KIAA1509是一种与t(5;14)(q33;q32)相关的对伊马替尼敏感的骨髓增殖性疾病中的新型血小板衍生生长因子受体β（PDGFRB）融合伴侣。

KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32).

作者信息

Levine R L, Wadleigh M, Sternberg D W, Wlodarska I, Galinsky I, Stone R M, DeAngelo D J, Gilliland D Gary, Cools J

机构信息

Division of Hematology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

出版信息

Leukemia. 2005 Jan;19(1):27-30. doi: 10.1038/sj.leu.2403548.

DOI:10.1038/sj.leu.2403548

PMID:15496975

Abstract

We report the cloning of a novel PDGFRB fusion gene partner in a patient with a chronic myeloproliferative disorder characterized by t(5;14)(q33;q32), who responded to treatment with imatinib mesylate. Fluorescence in situ hybridization demonstrated that PDGFRB was involved in the translocation. Long distance inversion PCR identified KIAA1509 as the PDGFRB fusion partner. KIAA1509 is an uncharacterized gene with a predicted coiled-coil oligomerization domain with homology to the HOOK family of proteins. The predicted KIAA1509-PDGFRbeta fusion protein contains the KIAA1509 coiled-coil domain fused to the cytoplasmic domain of PDGFRbeta that includes the tyrosine kinase domain. Imatinib therapy resulted in rapid normalization of the patient's blood counts, and subsequent bone marrow biopsies and karyotypic analysis were consistent with sustained complete remission.

摘要

我们报告了1例以t(5;14)(q33;q32)为特征的慢性骨髓增殖性疾病患者中一种新型血小板衍生生长因子受体β（PDGFRB）融合基因伙伴的克隆，该患者对甲磺酸伊马替尼治疗有反应。荧光原位杂交显示PDGFRB参与了易位。长距离反向PCR鉴定出KIAA1509为PDGFRB融合伙伴。KIAA1509是一个未被描述的基因，具有一个预测的卷曲螺旋寡聚化结构域，与HOOK蛋白家族具有同源性。预测的KIAA1509-PDGFRβ融合蛋白包含与PDGFRβ胞质结构域融合的KIAA1509卷曲螺旋结构域，该胞质结构域包括酪氨酸激酶结构域。伊马替尼治疗使患者的血细胞计数迅速恢复正常，随后的骨髓活检和核型分析与持续完全缓解一致。