The first case of elderly TCF3-HLF-positive B-cell acute lymphoblastic leukemia.
The first case of elderly TCF3-HLF-positive B-cell acute lymphoblastic leukemia.
复制标题
第一例老年TCF3-HLF阳性B细胞急性淋巴细胞白血病。
DOI：
10.1080/10428194.2019.1602267
复制
发表时间：
2019
期刊：
影响因子：
--
通讯作者：
and Tojo A.
中科院分区：
文献类型：
--
作者：
Takeda R;Yokoyama K (corresponding author);Ogawa M;Kawamata T;Tomofusa F;Kondoh K;Tomomi T;Nakamura S;Ito M;Yusa N;Shimizu E;Ohno N;Uchimaru K;Yamaguchi R;Imoto S;Miyano S;and Tojo A.
19 p13上的TCF 3（也称为E2 A）编码B细胞发育转录因子[1]，17 q22上的HLF基因编码造血干细胞中高度表达的转录因子[2]。融合基因TCF 3-HLF是由染色体易位t（17; 19）（q22; p13）形成的，并且在B细胞急性淋巴细胞白血病（B-ALL）的罕见亚型中发现。TCF 3-HLF的表达导致转录重编程朝向不成熟状态，作为白血病前细胞的初始事件[1]。携带TCF 3-HLF阳性B-ALL的患者通常在初次诊断后2年内死亡或复发，5年无事件生存率估计为0%[1，2]。TCF 3-HLF阳性B-ALL常伴有弥散性血管内凝血（DIC）和高钙血症[1，3]。到目前为止，仅报告了TCF 3-HLF阳性B-ALL的儿科病例。在这里，我们提出了一个老年人的情况下，B-ALL与t（17; 19）（q22; p13），这是难治性多线化疗。RNA测序分析显示与L-天冬酰胺酶和糖皮质激素治疗抗性相关的基因失调。据我们所知，这是第一例TCF 3-HLF阳性的成人B-ALL患者。一名67岁的男性，主诉持续发热和全身乏力，被转诊到我院。外周血检查显示，白色血细胞（WBC）计数升高至9.2 x 109/L，27.5%髓过氧化物酶阴性原始细胞。还观察到贫血（血红蛋白，9.2 g/dL）和血小板减少症（血小板，43 × 109/L）。乳酸脱氢酶升高至正常上限的约4倍。的
TCF3 (also known as E2A) on 19p13 encodes a B cell developmental transcription factor [1], and the HLF gene on 17q22 encodes a transcription factor highly expressed in hematopoietic stem cells [2]. The fusion gene TCF3-HLF is formed by the chromosomal translocation t (17; 19)(q22; p13) and is found in a rare subtype of B cell acute lymphoblastic leukemia (B-ALL). Expression of TCF3-HLF leads to transcriptional reprograming toward an immature state as an initial event of pre-leukemic cells [1]. Patients harboring TCF3-HLF-positive B-ALL typically die or relapse within two years from the initial diagnosis, and five-year event-free survival is estimated to 0%[1, 2]. TCF3-HLF-positive B-ALL is frequently accompanied by disseminated intravascular coagulation (DIC) and hypercalcemia [1, 3]. Until now, only pediatric cases of TCF3-HLF-positive B-ALL have been reported. Here, we present an elderly case of B-ALL with t (17; 19)(q22; p13), which was refractory to multiple lines of chemotherapy. RNA sequencing analysis revealed dysregulation of genes related with treatment resistance to L-asparaginase and glucocorticoids. To the best of our knowledge, this is the first case of TCF3-HLF-positive B-ALL developing in an adult patient.A 67-year-old man, who complained of persistent fever and general fatigue, was referred to our hospital. Peripheral blood examination showed that white blood cell (WBC) count was elevated to 9.2 x 109/L, with 27.5% myeloperoxidase-negative blasts. Anemia (hemoglobin, 9.2 g/dL) and thrombocytopenia (platelets, 43x109/L) were also observed. Lactate dehydrogenase was elevated to approximately four times the upper normal limit. The