1. Primary hyperparathyroidism- at age 45 parathyroidectomy. 20 years after this initial diagnosis he suffered from recurrent life threatening hypercalcemia which was treated with furosemide, calcimimetics and bisphophonates.
2. Medullary thyroid carcinoma (MTC)- at the age of 58 he developed a thyroid neoplasm for which he was treated by total thyroidectomy. The tu mor cells stained positive for NSE but stains for other neuroendocrine markers, calcitonin and congo red were negative. Blood calcitonin and CEA levels were normal. Despite the negative stainings for MTC markers, on the basis of the histological appearance the tumor was classified as a non-secreting MTC Since the initial diagnosis and surgery of this tumor, he has suffered several recurrences of this disease in the neck and mediastinum for which he was operated several times.
3. Bronchial carcinoid- at the age of 61 he was diagnosed with metastatic bronchial carcinoid, which was treated with surgery followed by brachytherapy. Due to low density of SSTR types 2 and 5 on the tumor and metastasis on repeat somatostatin receptor scanning he was not offered therapy with radiolabelled Somatostatin analogues (PRRT).
4. Adrenal tumors- at the age of 65 bilateral adrenal nonfunctioning masses were diagnosed (3 and 104 cm). Radiologic followed up showed that these masses were growing over time.
Molecular genetic analyses for RET gene mutations at codons 10, 11, 16 were negative as was analysis of the menin gene on chromosome 11. As of now, no other first degree relatives ofthis patient have been diagnosed with an endocrine neoplasia.