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The reciprocal translocation t(9;22)(q34;q11), leading to the formation of two fusion genes, BCR/ABL and ABL/BCR, is found in 90-95% of cases with chronic myeloid leukemia (CML). ABL-BCR expression does not correlate with prognosis, as assessed by cytogenetic response, since the ABL/BCR gene is expressed in only a proportion of CML patients. This study examined an exceptional BCR/ABL-positive CML case with inversion in 9q22q34 leading to the absence of ABL/BCR. Moreover, an unbalanced translocation between chromosomes 10 and 17 which caused deletion of the TP53 gene was identified. The TP53 gene plays a potential role in CML progression, and loss of TP53 may be regarded as a poor prognostic factor.

A rare case of Philadelphia chromosome-positive chronic myelogenous leukemia with inversion in chromosome 9 and t(10;17)