The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma

Journal of biosciences

Rong-Xin Zhang3¹  Xiao-Ping Qi1 2²  Zhen-Guang Chen²  Hang-Yang Jin²  Ren-Rong Yang²  Jin-Lin Cao² 

[1] Department of Neck and Thoracic Oncologic Surgery, Anhui Provincial Cancer Hospital, Anhui Medical University, No. 107 Huan-hu East Road, Hefei 230031, China$$;Department of Oncologic and Urologic Surgery, the 117th PLA Hospital, Anhui Medical University, 40 Jichang Road, Hangzhou, Zhejiang Province, 310004, China$$

关键词: Familial medullary thyroid carcinoma;    MEN 2;    polymorphism;    RET mutation;   

DOI  :  

来源: Indian Academy of Sciences

【 摘 要 】

We report intracellular RET mutation in a Han Chinese pedigree with familial medullary thyroid carcinoma (FMTC). Direct sequencing of RET proto-oncogene identified a missense c.2671T > G (p.S891A) mutation in 6 of 14 family members. The single nucleotide polymorphisms c. 135A > G (p.A45A), IVS4+48A >G, c. 1296A > G (p.A432A), c. 2071G > A (p.G691S), c. 2307T > G (p.L769L) and a variant c. 833C > A (p.T278N) were also found in 6 carriers. Among 5 of the 6 carriers presented medullary thyroid carcinoma (MTC) as an isolated clinical phenotype, with elevated basal serum calcitonin (Ct). Two underwent non-normative thyroidectomy either two or four times without physician awareness or diagnosis of this disease at initial treatment, but with elevated Ct. One with elevated pre-Ct accepted total thyroidectomy (TT) with modified bilateral neck dissection (MBiND), and whose seventh posterior rib MTC metastases was confirmed 5 months after surgery. Moreover, results of two affected individuals with elevated Ct were reduced to normal after TT with MBiND or prophylactic VI compartmental dissection. However, only another carrier with the variant p.T278N had slightly elevated Ct rejected surgery and was strictly monitored. Given these case results, we suggest that screening of RET and pre-surgical Ct levels in the management of MTC patients is essential for earlier diagnosis and more normative initial treatment, that FMTC patients with cervical lymph nodes metastases may be cured by TT with MBiND, and that prophylactic VI compartmental dissection should be avoided when Ct levels are low.

【 授权许可】

Unknown