Transposition of c-abl oncogene in a case of masked Ph chromosome duplicated in blastic phase |
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Authors: | Emanuela Maserati P Cavalli R Casalone S Morandi F Pasquali |
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Institution: | (1) Biologia Generale e Genetica Medica, Universitá di Pavia, C. P. 217, I-27100 Pavia, Italy;(2) Ospedale di Cremona, I-26100 Cremona, Italy |
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Abstract: | Summary 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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