Extramedullary molecular evidence of the 5'KIAA1509/3'PDGFRB fusion gene in chronic eosinophilic leukemia.
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.
Albano
Francesco
F
Hematology, University of Bari, Policlinico, Piazza G. Cesare 11, 70124 Bari, Italy. f.albano@ematba.uniba.it
Anelli
Luisa
L
Zagaria
Antonella
A
Lonoce
Angelo
A
La Starza
Roberta
R
Liso
Vincenzo
V
Rocchi
Mariano
M
Specchia
Giorgina
G
D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001483:Base Sequence; D001549:Benzamides; D002908:Chronic Disease; D005260:Female; D050939:Gene Fusion; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D000068877:Imatinib Mesylate; D008969:Molecular Sequence Data; D010879:Piperazines / Q000627:therapeutic use; D020574:Proto-Oncogene Proteins c-sis / Q000235:genetics*; D011743:Pyrimidines / Q000627:therapeutic use; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D020574:Proto-Oncogene Proteins c-sis; D011743:Pyrimidines; D000068877:Imatinib Mesylate