Gene Profile

Genetic and molecular events leading to the development of HCL are not well established. Cytogenetic data confirmed by comparative genomic hybridization studies show that the majority of HCL cases have a normal, or at least balanced karyotype.58-60 Abnormalities involving chromosomes 1, 2, 3, 4, 5, 6, 11, 13, 14, 15, 17, 19, and 20 have been reported. Among a few recurrent aberrations, are abnormalities of chromosome 5 (trisomy 5, 5q13) and chromosome 14 (add (14)(q32) and del (14)(q)).61-63 Overexpression of cyclin D1, found in about 50-75% of HCL cases, is not associated with genomic rearrangement of 11q13/BCL1.64

Mutated VH gene status in HCL cells suggests that HCL originates from an antigen-experienced memory B-cell subset. The mutation pattern and gene usage resemble that for reactive marginal zone (MZ) B cells, particularly their mutated subset, and MALT-type MZL.6065

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