Objective: To analyze the clinical and laboratory characteristics, and prognosis of adult acute myeloid leukemia (AML) patients with MLL gene rearrangements. Methods: The medical records of 92 adult AML patients with MLL gene rearrangements from January 2010 to December 2016 were retrospectively analyzed. Results: 92 cases (6.5%) with MLL gene rearrangements were identified in 1 417 adult AML (Non-M(3)) patients, the median age of the patients was 35.5 years (15 to 64 years old) with an equal sex ratio, the median WBC were 21.00(0.42-404.76)×10(9)/L, and 78 patients (84.8%) were acute monoblastic leukemia according to FAB classification. Eleven common partner genes were detected in 32 patients, 9 cases (28.1%) were MLL/AF9(+), 5 cases (15.6%) were MLL/AF6(+), 5 cases (15.6%) were MLL/ELL(+), 2 cases (6.3%) were MLL/AF10(+), 1 case (3.1%) was MLL/SETP6(+), and the remaining 10 patients' partner genes weren't identified. Of 92 patients, 83 cases with a median follow-up of 10.3 (0.3-74.0) months were included for the prognosis analysis, the complete remission (CR) rate was 85.5% (71/83), the median overall survival (OS) and relapse free survival (RFS) were 15.4 and 13.1 months, respectively. Two-year OS and RFS were 36.6% and 29.5%, respectively. Of 31 patients underwent allogeneic hematopoietic stem-cell transplantation (allo-HSCT), two-year OS and RFS for patients received and non-received allo-HSCT were 57.9% and 21.4%, 52.7% and 14.9%, respectively (P<0.001). Among patients with partner genes tested, 9 of 32 cases (28.1%) were MLL/AF9(+), the median follow-up was 6.0(4.1-20.7) months. 3 patients with MLL/AF9 underwent allo-HSCT. 23 cases (71.9%) were non- MLL/AF9(+), the median follow-up was 7.8 (0.3-26.6) months. 14 patients (60.1%) with non-MLL/AF9 underwent allo-HSCT. One-year OS for patients with MLL/AF9 and non-MLL/AF9 were 38.1% and 55.5%, respectively (P=0.688). Multivariate analysis revealed that high WBC (RR=1.825, 95% CI 1.022-3.259, P=0.042), one cycle to achieve CR (RR=0.130, 95% CI 0.063-0.267, P<0.001), post-remission treatment with allo-HSCT (RR=0.169, 95% CI 0.079-0.362, P<0.001) were independent prognostic factors affecting OS. Conclusions: AML with MLL gene rearrangements was closely associated with monocytic differentiation, and MLL/AF9 was the most frequent partner gene. Conventional chemotherapy produced a high response rate, but likely to relapse, allo-HSCT may have the potential to further improve the prognosis of this group of patients.
目的： 分析MLL基因重排成人急性髓系白血病（AML）的临床、实验室特征及预后情况。 方法： 回顾性分析2010年1月至2016年12月确诊的92例MLL基因重排成人AML患者的临床和实验室资料。 结果： 1 417例成人AML（不包括急性早幼粒细胞白血病，均采用FISH方法进行了MLL基因重排分析）患者中检出92例（6.5%）MLL基因重排患者，男女性别比为1∶1，诊断时中位年龄为35.5（15~64）岁，中位WBC 21.00（0.42~404.76）×10(9)/L。按FAB分型标准，78例（84.8%）患者属于急性单核细胞白血病。32例患者检测了11种MLL常见伙伴基因，其中MLL/AF9阳性9例（28.1%），MLL/AF6阳性5例（15.6%），MLL/ELL阳性5例（15.6%），MLL/AF10阳性2例（6.3%），MLL/SETP6阳性1例（3.1%），余10例（31.3%）患者的伙伴基因未知。83例患者可进行疗效分析，中位随访时间为10.3（0.3~74.0）个月，完全缓解（CR）率为85.5%，中位总生存（OS）和无复发生存（RFS）时间分别为15.4和13.1个月，2年OS和RFS率分别为36.6%和29.5%。31例患者进行了异基因造血干细胞移植（allo-HSCT），移植患者的2年OS和RFS率分别为57.9%和52.7%，未移植患者分别为21.4%和14.9%，差异均有统计学意义（P值均<0.001）。进行伙伴基因检测的患者中，9例MLL/AF9阳性患者中位随访时间为6.0（4.1~20.7）个月，3例（33.3%）进行了allo-HSCT；23例非MLL/AF9阳性患者中位随访时间为7.8（0.3~26.6）个月，14例（60.1%）进行了allo-HSCT。两组患者的1年OS率分别为38.1%和55.5%，差异无统计学意义（P=0.688）。多因素分析显示起病时WBC（RR=1.825，95% CI 1.022~3.259，P=0.042）、是否1个疗程达CR（RR=0.130，95% CI 0.063~0.267，P<0.001）以及是否移植（RR=0.169，95% CI 0.079~0.362，P<0.001）为影响MLL基因重排AML患者OS的独立预后因素。 结论： MLL基因重排成人AML多见于急性单核细胞白血病，MLL/AF9是最常见的伙伴基因。该类型白血病常规化疗虽然缓解率尚可，但极易复发，allo-HSCT可以改善其预后。.
Keywords: Leukemia, myeloid, acute; MLL rearrangement; Prognosis.