Liu Chunshui, Hu Ruiping, Du Zhonghua, Abecasis Manuel, Wang Cong
Department of Hematology, The First Hospital of Jilin University, Changchun, Jilin, China.
Department of Hematology, Instituto Português de Oncologia de Francisco Gentil, Lisbon, Portugal.
Medicine (Baltimore). 2020 Jan;99(5):e18811. doi: 10.1097/MD.0000000000018811.
Concurrent calreticulin (CALR) mutation and BCR-ABL1 fusion are extremely rare in chronic myelogenous leukemia; to date, only 12 cases have been reported.
A 57-year-old male who had an 11-year history of essential thrombocytosis presented to our hospital with leukocytosis and marked splenomegaly for 3 months.
Chronic myelogenous leukemia with myeloid fibrosis arising on the background of essential thrombocytosis harboring both BCR-ABL1 fusion and type-1 like CALR mutation.
Imatinib was started at 300 mg daily and increased to 400 mg daily after 3 months; interferon was added after 12 months.
Partial cytogenetic response was achieved after 3 months of imatinib therapy and complete cytogenetic response was achieved after 1 year of treatment. However, CALR mutation was still present with a stable mutational allele burden.
In this case report and review of additional 12 cases with simultaneous presence of CALR-mutation and BCR-ABL1 fusion, we highlighted the importance of integrating clinical, morphological, and molecular genetic data for classifying atypical myeloid neoplasms.
在慢性髓性白血病中，钙网蛋白（CALR）突变与BCR-ABL1融合同时存在极为罕见；迄今为止，仅报道过12例。
一名57岁男性，有11年原发性血小板增多症病史，因白细胞增多和明显脾肿大3个月前来我院就诊。
原发性血小板增多症背景下发生的慢性髓性白血病伴骨髓纤维化，同时存在BCR-ABL1融合和1型CALR突变。
开始使用伊马替尼，每日300毫克，3个月后增至每日400毫克；12个月后加用干扰素。
伊马替尼治疗3个月后获得部分细胞遗传学反应，治疗1年后获得完全细胞遗传学反应。然而，CALR突变仍然存在，突变等位基因负担稳定。
在本病例报告及对另外12例同时存在CALR突变和BCR-ABL1融合病例的回顾中，我们强调了整合临床、形态学和分子遗传学数据对非典型髓系肿瘤分类的重要性。
