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
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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。
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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.

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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.
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