{"id":"hum0465","version":1,"url":"https://humandbs.dbcls.jp/research/hum0465/v1","datePublished":"2024-07-25","versions":[{"version":1,"datePublished":"2024-07-25"}],"title":{"ja":"混合形質性急性白血病細胞株の樹立とゲノム解析","en":"Establishment and genomic analysis of mixed phenotypic acute leukemia cell lines"},"summary":{"aims":{"ja":"急性白血病の中でも、急性骨髄性白血病および急性リンパ性白血病の両方の形質を有する混合形質性急性白血病（以下、mixed phenotype acute leukemiae：MAPL）は、総じて化学療法に抵抗性があるとされており、中でもt(9;22)を有する症例は予後不良であり、克服すべき課題である。本疾患は全急性白血病の1％未満とされており、その疾患の希少性から、疾患治療法開発を進めるための臨床研究を実施しにくいというのが現状である。そこで我々は、MPAL症例の急性白血病細胞（MPAL細胞）から細胞株を樹立し、疾患発症に関わる遺伝子変異などを解析することで、治療に役立てることを目的に本研究を計画した。","en":"Among acute leukemias, mixed phenotype acute leukemias (mixed phenotype acute leukemia: MAPL), which have both acute myeloid and acute lymphocytic leukemia traits, are generally considered resistant to chemotherapy, especially those with t(9;22) MPAL has a poorer prognosis than other forms of MPAL and is a challenge to overcome. MPAL accounts for less than 1% of all acute leukemias, and the rarity of this disease makes it difficult to conduct clinical studies to develop treatments for the disease. Therefore, we planned to establish cell lines based on acute leukemia cells (JMPAL-1) obtained from an MPAL patient and to analyze information such as gene mutations related to disease development based on these cell lines for therapeutic purposes."},"methods":{"ja":"MPAL症例の骨髄検体から樹立した急性白血病細胞株（JMPA-1）のゲノム解析","en":"A cell line (JMPAL-1) was established from the acute leukemia cells of an MPAL patient. Genomic analysis of JMPAL-1 was performed."},"targets":{"ja":"急性混合型白血病1症例","en":"mixed phenotype acute leukemia"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing; Expression profiling"},"targets":{"ja":"急性混合型白血病：1症例\n（日本人）","en":"mixed phenotype acute leukemiae: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"急性混合型白血病1症例の骨髄検体より樹立した急性白血病細胞株（JMPAL-1）から抽出したDNA/RNAを用いたwhole exome sequencingおよびRNA sequencing解析データをbamファイルにて提供する。","en":"DNA/RNA extracted from acute leukemia cell line (JMPAL-1) established from the bone marrow sample obtained from a mixed phenotype acute leukemiae patient were used for the whole exome sequencing and RNA sequencing analyses. Bam files are provided."},"dataProviders":[{"name":{"ja":"石井 敬人","en":"Hiroto Ishii"},"organization":{"name":{"ja":"東京慈恵会医科大学 腫瘍・血液内科","en":"Division of Clinical Oncology & Hematology, Department of Internal Medicine, The Jikei University School of Medicine"}}}],"researchProjects":[],"grants":[],"relatedPublications":[],"datasets":["JGAD000854"],"controlledAccessUsers":[]}