Clinical investigation and ret proto

Xiaojuan Gong; Heping LI; Fengting Wan; Liya Fan; Shu Liu; Xiaoxuan Liu; Yuxin LI; Hui Guo; Yayi HE

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Clinical investigation and ret proto

VernacularTitle:多发性内分泌腺肿瘤综合征临诊应对
Author: Xiaojuan GONG ^{1
,

2} ; Heping LI ¹ ; Fengting WAN ³ ; Liya FAN ¹ ; Shu LIU ¹ ; Xiaoxuan LIU ³ ; Yuxin LI ³ ; Hui GUO ¹ ; Yayi HE ¹
Author Information

1. Department of Endocrinology and Metabolism, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710061
2. College of Medicine and Forensics, Health Science Center of Xi’an Jiaotong University, Xi’an 710061, China
3. College of Medicine and Forensics, Health Science Center of Xi’an Jiaotong University, Xi’an 710061, China
Publication Type:Journal Article
Keywords: multiple endocrine neoplasia type 2A （MEN2A）; RET protooncogene; medullary thyroid carcinoma; gene mutation
From: Journal of Xi'an Jiaotong University(Medical Sciences) 2022;43(4):566-573
CountryChina
Language:Chinese
Abstract: 【Objective】 To investigate the clinical features and gene analysis of one pedigree with multiple endocrine neoplasia type 2A （MEN2A） so as to clarify the diagnosis and classification of the disease， guide treatment and prevention， and improve prognosis. 【Methods】 The clinical data of a 36-member MEN2A family， including 6 probands， with medullary thyroid carcinoma， were investigated， and the peripheral blood genomic DNA of 28 family members （blood sample of one proband was not collected） was extracted. PCR amplification was performed on exons 8， 10， 11， 13， 14， 15 and 16 of the RET gene， and the products were directly sequenced. 【Results】 Review of the medical history showed that two probands with medullary thyroid carcinoma were accompanied with hyperparathyroidism， and one family member had pheochromocytoma. The RET gene mutation test confirmed that 13 family members， consisting of 5 probands and 8 family members， had the RET proto-oncogene exon 10 missense mutation. The heterozygous missense had mutation c.1852T>A， leading to the conversion of cysteine （TGC） at position 618 to serine （AGC）（Cys618Ser）. All subjects carrying RET gene Cys618Ser mutation had abnormal thyroid ultrasound change， accompanied with elevated calcitonin levels. Subjects carrying wild type of RET gene had normal calcitonin levels. The family was finally diagnosed with MEN2A by RET gene detection. 【Conclusion】 RET gene detection plays key role in the diagnosis and treatment of patients with MEN2A family and has guiding value in the follow-up and prognosis of asymptomatic carriers. There is a positive correlation between calcitonin level and the RET protooncogene mutation Cys618Ser. Patients suspected of MEN2A should be screened in time.