京都大学 · 医学
Ryunosuke Saiki教授の研究室は、がんゲノムの中心的メカニズムである染色体領域のコピー数変異（CNA）とがん関連遺伝子変異の同時解析に注力しています。特に、高感度な次世代シーケンシングを用いたCNA検出技術の開発と、骨髄芽腫や白血病を含む骨髄系腫瘍における変異の包括的解析を進めています。また、加齢に伴うクローン性ヘモポエシス（CH）が心血管疾患や感染症、がん発症に与える影響の解明にも貢献しています。
Figures are computed from collected data and may differ slightly.
Abstract Implicated in the development of hematological malignancies (HM) and cardiovascular mortality, clonal hematopoiesis (CH) in apparently healthy individuals has been investigated by detecting either single-nucleotide variants and indels (SNVs/indels) or copy number alterations (CNAs), but not both. Here by combining targeted sequencing of 23 CH-related genes and array-based CNA detection of blood-derived DNA, we have delineated the landscape of CH-related SNVs/indels and CNAs in a general
Low-hypodiploid acute lymphoblastic leukemia (LH-ALL) in both children and adults is characterized by biallelic TP53 alterations in virtually all cases. However, in contrast to a common germline origin of the TP53 mutations in pediatric cases, those in adult cases are mostly somatic and are derived from age-related clonal hematopoiesis (ARCH), highlighting the role of TP53-mutant ARCH in the development not only of myeloid leukemogenesis but also of LH-ALL in aged populations. See related articl
Abstract Background Copy number alteration (CNA) is a hallmark of cancer genomes and has been implicated in the development of human cancers, including myeloid neoplasms. We developed a novel, next-generation sequencing-based platform for highly sensitive detection of CNAs with a single exon resolution, which was applied to sequencing data from 1,185 patients to delineate a comprehensive landscape of CNAs in myeloid neoplasms. Materials and Methods We enrolled 1,185 patients with different myelo
Background: Copy‐number alteration (CNA) is a hallmark of cancer genomes and has been implicated in the development of human cancers, including myeloid neoplasms. We developed a novel, next‐generation sequencing‐based platform for highly sensitive detection of CNAs, which was applied to sequencing data from more than 2,000 patients. Aims: To delineate a comprehensive landscape of CNAs in myeloid neoplasms and differential impacts of CNAs on clinical and biological phenotype. Methods: Whole‐exome
Background Copy-number alterations (CNAs) and gene mutations are hallmarks of cancer genomes, and they are implicated in the development of myeloid neoplasm. However, their relationships have not been fully examined. To address this issue, we have recently developed a novel, next-generation sequencing-based platform for copy-number analysis, which enabled us to detect mutations and CNAs simultaneously. We applied this platform to around 2,000 cases with myeloid neoplasms. Aims We aimed at deline
Clonal hematopoiesis (CH) associated with aging has been highlighted because it correlates not only with leukemia development, but also with non-malignant conditions, such as cardiovascular diseases and a variety of infectious diseases. Of particular interest of recent years among these CH-associated diseases is COVID-19. To date, significant associations have been reported between COVID-19 and CH-related mutations (including single nucleotide variations and small insertions and deletions) or co
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