BMSEHA15
Published online 27 January 2010
(Haematologica 2010, 10.3324/haematol.2009.016345)
Copyright © 2010 by Ferrata Storti Foundation
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Article

Screening for diverse PDGFRA or PDGFRB by fusion genes is facilitated by generic quantitative RT-PCR

Philipp Erben1, Darko Gosenca1, Martin C. Müller1, Jelena Reinhard1, Joannah Score2, Francesco del Valle4, Christoph Walz1, Jürgen Mix1, Georgia Metzgeroth1, Thomas Ernst1,2, Claudia Haferlach3, Nicholas C.P. Cross2, Andreas Hochhaus1, Andreas Reiter1

1 III. Medizinische Klinik, Universitätsmedizin Mannheim, Mannheim, Germany
2 Wessex Regional Genetics Laboratory, Salisbury & Human Genetics Division, University of Southampton, U.K
3 Münchner Leukämie Labor (MLL), München, Germany
4 Klinikum Oldenburg, Germany

Correspondence: Andreas Reiter, III. Medizinische Klinik, Universitätsmedizin Mannheim, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim. Phone: international + 49.621.3834158. Fax: international + 49.621.3831911. E-mail: andreas.reiter{at}umm.de

ABSTRACT

Backround: Rapid identification of diverse fusion genes with involvement of PDGFRA or PDGFRB in eosinophilia-associated myeloproliferative neoplasms (Eos-MPN) is essential for adequate clinical management but is complicated by the multitude and heterogeneity of partner genes and breakpoints. Design and Methods. We established generic quantitative RT-PCR assays (RQ-PCR) to detect overexpression of 3'-regions of PDGFRA or PDGFRB as a possible indicator of an underlying fusion.

Results: 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 vs. 0.0066 vs. 0.0064, p<0.0001; PDGFRB/ABL: 196 vs. 3.8 vs. 5.85, p<0.0001). Sensitivity and specificity of the activation screening test is 100% and 88.4% for PDGFRA and 100% and 94% for PDGFRB, respectively. Furthermore, significant overexpression of PDGFRB was found in an Eos-MPN patient with uninformative cytogenetics and excellent response to imatinib. Subsequently, a new SART3-PDGFRB fusion gene was identified by 5'-RACE-PCR.

Conclusion: RQ-PCR is a simple and useful adjunct standard diagnostic assays to detect clinically significant overexpression of PDGFRA and PDGFRB in Eos-MPNs or related disorders.

Key words: MPN, PDGFRA, PDGFRB, RQ-PCR.


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B. J. Bain
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1
Haematologica, May 1, 2010; 95(5): 696 - 698.
[Full Text] [PDF]