ESPE2023 Rapid Free Communications Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders (6 abstracts)
Insulinoma in childhood: A multicenter retrospective study of 28 patients
Maria Melikyan 1,2,3 , Diliara Gubaeva 4,3 , Anna Shadrina 3 , Anna Bolmasova 3 , Maria Kareva 3 , Anatoly Tiulpakov 5 , Larisa Gurevich 6 , Artem Efremenkov 7 , Julia Averyanova 8 , Kirstine Andersen 9,10,11 , Klaus Brusgaard 9,10,11 , Sonke Detlefsen 9 & Henrik Christesen 9,10,11
1Yerevan State Medical University, Yerevan, Armenia. 2Muratsan University Hospital, Yerevan, Armenia. 3Institute of Pediatric Endocrinology, Moscow, Russian Federation. 4Alder Hey Children’s Hospital, Liverpool, United Kingdom. 5Research Centre for Medical Genetics, Moscow, Russian Federation. 6Moscow Regional Research Clinical Institute, Moscow, Russian Federation. 7Central Clinical Hospital, Moscow, Russian Federation. 8Russian Children's Clinical Hospital, Moscow, Russian Federation. 9Odense University Hospital, Odense, Denmark. 10University of Southern Denmark, Odense, Denmark. 11Odense Pancreas Center OPAC and Steno Diabetes Center Odense, Odense, Denmark
Background: Insulinomas are very rare in childhood with sparse knowledge on the clinical aspects and the presence of Multiple Endocrine Neoplasia type 1 (MEN1).
Methods: We conducted a multicentre retrospective review of patients diagnosed with insulinoma between 1995-2021. Clinical, biochemical, genetic, imaging and histological data were collected. In addition, follow-up and family data were obtained.
Results: A total of 28 children (female, n=17) aged 5-16 years were identified. The median (range) gap between the first hypoglycaemia symptoms and diagnosis was 12 (1-46) months. Thirteen children (46.4%) were misdiagnosed to have epilepsy and were treated with anticonvulsants before hypoglycemia was revealed. Contrast enhanced MRI and/or CT were accurate to localize the lesion in 78.5% (n=22). Additionally endoscopic ultrasound (n=4), 18FDOPA PET/CT (n=1) and DOTA PET/CT (n=1) were needed to visualize the tumor. Six patients (21.4%) had multiple pancreatic lesions. All children underwent surgical treatment. The median (range) diameter of removed tumors was 1.5 (0.3-6) cm. Histopathological studies confirmed the presence of insulinoma in all cases. Immunohistochemical studies revealed G2 differentiation grade in 13 out of 21 cases. One patient had G3 grade. Two patients were diagnosed with metastatic insulinoma. One of them had metastases at the time of insulinoma diagnosis, while the other was diagnosed with liver metastases eight years after the surgery. Eleven children (39%) were found to carry MEN1 mutations (inherited n=6, de novo n=2, no data n=3). Children with MEN1 had significantly higher number of pancreatic tumors compared to sporadic cases. Ten out of 11 developed additional MEN1 symptoms during the following 2-13 years. In the six patients with inherited MEN1, seven family members had hitherto undiscovered MEN1 manifestations.
Conclusion: In this large cohort of children with rare pediatric insulinomas, MEN1 syndrome and G2 tumors were frequent, as well as hitherto undiscovered MEN1 manifestations in family members. Our data emphasize the need of genetic testing in all children with insulinoma and their relatives, even in the absence of any other features, as well as the importance of a prolonged follow-up observation.
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