Molecular cytogenetic analysis of complex karyotypes with derivative chromosome der(1)t(1;5) found in two patients...

Two patients with myeloid hematological malignancies were examined with conventional cytogenetic analysis, and complex chromosomal aberrations were found. Multicolor FISH (mFISH) was used to clarify these rearrangements. A similar translocation between chromosomes 1 and 5 was revealed in both patients. To specify breakpoints, high-resolution multicolor banding (mBAND) for chromosome 1 and chromosome 5 was performed. The breakpoints were resolved as der(1)t(1;5)(p21;p12) in patient 1 and as der(1)t(1;5)(p21;p11) in patient 2. The breakpoint on chromosome 1 was the same in both patients, in the 1p21 region. This region contains the colony stimulating factor 1 gene (CSF1), which may play a role in tumorigenesis of myeloid tissue.