Case report

A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3

Walid Al Achkar¹ , Abdulsamad Wafa¹ , Hasmik Mkrtchyan^2,3 , Faten Moassass¹ and Thomas Liehr²

¹  Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria

²  Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany

³  Department of Genetic and Laboratory of Cytogenetics, State University, Yerevan, Armenia

author email corresponding author email

Molecular Cytogenetics 2010, 3:6doi:10.1186/1755-8166-3-6

Published:	16 March 2010

Abstract

Background

The so-called Philadelphia (Ph) chromosome is present in almost all cases with chronic myeloid leukemia (CML). Around 5-10% of these patients show complex translocations involving other chromosomes in addition to and/or besides chromosomes 9 and 22. As nowadays most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though events of therapy resistance remain to be studied.

Results

Here we report a Ph chromosome positive patient with hematological typical chronic phase CML. Untypically, an unbalanced complex rearrangement involving chromosomes 16 and 17 leading to a deletion of 16pter and partial trisomy of 17q21 to 17qter, was identified besides a trisomy 8 and an additional Ph chromosome in a part of malignant cells.

Conclusion

Here a novel and cytogenetically unique case of a Ph chromosome positive CML clinically in chronic phase is reported, having complex secondary chromosomal aberrations. Thus, CML patients with complex chromosomal changes are nonetheless treatable by Imatinib.