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Updated: Dec 24, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Association of asparaginase-associated pancreatitis and ULK2 gene polymorphism
Juxiang Wang1,2, Shengqin Cheng1, Linglong Hu2
1Department of Hematology and Oncology, The Children's Hospital of Soochow University Suzhou, China.
Insights
Asparaginase-associated pancreatitis (AAP) in children presents with abdominal pain and vomiting. ULK2 gene polymorphism may predict AAP risk, warranting further research for early diagnosis and treatment strategies.
Area of Science:
- Pediatric Oncology
- Gastroenterology
- Genetics
Background:
- Asparaginase is a crucial chemotherapeutic agent for childhood leukemia.
- Asparaginase-associated pancreatitis (AAP) is a serious complication.
- Understanding AAP's clinical course and predictive factors is vital for patient management.
Purpose of the Study:
- To analyze clinical characteristics, diagnosis, and therapy of childhood AAP.
- To evaluate ULK2 gene polymorphism as a predictive factor for AAP.
- To improve diagnostic and therapeutic approaches for AAP.
Main Methods:
- Retrospective review of 12 childhood AAP cases.
- Sanger sequencing of the ULK2 gene in AAP patients (n=12) and controls (n=146).
- Analysis of clinical symptoms, laboratory findings, and imaging results.
Main Results:
- Abdominal pain and vomiting were primary symptoms.
- Serum amylase and lipase levels peaked within 72 hours.
- ULK2 gene polymorphisms (EXON1: -493C>T and -308C>G) showed significant differences between AAP and control groups (P<0.0001).
Conclusions:
- Early identification of patients at risk for AAP is crucial.
- Elevated pancreatic enzymes indicate potential complications.
- ULK2 gene polymorphism is a potential predictive factor for AAP, requiring further validation.
Abstract:
The purpose of the study was to analyze the clinical characteristics and the course of diagnosis and therapy of asparaginase-associated pancreatitis (AAP) in childhood, improve the ability of diagnosis and treatment, and evaluate ULK2 gene polymorphism as a predictive factor for AAP. Data of 12 patients with childhood AAP were reviewed. Sanger sequencing of ULK2 gene was performed in AAP group (n=12) and control group (n=146). The main symptoms of AAP were abdominal pain and vomiting. Generally, the levels of amylase and lipase in the serum peaked within 72 h. Abdominal ultrasonography was performed in 11 patients; seven patients exhibited findings of pancreatic enlargement. Computed tomography was performed in 9 patients. Five patients exhibited findings of pancreatic enlargement and peri-pancreatic exudation. All patients were managed by fasting at the early stage, and seven patients underwent placement of a nasojejunal tube to receive enteral nutrition. One patient underwent endoscopic retrograde cholangiopancreatography (revealing dilation of the pancreatic duct) and endoscopic retrograde pancreatic drainage. Another patient developed signs of shock and received continuous renal replacement. There were no deaths caused by AAP. Therefore, early identification of patients at risk of AAP is of great importance. In addition, repeated elevation in the levels of pancreatic enzymes is indicative of complications. Sanger sequencing analysis of ULK2 gene showed that there was a significant difference of EXON1: -493C>T and EXON1: -308C>G between the AAP group and control group (P<0.0001). Thus, ULK2 gene polymorphism may be associated with the development of AAP. However, more validation of this finding is needed.
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