Identification of a t(6;19)(p21;q13) translocation in a t(9;22)(q34;q11) Ph-positive CML by FISH
- Long Island College Hospital, Brooklyn, NY (United States); and others
More than 90% of the reported cases of chronic myelogenous leukemia (CML) have the typical t(9;22)(q34;q11) translocation as the only abnormality. Approximately 5 to 8% of CML cases have so-called variant translocations where either one or more chromosomes is involved with the t(9;22) or an additional translocation has arisen. What is most unusual is that, clinically, these cases do not differ from standard CML. We report a case of CML who presented with typical clinical symptoms and the standard t(9;22) plus a t(6;19)(p21;q13) translocation. We used the FISH technique with whole chromosome 6 painting probe (GIBCO/BRL, Gaithersburg, MD) and whole chromosome 19 painting probe (Oncor, Gaithersburg, MD) to verify the unusual tanslocation. We then applied the two color ABL/BCR probe (Oncor) to establish that the ABL gene had translocated to the BCR gene on chromosome 22 and was not involved in the separate t(6;19) translocation. The t(6;19) has been reported in three previous cases; however, in all three, there was at least one additional translocation besides the t(9;22) and the t(6;19). The 6p21 breakpoint is frequently involved in variant translocations with chromosomes 9 and 22, and chromosome 19 is one of the most frequent aberrations detected in blast crisis. It is obvious that molecular characterization of these unusual cases should help to further elucidate this disease.
- OSTI ID:
- 134522
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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