病例报告：PIK3CA体细胞突变导致Klippel Trenaunay综合征和多发性肿瘤
一份关于PIK3CA体细胞突变导致Klippel Trenaunay综合征并发展多发性肿瘤的病例报告，基于9年临床和分子监测。
基本信息
资源简介
病例报告：PIK3CA体细胞突变导致Klippel Trenaunay综合征和多发性肿瘤
【一句话概览】
本数据集是 figshare 公开的文本数据集，收录 1 个文件、合计 14.61 KB，主题涵盖 NGS-liquid biopsy、Klippel-Trenaunay Syndrome、squamous cell carcinoma adenocarcinoma、tailored therapy、case report，可用于医学自然语言处理（实体识别、信息抽取等），CC BY 4.0 许可开放获取。
【数据集背景】
本数据集源站标题为《DataSheet1_Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.docx》。配套论文《Klippel–Trenaunay syndrome belongs to the <i>PIK3CA</i>‐related overgrowth spectrum (PROS)》发表于 Experimental Dermatology（2015），DOI：10.1111/exd.12826。源站首次发布：2023-08-17。
【数据内容】
源站原始描述：We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of PIK3CA (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy. At the age of 56, due to intervening clonal mutations in PIK3CA background, she developed a squamous cell carcinoma in the right affected leg which was treated surgically. Nine years later, lung bilateral adenocarcinoma arose on PIK3CA mutated tissues supporte…
【数据结构与技术规格】
文件数 1 个，合计 14.61 KB。DataSheet1_Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.docx：undefined，14.61 KB。数据集 DOI：10.3389/fgene.2023.1213283.s001。
【主题与分类】
源站学科分类：Gene and Molecular Therapy、Gene Expression (incl. Microarray and other genome-wide approaches)、Genetics、Genetically Modified Animals、Livestock Cloning、Developmental Genetics (incl. Sex Determination)。主题标签：NGS-liquid biopsy、Klippel-Trenaunay Syndrome、squamous cell carcinoma adenocarcinoma、tailored therapy、case report。
【适用方向】
文本类数据可用于医学自然语言处理，如命名实体识别、信息抽取与文本分类。
【获取与许可】
源站页面：https://frontiersin.figshare.com/articles/dataset/DataSheet1_Case_report_PIK3CA_somatic_mutation_leading_to_Klippel_Trenaunay_Syndrome_and_multiple_tumors_docx/23973468
使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。
规范引用：Serio, Viola Bianca; Palmieri, Maria; Innamorato, Simona; Loberti, Lorenzo; Fallerini, Chiara; Ariani, Francesca; et al. (2023). DataSheet1_Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.docx. Frontiers. Dataset
下载信息
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使用方式
数据集获取（Figshare）
- 源站标题：DataSheet1_Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.docx
- DOI：10.3389/fgene.2023.1213283.s001
- 发布日期：2023-08-17
- 文件数：1 个
- 文件总体积：14.61 KB
- 源站页面：https://frontiersin.figshare.com/articles/dataset/DataSheet1_Case_report_PIK3CA_somatic_mutation_leading_to_Klippel_Trenaunay_Syndrome_and_multiple_tumors_docx/23973468
命令行下载
curl -L -o "DataSheet1_Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.docx" "https://ndownloader.figshare.com/files/42035559"
文件清单
DataSheet1_Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.docx（14.61 KB）
文件总体积 14.61 KB（源站 API 实测）。
数据说明
We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of PIK3CA (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy. At the age of 56, due to intervening clonal mutations in PIK3CA background, she developed a squamous cell carcinoma in the right affected leg which was treated surgically. Nine years later, lung bilateral adenocarcinoma arose on PIK3CA mutated tissues supported by different clonal mutations. One year later, the patient died from metastases led by a new FGFR3 clone unresponsive to standard-of-care, immunotherapy-based. Our results highlight the presence of a molecular hallmark underlying neoplastic transformation that occurs upon an angiodysplastic process and support the view that PIK3CA mutated tissues must be treated as precancerous lesions. Importantly, they remark the effectiveness of combining cfDNA NGS liquid and tissue biopsies to monitor disease evolution as well as to identify aggressive clones targetable by tailored therapy, which is more efficient than conventional protocols.
许可
CC BY 4.0
引用
学术使用请引用 DOI 10.3389/fgene.2023.1213283.s001（source: https://frontiersin.figshare.com/articles/dataset/DataSheet1_Case_report_PIK3CA_somatic_mutation_leading_to_Klippel_Trenaunay_Syndrome_and_multiple_tumors_docx/23973468）。
数据缺失？
依托陕西、四川两大基地，我们与超过十家三甲医院建立直接合作关系，覆盖合规授权、采集治理、专业标注、数据交付的全流程，为AI医疗团队提供即拿即用的高质量临床数据。
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