Branton Philip A, Sobin Leslie, Barcus Mary, Engel Kelly B, Greytak Sarah R, Guan Ping, Vaught Jim, Moore Helen M
From the Biorepositories and Biospecimen Research Branch, Cancer Diagnosis Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, Maryland (Branton, Guan, Vaught, Moore).
Leidos Biomedical Research Inc, Rockville, Maryland (Sobin, Barcus).
Arch Pathol Lab Med. 2025 Mar 1;149(3):233-241. doi: 10.5858/arpa.2023-0468-OA.
CONTEXT.—: The National Institutes of Health (NIH) Genotype-Tissue Expression (GTEx) project was designed to evaluate how genetic variation and epigenetic effects influence gene expression in normal tissue.
OBJECTIVE.—: To ensure that the grossly normal-appearing tissues collected were free from disease, each specimen underwent histologic evaluation.
DESIGN.—: In total, nearly 30 000 tissue aliquots collected from almost 1000 postmortem donors underwent histologic review by project pathologists, and detailed observations of any abnormalities or lesions present were recorded.
RESULTS.—: Despite sampling of normal-appearing tissue, in-depth review revealed incidental findings among GTEx samples that included neoplastic, autoimmune, and genetic conditions; the incidence of some of these conditions among GTEx donors differed from those previously reported for other populations. A number of age-related abnormalities observed during histologic review of tissue specimens are also described.
CONCLUSIONS.—: Histologic findings from the GTEx project may serve to improve populational awareness of several conditions and present a unique opportunity for others to explore age- and sex-influenced conditions. Resources from the study, including histologic image and sequencing data, are publicly available for research.
美国国立卫生研究院（NIH）的基因型-组织表达（GTEx）项目旨在评估基因变异和表观遗传效应如何影响正常组织中的基因表达。
为确保所收集的外观大体正常的组织无疾病，每个标本都进行了组织学评估。
项目病理学家对从近1000名死后捐赠者身上收集的总共近30000份组织样本进行了组织学检查，并记录了所发现的任何异常或病变的详细情况。
尽管采集的是外观正常的组织，但深入检查发现GTEx样本中存在一些偶发情况，包括肿瘤、自身免疫和遗传疾病；其中一些疾病在GTEx捐赠者中的发生率与先前报道的其他人群不同。本文还描述了在组织标本组织学检查过程中观察到的一些与年龄相关的异常情况。
GTEx项目的组织学研究结果可能有助于提高公众对几种疾病的认识，并为其他人探索受年龄和性别影响的疾病提供了独特的机会。该研究的资源，包括组织学图像和测序数据，都可供公众用于研究。
