der(11)t(11;17): a distinct cytogenetic pathway of advanced stage @entity521 ( XXXX ) - detected by spectral karyotyping (SKY).

@entity1 @entity24965 @entity74 @entity521 @entity4180
Conventional cytogenetic, molecular cytogenic and genetic methods disclosed a broad spectrum of @entity74 leading to gain and loss of chromosomal segments in advanced stage @entity521 ( @entity521 ). Specific correlation between the genetic findings could delineate distinct genetic pathways, of which the biology and prognostic significance is as yet undetermined. Using spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) on metaphases from 16 @entity1 with advanced stage @entity521 , it was possible to explore the whole spectrum of rearrangement within complex karyotypes and to detect hidden recurrent translocations. All translocations were unbalanced. The most prevalent recurrent unbalanced translocations resulted in 17q gain in 12 @entity1 (75%), 11q loss in nine @entity1 (56%), and 1p deletion/imbalance in eight @entity1 (50%). The most frequent recurrent translocation was der(11)t(11;17) in six @entity1 . Three cytogenetic pathways could be delineated. The first, with six @entity1 , was characterized by the unbalanced translocation der(11)t(11;17), detected only by SKY, resulting in the concomitant 17q gain and 11q loss. No @entity4180 amplification or 1p deletion (except one @entity1 with 1p imbalance) were found, while 3p deletion, and complex karyotypes were common. The second subgroup, with four @entity1 , had 17q gain and 1p deletion, and in two @entity1 11q loss, that was apparent only by FISH. 1p deletion occurred through der(1)t(1;17) or @entity24965 ). The third subgroup of four @entity1 was characterized by @entity4180 amplification with 17q gain and 1p deletion, very rarely with 11q loss (one @entity1 ) through a translocation with a non-17q partner. The SKY subclassifications were in accordance with the findings reported by molecular genetic techniques, and may indicate that distinct oncogenes and suppressor genes are involved in the der(11)t(11;17) pathway of advanced stage @entity521 .
