Endocrine Abstracts

Introduction: Pheochromocytoma, papillary thyroid carcinoma and primary hyperparathyroidism have been reported rarely together. Whether the association is coincidental or results from an underlying unique genetic process is difficult to ascertain.

Case description: We report a case of a 59-year-old woman without a family history who had a personal history of multinodular goiter known for the ten last years and pheochromocytoma diagnosed and operated in 2008. In 2015 thyroid scintigraphy reveals a cold nodule in the left lobe. Fine needle aspiration shows benign follicular lesion. Calcitonin and thyroid function were normal. In addition, blood tests revealed hypercalcemia secondary to primary hyperparathyroidism. Due to tracheal compression seen on a neck CT-Scan, she underwent total thyroidectomy and intraoperative parathyroid exploration. Pathological examination showed bilateral papillary carcinoma in follicular presentation with vascular invasion and parathyroid gland hyperplasia. Tumor cells were negative for calcitonin and CEA. The patient was screened for germline variants for several candidate genes: RET (exons 8, 10, 11, 13, 14, 15 and 16), VHL, SDHB, SDHC, SDHD, SDHA. This search did not show any mutation. The genetic study by “Next Generation Sequencing” searching for 50 genes linked to cancer was performed in the thyroid tumour. There was a mutation in the HRAS gene (mutation pG13R in exon 2).

Conclusions: This is the rare reported case of the unusual combination of pheochromocytoma, bilateral papillary thyroid carcinoma and primary hyperparathyroidism with parathyroid gland hyperplasia. The genetic abnormality of this rare association needs further studies but may lie in the HRAS gene although a coincidental association cannot be excluded.

Keywords: pheochromocytoma, primary hyperparathyroidism and papillary thyroid carcinoma