Division of Hematology and Medical Oncology, Department of Internal Medicine, Soonchunhyang University Seoul Hospital, Seoul, Korea.
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Seoul, Korea.
Cancer Res Treat. 2020 Jul;52(3):987-991. doi: 10.4143/crt.2019.703. Epub 2020 Jan 15.
Myeloproliferative neoplasms (MPNs) are classified as chronic myeloid leukemia (CML) and Philadelphia chromosome-negative MPN. In MPN cases, the presence of a BCR-ABL1 translocation with a coexisting mutation is exceptionally rare. Herein, we report the first documented patient with CML harboring CALR mutation in Korea. A 33-year-old woman was referred to our hospital in February 2015 with splenomegaly, leukocytosis, and thrombocytosis. She was diagnosed with CML and started receiving nilotinib. In October 2015, a major molecular response was observed, but thrombocytosis persisted. A repeat bone marrow (BM) examination revealed no specific findings. However, as thrombocytosis worsened, we changed nilotinib to dasatinib. In May 2019, owing to persistent thrombocytosis, we repeated the BM examination and found CALR mutation (15.97%) on the MPN-next generation sequencing (NGS) test. We then retrospectively performed repeat MPN-NGS testing using the BM aspirate sample obtained in 2015 and found CALR mutation (10.64%).
骨髓增殖性肿瘤（MPN）分为慢性髓系白血病（CML）和费城染色体阴性 MPN。在 MPN 病例中，BCR-ABL1 易位伴共存突变的存在极为罕见。在此，我们报告了首例在韩国发现的伴有 CALR 突变的 CML 患者。一名 33 岁女性因脾肿大、白细胞增多和血小板增多于 2015 年 2 月被转至我院。她被诊断为 CML，并开始接受尼洛替尼治疗。2015 年 10 月，观察到主要分子反应，但血小板增多持续存在。重复骨髓（BM）检查未发现特定发现。然而，随着血小板增多恶化，我们将尼洛替尼换为达沙替尼。2019 年 5 月，由于持续的血小板增多，我们再次进行 BM 检查，并在 MPN 下一代测序（NGS）检测中发现 CALR 突变（15.97%）。然后，我们回顾性地使用 2015 年获得的 BM 抽吸样本进行重复的 MPN-NGS 检测，发现 CALR 突变（10.64%）。
