{"id":"hum0295","version":1,"url":"https://humandbs.dbcls.jp/research/hum0295/v1","datePublished":"2024-10-25","versions":[{"version":1,"datePublished":"2024-10-25"}],"title":{"ja":"皮膚腫瘍の診断と治療効果の評価および経過観察のためのバイオマーカーの探索（前向き観察研究）","en":"Search for biomarkers for diagnosis, evaluation of therapeutic effect, and follow-up of skin tumors (prospective observational study)"},"summary":{"aims":{"ja":"皮膚腫瘍のバイオマーカーの種類には、1）血中・尿中・体液中のマーカー、2）病変組織の病理組織学的・免疫組織学的マーカー、3）腫瘍組織の遺伝学的マーカー、4）生殖細胞系列遺伝子解析により検出される疾患感受性マーカーなどがある。血中の腫瘍マーカーは皮膚悪性腫瘍の診療に頻繁に利用されているが、早期の悪性腫瘍の検出には適していない。血中循環腫瘍細胞、cell free DNA、エクソソームなどは近年研究がすすめられているが、臨床応用は道半ばである。これらの状況を踏まえ、本研究は皮膚腫瘍の診断、治療効果、経過観察のためのバイオマーカーを探索し、その有用性を検証することを目的とする。","en":"DNA extracted from tumor and normal tissue (blood or saliva) was collected from patients with skin tumors. Tumor was primary lesion only (9 cases), metastatic lesion only (5), or both (7). 21 patients with melanoma and 1 patient with sebaceous nevus were enrolled. 29 tumor and 21 normal tissues were analyzed. From the case with sebaceous nevus, DNA was extracted from three parts of a tumor (sebaceous nevus, trichoblastoma and poroma)."},"methods":{"ja":"腫瘍のドライバー変異を検出するため、腫瘍組織と正常組織のDNAをカスタムパネル（メラノーマに関連する遺伝子およびゲノム領域 95か所をターゲットとした3,336個のプライマーペア）を用いてシーケンスした。","en":"To detect tumor driver mutations, DNAs from tumor and non-tumor tissues were sequenced with a custom panel. Tumor DNA was extracted from patients' formalin-fixed paraffin-embedded sections. The panel contains 3,336 primer-pair for 95 gene regioins."},"targets":{"ja":"悪性黒色腫患者98名、脂腺母斑患者1名","en":"98 patients with melanoma and one patient with sebaceous nevus were enrolled."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"悪性黒色腫：98症例\n脂腺母斑：1症例\n（日本人）","en":"melanoma: 98 cases\nsebaceous nevus: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Amplicon-seq）","en":"NGS\n(Amplicon-seq)"}},"releaseNote":{"ja":"皮膚腫瘍（悪性黒色腫、脂腺母斑）症例の腫瘍組織および非腫瘍組織から抽出したDNAを用いた95遺伝子領域のカスタムパネルシークエンス解析の結果をfastqファイルにて提供する。","en":"DNAs extracted from tumor and non-tumor tissues collected from patients with skin tumors (melanoma or sebaceous nevus) were used for amplicon sequencing with a custom panel for 95 genes. Fastq files are provided."},"dataProviders":[{"name":{"ja":"宇原 久","en":"Hisashi Uhara"},"organization":{"name":{"ja":"札幌医科大学 皮膚科学講座","en":"Dermatology, Sapporo Medical University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"先進ゲノム解析研究推進プラットフォーム","en":"Platform for Advanced Genome Science"},"agency":{"ja":"科学研究費助成事業 新学術領域研究","en":"KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["16H06279"]},{"title":{"ja":"1細胞遺伝子発現解析によるメラノーマ細胞の増殖及び免疫関連分子間の関係性の解明","en":"Characterization of the intratumoral ecosystem in melanoma by single-cell RNA-seq analysis"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["19K08752"]},{"title":{"ja":"日本人メラノーマのドライバー変異と融合遺伝子の網羅的解析","en":"Comprehensive analysis of genetic mutations and fusions in Japanese melanoma"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["21K08304"]},{"title":{"ja":"メラノーマにおける複数の変異遺伝子を候補とした個別化リキッドバイオプシー法の確立","en":"Establishment of a personalized liquid biopsy method targeting multiple candidate mutated genes in melanoma"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["22K08388"]},{"title":{"ja":"日本人メラノーマの包括的ゲノム解析と血中循環腫瘍細胞の解析による先制的医療","en":"Preemptive medicine for Japanese melanoma through comprehensive analysis of tumor genome and circulating tumor cells"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["24K11477"]}],"relatedPublications":[{"title":"Genetic analyses of a secondary poroma and trichoblastoma in a HRAS-mutated sebaceous nevus","doi":"https://doi.org/10.1111/1346-8138.15919","datasets":["JGAD000465"]},{"title":"Genetic characteristics of cutaneous, acral, and mucosal melanoma in Japan.","doi":"https://doi.org/10.1002/cam4.70360","datasets":["JGAD000465"]}],"datasets":["JGAD000465"],"controlledAccessUsers":[]}