Additional chromosomal anomaly add(7)(q36?) in chronic myeloid leukemia – case report
Chronic myeloid leukemia (CML), a clinico-pathological entity defined by the invariable presence of BCR/ABL rearrangement, is one of the most studied human malignancy. Besides well known major and minor route additional genetic abnormalities novel chromosomal anomalies continue to be reported, offering new insights in understanding disease biology and possible prognostic criteria in particular cases.
In this paper we present a 28 year-old male patient with Philadelphia positive - CML and an additional aberration add(7)(q).
The hematologic features: hyperleukocytosis (300x109/L), differential leukocytes count (blasts 10%, promyelocytes 4%, myelocytes 8%, metamyelocytes 14%, segmented granulocytes 37%, eosinophils 14%, basophils 12%, lymphocytes 11%), and thrombopenia 121x109/L are consistent with accelerated phase of CML.
Chromosomal studies were performed after short term cultivation, by standard procedures and GTG banding.
The translocation t(9;22)(q34; q11) was observed in all bone marrow cells. A structural rearrangement involving the distal region of 7q, add(7)(q36?), has been detected in 67% of the Ph-positive cells. FISH studies with chromosome 7 and 9 WCP probe are ongoing. Imatinib mesylate therapy has been initiated after cytoreductive treatment.
Unbalanced rearrangements of chromosome 7 in advanced phase CML are not unusual, monosomy and del(7)(q) being the most frequent. Few cases have been reported with additional material on the 7 p arm.
The influence of add(7)(q) on disease evolution and Glivec outcome is difficult to predict in this case, hence thorough hematological and cytogenetic monitoring is recommended.