来那度胺使一名患有伴有环形铁粒幼细胞和血小板增多症的骨髓增生异常综合征/骨髓增殖性肿瘤及相关5q-综合征的患者获得持久缓解。
Lenalidomide induced durable remission in a patient with MDS/MPN-with ring sideroblasts and thrombocytosis with associated 5q- syndrome.
作者信息
Alshaban Ahmed, Padilla Osvaldo, Philipovskiy Alexander, Corral Javier, McAlice Meghan, Gaur Sumit
机构信息
Department of Medicine, Texas Tech University Health Sciences Center Paul L. Foster School of Medicine, El Paso, TX, USA.
Department of Pathology, Texas Tech University Health Sciences Center Paul L. Foster School of Medicine, El Paso, TX, USA.
出版信息
Leuk Res Rep. 2018 Aug 24;10:37-40. doi: 10.1016/j.lrr.2018.08.001. eCollection 2018.
We describe a patient with MDS/MPN with ring sideroblasts and thrombocytosis who had deletions of long arm of chromosome 5 (5q-) and chromosome 20 (20q-). Molecular studies showed an exon 9, frame shift mutation in the calreticulin (CALR) gene, and absence of mutations in JAK2, MPL, SETBP1 or SF3B1. Treatment with lenalidomide resulted in durable clinical remission which has lasted 2 years.
我们描述了一名患有伴有环形铁粒幼细胞和血小板增多症的骨髓增生异常综合征/骨髓增殖性肿瘤（MDS/MPN）患者，其存在5号染色体长臂缺失（5q-）和20号染色体缺失（20q-）。分子研究显示钙网蛋白（CALR）基因外显子9发生移码突变，而JAK2、MPL、SETBP1或SF3B1未发生突变。来那度胺治疗导致持久的临床缓解，持续时间已达2年。
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