TP53突变骨髓增生异常和急性髓性白血病

IF 2 4区 医学 Q3 HEMATOLOGY Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-07-01 eCollection Date: 2023-01-01 DOI:10.4084/MJHID.2023.038
Ugo Testa, Germana Castelli, Elvira Pelosi
{"title":"TP53突变骨髓增生异常和急性髓性白血病","authors":"Ugo Testa, Germana Castelli, Elvira Pelosi","doi":"10.4084/MJHID.2023.038","DOIUrl":null,"url":null,"abstract":"<p><p>TP53-mutated myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) form a distinct and heterogeneous group of myeloid malignancies associated with poor outcomes. Studies carried out in the last years have in part elucidated the complex role played by TP53 mutations in the pathogenesis of these myeloid disorders and in the mechanisms of drug resistance. A consistent number of studies has shown that some molecular parameters, such as the presence of a single or multiple TP53 mutations, the presence of concomitant TP53 deletions, the association with co-occurring mutations, the clonal size of TP53 mutations, the involvement of a single (monoallelic) or of both TP53 alleles (biallelic) and the cytogenetic architecture of concomitant chromosome abnormalities are major determinants of outcomes of patients. The limited response of these patients to standard treatments, including induction chemotherapy, hypomethylating agents and venetoclax-based therapies and the discovery of an immune dysregulation have induced a shift to new emerging therapies, some of which being associated with promising efficacy. The main aim of these novel immune and nonimmune strategies consists in improving survival and in increasing the number of TP53-mutated MDS/AML patients in remission amenable to allogeneic stem cell transplantation.</p>","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"15 1","pages":"e2023038"},"PeriodicalIF":2.0000,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/87/c9/mjhid-15-1-e2023038.PMC10332352.pdf","citationCount":"0","resultStr":"{\"title\":\"TP53-Mutated Myelodysplasia and Acute Myeloid Leukemia.\",\"authors\":\"Ugo Testa, Germana Castelli, Elvira Pelosi\",\"doi\":\"10.4084/MJHID.2023.038\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>TP53-mutated myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) form a distinct and heterogeneous group of myeloid malignancies associated with poor outcomes. Studies carried out in the last years have in part elucidated the complex role played by TP53 mutations in the pathogenesis of these myeloid disorders and in the mechanisms of drug resistance. A consistent number of studies has shown that some molecular parameters, such as the presence of a single or multiple TP53 mutations, the presence of concomitant TP53 deletions, the association with co-occurring mutations, the clonal size of TP53 mutations, the involvement of a single (monoallelic) or of both TP53 alleles (biallelic) and the cytogenetic architecture of concomitant chromosome abnormalities are major determinants of outcomes of patients. The limited response of these patients to standard treatments, including induction chemotherapy, hypomethylating agents and venetoclax-based therapies and the discovery of an immune dysregulation have induced a shift to new emerging therapies, some of which being associated with promising efficacy. The main aim of these novel immune and nonimmune strategies consists in improving survival and in increasing the number of TP53-mutated MDS/AML patients in remission amenable to allogeneic stem cell transplantation.</p>\",\"PeriodicalId\":18498,\"journal\":{\"name\":\"Mediterranean Journal of Hematology and Infectious Diseases\",\"volume\":\"15 1\",\"pages\":\"e2023038\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2023-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/87/c9/mjhid-15-1-e2023038.PMC10332352.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Mediterranean Journal of Hematology and Infectious Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4084/MJHID.2023.038\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Mediterranean Journal of Hematology and Infectious Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4084/MJHID.2023.038","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

TP53突变的骨髓增生异常综合征(MDS)和急性髓性白血病(AML)是一类与不良预后相关的独特的异质性骨髓恶性肿瘤。过去几年的研究在一定程度上阐明了 TP53 突变在这些髓系疾病的发病机制和耐药机制中所扮演的复杂角色。大量研究表明,一些分子参数,如是否存在单个或多个 TP53 基因突变、是否同时存在 TP53 基因缺失、与共存突变的关联性、TP53 基因突变的克隆大小、单个(单等位基因)或两个 TP53 等位基因(双等位基因)的参与以及同时存在染色体异常的细胞遗传学结构等,是决定患者预后的主要因素。这些患者对标准疗法(包括诱导化疗、低甲基化药物和基于 Venetoclax 的疗法)的反应有限,加上免疫失调的发现,促使人们转向新兴疗法,其中一些疗法的疗效令人鼓舞。这些新型免疫和非免疫疗法的主要目的是提高患者的生存率,并增加TP53突变MDS/AML患者的数量,使其病情得到缓解,适合进行异基因干细胞移植。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

摘要图片

摘要图片

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
TP53-Mutated Myelodysplasia and Acute Myeloid Leukemia.

TP53-mutated myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) form a distinct and heterogeneous group of myeloid malignancies associated with poor outcomes. Studies carried out in the last years have in part elucidated the complex role played by TP53 mutations in the pathogenesis of these myeloid disorders and in the mechanisms of drug resistance. A consistent number of studies has shown that some molecular parameters, such as the presence of a single or multiple TP53 mutations, the presence of concomitant TP53 deletions, the association with co-occurring mutations, the clonal size of TP53 mutations, the involvement of a single (monoallelic) or of both TP53 alleles (biallelic) and the cytogenetic architecture of concomitant chromosome abnormalities are major determinants of outcomes of patients. The limited response of these patients to standard treatments, including induction chemotherapy, hypomethylating agents and venetoclax-based therapies and the discovery of an immune dysregulation have induced a shift to new emerging therapies, some of which being associated with promising efficacy. The main aim of these novel immune and nonimmune strategies consists in improving survival and in increasing the number of TP53-mutated MDS/AML patients in remission amenable to allogeneic stem cell transplantation.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
4.20
自引率
6.20%
发文量
113
审稿时长
12 weeks
期刊介绍: Reciprocal interdependence between infectious and hematologic diseases (malignant and non-malignant) is well known. This relationship is particularly evident in Mediterranean countries. Parasitosis as Malaria, Leishmaniosis, B Hookworms, Teniasis, very common in the southeast Mediterranean area, infect about a billion people and manifest prevalently with anemia so that they are usually diagnosed mostly by experienced hematologist on blood or bone marrow smear. On the other hand, infections are also a significant problem in patients affected by hematological malignancies. The blood is the primary vector of HIV infection, which otherwise manifest with symptoms related to a reduction in T lymphocytes. In turn, infections can favor the insurgency of hematological malignancies. The causative relationship between Epstein-Barr virus infection, Helicobacter pylori, hepatitis C virus, HIV and lymphoproliferative diseases is well known.
期刊最新文献
Chimeric Antigen Receptor T Cells for the Treatment of Multiple Myeloma. Effects of Thalidomide on Endothelial Activation and Stress Index in Children with β-Thalassemia Major. Older Adults with Ph Negative Acute Lymphoblastic Leukemia: A Monocentric Experience on 57 Patients Focusing on Treatment Intensity and Age-Related Prognosis. Oral Iron-Hydroxide Polymaltose Complex Versus Sucrosomial Iron for Children with Iron Deficiency with or without Anemia: A Clinical Trial with Emphasis on Intestinal Inflammation. The Performance of 2023 American College of Rheumatology (ACR) / European Alliance of Associations for Rheumatology (EULAR) Antiphospholipid Syndrome Classification Criteria in a Real-World Rheumatology Department.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1