PHEOCHROMOCYTOMA IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A - SURVEY OF 100 CASES
PHEOCHROMOCYTOMA IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A - SURVEY OF 100 CASES
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DOI：
10.1111/j.1365-2265.1993.tb00350.x
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发表时间：
1993-05-01
影响因子：
3.2
通讯作者：
MODIGLIANI, E
中科院分区：
文献类型：
--
作者：
CASANOVA, S;ROSENBERGBOURGIN, M;MODIGLIANI, E
目的 我们报告 40 个法国家庭和明显散发的 2 A 型多发性内分泌肿瘤 (MEN) 病例（甲状腺髓样癌、嗜铬细胞瘤，伴或不伴甲状旁腺功能亢进）的嗜铬细胞瘤的临床、生化、形态学和组织学数据。 设计 这项回顾性研究来自“肿瘤研究组”注册的病例降钙素'从1968年到1990年。我们用Pigas软件分析了具有足够精确的嗜铬细胞瘤数据的病例。患者回顾了100名MEN 2 A患者的嗜铬细胞瘤特征。 51% 的嗜铬细胞瘤是双侧的。该疾病在来自 40 个家族的 94 名患者（40 名先证者，54 名亲属）中遗传，其中 6 名患者明显散发。 结果 在该系列中，39.8% 的病例诊断情况高度提示嗜铬细胞瘤，而 43.2% 的病例是通过对患者进行系统检查做出诊断的，无论是在甲状腺切除术之前（27.3%）还是之后（13.6%），或者在发现甲状腺切除术之后。甲状旁腺功能亢进症（2.3%）。 15%的患者是通过家庭筛查发现的。猝死发生率8.9%，恶性嗜铬细胞瘤发生率3%，异位组织发生率4%。尿变肾上腺素似乎是最敏感的筛查测试。临床症状的程度与特定的激素模式无关。 60% 进行了双侧肾上腺切除术（50% 为一步切除术，10% 为两步切除术）。在这些患者中，92.5% 观察到双侧组织学病变。 73.4%的患者同时诊断出肾上腺和甲状腺疾病，但嗜铬细胞瘤可能在甲状腺髓样癌之前（9.6%）或之后（17%）被诊断出来，其中25例间隔大于2年。结论由于这100例MEN 2 A中嗜铬细胞瘤的临床症状各不相同，因此需要进行全身肾上腺生物学检测。即使在明显散发的病例中，也必须系统地寻找甲状腺髓样癌中的嗜铬细胞瘤（反之亦然）。由于双侧肾上腺疾病的频繁发生，嗜铬细胞瘤的筛查必须重复多年。
OBJECTIVE We report clinical, biochemical, morphological and histological data of phaeochromocytoma in 40 French families and in apparently sporadic cases of multiple endocrine neoplasia (MEN) type 2 A (medullary thyroid carcinoma, phaeochromocytoma, with or without hyperparathyroidism).DESIGN This retrospective study was obtained from cases registered by the 'Groupe d'Etudes des Tumeurs a Calcitonine' from 1968 to 1990. We analysed the cases having sufficiently precise data on phaeochromocytoma with Pigas Software.PATIENTS Characteristics of phaeochromocytoma in 100 patients with MEN 2 A were reviewed. Phaeochromocytoma was bilateral in 51%. The disease was inherited in 94 patients from 40 families (40 probands, 54 relatives), and was apparently sporadic in six.RESULTS In this series, diagnostic circumstances were highly suggestive of phaeochromocytoma in 39.8% of the cases, whereas in 43.2%, diagnosis was made through systematic investigations of patients, either before (27.3%) or after (13.6%) thyroidectomy, or after discovery of hyperparathyroidism (2.3%). Fifteen per cent of patients were detected by family screening. Sudden death occurred in 8.9%, malignant phaeochromocytoma in 3%, and ectopic tissue in 4% of the cases. Urinary metanephrines appeared to be the most sensitive screening test. The extent of clinical symptoms was not associated with a particular hormonal pattern. Bilateral adrenalectomy was performed in 60% (in one step in 50%, in two steps in 10%). In these patients, bilateral histological lesions were observed in 92.5%. Simultaneous diagnosis for adrenal and thyroid disease was made in 73.4%, but phaeochromocytoma may be diagnosed before (9.6%) or after (17%) medullary thyroid carcinoma, with an interval greater than 2 years in 25 cases.CONCLUSION Owing to variable clinical symptoms of phaeochromocytoma in these 100 cases of MEN 2 A, systemic biological adrenal assay is required. The search for phaeochromocytoma in medullary thyroid carcinoma (and vice versa) has to be systematically performed, even in apparently sporadic cases. Screening for phaeochromocytoma must be repeated for years, owing to the frequency of bilateral adrenal disease.