Yanagiya Ryo, Ishikawa Daisuke, Toubai Tomomi, Ichikawa Tsubasa, Kawaguchi Naofumi, Sugasawa Kunie, Ishizawa Kenichi, Saito Soichi
Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology (3rd Internal Medicine), Faculty of Medicine, Yamagata University, Yamagata, Japan.
Department of Internal Medicine, Nihonkai General Hospital, Sakata, Japan.
Case Rep Oncol. 2020 Aug 27;13(2):1020-1025. doi: 10.1159/000509642. eCollection 2020 May-Aug.
Although tyrosine kinase inhibitors markedly improve the clinical outcome of chronic myeloid leukemia (CML), blast crisis in CML (CML-BC) still has a poor prognosis. Many chromosomal abnormalities have been reported in CML-BC and may contribute to therapeutic resistance, disease progression, and prognosis. Herein, we report a rare chromosome abnormality with der(16)t(1;16)(q12;q11.2) in CML-BC. It has been demonstrated that this chromosomal abnormality is associated with disease progression and poor prognosis in other malignancies, such as Ewing sarcoma. A 70-year-old man with CML who had been treated with imatinib and dasatinib was admitted to our hospital after complaining for several weeks of fatigue and dyspnea and diagnosed with CML-BC. His tumor cells presented additional chromosomal abnormality with der(16)t(1;16)(q12;q11.2), which has never been reported in CML cases. We successfully treated him using cytotoxic agents combined with ponatinib, and this chromosome abnormality was detected via G-banding. Our patient has lived for over 8 months without any progression with ponatinib treatment alone. Although the biological function of this chromosomal abnormality remains unclear, the satellite DNA of 1q12, which induces genomic instability in other malignancies, and the loss of 16q may contribute to the disease progression of CML in this case. In conclusion, this paper is the first to report on the case of CML-BC with der(16)t(1;16)(q12;q11.2).
尽管酪氨酸激酶抑制剂显著改善了慢性髓性白血病（CML）的临床结局，但CML急变期（CML-BC）的预后仍然很差。CML-BC中已报道了许多染色体异常，这些异常可能导致治疗耐药、疾病进展和预后不良。在此，我们报告1例CML-BC中罕见的染色体异常，即der(16)t(1;16)(q12;q11.2)。已证明这种染色体异常与其他恶性肿瘤（如尤因肉瘤）的疾病进展和预后不良有关。1名70岁的CML男性患者，曾接受伊马替尼和达沙替尼治疗，在诉说数周疲劳和呼吸困难后入院，被诊断为CML-BC。他的肿瘤细胞呈现额外的染色体异常der(16)t(1;16)(q12;q11.2)，这在CML病例中从未有过报道。我们使用细胞毒性药物联合波纳替尼成功治疗了他，并通过G显带检测到这种染色体异常。我们的患者仅接受波纳替尼治疗已存活超过8个月且无任何进展。尽管这种染色体异常的生物学功能尚不清楚，但在其他恶性肿瘤中诱导基因组不稳定的1q12卫星DNA以及16q的缺失可能在该病例中导致CML的疾病进展。总之，本文首次报道了1例伴有der(16)t(1;16)(q12;q11.2)的CML-BC病例。
