In a small percentage of cases of chronic myelogenous leukemia (CML), where the Ph chromosome is masked because of highly complex translocations and sub-microscopic rearrangements, precise identification of chromosomal aberrations by routine banding techniques has been difficult. We report on a new
Transposition ofc-abloncogene in a case of masked Ph chromosome duplicated in blastic phase
✍ Scribed by Emanuela Maserati; P. Cavalli; R. Casalone; S. Morandi; F. Pasquali
- Book ID
- 104707555
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 392 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
A female with chronic myelocytic leukemia (CML) in blastic phase (BP) showed a masked Ph chromosome that had originated by a translocation between chromosomes 8 and 22, with no obvious involvement of chromosome 9. A duplication of the masked Ph and trisomy 13 were present as additional anomalies. The karyotype on peripheral blood unstimulated cultures was 48,XX,t(8;22)(p12;q11),+13,+der(22) t(8;22)/47,XX,t(8;22)(p12;q11),+der(22)t(8;22). While the duplication of the Ph is a frequent finding in BP of CML, we did not find any other case in the literature with duplication of a masked Ph. In situ hybridization with c-abl and bcr probes showed that a 3' bcr sequence was translocated to the der(8) chromosome, while the c-abl oncogene was transposed to the masked Ph.
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