Kyoto University · 의학
류노스케 사이키 교수의 연구실은 고령화와 관련된 클론성 혈액학적 변화(클론성 혈액학, CH)와 그 유전적 기반, 특히 단일염기변이 및 복수형질변이(복수형질변이, CNA) 백혈병 및 심혈관 질환 등 다양한 질환과 어떻게 연관되는지를 중심으로 연구합니다. 특히 전장 염기서열 분석 기반의 고감도 CNA 탐지 플랫폼을 개발하여, 만성골수성질환, 골수이형성증후군, 급성 골수성백혈병 등 다양한 골수성 혈액암에서의 유전자 이상의 종합적 분석을 수행하고 있습니다. 최근에는 코로나19와의 연관성 등 비종양성 질환과의 연관성까지 확장하여, CH의 전반적 영향을 다각도로 규명하고 있습니다.
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
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
