垂体腺瘤分子登记处(REMAH):西班牙内分泌学对未来个体化医学和转化研究的押注

Raúl M. Luque , Alejandro Ibáñez-Costa , Laura Sánchez-Tejada , Esther Rivero-Cortés , Mercedes Robledo , Ainara Madrazo-Atutxa , Mireia Mora , Clara V. Álvarez , Tomás Lucas-Morante , Cristina Álvarez-Escolá , Carmen Fajardo , Luis Castaño , Sonia Gaztambide , Eva Venegas-Moreno , Alfonso Soto-Moreno , María Ángeles Gálvez , Javier Salvador , Elena Valassi , Susan M. Webb , Antonio Picó , Justo P. Castaño
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引用次数: 14

摘要

垂体腺瘤是一种罕见的、难以诊断的肿瘤,其异质性和低发病率使大规模研究复杂化。2008年,安达卢西亚内分泌与营养学会(SAEN)推动了垂体腺瘤分子登记(REMAH),作为一项合作的临床基础多中心策略,旨在通过结合临床、病理和分子信息来改善垂体腺瘤的诊断和治疗。2010年,西班牙内分泌学和营养学会(SEEN)将该项目扩展到国家层面,并建立了6个节点,这些节点具有样本和临床数据收集、分子分析、,和数据记录在一个共同的注册中心(www.remahnacional.com)。该注册中心使用26个基因表达的定量实时PCR将临床数据与切除垂体腺瘤的分子表型相结合:垂体激素(GH-PRL-LH-FH-PRL-ACTH-CGA)、受体(生长抑素、多巴胺、GHRH、GnRH、CRH、精氨酸-加压素、生长素释放肽)、其他标志物(Ki67、PTTG1),和控制基因。截至2015年,已从1179名注册患者中的704名腺瘤中收集了分子信息。这种策略允许对不同类型腺瘤的分子特征和患者的临床表型进行比较和关系分析,这可能会更好地了解病情,并可能有助于选择治疗方法。因此,REMAH是一个独特的多中心、跨学科网络,建立在共享数据库的基础上,为垂体腺瘤的管理提供了一种意义深远的转化方法,并为对大型患者样本进行联合临床基础创新研究铺平了道路。
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The Molecular Registry of Pituitary Adenomas (REMAH): A bet by Spanish Endocrinology for the future of individualized medicine and translational research

Pituitary adenomas are uncommon, difficult to diagnose tumors whose heterogeneity and low incidence complicate large-scale studies. The Molecular Registry of Pituitary Adenomas (REMAH) was promoted by the Andalusian Society of Endocrinology and Nutrition (SAEN) in 2008 as a cooperative clinical-basic multicenter strategy aimed at improving diagnosis and treatment of pituitary adenomas by combining clinical, pathological, and molecular information. In 2010, the Spanish Society of Endocrinology and Nutrition (SEEN) extended this project to national level and established 6 nodes with common protocols and methods for sample and clinical data collection, molecular analysis, and data recording in a common registry (www.remahnacional.com). The registry combines clinical data with molecular phenotyping of the resected pituitary adenoma using quantitative real-time PCR of expression of 26 genes: pituitary hormones (GH-PRL-LH-FSH-PRL-ACTH-CGA), receptors (somatostatin, dopamine, GHRH, GnRH, CRH, arginine–vasopressin, ghrelin), other markers (Ki67, PTTG1), and control genes. Until 2015, molecular information has been collected from 704 adenomas, out of 1179 patients registered. This strategy allows for comparative and relational analysis between the molecular profile of the different types of adenoma and the clinical phenotype of patients, which may provide a better understanding of the condition and potentially help in treatment selection. The REMAH is therefore a unique multicenter, interdisciplinary network founded on a shared database that provides a far-reaching translational approach for management of pituitary adenomas, and paves the way for the conduct of combined clinical-basic innovative studies on large patient samples.

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