{"id":"hum0608","secondaryIds":[],"version":1,"url":"https://humandbs.dbcls.jp/research/hum0608/v1","datePublished":"2026-11-13","versions":[{"version":1,"datePublished":"2026-11-13"}],"title":{"ja":"皮膚悪性腫瘍の診断に関する探索的研究","en":"Exploratory study on the diagnosis of cutaneous malignant tumors"},"summary":{"aims":{"ja":"本研究「皮膚悪性腫瘍の診断に関する探索的研究」は、皮膚悪性腫瘍、とりわけ爪部に発生し皮膚生検による診断が困難な腫瘍を対象に、ホルマリン固定パラフィン包埋（FFPE）標本から抽出した核酸を用いて遺伝子発現・遺伝子変異を網羅的に解析し、低侵襲な術前・鑑別診断法の確立に資することを目的とする。本データベースに登録するデータは、その前段階の基盤的解析として実施した、爪部悪性黒色腫を中心とするバルクRNAシークエンスデータである。具体的には、(1) 爪部悪性黒色腫の主コホート（早期・進行期）における進行に伴うトランスクリプトーム変化の解析、(2) 爪部悪性黒色腫と爪部以外（足底・非末端）悪性黒色腫の分子的差異の比較解析を行い、爪部悪性黒色腫に特徴的な分子プログラムの同定を目指した。","en":"This exploratory study aims to characterize gene expression and mutations in cutaneous malignant tumors—particularly nail apparatus tumors, which are difficult to diagnose by skin biopsy—using nucleic acids from FFPE specimens, toward minimally invasive preoperative and differential diagnosis. The deposited data, a foundational analysis preceding that goal, consist of bulk RNA-sequencing data of cutaneous melanoma, primarily nail unit melanoma. Specifically, we analyzed (1) transcriptomic changes associated with progression in the main nail unit melanoma cohort (early- and late-stage) and (2) molecular differences between nail unit and non-nail (plantar acral and non-acral) melanoma."},"methods":{"ja":"ホルマリン固定パラフィン包埋（FFPE）切片からAllPrep DNA/RNA FFPE Kit（QIAGEN）を用いて全RNAを抽出した。SMART-Seq Stranded Kit（タカラバイオ）を用いてRNAシークエンスライブラリを作製し、Illumina NovaSeq 6000またはNovaSeq X Plusにより150bpのpaired-endシーケンスを実施した。ライブラリ作製およびシーケンスはタカラバイオ株式会社に委託した。","en":"Total RNA was extracted from formalin-fixed, paraffin-embedded (FFPE) sections using the AllPrep DNA/RNA FFPE Kit (QIAGEN). RNA-sequencing libraries were prepared using the SMART-Seq Stranded Kit (Takara Bio), and 150-bp paired-end sequencing was performed on Illumina NovaSeq 6000 or NovaSeq X Plus instruments. Library preparation and sequencing were outsourced to Takara Bio Inc."},"targets":{"ja":"対象は皮膚悪性黒色腫の患者55名で、ホルマリン固定パラフィン包埋（FFPE）腫瘍標本を用いた。内訳は、主コホートとして爪部悪性黒色腫43名（早期22名、進行期21名）、および爪部以外との比較のための進行期（AJCC病期IIB以上）非爪部悪性黒色腫12名（足底型6名、非末端皮膚型6名）である。各症例につき1腫瘍検体・1ライブラリのバルクRNAシークエンス（paired-end）を実施した（計55検体）。","en":"The subjects were 55 patients with cutaneous melanoma, using FFPE tumor specimens. They comprised a main cohort of 43 nail unit melanoma patients (22 early-stage, 21 late-stage) and 12 late-stage (AJCC stage IIB or higher) non-nail melanoma patients (6 plantar acral, 6 non-acral) for cross-subtype comparison. Paired-end bulk RNA-sequencing was performed with one tumor specimen per patient (55 in total)."}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"皮膚悪性黒色腫：55症例","en":"cutaneous melanoma: 55 cases"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"皮膚悪性黒色腫55症例（爪部悪性黒色腫43症例、非爪部悪性黒色腫12症例）の腫瘍組織から抽出したRNAを用いたRNA sequencing 解析データをfastqファイルにて提供する。","en":"RNAs extracted from tumor  tissues obtained from 55 patients with cutaneous melanoma (43 nail unit melanoma  and 12 non-nail melanoma) were used for the RNA sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"大塚 篤司","en":"Atsushi Otsuka"},"organization":{"name":{"ja":"近畿大学医学部 皮膚科学教室","en":"Department of Dermatology, Kindai University Faculty of Medicine"}}}],"researchProjects":[],"grants":[],"relatedPublications":[{"title":"Stage-Associated Collagen Gene Expression and Macrophage-Associated Immune Features in Nail Unit Melanoma","doi":"https://doi.org/10.1111/pcmr.70143","datasets":["JGAD001119"]}],"datasets":["JGAD001119"],"controlledAccessUsers":[]}