Extramedullary molecular evidence of the 5′KIAA1509/3′PDGFRB fusion gene in chronic eosinophilic leukemia

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• 作者：Francesco Albano ; Luisa Anelli ; Antonella Zagaria ; Angelo Lonoce ; Roberta La Starza ; Vincenzo Liso ; Mariano Rocchi ; Giorgina Specchia
• 关键词：Chronic eosinophilic leukemia ; KIAA1509 ; PDGFRB ; Extramedullary site ; Repetitive DNA
• 刊名：Leukemia Research
• 出版年：2008
• 出版时间：February 2008
• 年：2008
• 卷：32
• 期：2
• 页码：347-351
• 全文大小：565 K

文摘

We report a case of chronic eosinophilic leukemia (CEL), demonstrating for the first time: (i) the association of CEL with the 5′KIAA1509/3′PDGFRB fusion gene as a consequence of a t(5;14)(q33;q32); (ii) the molecular detection of this rearrangement in an extramedullary site; (iii) the cloning and sequencing of the KIAA1509 and PDGFRB genomic breakpoints. The 5′KIAA1509/3′PDGFRB fusion gene is predicted to encode a protein of 2059 amino acids. The genomic breakpoints were localized inside KIAA1509 intron 11 and PDGFRB intron 10. Sequence analysis in correspondence with these breakpoints revealed the presence of repetitive DNA, such Alu elements, which could promote chromosomal rearrangements.