Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2)

Christoph Walz; Claudia Haferlach; Annette Hänel; Georgia Metzgeroth; Philipp Erben; Darko Gosenca; Andreas Hochhaus; Nicholas C P Cross; Andreas Reiter

doi:10.1002/gcc.20629

Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2)

Genes Chromosomes Cancer. 2009 Feb;48(2):179-83. doi: 10.1002/gcc.20629.

Authors

Christoph Walz¹, Claudia Haferlach, Annette Hänel, Georgia Metzgeroth, Philipp Erben, Darko Gosenca, Andreas Hochhaus, Nicholas C P Cross, Andreas Reiter

Affiliation

¹ III. Medizinische Klinik, Universitätsmedizin Mannheim, Germany.

PMID: 19006078
DOI: 10.1002/gcc.20629

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Antineoplastic Agents / therapeutic use
Benzamides
Chromosome Painting
Chromosomes, Human, Pair 17 / genetics
Chromosomes, Human, Pair 17 / metabolism
Chromosomes, Human, Pair 5 / genetics
Chromosomes, Human, Pair 5 / metabolism
Eosinophilia / diagnosis
Eosinophilia / drug therapy
Eosinophilia / genetics*
Gene Fusion*
Humans
Imatinib Mesylate
Male
Middle Aged
Mutant Chimeric Proteins / genetics*
Mutant Chimeric Proteins / metabolism
Myelodysplastic-Myeloproliferative Diseases / diagnosis
Myelodysplastic-Myeloproliferative Diseases / drug therapy
Myelodysplastic-Myeloproliferative Diseases / genetics*
Myosins / genetics*
Myosins / metabolism
Piperazines / therapeutic use
Polymerase Chain Reaction
Pyrimidines / therapeutic use
Receptor, Platelet-Derived Growth Factor beta / genetics*
Receptor, Platelet-Derived Growth Factor beta / metabolism
Translocation, Genetic*

Substances

Antineoplastic Agents
Benzamides
MYO18A protein, human
Mutant Chimeric Proteins
Piperazines
Pyrimidines
Imatinib Mesylate
Receptor, Platelet-Derived Growth Factor beta
Myosins