title: Multicolour spectral karyotyping identifies new translocations and a recurring pathway for chromosome loss in multiple myeloma.
abstract: Multicolour spectral karyotyping (SKY) was performed on primary tumour specimens from 100 patients with multiple myeloma (MM) that showed complex clonal chromosome aberrations not fully characterized by G-banding. In this study, SKY was able to identify or revise translocations with breakpoints involving 14q32, 11q13 or 8q24 in 32 patients (32%). Five new recurring translocations were identified, two of which involved chromosome 22. A subtle reciprocal translocation t(14;22) (q32;q11 approximately 12) was identified using SKY in two patients and a second, much larger, translocation t(11;22)(q13;q13) was identified using G-banding in three patients. A third new translocation was identified in two patients using SKY and G-banding as der(7)t(7;7)(p15 approximately 22;q22 approximately 32). Twenty-three patients (23%) showed the loss of 8p by whole-arm translocations with different whole-arm donor chromosomes. Among this group, two new recurring whole-arm translocations involving the centromeric breakpoint 8q10 were identified as der(8;20)(q10;q10) and der(8;18) (q10;q10) in three patients each. In addition, a novel pattern of three-way translocations involving the clonal evolution of the t(8;22)(q24;q11) by the subsequent loss of 8p by whole-arm translocations was found in three patients. The chromosome instability identified here demonstrates that the loss of 8p can occur by multiple whole-arm translocations, indicating a new pathway for the loss of a specific chromosome region in MM.
authors.affiliation: Myeloma and Transplantation Research Center, Arkansas Cancer Research Center, University of Arkansas for Medical Sciences, Little Rock, AR, USA. sawyerjeffreyr@exchange.uams.edu
authors.forename: J R
authors.initials: JR
authors.lastname: Sawyer
authors.forename: J L
authors.initials: JL
authors.lastname: Lukacs
authors.forename: E L
authors.initials: EL
authors.lastname: Thomas
authors.forename: C M
authors.initials: CM
authors.lastname: Swanson
authors.forename: L S
authors.initials: LS
authors.lastname: Goosen
authors.forename: G
authors.initials: G
authors.lastname: Sammartino
authors.forename: J C
authors.initials: JC
authors.lastname: Gilliland
authors.forename: N C
authors.initials: NC
authors.lastname: Munshi
authors.forename: G
authors.initials: G
authors.lastname: Tricot
authors.forename: J D
authors.initials: JD
authors.lastname: Shaughnessy
authors.forename: B
authors.initials: B
authors.lastname: Barlogie
mesh_terms: D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002885:Chromosomes, Human, Pair 16; D002892:Chromosomes, Human, Pair 22; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D007621:Karyotyping / Q000379:methods; D009101:Multiple Myeloma / Q000235:genetics*; D014178:Translocation, Genetic