伴t(14;18)(q32;q21)的慢性淋巴细胞白血病八例报告并文献复习

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. CONCLUSION: 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.