慢性髓性白血病急变期p190 BCR/ABL转录本与CALR 52-bp缺失共存：一例报告
Coexistence of p190 BCR/ABL Transcript and CALR 52-bp Deletion in Chronic Myeloid Leukemia Blast Crisis: A Case Report.
作者信息
Seghatoleslami Mohammad, Ketabchi Neda, Ordo Alireza, Asl Javad Mohammadi, Golchin Neda, Saki Najmaldin
机构信息
Health Research Institute, Research Center of Thalassemia and Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
出版信息
Mediterr J Hematol Infect Dis. 2016 Jan 1;8(1):e2016002. doi: 10.4084/MJHID.2016.002. eCollection 2016.
We introduce a 78-year-old woman presented with thrombocytosis and high blast count who had a history of splenectomy. Her cytogenetic analysis revealed aberrant chromosomal rearrangements in different clonal populations harboring 46XX karyotype with t(9;22) (q34;q11). RT-PCR assay detected the e1a2 BCR-ABL translocation resulting from rearrangement of the minor breakpoint cluster region (m-bcr) in BCR gene. Subsequent evaluation of the disease showed calreticulin (CALR) 52-bp deletion as well as the absence of JAK2 (V617F) heterozygous mutation in granulocyte population of peripheral blood using allele-specific PCR and bi-directional DNA sequencing. To our knowledge, this is the first case of a patient initially diagnosed as p190 BCR-ABL transcript positive CML in blast crisis characterized by a 52-bp deletion in CALR gene.
我们介绍一位78岁女性，有脾切除史，出现血小板增多症和高原始细胞计数。她的细胞遗传学分析显示，具有46XX核型伴t(9;22)(q34;q11)的不同克隆群体中存在异常染色体重排。逆转录聚合酶链反应（RT-PCR）检测发现，BCR基因中微小断点簇区域（m-bcr）重排导致e1a2 BCR-ABL易位。对该疾病的后续评估显示，使用等位基因特异性PCR和双向DNA测序，外周血粒细胞群体中存在钙网蛋白（CALR）52碱基对缺失以及JAK2（V617F）杂合突变缺失。据我们所知，这是首例最初被诊断为p190 BCR-ABL转录本阳性、处于急变期且CALR基因有52碱基对缺失的慢性粒细胞白血病患者。
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