Walz Christoph, Haferlach Claudia, Hänel Annette, Metzgeroth Georgia, Erben Philipp, Gosenca Darko, Hochhaus Andreas, Cross Nicholas C P, Reiter Andreas
III. Medizinische Klinik, Universitätsmedizin Mannheim, Germany.
Genes Chromosomes Cancer. 2009 Feb;48(2):179-83. doi: 10.1002/gcc.20629.
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.
与血小板衍生生长因子受体β（PDGFRB）基因重排相关的5q31 - 33染色体畸变在嗜酸性粒细胞增多相关的非典型骨髓增殖性肿瘤（Eos - MPN）患者中罕见但反复出现。我们使用基于DNA的“长距离反向PCR”（LDI - PCR）在一名伴有t(5;17)(q33 - 34;q11.2)的Eos - MPN中鉴定出一种新的MYO18A - PDGFRB融合基因。MYO18A是继BCR、ETV6和SPTBN1之后第四个与多个酪氨酸激酶基因融合的伙伴基因。伊马替尼（400毫克/天）治疗导致快速且持续的完全血液学、细胞遗传学和分子缓解。携带PDGFRB融合基因的患者是伊马替尼治疗的极佳候选者；完全细胞遗传学甚至分子缓解很常见，而原发性或继发性耐药似乎非常罕见。
