Detection of the <I>FIP1L1-PDGFRA</I> Fusion in Idiopathic Hypereosinophilic Syndrome and Chronic Eosinophilic Leukemia View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2005-11-15

AUTHORS

Iland Harry , Hertzberg Mark , Marlton Paula , Jan Cools , Elizabeth H. Stover , D. Gary Gilliland

ABSTRACT

Idiopathic hypereosinophilic syndrome (HES) and chronic eosinophilic leukemia (CEL) are related hematological malignancies characterized by sustained, unexplained hypereosinophilia (>1,500 eosinophils/μL) (1–4). The term CEL is used when there is evidence that the disease is of clonal origin. We recently identified the FIP1L1-PDGFRA fusion gene in approx 50% of HES/CEL cases (5). Fusion of FIP1L1 to PDGFRA is the consequence of a deletion on chromosome 4, del(4)(q12q12), with the centromeric breakpoint in FIP1L1 and the telomeric breakpoint in PDGFRA. The breakpoints in FIP1L1 are diverse (introns 7 to 10), but the breakpoints in PDGFRA are always in exon 12 (encoding the juxtamembrane region). because the chromosomal deletion is only 800 kb in size, it remains undetected with standard cytogenetics. In agreement with this, most patients with HES/CEL present with a normal karyotype. Here we describe three different techniques to detect the presence of the FIP1L1-PDGFRA fusion gene in peripheral blood or bone marrow cells. More... »

PAGES

177-188

References to SciGraph publications

Book

TITLE

Myeloid Leukemia

ISBN

1-59745-017-0

Identifiers

URI

http://scigraph.springernature.com/pub.10.1385/1-59745-017-0:177

DOI

http://dx.doi.org/10.1385/1-59745-017-0:177

DIMENSIONS

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