Chronic myelogenous leukemia (CML) with variant Philadelphia chromosome
- Albany Medical College, Albany, NY (United States); and others
Approximately 95% of patients with CML have the Philadelphia chromosome (Ph). Less than 10% of these have variant translocations. A 39-year-old male was diagnosed with CML after bone marrow examination. Cytogenetic studies showed a variant Ph chromosome, 46,X,t(16;22)(p13,q11), with chromosome 9 appearing cytogenetically normal. Southern blot analysis of peripheral blood showed BCR rearrangement within the 5.8 kb major breakpoint region. Reverse transriptase PCR (RT-PCR) studies confirmed the involvement of the C-ABL gene from chromosome 9. One year later, prior to matched unrelated transplant, a repeat marrow showed t(3;21) in addition to the variant Ph chromosome. Five months post-transplant, bone marrow showed only normal 46,XX donor cells and BCR rearrangement was not detectable by secondary RT-PCR. Two months later, a nodule, which proved to be a chloroma, was removed from the skin. Molecular studies of nodular DNA showed BCR rearrangement and cytogenetic studies showed karyotypic progression: 45,XY,t(3;21),t(4;8),t(16;22),-7. The patient`s marrow continued to show normal 46,XX donor chromosomes, but secondary RT-PCR studies showed marrow involvement. The disease progressed and the patient died. This case is remarkable for the rare variant Ph translocation, the extramedullary and skin disease progression, and the monitoring with secondary RT-PCR studies, along with cytogenetic analysis. These techniques, combined, lead to a more accurate assessment and follow-up of the disease progression.
- OSTI ID:
- 134534
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1268
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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