Department of Pathology, University of Arizona, Tucson, AZ USA.
Department of Pathology, University of Arizona, Tucson, AZ USA.
Cancer Genet. 2021 Apr;252-253:111-114. doi: 10.1016/j.cancergen.2021.01.006. Epub 2021 Jan 19.
Clonal cytogenic evolution with the development of additional chromosomal abnormalities (ACAs) in chronic myelogenous leukemia (CML) is a marker for disease progression and is known to impact therapy and survival. The presence of ACAs has been shown to affect the responses to tyrosine kinase inhibitors (TKI) in patients with newly diagnosed CML in accelerated phase (CML-AP). We report a rare case of a CML patient who presented in CML-AP and was found to have multiple ACAs including monosomy 7, deletion 7p, trisomy 8, and an extra Philadelphia chromosome (Ph) in separate Ph-positive cell line, respectively. Six months after combined chemotherapy with TKI, the patient achieved a major cytogenetic response with disappearance of monosomy 7/deletion 7p with no major molecular response.
慢性髓性白血病（CML）中克隆细胞遗传学演变伴随额外染色体异常（ACA）的出现是疾病进展的标志，已知会影响治疗和生存。ACA 的存在已被证明会影响新诊断的加速期 CML（CML-AP）患者对酪氨酸激酶抑制剂（TKI）的反应。我们报告了一例罕见的 CML 患者，该患者表现为 CML-AP，并且在分别为单独的 Ph 阳性细胞系中发现了多个 ACA，包括单体 7、7p 缺失、三体 8 和额外的费城染色体（Ph）。在联合 TKI 化疗 6 个月后，患者获得了主要细胞遗传学反应，单体 7/7p 缺失消失，但无主要分子反应。
