SNX2-ABL1-positive acute lymphoblastic leukemia possibly has a poor prognosis
SNX2-ABL1-positive acute lymphoblastic leukemia possibly has a poor prognosis
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SNX2-ABL1阳性急性淋巴细胞白血病可能预后不良
DOI：
10.1080/10428194.2017.1287357
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发表时间：
2017
影响因子：
2.6
通讯作者：
Ouyang Guifang
中科院分区：
文献类型：
--
作者：
Mu Qitian;Guo Lieping;Hu Yongxian;Sheng Lixia;Zhang Yi;Wu Ningning;Chen Ying;Shi Cong;Shi Songqiu;Wu Ying;Ouyang Guifang
位于9号染色体上的ABL1基因易位至22号染色体上的BCR基因，产生BCR-ABL1融合基因，导致慢性粒细胞白血病（CML）和Ph阳性急性淋巴细胞白血病（ALL）中酪氨酸激酶ABL1的组成型激活[1]。除 BCR 外，在 CML、ALL 和 T 细胞幼淋巴细胞白血病 (T-PLL) 患者中还发现了一些罕见的伙伴基因，如 ETV6、ZMIZ1、NUP214、EML1、SFPQ、RCSD1 和 SEPT9 [2, 3]。 SNX2-ABL1也是一种罕见的融合基因，首次在一名29岁男性B-ALL中发现，其核型为t(5;9)(q23;q34)和2q-[4]。最近描述了另一例 SNX2-ABL1 病例，患者为一名患有 B-ALL 的 9 岁男孩 [5]。自从异基因造血干细胞移植（allo-HSCT）前引入伊马替尼以来，BCR-ABL1阳性ALL的分子遗传学已得到广泛研究，并且该疾病的预后得到显着改善[6]。然而，具有罕见 ABL1 融合基因的 ALL 的分子特征和临床结果尚不清楚。在这里，我们报道了一名患有 SNX2-ABL1 并伴有 IKZF1 缺失和 PAX5 扩增的 B-ALL 患者，该患者出现了不良结局。该研究经宁波市第一医院医学伦理委员会批准。 2013年12月，一名16岁男性因头晕10天住院。体检显示胸骨压痛，轻度肝脾肿大，浅表淋巴结肿大。全血细胞计数显示白细胞 (WBC) 计数为 152.4 × 109/L，淋巴细胞增加 (74%)，血红蛋白为 123g/L，血小板计数为 38 × 109/L。骨髓抽吸物细胞增多，显示 53.5% 的淋巴母细胞、25.0% 的幼淋巴细胞和 16% 的淋巴细胞。原始细胞 CD10、CD19、CD20 和 CD34 呈阳性。核型为46，XY，t(5；9)(q23；q34)[4]/46，XY[6]。实时聚合酶链反应（RT-PCR）显示
ABL1 gene located on chromosome 9 is translocated to BCR gene on chromosome 22, resulting in BCR-ABL1 fusion gene that leads to constitutive activation of tyrosine kinase ABL1 in chronic myeloid leukemia (CML) and Ph-positive acute lymphoblastic leukemia (ALL)[1]. Besides BCR, some rare partner genes, such as ETV6, ZMIZ1, NUP214, EML1, SFPQ, RCSD1, and SEPT9, have been identified in CML, ALL, and T-cell prolymphocytic leukemia (T-PLL) patients [2, 3]. SNX2-ABL1, which is also a rare fusion gene, was first identified in a 29-year-old male with B-ALL whose karyotype was t (5; 9)(q23; q34) and 2q-[4]. Another case with SNX2-ABL1 was recently described in a 9-year-old boy with B-ALL [5]. Molecular genetics of BCR-ABL1-positive ALL has been widely studied and the prognosis of this disease has been dramatically promoted since the introduction of imatinib before allogeneic hematopoietic stem cell transplantation (allo-HSCT)[6]. However, molecular feature and clinical outcome of ALL with rare ABL1 fusion genes are unknown. Here, we reported a B-ALL patient with SNX2-ABL1 accompanied by IKZF1 deletion and PAX5 amplification who had an adverse outcome. The study was approved by Medical Ethical Committee of Ningbo First Hospital.In December 2013, a 16-year-old male was hospitalized due to dizziness for 10 days. The physical examination showed sternal tenderness, mild hepatosplenomegaly, and superficial lymphadenopathy. A complete blood count revealed a white blood cell (WBC) count of 152.4 Â 109/L with increased lymphocytes (74%), hemoglobin of 123g/L, and a platelet count of 38Â 109/L. Bone marrow aspirate was hypercellular, showing 53.5% lymphoblasts, 25.0% prolymphocytes, and 16% lymphocytes. The blasts were positive for CD10, CD19, CD20, and CD34. The karyotype was 46, XY, t (5; 9)(q23; q34)[4]/46, XY [6]. Real-time polymerase chain reaction (RT-PCR) showed