一例成人急性淋巴细胞白血病（ALL）中的融合突变，这是一种在ALL中报道过的已知激活突变。
A Case of Fusion Mutation in Adult Acute Lymphoblastic Leukemia (ALL), a Known Activating Mutation Reported in ALL.
作者信息
Mejia Saldarriaga Mateo, Steinberg Amir, Severson Eric A, Binder Adam
机构信息
Albert Einstein College of Medicine/Jacobi Medical Center, The Bronx, NY, United States.
Department of Oncology, Mount Sinai Hospital, New York, NY, United States.
出版信息
Front Oncol. 2019 Dec 3;9:1303. doi: 10.3389/fonc.2019.01303. eCollection 2019.
We report the case of a patient with B-Cell Acute Lymphoblastic Leukemia (ALL) who was found to harbor a gene fusion involving the and genes. Although the mutations have been identified before in other malignancies, and it is thought to represent a driver mutation in these neoplasms, it has yet to be described in ALL. The identification of known fusion genes conferring activating tyrosine kinase activity in neoplasms can suggest potential therapeutic role of tyrosine kinase inhibitors (TKI), an approach that has been exploited in several other fusion genes.
我们报告了一例B细胞急性淋巴细胞白血病（ALL）患者的病例，该患者被发现存在涉及[具体基因1]和[具体基因2]的基因融合。尽管[具体基因1]突变此前已在其他恶性肿瘤中被鉴定出来，并且被认为是这些肿瘤中的驱动突变，但在ALL中尚未有相关描述。在肿瘤中鉴定出已知的赋予激活酪氨酸激酶活性的融合基因，可以提示酪氨酸激酶抑制剂（TKI）的潜在治疗作用，这一方法已在其他几种融合基因中得到应用。
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