Objective: 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. Methods: 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. Results: 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. Conclusions: 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.
目的： 分析伴t（14;18）（q32;q21）的慢性淋巴细胞白血病（CLL）患者的临床特征及预后，并进行相关文献复习。 方法： 收集并分析2009年11月至2019年11月于江苏省人民医院就诊的8例伴t（14;18）（q32;q21）的CLL患者的临床资料。 结果： 8例患者中7例男性，1例女性，诊断时中位年龄70岁，3例免疫表型积分5分，4例积分4分，1例积分3分。所有患者的骨髓组织病理学均为典型CLL表现。染色体核型示所有患者的t（14;18）（q32;q21）均为干系，3例仅携带t（14;18）（q32;q21）异常，4例为t（14;18）（q32;q21）伴+12，1例为t（14;18）（q32;q21）伴13q-。通过FISH在另外3例患者中发现了13q-。6例检测了免疫球蛋白重链可变区（IGHV）突变状态且均为有突变，未见IGHV3-21片段使用。进行相关检测的患者中，仅1例携带TP53突变，其余患者未见TP53、SF3B1、NOTCH1、MYD88突变。中位随访30.9个月时，1例死亡，7例存活，其中3例尚未达到治疗指征，4例接受化疗或免疫治疗的患者病情均稳定。 结论： t（14;18）（q32;q21）在CLL中少见，往往与+12、有突变的IGHV伴随出现。伴t（14;18）（q32;q21）的CLL可能预后良好。.
Keywords: Clinical features; Leukemia, lymphocytic, chronic; Prognosis; t (14;18) (q32;q21).