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Phenotypic presentation of MEN1 c.758delC (p.Ser253Cysfs *28) pathogenic variant: a case report
Antonio Mancini1, Paola Concolino2, Edoardo Vergani1
1Operative Unit of Internal Medicine, Endocrinology and Diabetology, Department of Translational medicine and surgery, Fondazione Policlinico Universitario "Agostino Gemelli", Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Largo Agostino Gemelli, 8, 00168, Rome, Italy.
Abstract:
MEN1 is a rare syndrome caused by mutations in the MEN1 gene. We describe a clinical case of MEN1 syndrome associated with a recently discovered pathogenic mutation of MEN1 gene. A 32-year-old man with a history of osteopenia, nephrolithiasis, hypercalcemia and hypophosphatemia, impaired fasting glucose, and asthenia was admitted to our outpatient unit. Primary hyperparathyroidism, sustained by three hyperplastic parathyroid glands, was diagnosed. Prolactin- and GH-secreting adenomas were ruled out. After undergoing subtotal parathyroidectomy, the patient was diagnosed with non-functioning pituitary adenoma, three pancreatic lesions, and Cushing syndrome sustained by left adrenal adenoma. The patient underwent left adrenal surgery; somatostatin analogue lanreotide was started for the pancreatic lesions; the pituitary adenoma, being small and non-secreting, was not treated. A genetic test was performed to confirm the diagnosis of MEN1 syndrome, finding an association with a recently discovered mutation: the (NM_130799.2):c.758delC (p.Ser253Cysfs*28) in exon 4.
Insights
This case study details a patient with Multiple Endocrine Neoplasia type 1 (MEN1) syndrome. The diagnosis was confirmed by a newly identified pathogenic mutation in the MEN1 gene, highlighting genetic advancements in rare disease diagnosis.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary endocrine disorder.
- It is characterized by tumors in the parathyroid, pituitary, and pancreas.
- Mutations in the MEN1 gene are the primary cause of the syndrome.
Observation:
- A 32-year-old male presented with symptoms including osteopenia, nephrolithiasis, hypercalcemia, hypophosphatemia, impaired fasting glucose, and asthenia.
- Initial diagnosis revealed primary hyperparathyroidism due to three hyperplastic parathyroid glands.
- Further investigations identified a non-functioning pituitary adenoma, pancreatic lesions, and Cushing syndrome from a left adrenal adenoma.
Findings:
- The patient underwent subtotal parathyroidectomy and left adrenal surgery.
- Treatment included somatostatin analogue lanreotide for pancreatic lesions.
- Genetic testing confirmed MEN1 syndrome, revealing a novel pathogenic mutation (NM_130799.2):c.758delC (p.Ser253Cysfs*28) in exon 4 of the MEN1 gene.
Implications:
- This case underscores the importance of genetic testing in diagnosing MEN1 syndrome, especially with novel mutations.
- Early identification and comprehensive management are crucial for patients with MEN1.
- The discovery of new mutations expands our understanding of MEN1's genetic landscape and diagnostic capabilities.
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