A rare germline mutation c.2752 A>G (p.M918V) in the RET protooncogene in a patient with medullary and papillary thyroid carcinomas in cervical lymph node metastases: a case report and review of the literature

Abstract

We report a rare germline RET mutation c.2752 AG (p.M918V) found in a 62-year-old man with synchronous medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC) (follicular variant) in cervical lymph node metastases with significant predominance of MTC. DNA sequencing of six exons (10, 11, 13–16) of the RET protooncogene from peripheral blood leucocytes was performed to exclude hereditary MTC in our patient. Postoperative CT was 20 pg/ml (N = 2–6 pg/ml). Pheochromocytoma and hyperparathyroidism were excluded. Genetic analysis of first-degree relatives showed that one of them, the healthy eldest son (37 y.o.), was a carrier of rare ATGGTG heterozygous mutation at position c.2752 of the protooncogene RET. A 96-year-old mother of the patient and his younger son have not this mutation. The proband`s father was not available. The mutation was not revealed in 100 unrelated normal individuals. The clinical history is presented.

Keywords

• thyroid
• medullary carcinoma
• papillary carcinoma
• concurrent (associated) cancer
• germline mutation
• protooncogene ret