Page 133 - 南京医科大学学报自然科学版

第44卷第2期 南京医科大学学报（自然科学版）
2024年2月 Journal of Nanjing Medical University（Natural Sciences） ·271 ·

·综 述·

伴TP53基因异常骨髓增生异常肿瘤的临床研究进展

陈百川，黄慧君，沈文怡 *
南京医科大学第一附属医院血液科，江苏 南京 210029

［摘 要］ 骨髓增生异常肿瘤（myelodysplastic neoplasms，MDS）患者的预后与其细胞遗传学和分子遗传学特征密切相关，
TP53基因作为MDS最常见的突变基因之一，其异常是MDS独立的不良预后因素以及向急性髓系白血病（acute myeloid leuke⁃
mia，AML）转化的危险因素之一。新近更新的第5版世界卫生组织血液淋巴肿瘤分类标准（the 5th edition of the who classifica⁃
tion of haematolymphoid tumours，WHO 2022）以及髓系肿瘤和急性白血病的国际共识分类（international consensus classification
of myeloid neoplasms and acute leukemia，ICC）将伴有TP53双等位基因失活（biallelic TP53 inactivation，biTP53）的MDS作为独立
的亚型列出，该亚型患者预后极差，生存期极短。目前针对伴TP53基因异常的MDS患者的治疗尚未能有效改善该类患者预
后，新型靶向药物、免疫治疗等均在探索中，本文就国内外对伴TP53基因异常的MDS的临床研究进展进行综述。
［关键词］ 骨髓增生异常肿瘤；TP53；预后；治疗
［中图分类号］ R733.3 ［文献标志码］ A ［文章编号］ 1007⁃4368（2024）02⁃271⁃06
doi：10.7655/NYDXBNSN230864

Clinical research progress on myelodysplastic neoplasms with TP53 gene abnormalities

CHEN Baichuan，HUANG Huijun，SHEN Wenyi *
Department of Hematology，the First Affiliated Hospital of Nanjing Medical University，Nanjing 210029，China

［Abstract］ The prognosis of patients with myelodysplastic neoplasms（MDS）is closely linked to their cytogenetic and molecular
genetic characteristics. Among the most prevalent genetic mutations in MDS，the TP53 gene abnormalities stand out as an independent
adverse prognostic factor for MDS and a significant risk factor for the progression to acute myeloid leukemia（AML）. The recently
updated 5th edition of the WHO classification of haematolymphoid tumours（WHO 2022）and international consensus classification of
myeloid neoplasms and acute leukemia（ICC）recognizes MDS with TP53 biallelic inactivation（biTP53）as a distinct and independent
subtype. Patients within this subtype face an exceedingly grim prognosis with an extremely short survival period. Currently，available
treatments for MDS patients with TP53 gene abnormalities have proven ineffective in improving their prognosis. Consequently，there is
a growing focus on exploring new avenues such as targeted therapies and immunotherapy. This article provides an in⁃depth review of
the progress in clinical research related to MDS with TP53 gene abnormalities，both within domestic and international contexts.
［Key words］ myelodysplastic neoplasms；TP53；prognosis；treatment
［J Nanjing Med Univ，2024，44（02）：271⁃276］

骨髓增生异常肿瘤（myelodysplastic neoplasms， （acute myeloid leukemia，AML）转化的高风险。第 5
MDS）是一组起源于造血干细胞的异质性髓系克隆 版世界卫生组织血液淋巴肿瘤分类标准（the 5th
性疾病，其特征是髓系细胞发育异常，表现为无效 edition of the who classification of haematolymphoid tu⁃
造血、难治性血细胞减少和向急性髓系白血病 mours，WHO 2022）以及急性白血病的国际共识分类

（international consensus classification of myeloid neo⁃
［基金项目］ 江苏省卫计委项目（Z201402）；国家自然科学基 plasms and acute leukemia，ICC）诊断标准均将 TP53
金（81400079）；江苏省六大人才高峰（WSN⁃026） 等位基因状态纳入MDS的分型诊断标准中，并将伴
∗
通信作者（Corresponding author），E⁃mail：bangbangswy@163.com 有 TP53 双等位基因失活（biallelic TP53 inactivia⁃