A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma

Area of Science:

• Endocrinology
• Genetics
• Oncology

Background:

• The patient presented with primary hyperparathyroidism, later developing pituitary adenoma and recurrent hyperparathyroidism.
• Family history revealed the mother died from multiple tumors and the father had multiple osteochondromas.
• Clinical suspicion for multiple endocrine neoplasia type 1 (MEN1) and hereditary multiple osteochondromas prompted genetic analysis.

Purpose of the Study:

• To investigate the genetic basis of co-occurring MEN1 and hereditary multiple osteochondromas in a patient.
• To identify novel mutations in the MEN1 and EXT1 genes.

Main Methods:

• Genetic analysis was performed on the patient to identify mutations in the MEN1 and EXT1 genes.
• Clinical examination and MRI were used to diagnose tumors and assess their impact.

Main Results:

• A novel heterozygote mutation (c.2T>A) in the MEN1 gene was identified, confirming MEN1 diagnosis.
• A novel heterozygotic mutation (c.1418-2A>C) in the EXT1 gene was found, associated with hereditary multiple osteochondromas.
• The patient exhibited symptoms of both MEN1 and hereditary multiple osteochondromas.

Conclusions:

• Novel mutations in the MEN1 and EXT1 genes can cause both MEN1 and hereditary multiple osteochondromas in a single patient.
• Detailed family history is crucial for diagnosing complex genetic syndromes.
• Patients with EXT1 mutations require monitoring for potential osteochondrosarcoma transformation.