Hilal Talal, Fauble Veena, Ketterling Rhett P, Kelemen Katalin
Division of Hematology and Medical Oncology, Mayo Clinic Hospital, Phoenix, Arizona.
Division of Hematology and Medical Oncology, Mayo Clinic Hospital, Phoenix, Arizona.
Cancer Genet. 2018 Jan;220:13-18. doi: 10.1016/j.cancergen.2017.10.004. Epub 2017 Oct 23.
Myeloid neoplasms with eosinophilia associated with PDGFRA rearrangement are very responsive to tyrosine kinase inhibitors (TKIs). Herein, we report a case of a 53-year-old man with eosinophilia and a well-differentiated extramedullary myeloid tumor with evidence of FIP1L1/PDGFRA rearrangement by fluorescent in situ hybridization in the extramedullary tissue. His bone marrow evaluation revealed a hypercellular marrow with eosinophilia but without evidence of a FIP1L1/PDGFRA rearrangement. The patient was treated with imatinib at a dose of 100 mg daily and responded with normalization of his peripheral eosinophil count. The case raises the possibility that an extramedullary myeloid tumor may represent a primary site for PDGFRA rearrangement, and highlights the importance of performing cytogenetic testing on extramedullary tissue. Detection of the chromosomal rearrangement is critical for initiation of effective targeted therapy that can improve patient outcomes.
伴有血小板衍生生长因子受体A（PDGFRA）重排的嗜酸性粒细胞增多性髓系肿瘤对酪氨酸激酶抑制剂（TKIs）非常敏感。在此，我们报告一例53岁男性患者，该患者有嗜酸性粒细胞增多症，并且存在一个高分化的髓外髓系肿瘤，通过荧光原位杂交在髓外组织中检测到FIP1L1/PDGFRA重排。他的骨髓评估显示骨髓细胞增多伴嗜酸性粒细胞增多，但未发现FIP1L1/PDGFRA重排的证据。该患者接受了每日100毫克的伊马替尼治疗，外周血嗜酸性粒细胞计数恢复正常。该病例提示髓外髓系肿瘤可能是PDGFRA重排的原发部位，并强调了对髓外组织进行细胞遗传学检测的重要性。检测染色体重排对于启动可改善患者预后的有效靶向治疗至关重要。
