处于持久无治疗缓解期的Ph阳性慢性髓性白血病患者中的CALR阳性骨髓增殖性疾病：一例报告
CALR-positive myeloproliferative disorder in a patient with Ph-positive chronic myeloid leukemia in durable treatment-free remission: a case report.
作者信息
Dogliotti Irene, Fava Carmen, Serra Anna, Gottardi Enrico, Daraio Filomena, Carnuccio Francesca, Giugliano Emilia, Bocchia Monica, Saglio Giuseppe, Rege-Cambrin Giovanna
机构信息
Department of Clinical and Biological Science, University of Turin, Turin, Italy.
Department of Hematology, University of Siena, Siena, Italy.
出版信息
Stem Cell Investig. 2017 Jun 23;4:57. doi: 10.21037/sci.2017.06.02. eCollection 2017.
Current diagnostic criteria for Philadelphia-negative myeloproliferative neoplasia (MPN) have been redefined by the discovery of Janus kinase 2 (JAK2), myeloproliferative leukemia (MPL) and calreticulin (CALR) genetic alterations. Only few cases of coexistence of CALR-mutated MPN and Philadelphia-positive chronic myeloid leukemia (CML) have been described so far. Here we report the case of a patient with CML diagnosed in 2001, treated with imatinib and pegylated interferon (IFN) frontline. She reached complete molecular remission (CMR) and discontinued imatinib, maintaining treatment free remission. Due to persistent thrombocytosis, we repeated bone marrow (BM) analysis and diagnosed CARL-mutated essential thrombocythemia (ET). A CALR-positive clone was found to be present since 2001, and was unaffected by imatinib treatment, possibly representing a molecular abnormality arising at stem cell level.
随着Janus激酶2（JAK2）、骨髓增殖性白血病（MPL）和钙网蛋白（CALR）基因改变的发现，费城染色体阴性骨髓增殖性肿瘤（MPN）的当前诊断标准已被重新定义。迄今为止，仅有少数CALR突变的MPN与费城染色体阳性慢性髓性白血病（CML）共存的病例被报道。在此，我们报告一例2001年诊断为CML的患者，一线接受伊马替尼和聚乙二醇化干扰素（IFN）治疗。她达到了完全分子缓解（CMR）并停用伊马替尼，维持无治疗缓解状态。由于持续性血小板增多，我们再次进行骨髓（BM）分析，并诊断为CALR突变的原发性血小板增多症（ET）。发现自2001年起就存在CALR阳性克隆，且不受伊马替尼治疗的影响，这可能代表了干细胞水平出现的分子异常。
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