Pheochromocytoma in multiple endocrine neoplasia type 2: a prospective study
Pheochromocytoma in multiple endocrine neoplasia type 2: a prospective study
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DOI：
10.1530/eje.0.1440037
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发表时间：
2001-01-01
影响因子：
5.8
通讯作者：
Conte-Devolx, B
中科院分区：
文献类型：
--
作者：
Nguyen, L;Niccoli-Sire, P;Conte-Devolx, B
目的：这项前瞻性研究的目的是更新我们的知识，嗜铬细胞瘤发生的时间表在多发性内分泌瘤2型（MEN 2），并更好地管理MEN 2患者后的遗传diagnosis.Design：87非索引基因携带MEN 2患者被纳入这项前瞻性研究：MEN 2A型84例（来自52个家系），MEN 2B型3例（来自3个家系）。方法：在基础状态下或五肽胃泌素刺激后测定血浆降钙素，诊断甲状腺髓样癌（MTC）。嗜铬细胞瘤的搜索包括临床评估，24小时尿儿茶酚胺测定和肾上腺显像。MEN 2基因诊断的平均年龄为14.0 ± 7.0岁，平均随访时间为7.6 ± 2.8岁。结果：所有87例患者在进行基因诊断的同时检测到MTC。尿儿茶酚胺测量导致嗜铬细胞瘤的诊断和成像技术的组合，使单侧或双侧肾上腺受累的正确定位。嗜铬细胞瘤与MTC同时检测到只有7名患者，和其他7人在整个后续检测。14例嗜铬细胞瘤，11例有双边参与：9最初是双边的，两个成为follow-up.Conclusion：这项研究表明，在MEN 2，MTC是最早出现的病变。嗜铬细胞瘤在疾病发展过程中较晚发生，需要在整个随访期间定期进行临床和生物学监测。应进行尿和/或血浆儿茶酚胺和变肾上腺素测定以检测嗜铬细胞瘤。成像技术可以检测到单侧和双侧嗜铬细胞瘤，从而使视频辅助腹腔镜肾上腺切除术成为可能。
Objective: The aim of this prospective study is to update our knowledge of the chronology of pheochromocytoma occurrence in multiple endocrine neoplasia type 2 (MEN 2), and to better manage MEN 2 patients after the genetic diagnosis.Design: Eighty-seven non-index gene carrier MEN 2 patients were included in this prospective study: 84 patients with MEN 2A (from 52 families) and 3 with MEN 2B (from 3 families),Methods: Medullary thyroid carcinoma (MTC) was diagnosed by measuring plasma calcitonin in basal conditions or after pentagastrin stimulation. The search for pheochromocytoma consisted of clinical evaluation, 24 h determination of urinary catecholamines and adrenal imaging. The mean age at genetic diagnosis of MEN 2 was 14.0 +/- 7.0 years, the mean duration for the follow-up was;7.6 +/- 2.8 pears,Results: All 87 patients had a MTC detected at the same time as the genetic diagnosis was made. Urinary catecholamine measurements led to the diagnosis of pheochromocytoma and a combination of imaging techniques enabled the correct localization of both unilateral or bilateral adrenal involvement. Pheochromocytoma was detected simultaneously with MTC in only seven patients, and seven others were detected throughout the follow-up. Of the 14 patients with pheochromocytoma, 11 had bilateral involvement: nine were initially bilateral and two became so during follow-up.Conclusion: This study demonstrates that in MEN 2, MTC is the lesion which appears earliest. Pheochromocytoma develops later during the evolution of the disease, and necessitates regular clinical and biological monitoring throughout follow-up. Determination of urinary and/or plasma catecholamines and metanephrines should be performed to detect pheochromocytoma. Imaging techniques lead to the detection of both unilateral and bilateral pheochromocytoma, thus making video-assisted laparoscopic adrenalectomy possible.