Abstract for presentation at 11th International Congress of Human Genetics

Occurrence of the Burkitt translocation t(8;14) or t(8;22) and the follicular lymphoma translocation t(14;18) together in 7 patients with NHL

  • Shan Lin, Department of Cytogenetics, Children's Hospital at Westmead, Australia
  • Sara Diaz, Department of Cytogenetics, Children's Hospital at Westmead, Australia
  • Praveen Sharma, Department of Cytogenetics, Children's Hospital at Westmead, Australia
  • Luke StHeaps, Department of Cytogenetics, Children's Hospital at Westmead, Australia
  • Dorothy Hung, Department of Cytogenetics, Children's Hospital at Westmead, Australia
  • Arabella Smith, Department of Cytogenetics, Children's Hospital at Westmead, Australia

    • Cytogenetic analysis in malignant lymphoma (NHL) is mainly used when the morphology overlaps types and is indistinct or flow cytometry cannot clearly define cellular populations, and then the detection of a nonrandom cytogenetic abnormality, such as t(14;18), t(8;14), t(8;22) may add considerable useful information for diagnosis and/or management. We report here 7 adults with B cell NHL in which cytogenetic analysis showed two significant translocations together (4 patients) [one with t(14;18) & t(8;14) and 3 with t(14;18) & t(8;22)] or a variant 3-way translocation involving significant breakpoints (3 patients) [t(8;14;18)]. The patients comprised 4 males and 3 females; all had G banded analysis of bone marrow (5) or solid tumour (2) at diagnosis, and FISH. Probes used were CMYC (at 8q24), IgH (at 14q32) and BCL2 (at 18q22) combined with other probes as indicated. FISH showed two fusion signals, confirming that more than one rearrangement was present. These cases suggest complex cytogenetic events, which could be sequential or occur together at one point in time. From literature surveys it appears that such cases are not rare; they are most commonly reported in high grade B cell lymphoma.

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