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Identification of a MYO18A‐PDGFRB fusion gene in an eosinophilia‐associated atypical myeloproliferative neoplasm with a t(5;17)(q33‐34;q11.2)
Author(s) -
Walz Christoph,
Haferlach Claudia,
Hänel Annette,
Metzgeroth Georgia,
Erben Philipp,
Gosenca Darko,
Hochhaus Andreas,
Cross Nicholas C. P.,
Reiter Andreas
Publication year - 2009
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20629
Subject(s) - pdgfrb , fusion gene , myeloproliferative neoplasm , imatinib , cancer research , eosinophilia , tyrosine kinase , pdgfra , imatinib mesylate , gene , biology , medicine , immunology , genetics , myelofibrosis , receptor , bone marrow , stromal cell , gist , myeloid leukemia
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.