Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2)
✍ Scribed by Christoph Walz; Claudia Haferlach; Annette Hänel; Georgia Metzgeroth; Philipp Erben; Darko Gosenca; Andreas Hochhaus; Nicholas C. P. Cross; Prof. Andreas Reiter
- Book ID
- 102221505
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 193 KB
- Volume
- 48
- Category
- Article
- ISSN
- 1045-2257
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✦ Synopsis
Abstract
Chromosomal aberrations of 5q31‐33 associated with rearrangements of the platelet‐derived growth factor receptor beta (PDGFRB) gene are rare but recurrent in patients with eosinophilia‐associated atypical myeloproliferative neoplasms (Eos‐MPNs). We used a DNA‐based “long‐distance inverse PCR” (LDI‐PCR) to identify a new MYO18A‐PDGFRB fusion gene in an Eos‐MPN with associated t(5;17)(q33‐34;q11.2). MYO18A is the fourth partner gene after BCR, ETV6 and SPTBN1 that fuses to more than one tyrosine kinase gene. Treatment with imatinib (400 mg/day) led to rapid and sustained complete hematologic, cytogenetic and molecular remission. Patients with PDGFRB fusions genes are excellent candidates for treatment with imatinib; complete cytogenetic and even molecular remissions are common while primary or secondary resistance seems to be very rare. © 2008 Wiley‐Liss, Inc.