STK11 mutation in Peutz-Jeghers syndrome and its relationship with cumulative risk of intussusception / 中华消化杂志

ABSTRACT

Objective:To analyze the relationship between STK11 mutation and the cumulative risk of intussusception in patients with Peutz-Jeghers syndrome (PJS). Methods:From December 2017 to June 2019, the clinical data of 167 patients with PJS in Air Force Medical Center were collected, including gender, age, family history, age of first intussusception and results of gene test. Kaplan-Meier was used to analyze the cumulative risk of intussusception in patients with different mutation types. Wilcoxon rank sum test and log-rank test were used for statistical analysis.Results:Among 167 patients, 89.8% patients (150/167) had S TK11 mutation, and 50.7% of the mutation sites were found in exons 1, exon 4 and exon 5. And 70.6% patients (118/167) developed intussusception. The median age of patients with intussusception for the first time was 15 years (ranged from 2 to 52 years). Among 118 PJS patients with intussusception, 53 patients had family history and 65 patients had no family history; 70 cases were male and 48 cases were female. There were no statistically significant differences in the cumulative risk of intussusception between PJS patients with and without family history, and between male and female PJS patients (both P>0.05). There were 107 cases (90.7%) with STK11 mutation ( STK11 mutation group) and 11 cases (9.3%) without STK11 mutation ( STK11 non-mutation group). The median age of first intussusception of STK11 gene mutation group was younger than that of STK11 non-mutation group, and the difference was statistically significant ( Z=-2.108, P=0.035). In STK11 mutation group, 29 cases (27.1%) were nonsense mutations (nonsense mutation group), 23 cases (21.5%) were frameshift mutations (frameshift mutation group), 21 cases (19.6%) were missense mutations (missense mutation group), 26 cases (24.3%) were splicing mutations (splicing mutation group) and 8 cases (7.5%) of other mutations. There were statistically significant differences in the cumulative risk of intussusception between the STK11 mutation group and the STK11 non-mutation group, the STK11 splicing mutation group and the STK11 non-mutation group, STK11 missense mutation group and the STK11 non-mutation group ( χ2=5.570, 10.167 and 6.653, all P<0.05). There were no statistically significant differences in the cumulative risk of intussusception between STK11 nonsense mutation group and STK11 non-mutation group, between STK11 frame-shift mutation group and STK11 non-mutation group, among groups with different mutation types of STK11 gene (all P>0.05). Conclusions:The younger the age of first intussusception in PJS patients with STK11 mutation, the higher the cumulative risk. The mutation type of STK11 gene has potential value for the risk assessment of intussusception in PJS patients.