Sipple综合征1例并文献复习

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Abstract Sipple syndrome (MEN-2A) is a tumor syndrome that can affect multiple endocrine organs simultaneously or sequentially. As a rare familial inherited disease, it is associated with mutations in the RET gene located on the autosome. The RET gene is usually expressed on thyroid C cells, chromaffin cells and parathyroid cells, so Sipple syndrome is easily missed as one or more of Medullary carcinoma of the thyroid gland (MTC), pheochromocytoma (PHEO) and primary hyperparathyroidism (PHPT). One patient was admitted to the First Affiliated Hospital of Guangdong University of Traditional Chinese Medicine with a left adrenal mass, with the typical PHEO symptoms: palpitations and hyperhidrosis. During the diagnosis and treatment, multiple endocrine organs (adrenal, pancreas, parathyroid, thyroid) and non-endocrine organs (left femur) were found in the diagnosis, and MEN (multiple endocrine neoplasia) were diagnosed. MEN includes MEN-1 caused by mutation of MEN-1 gene and MEN-2 caused by mutation of RET gene.Aim to definite diagnosis, the patient took RET gene test and MEN-1 gene test after the surgery. The results were reported as MEN-2A caused by RET gene mutation. The lesions of Sipple syndrome often involve the adrenal, thyroid and parathyroid glands, so early diagnosis depends on the localization and qualitative diagnosis of pheochromocytoma, medullary thyroid carcinoma, and parathyroid adenoma. RET gene is the gold standard for the diagnosis of Sipple syndrome，and surgery is the main treatment for it.

Key words： Sipple syndrome Pheochromocytoma Medullary thyroid carcinoma Parathyroid adenoma RET gene

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	HUANG Anhao1 LI Tuxuan2 XIE Jianxing3 MENG Lei3

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HUANG Anhao1 LI Tuxuan2 XIE Jianxing3 MENG Lei3. A case of Sipple syndrome and literature review[J]. 中国医药导报, 2019, 16(11): 154-156,160.

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http://www.yiyaodaobao.com.cn/EN/ OR http://www.yiyaodaobao.com.cn/EN/Y2019/V16/I11/154

[1] Machens A，Niccoli-Sire P，Hoegel J，et al. Early malignant progression of hereditary medullary thyroid cancer [J]. N Engl J Med，2003，349（16）：1517.
[2] 宁志伟，王鸥，裴育，等.RET基因Cys 634 Trp突变致多发性内分泌腺瘤2A型[J].中国医学科学院学报，2006， 28（6）：799-802.
[3] 王鸥，邢小平，孟迅吾，等.MEN患者甲状旁腺功能亢进症的临床表现[J].中华内分泌代谢杂志，2004，20（4）：296-299.
[4] Romei C，Pardi E，Cetani F，et al. Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2 [J]. J Oncol，2012，2012（6）：705036.
[5] Chandrasekharappa SC，Guru SC，Manickam P，et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1 [J]. Science，1997，276（5311）：404-407.
[6] Chandrasekharappa SC，Teh BT. Functional studies of the MEN1 gene [J]. J Intern Med，2010，253（6）：606-615.
[7] Frankraue K，Buhr H，Dralle H，et al. Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy： impact of individual RET genotype [J]. Eur J Endocrinol，2006，155（2）：229-236.
[8] Carling T. Multiple endocrine neoplasia syndrome： genetic basis for clinical management [J]. Curr Opin Oncol，2005，17（1）：7.
[9] Goudet P，Bonithonkopp C，Murat A，et al. Gender-related differences in MEN1 lesion occurrence and diagnosis： a cohort study of 734 cases from the Groupe d'etude des Tumeurs Endocrines [J]. Eur J Endocrinol，2011，165（1）：97-105.
[10] Delellis RA. Pathology and genetics of tumours of endocrine organs [M]. Lyon：IARC Press，2004.
[11] Reisch N，Peczkowska M，Januszewicz A，et al. Pheochromocytoma： presentation，diagnosis and treatment [J]. J Hypertens，2006，24（12）：2331-2339.
[12] Pinato DJ，Ramachandran R，Toussi STK，et al. Immunohistochemical markers of the hypoxic response can identify malignancy in phaeochromocytomas and paragangliomas and optimize the detection of tumours with VHL germline mutations [J]. Br J Cancer，2013，108（2）：429-437.
[13] González-Escobar A ，Morillo-Sánchez MJ，García-Campos JM. Von Hippel–Lindau disease：Family study [J]. Arch Soc Cir Chile，2012，87（11）：368-372.
[14] Schiavi F，Demattè S，Cecchini ME，et al. The endemic paraganglioma syndrome type 1： origin，spread，and clinical expression [J]. J Clin Endocrinol Metab，2012，97（4）：E637-E641.
[15] Gattacherifi B，Chabre O，Murat A，et al. Adrenal involvement in MEN1. analysis of 715 cases from the groupe d'etude des tumeurs endocrines database [J]. Eur J Endocrinol，2012，166（2）：269-279.
[16] Castellone MD，Verrienti A，Rao DM，et al. A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma：functional characterization [J]. Clin Endocrinol，2010，73（4）：529-534.
[17] Persu A，Lannoy N，Maiter D，et al. Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium： an update [J]. Horm Metab Res，2012，44（5）：349.
[18] Amar L，Bertherat J，Baudin E，et al. Genetic testing in pheochromocytoma or functional paraganglioma [J]. J Clin Oncol，2005，23（34）：8812-8818.
[19] Brandi ML，Gagel RF，Angeli A，et al. Consensus： guidelines for diagnosis and therapy of MEN type 1 and type 2 [J]. J Clin Endocrinol Metab，2001，86（12）：5658.
[20] Del PC，Garcíapascual L，Balsells M，et al. Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature [J]. Hormones，2011， 10（4）：326.