Endocrine Abstracts

Background: Medullary thyroid carcinoma (MTC) is a rare thyroid neoplasm with a high degree of malignancy derived from the parafollicular calcitonin-secreting cells. This carcinoma may occur sporadically in about 80% of cases or it may be part of the autosomal dominant multiple endocrine neoplasia (MEN) type 2. While the 10-year survival rate is around 40–75%, for metastatic disease, it’s just below 20%.

Case presentation: We report the case of a 60-year-old female patient diagnosed with sporadic MTC with a somatic RET mutation Cys608Arg at the age of 27. After diagnosis, she underwent multiple surgical interventions, from total thyroidectomy to radical neck disection and re-interventions for loco-regional metastasis excision. In the evolution of the disease, bone, kidney, liver and ganglia metastasis appeared. Zoledronic acid was administered in high doses with the intention to contain the bone metastasis but maxillary osteomyelitis developed, with severe pain that seriously affected her quality of life. Her current calcitonin levels have been stationary through the 6 years in which she has been under our care, at about 20 000 pg/ml. She has been under treatment with somatostatin analogues, with Octreotide LAR 40 mg/28 days for about 8 years with the slow progression of the metastatic disease over time. Her current quality of life is satisfactory, with no subjective complaints.

Conclusions: We described the case of a 60-year-old female with advanced metastatic medullary thyroid carcinoma with a survival of over 30 years, with a good subjective quality of life.