PDF(Pubmed)
Abstract：
Myeloproliferative neoplasms (MPNs) are subdivided into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) and Ph-negative MPNs. BCR::ABL1 translocation is essential for the development and diagnosis of CML; on the other hand, the majority of Ph-negative MPNs are characterized by generally mutually exclusive mutations of Janus kinase 2 (JAK2), calreticulin (CALR), or thrombopoietin receptor/myeloproliferative leukemia (MPL). CALR mutations have been described essentially in JAK2 and MPL wild-type essential thrombocythemia and primary myelofibrosis. Rarely coexisting CALR and MPL mutations have been found in Ph-negative MPNs. BCR::ABL1 translocation and JAK2 mutations were initially considered mutually exclusive genomic events, but a discrete number of cases with the combination of these genetic alterations have been reported. The presence of BCR::ABL1 translocation with a coexisting CALR mutation is even more uncommon. Herein, starting from a routinely diagnosed case of CALR-mutated primary myelofibrosis subsequently acquiring BCR::ABL1 translocation, we performed a comprehensive review of the literature, discussing the clinicopathologic and molecular features, as well as the outcome and treatment of cases with BCR::ABL1 and CALR co-occurrence.
摘要：
骨髓增殖性肿瘤（MPN）分为费城（Ph）染色体阳性慢性粒细胞白血病（CML）和Ph阴性MPN。BCR::ABL1易位对于CML的发展和诊断至关重要；另一方面，大多数Ph阴性MPNs的特征是Janus激酶2（JAK2）的通常相互排斥的突变，钙网蛋白(CALR),或血小板生成素受体/骨髓增殖性白血病（MPL）。CALR突变基本上在JAK2和MPL野生型原发性血小板增多症和原发性骨髓纤维化中被描述。在Ph阴性MPN中很少发现CALR和MPL突变共存。BCR::ABL1易位和JAK2突变最初被认为是互斥的基因组事件，但是已经报道了一些与这些遗传改变相结合的离散病例。具有共存CALR突变的BCR::ABL1易位的存在甚至更不常见。在这里，从常规诊断的CALR突变的原发性骨髓纤维化病例开始，随后获得BCR::ABL1易位，我们对文献进行了全面的回顾，讨论临床病理和分子特征，以及BCR::ABL1和CALR合并症的结果和治疗。
