Barraco Daniela, Carobolante Francesca, Candoni Anna, Simeone Erica, Piccaluga Pierpaolo, Tabanelli Valentina, Fanin Renato
Division of Haematology and Bone Marrow Transplantation, Azienda Ospedaliero Universitaria SM Misericordia, University of Udine, Udine, Italy.
Eur J Haematol. 2014 Jun;92(6):541-5. doi: 10.1111/ejh.12272. Epub 2014 Feb 19.
Myeloproliferative neoplasms associated with FIP1L1-PDGFR rearrangements represent a rare subset of myeloid and lymphoid malignancies, characterised by the presence of eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 genes. The fusion product of such genes is a tyrosine kinase oncoprotein sensitive to imatinib, which to date results to be the standard of care for FIP1L1-PDGFRA-positive chronic myeloproliferative disorders with eosinophilia. However, the coexistence of FIP1L1-PDGFRA rearrangement associated with acute myeloid leukaemia is extremely rare. Here, we report a rare case of FIP1L1-PDGFRA-positive acute myeloid leukaemia, with marked peripheral blood and bone marrow eosinophilia, treated with low dose of imatinib monotherapy, achieving a rapid and long-lasting complete cytologic and molecular remission, without need for intensive chemotherapy.
与FIP1L1-PDGFR重排相关的骨髓增殖性肿瘤是髓系和淋巴系恶性肿瘤中的一个罕见子集，其特征为嗜酸性粒细胞增多以及PDGFRA、PDGFRB或FGFR1基因异常。此类基因的融合产物是一种对伊马替尼敏感的酪氨酸激酶癌蛋白，迄今为止，伊马替尼仍是FIP1L1-PDGFRA阳性伴嗜酸性粒细胞增多的慢性骨髓增殖性疾病的标准治疗药物。然而，FIP1L1-PDGFRA重排与急性髓系白血病并存的情况极为罕见。在此，我们报告1例FIP1L1-PDGFRA阳性急性髓系白血病的罕见病例，该患者外周血和骨髓有明显嗜酸性粒细胞增多，采用低剂量伊马替尼单药治疗，实现了快速且持久的完全细胞学和分子学缓解，无需进行强化化疗。
