Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis

Rapid identification of diverse fusion genes with involvement of PDGFRA or PDGFRB in eosinophilia-associated myeloproliferative neoplasms is essential for adequate clinical management but is complicated by the multitude and heterogeneity of partner genes and breakpoints. We established a generic qua...

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Bibliographic Details
Published in:Haematologica (Roma) 2010-05, Vol.95 (5), p.738-744
Main Authors: ERBEN, Philipp, GOSENCA, Darko, HAFERLACH, Claudia, CROSS, Nicholas C. P, HOCHHAUS, Andreas, REITER, Andreas, MÜLLER, Martin C, REINHARD, Jelena, SCORE, Joannah, DEL VALLE, Francesco, WALZ, Christoph, MIX, Jürgen, METZGEROTH, Georgia, ERNST, Thomas
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Aged, 80 and over
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Cells, Cultured
Child
Child, Preschool
Eosinophilia - diagnosis
Eosinophilia - genetics
Female
Genetic Testing - methods
Hematologic and hematopoietic diseases
HL-60 Cells
Humans
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical sciences
Middle Aged
Molecular Sequence Data
Myeloproliferative Disorders - diagnosis
Myeloproliferative Disorders - genetics
Oncogene Proteins, Fusion - genetics
Original
Receptor, Platelet-Derived Growth Factor alpha - genetics
Receptor, Platelet-Derived Growth Factor beta - genetics
Reverse Transcriptase Polymerase Chain Reaction - methods
Young Adult
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Summary:Rapid identification of diverse fusion genes with involvement of PDGFRA or PDGFRB in eosinophilia-associated myeloproliferative neoplasms is essential for adequate clinical management but is complicated by the multitude and heterogeneity of partner genes and breakpoints. We established a generic quantitative reverse transcriptase polymerase chain reaction to detect overexpression of the 3'-regions of PDGFRA or PDGFRB as a possible indicator of an underlying fusion. At diagnosis, all patients with known fusion genes involving PDGFRA (n=5; 51 patients) or PDGFRB (n=5; 7 patients) showed significantly increased normalized expression levels compared to 191 patients with fusion gene-negative eosinophilia or healthy individuals (PDGFRA/ABL: 0.73 versus 0.0066 versus 0.0064, P
ISSN:0390-6078
1592-8721
DOI:10.3324/haematol.2009.016345