1 - Paediatric Endocrinology Unit, Hospital de Dona Estefânia, Central Lisbon University and Hospital Centre, Lisbon, Portugal.
2 - Paediatric Service, Leiria Hospital Centre, Leiria, Portugal
- Congresso internacional
- Apresentação como poster
Resumo:
Background: Multiple Endocrine Neoplasia type 1 (MEN-1) is a rare and underdiagnosed syndrome caused by inactivating mutations of the tumor suppressor gene MEN-1 that predisposes to multiple tumors classically situated in the anterior Pituitary, Parathyroid, and Pancreas. The mutation is transmitted in an autosomal dominant way, and for this reason, the screening of all first-degree relatives is mandatory after identifying an index case.
Case Report: We describe a three-generation family with MEN-1 diagnosis.
Index Case: 71-year-old men with neuroendocrine pancreatic tumor and parathyroid hyperplasia. The classic combination of pancreas and parathyroid (2P’s) led to the clinical suspicion of MEN1 syndrome. Genetic testing was then performed, and a germinal mutation in exon 8 of MEN-1 gene was detected: c1087G>T(p.Glu363STOP). He was submitted to subtotal parathyroidectomy and pancreatectomy, followed by adequate substitution therapy. The same mutation was found in his asymptomatic 35-year-old son. His analytical and imaging screening also detected parathyroid hyperplasia and a neuroendocrine pancreatic tumor, for which he was submitted to the same treatment. Screening in his grandchildren identified the mutation in two asymptomatic 16 and 12-years old males. The oldest one already has primary hyperparathyroidism with parathyroid hyperplasia and also a solid nodular pancreatic lesion. He is now waiting for surgical removal. Until now, the youngest boy does not present any analytic or imaging abnormalities.
Discussion: Identifying grandfather’s MEN-1 mutation allowed its detection in 3 younger asymptomatic relatives. This allowed periodic screenings and timely therapeutic interventions to reduce morbidity and mortality associated with this syndrome. According to international guidelines, clinical, analytical and imaging screening should start at 5 years old, with a frequency of every 3-5 years.