Cell karyotyping in patients with small lymphocytic lymphoma/chronic lymphocytic leukemia （SLL/CLL） is not easy to success, and small genomic lesions （〈5 Mb） are not routinely detected by this method. It is likely that a complete genomic characterization of CLL requires a combination of fluorescence in situ hybridization （FISH）, single nucleotide polymorphism （SNP） array profiling for comprehensive genome-wide analysis of acquired genomic copy number aberrations （aCNAs） and loss-of-heterozygosity （LOH） in dominant clones, and karyotyping for detection of balanced translocations, isochromosomes, and marker chromosomes. SNP array analysis can reveal chromothripsis, a phenomenon by which regions of the cancer genome are shattered and recombined to generate frequent oscillations between the lower and the higher DNA copy number states. This study provided cytogenetic findings in a CLL/SLL patient with v-myc avian myelocytomatosis viral oncogene homolog （C-MYC）-amplification by FISH, in which SNP arrays detected profound genomic upheaval due to chromothripsis that may lead to malignant transformation.
