 1):A101.Google Scholar
  16. 16.
    Yao-Shan F, Kamilia R, Brien FW, Engel CJ. Jumping translocations of 11q in acute myeloid leukemia and 1q in follicular lymphoma. Cancer Genet and Cytogenet. 2000;118:35–41.CrossRefGoogle Scholar
  17. 17.
    Cuthbert G, McCullough S, Finney R, Breese G, Bown N. Jumping translocation at 11q23 with MLL gene rearrangement and interstitial telomeric sequences. Genes Chromosom Cancer. 1999;24:295–8.CrossRefPubMedGoogle Scholar
  18. 18.
    Yoshida T, et al. Jumping translocation of homogeneously staining region and tetraploidy with double minutes in acute myelomonocytic leukemia. Cancer Genet Cytogenet. 1999;109:40–4.CrossRefPubMedGoogle Scholar
  19. 19.
    McGrattan P, Humphreys M, Hull D. Unbalanced jumping translocation involving 3q in myeloproliferative disease: novel case report and review of the literature. Med Oncol. 2008. doi: 10.1007/s12032-008-9074-y (published online first).
  20. 20.
    Greenberg P, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89(6):2079–88.PubMedGoogle Scholar
  21. 21.
    Germing U, et al. Refractory anaemia with excess blasts (RAEB): prospective validation of the WHO proposals for the classification of myelodysplastic syndromes. British Haematol. 2006;91:1596–604.Google Scholar
  22. 22.
    Germing U, et al. Refractory anaemia with excess blasts (RAEB): analysis of reclassification according to the WHO proposals. Br J Haematol. 2006;132:162–7.CrossRefPubMedGoogle Scholar
  23. 23.
    Mrózek K, Marcucci G, Paschka P, Whitman SP, Bloomfield CD. Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics: are we ready for prognostically prioritized molecular classification? Blood. 2007;109:431–48.CrossRefPubMedGoogle Scholar
  24. 24.
    Sawyer JR, Tricot G, Mattox S, Jagannath S, Barlogie B. Jumping translocations of chromosome 1q in multiple Myeloma: evidence for a mechanism involving decondensation of pericentromeric heterochromatin. Blood. 1998;91:1731–41.Google Scholar
  25. 25.
    Gray BA, et al. Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma. Cancer Genet Cytogenet. 1997;98:20–7.CrossRefPubMedGoogle Scholar
  26. 26.
    Wan TSK, et al. Pathogenesis of jumping translocations: a molecular cytogenetics study. Leuk Res. 2004;28:1075–9.CrossRefPubMedGoogle Scholar
  27. 27.
    Kanome T, et al. Characterization of jumping translocation breakpoint (JTB) gene product isolated as a TGF-β1-inducible clone involved in regulation of mitochondrial function, cell growth and cell death. Oncogene. 2007;26:5991–6001.CrossRefPubMedGoogle Scholar
  28. 28.
    De Lange T. Telomere dynamics and genome instability in human cancer. In: Blackburn EH, Greider CW, editors. Telomeres. New York, NY: Cold Spring Laboratory; 1995. p. 265–75.Google Scholar
  29. 29.
    Paulsson H, Johansson B. Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes. Pathol Biol. 2007;55:37–48.CrossRefPubMedGoogle Scholar

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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