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Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with
Ja Hye Kim1, Yena Lee1, Soojin Hwang1
1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Purpose:
Multiple endocrine neoplasia types 1 (MEN1) and 2 (MEN2) are inherited endocrine tumor syndromes caused by mutations in the MEN1 or RET genes. This study aimed to investigate clinical outcomes and molecular characteristics among children with MEN.
Methods:
This study included eight patients from seven unrelated families. Data on clinical course, biochemical findings, and radiologic studies were collected by retrospective chart review. All diagnoses were genetically confirmed by Sanger sequencing of MEN1 in three MEN1 patients and RET in four patients with MEN2A and one patient with MEN2B.
Results:
Three patients with MEN1 from two families presented with hypoglycemia at a mean age of 11±2.6 years. Four patients with MEN2A were genetically diagnosed at a mean of 3.0±2.2 years of age by family screening; one of them was prenatally diagnosed by chorionic villus sampling. Three patients with MEN2A underwent prophylactic thyroidectomy from 5 to 6 years of age, whereas one patient refused surgery. The patient with MEN2B presented with a tongue neuroma and medullary thyroid carcinoma at 6 years of age. Subsequently, he underwent a subtotal colectomy because of bowel perforation and submucosal ganglioneuromatosis at 18 years of age.
Conclusion:
This study described the relatively long clinical course of pediatric MEN with a mean follow-up duration of 7.5±3.8 years. Insulinoma was the first manifestation in children with MEN1. Early diagnosis by family screening during the asymptomatic period enabled early intervention. The patient with MEN2B exhibited the most aggressive clinical course.
Insights
Pediatric Multiple Endocrine Neoplasia (MEN) involves inherited endocrine tumor syndromes. Early diagnosis through family screening allows timely intervention for better clinical outcomes in children with MEN1 and MEN2.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Oncology
Background:
- Multiple Endocrine Neoplasia (MEN) types 1 and 2 are inherited endocrine tumor syndromes.
- These syndromes result from mutations in the MEN1 or RET genes, respectively.
- Understanding pediatric MEN is crucial for early diagnosis and management.
Purpose of the Study:
- To investigate the clinical outcomes and molecular characteristics of children diagnosed with MEN.
- To analyze the presentation and progression of MEN1 and MEN2 in pediatric patients.
- To highlight the importance of genetic diagnosis and family screening in managing pediatric MEN.
Main Methods:
- Retrospective chart review of eight patients from seven unrelated families.
- Data collection included clinical course, biochemical findings, and radiologic studies.
- Genetic confirmation via Sanger sequencing for MEN1 and RET gene mutations.
Main Results:
- Three MEN1 patients presented with hypoglycemia; insulinoma was the initial manifestation.
- Four MEN2A patients were diagnosed via family screening, with one prenatal diagnosis.
- One MEN2B patient showed aggressive disease with tongue neuroma and medullary thyroid carcinoma.
Conclusions:
- Pediatric MEN has a significant clinical course, with a mean follow-up of 7.5 years.
- Early diagnosis via family screening facilitates early intervention, improving outcomes.
- MEN2B demonstrated the most aggressive clinical presentation in this cohort.
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