Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1 in three patients with eosinophilia‐associated myeloproliferative neoplasms. Issue 12 (10th September 2015)

• Record Type: Journal Article
• Authors: Naumann, Nicole; Schwaab, Juliana; Metzgeroth, Georgia; Jawhar, Mohamad; Haferlach, Claudia; Göhring, Gudrun; Schlegelberger, Brigitte; Dietz, Christian T.; Schnittger, Susanne; Lotfi, Sina; Gärtner, Michael; Dang, Tu‐Anh; Hofmann, Wolf‐Karsten; Cross, Nicholas C. P.; Reiter, Andreas; Fabarius, Alice
• Is Part Of: Genes, chromosomes & cancer. Volume 54:Issue 12(2015:Dec.)
• Page Start: 762
• Page End: 770
• Publication Date: 2015-09-10
• Subjects: Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.22287
• Languages: English
• ISSNs: 1045-2257

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>In eosinophilia‐associated myeloproliferative neoplasms (MPN‐eo), constitutive activation of protein tyrosine kinases (TK) as consequence of translocations, inversions, or insertions and creation of TK fusion genes is recurrently observed. The most commonly involved TK and their potential TK inhibitors include <italic>PDGFRA</italic> at 4q12 or <italic>PDGFRB</italic> at 5q33 (imatinib), <italic>FGFR1</italic> at 8p11 (ponatinib), and <italic>JAK2</italic> at 9p24 (ruxolitinib). We here report the identification of three new <italic>PDGFRB</italic> fusion genes in three male MPN‐eo patients: <italic>MPRIP</italic>‐<italic>PDGFRB</italic> in a case with t(5;17)(q33;p11), <italic>CPSF6</italic>‐<italic>PDGFRB</italic> in a case with t(5;12)(q33;q15), and <italic>GOLGB1‐PDGFRB</italic> in a case with t(3;5)(q13;q33). The fusion proteins identified by 5′‐rapid amplification of cDNA ends polymerase chain reaction (PCR) or DNA‐based long distance inverse PCR are predicted to contain the TK domain of PDGFRB. The partner genes contain domains like coiled‐coil structures, which are likely to cause dimerization and activation of the TK. In all patients, imatinib induced rapid and durable complete remissions. © 2015 Wiley Periodicals, Inc.</p> </abstract>