Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association?
Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association?
复制标题
DOI：
10.1186/1471-2407-12-614
复制
发表时间：
2012-12-22
期刊：
影响因子：
3.8
通讯作者：
Pomata M
中科院分区：
文献类型：
--
作者：
Erdas E;Aste N;Pilloni L;Nicolosi A;Licheri S;Cappai A;Mastinu M;Cetani F;Pardi E;Mariotti S;Pomata M
多发性内分泌腺瘤病1型(MEN1)的诊断通常基于临床标准，并通过基因检测得到确认。在没有已知的MEN1相关胚系突变的患者中，不能排除两个或更多内分泌肿瘤之间偶然关联的可能性，随后的治疗可能很难计划。我们描述了一个与原发性甲状旁腺功能亢进症(PHPT)相关的非常罕见的功能性葡萄糖素瘤病例，在该病例中，基因检测未能检测到MEN1的MAN-1和其他已知基因的种系突变。患者是一名65岁的女性，一年多来一直患有虚弱、进行性体重减轻、唇角炎、舌炎，最近会、口周皮肤和腹股沟皱褶出现皮疹。经过多学科调查后，诊断为功能性葡萄糖素瘤和无症状PHPT，由于家族史为阴性，怀疑为散发性MEN1。然而，基因测试发现，MEN1的罕见病例(CDKN1B/p27和其他周期蛋白依赖的激酶抑制基因CDKN1A/p15、CDKN2C/p18、CDKN2B/p21)既不是MEN-1基因突变，也不是其他基因突变。患者接受了远端脾胰腺切除术，在4个月的随访中，症状完全缓解。6个月后，分别行超声细针吸取细胞学检查1例疑似恶性肿瘤的甲状腺结节和2例甲状旁腺功能亢进的甲状旁腺；进行了甲状腺全切除术，而选择性甲状旁腺切除术比更广泛的手术更受欢迎，因为MEN1的诊断没有遗传分析的支持，而且在第二次甲状旁腺切除术后，术中完整的甲状旁腺激素显示出“腺瘤样”的动力学。39分别在第一次和第二次手术后25个月，患者情况良好，没有复发的迹象或症状。尽管有明确的诊断标准和指南，但对MEN1的诊断仍然具有挑战性。当诊断有疑问时，可能很难建立适当的处理方法。
Diagnosis of multiple endocrine neoplasia type 1 (MEN1) is commonly based on clinical criteria, and confirmed by genetic testing. In patients without known MEN1-related germline mutations, the possibility of a casual association between two or more endocrine tumors cannot be excluded and subsequent management may be difficult to plan. We describe a very uncommon case of functioning glucagonoma associated with primary hyperparathyroidism (pHPT) in which genetic testing failed to detect germline mutations of MEN-1 and other known genes responsible for MEN1. The patient, a 65-year old woman, had been suffering for more than 1 year from weakness, progressive weight loss, angular cheilitis, glossitis and, more recently, skin rashes on the perineum, perioral skin and groin folds. After multidisciplinary investigations, functioning glucagonoma and asymptomatic pHPT were diagnosed and, since family history was negative, sporadic MEN1 was suspected. However, genetic testing revealed neither MEN-1 nor other gene mutations responsible for rarer cases of MEN1 (CDKN1B/p27 and other cyclin-dependent kinase inhibitor genes CDKN1A/p15, CDKN2C/p18, CDKN2B/p21). The patient underwent distal splenopancreatectomy and at the 4-month follow-up she showed complete remission of symptoms. Six months later, a thyroid nodule, suspected to be a malignant neoplasia, and two hyperfunctioning parathyroid glands were detected respectively by ultrasound with fine needle aspiration cytology and 99mTc-sestamibi scan with SPECT acquisition. Total thyroidectomy was performed, whereas selective parathyroidectomy was preferred to a more extensive procedure because the diagnosis of MEN1 was not supported by genetic analysis and intraoperative intact parathyroid hormone had revealed “adenoma-like” kinetics after the second parathyroid resection. Thirty-nine and 25 months after respectively the first and the second operation, the patient is well and shows no signs or symptoms of recurrence. Despite well-defined diagnostic criteria and guidelines, diagnosis of MEN1 can still be challenging. When diagnosis is doubtful, appropriate management may be difficult to establish.
登录
查看更多内容
影响因子：
3.4
作者：
Kindmark, Henrik;Sundin, Anders;Eriksson, Barbro
通讯作者：
Eriksson, Barbro
影响因子：
3.8
作者：
Elaraj, DM;Skarulis, MC;Alexander, HR
通讯作者：
Alexander, HR
DOI：
10.1016/s0950-3528(96)90019-6
发表时间：
1996-12-01
期刊：
BAILLIERES CLINICAL GASTROENTEROLOGY
影响因子：
--
作者：
Frankton, S;Bloom, SR
通讯作者：
Bloom, SR
影响因子：
2.6
作者：
Goudet, Pierre;Murat, Arnaud;Bonithon-Kopp, Claire
通讯作者：
Bonithon-Kopp, Claire
影响因子：
5.8
作者：
Georgitsi, Marianthi;Raitila, Anniina;Aaltonen, Lauri A.
通讯作者：
Aaltonen, Lauri A.