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Chinese Journal of Hematology ; (12): 373-379, 2023.
Article in Chinese | WPRIM | ID: wpr-984632


Objective: To explore the molecular features of chronic myelomonocytic leukemia (CMML) . Methods: According to 2022 World Health Organization (WHO 2022) classification, 113 CMML patients and 840 myelodysplastic syndrome (MDS) patients from March 2016 to October 2021 were reclassified, and the clinical and molecular features of CMML patients were analyzed. Results: Among 113 CMML patients, 23 (20.4%) were re-diagnosed as acute myeloid leukemia (AML), including 18 AML with NPM1 mutation, 3 AML with KMT2A rearrangement, and 2 AML with MECOM rearrangement. The remaining 90 patients met the WHO 2022 CMML criteria. In addition, 19 of 840 (2.3%) MDS patients met the WHO 2022 CMML criteria. At least one gene mutation was detected in 99% of CMML patients, and the median number of mutations was 4. The genes with mutation frequency ≥ 10% were: ASXL1 (48%), NRAS (34%), RUNX1 (33%), TET2 (28%), U2AF1 (23%), SRSF2 (21.1%), SETBP1 (20%), KRAS (17%), CBL (15.6%) and DNMT3A (11%). Paired analysis showed that SRSF2 was frequently co-mutated with ASXL1 (OR=4.129, 95% CI 1.481-11.510, Q=0.007) and TET2 (OR=5.276, 95% CI 1.979-14.065, Q=0.001). SRSF2 and TET2 frequently occurred in elderly (≥60 years) patients with myeloproliferative CMML (MP-CMML). U2AF1 mutations were often mutually exclusive with TET2 (OR=0.174, 95% CI 0.038-0.791, Q=0.024), and were common in younger (<60 years) patients with myelodysplastic CMML (MD-CMML). Compared with patients with absolute monocyte count (AMoC) ≥1×10(9)/L and <1×10(9)/L, the former had a higher median age of onset (60 years old vs 47 years old, P<0.001), white blood cell count (15.9×10(9)/L vs 4.4×10(9)/L, P<0.001), proportion of monocytes (21.5% vs 15%, P=0.001), and hemoglobin level (86 g/L vs 74 g/L, P=0.014). TET2 mutations (P=0.021) and SRSF2 mutations (P=0.011) were more common in patients with AMoC≥1×10(9)/L, whereas U2AF1 mutations (P<0.001) were more common in patients with AMoC<1×10(9)/L. There was no significant difference in the frequency of other gene mutations between the two groups. Conclusion: According to WHO 2022 classification, nearly 20% of CMML patients had AMoC<1×10(9)/L at the time of diagnosis, and MD-CMML and MP-CMML had different molecular features.

Humans , Aged , Middle Aged , Leukemia, Myelomonocytic, Chronic/genetics , Prognosis , Splicing Factor U2AF/genetics , Mutation , Myelodysplastic Syndromes/genetics , Leukemia, Myeloid, Acute/genetics
Tianjin Medical Journal ; (12): 1282-1285, 2017.
Article in Chinese | WPRIM | ID: wpr-665042


Objective To evaluate insulin resistance (IR) in patients with systemic lupus erythematosus (SLE) and investigate the effect of glucocorticoids on IR and its clinical significance. Methods Three hundred and one SLE patients and 103 healthy volunteers hospitalized in our hospital from May 2013 to May 2017 were included in this study. Homeostasis model assessment (HOMA) was used to calculate insulin resistance index (HOMA-IR), HOMA-βcell function index (HBCI) and insulin sensitivity index (ISI). The IR grouping was determined by using the upper 1/4 of the HOMA-IR index of 103 healthy volunteers as the cut point. According to the dose of glucocorticoids in the last 3 months, the SLE group was divided into glucocorticoids>7.5 mg/d group,≤7.5 mg/d group and without glucocorticoids group. These parameters were compared with all groups respectively. Furthermore, related factors for HOMA-IR were analyzed by linear correlation. Results Compared with control group, triacylglycerol (TG, P<0.01), fasting insulin (FINS, P<0.01), HOMA-IR (P<0.01), HOMA-HBCI (P<0.05) were significantly increased and high-density lipoprotein cholesterol (HDL-C, P<0.01) and ISI (P<0.01) were significantly lower in SLE group. However, there were no significant differences in TG, FINS, HOMA-IR and ISI between different doses of glucocorticoid groups (P>0.05). The level of HOMA-HBCI was significantly higher in two groups with glucocorticoids than that without glucocorticoid group and normal control group (P<0.05), while there was no significant difference in HOMA-HBCI between without glucocorticoid group and the normal control group ( P>0.05). HOMA-IR was positively correlated with fasting blood glucose (FBG, r=0.566, P<0.01), FINS (r=0.949, P<0.01) and HOMA-HBCI (r=0.280, P<0.01). But there was a negative correlation between TG (r=-0.139, P<0.01) and ISI (r=-0.896, P<0.01). Conclusion Insulin secretion is abnormal and the incidence of IR is elevated in SLE patients. Long term glucocorticoid therapy may be involved in the formation of IR.