Li J, Zhang H R, Qiu H, Yang R, Guo Y, Miao H Y, Zhu L, Wang L, Fan W, Xu J Y
Department of Hematology, Jiangsu Province Hospital, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
Zhonghua Xue Ye Xue Za Zhi. 2021 Jul 14;42(7):577-582. doi: 10.3760/cma.j.issn.0253-2727.2021.07.008.
The study aimed to analyze the clinical features and prognosis of chronic lymphocytic leukemia (CLL) with t (14;18) (q32;q21) and conduct a literature review. The clinical data of 8 patients with CLL carrying t (14;18) (q32;q21) seen in Jiangsu Province Hospital from November 2009 to November 2019 were collected and analyzed. Among the 8 cases, 7 were male and 1 was female. The median age at diagnosis was 70 years old. The immunophenotype score was 5 in 3 patients. 4 patients were scored 4 and the remaining one scored 3. The bone marrow histopathology showed the typical manifestation of CLL. Karyotype analysis showed that all the cases carried t (14;18) (q32;q21) in the stemline. The t (14;18) (q32;q21) showed as the sole abnormality in 3 cases, with +12 in 4, and with 13q- in 1 case. 13q- was found in another 3 patients by FISH. Immunoglobulin heavy chain gene (IGHV) mutation status was detected in 6 cases and all of them were mutated. None of them used IGHV3-21. Only 1 case harbored TP53 mutation and no TP53, SF3B1, NOTCH1, or MYD88 mutations were found in the remaining cases who underwent the relevant tests. At a median follow-up of 30.9 months, 1 case died. The remaining 7 cases survived and 3 of them have not reached the treatment indication. 4 patients who received chemotherapy or immunotherapy were stable. The t (14;18) (q32;q21) is rare in CLL and often accompanied by +12 and mutated IGHV. CLL with t (14; 18) (q32; q21) tends to have a good prognosis.
本研究旨在分析伴有t(14;18)(q32;q21)的慢性淋巴细胞白血病（CLL）的临床特征及预后，并进行文献复习。收集并分析了2009年11月至2019年11月期间在江苏省人民医院就诊的8例伴有t(14;18)(q32;q21)的CLL患者的临床资料。8例患者中，男性7例，女性1例。诊断时的中位年龄为70岁。3例患者的免疫表型评分为5分。4例患者评分为4分，其余1例评分为3分。骨髓组织病理学显示为CLL的典型表现。核型分析显示所有病例的主干细胞均携带t(14;18)(q32;q21)。t(14;18)(q32;q21)在3例中表现为唯一异常，4例伴有+12，1例伴有13q-。通过荧光原位杂交（FISH）在另外3例患者中发现了13q-。检测了6例患者的免疫球蛋白重链基因（IGHV）突变状态，均为突变型。均未使用IGHV3-21。仅1例存在TP53突变，其余进行相关检测的病例未发现TP53、SF3B1、NOTCH1或MYD88突变。中位随访30.9个月时，1例死亡。其余7例存活，其中3例未达到治疗指征。4例接受化疗或免疫治疗的患者病情稳定。t(14;18)(q32;q21)在CLL中罕见，常伴有+12和IGHV突变。伴有t(14;18)(q32;q21)的CLL预后往往良好。
