Clinical Characteristics and Prognosis of Adult Acute Myeloid Leukemia with NUP98 Gene Rearrangement / 中国实验血液学杂志

OBJECTIVE@#To investigate the clinical characteristics, outcomes and prognosis of adult acute myeloid leukemia (AML) patients with NUP98 gene rearrangement.@*METHODS@#The clinical data of adult AML patients with NUP98 gene rearrangement from January 2015 to December 2019 were retrospectively analyzed, including clinical characteristics, laboratory examination, genetic anomaly, treatment strategy and survival.@*RESULTS@#A total of 15 patients with NUP98 gene rearrangement were detected in 410 adult AML patients (3.7%). The ratio of male to female among 15 patients was 1.1∶1, and the median age was 43 (17-76) years old. The main FAB types were M2 and M4/M5, and including one unclassified. According to the genetic prognosis, 11 cases were intermediate risk, while 4 cases were high risk. The main type of NUP98 gene rearrangement was NUP98-HOXA9 (13/15, 86.7%). 10 patients underwent next generation sequencing, in which 5 patients showed epigenetic gene mutations, 3 patients showed FLT3-ITD or WT1 mutations, and 2 patients showed no mutation. After induction therapy, 13 of 15 patients achieved complete remission（CR）. 7 of 8 patients with standard induction therapy achieved CR. 7 elder or intolerance patients with demethylation drug and chemotherapy all achieved CR. The median follow-up time was 28 months. The median OS of 15 the patients was 31.5 months (95% CI 10.7%-52.2%), and the median OS of the patients in non-allogeneic hematopoietic stem cell transplantation (Allo-HSCT) group was 18.5 months (95% CI 17.8%-19.1%). The median OS was not reached for the patients in the Allo-HSCT group.@*CONCLUSION@#Allo-HSCT can significantly improve the prognosis of AML patients with NUP98 rearrangement. NUP98 rearrangement can be accompanied by epigenetic gene mutations. For the elderly or patients who do not tolerate standard induction therapy, demethylation drugs combined with chemotherapy can achieve good outcomes.

Prognosis and Genetic Characteristics of Patients with Plasma Cell Leukemia / 中国实验血液学杂志

OBJECTIVE@#To evaluate the clinical characteristics, genetic abnormalities, treatment efficacy and prognostic factors in patients with plasma cell leukemia(PCL).@*METHODS@#30 patients diagnosed as PCL in our hospital from January 1993 to December 2019 were enrolled, and the clinical characteristics, laboratory findings, therapeutic regimes, and survival data of the patients were retrospectively analyzed.@*RESULTS@#The median age of the 30 patients was 56.5 (28-80) years old, among them, 25 patients were primary plasma cell leukemia, and 5 patients were secondary plasma cell leukemia. Complex karyotypes and subdiploids were most common in cytogenetic abnormalities. Among the 20 cases of chromosome G banding, 11 (55%) cases were complex karyotypes and 8 (40%) cases were hypodiploid. Fluorescent in situ hybridization (FISH) test showed that among 11 cases, 6 cases showed 17p13 deletion, 8 cases showed at least two kinds of abnormalities, which including t (14; 16), t (8; 14), t (11;14), 17p13 deletion, and 13q14 deletion. The median overall survival (OS) time was 10.5 months for all patients. The median OS time of the patients in ECOG score ≤ 2 group was 21.5 months, which was significantly longer than those in the ECOG score>2 group(1.2 months) (P=0.017). The median OS time of the patients treated with novel agents (including proteasome inhibitor and/or immunomodulator) was 24.9 months, which was significantly longer than the patients treated with traditional chemotherapy group(10.5 months) (P＜0.001). For the patients treated with novel agents, the median OS time of patients accepted two novel agents combination was 30.9 months, which was longer than those of single novel agent(11.5 months) (P=0.021). The effect of genetic abnormolity to the OS of the patients showed no statistical difference. Multivariate statistical analysis showed that ECOG score>2 was the independent prognostic factor of plasma cell leukemia patients. There were two patients underwent allogeneic hematopoietic stem cell transplantation in the study,but died due to the pulmonary infection within 6 months after transplantation.@*CONCLUSION@#In the era of novel agents, ECOG score is an independent prognostic factor of plasma cell leukemia. Multiple novel agents treatment should be underwent as soon as possible to improve the prognosis of the patients. Pulmonary infection is a common factor that cause the death of the patients after allogeneic hematopoietic stem cell transplantation.