PMID- 30929389 OWN - NLM STAT- MEDLINE DCOM- 20190410 LR - 20200717 IS - 0253-2727 (Print) IS - 2707-9740 (Electronic) IS - 0253-2727 (Linking) VI - 40 IP - 3 DP - 2019 Mar 14 TI - [Clinical implications and prognostic value of TP53 gene mutation and deletion in patients with myelodysplastic syndromes]. PG - 215-221 LID - 10.3760/cma.j.issn.0253-2727.2019.03.010 [doi] AB - Objective: To explore the clinical implications and prognostic value of TP53 gene mutation and deletion in patients with myelodysplastic syndromes (MDS) . Methods: 112-gene targeted sequencing and interphase fluorescence in situ hybridization (FISH) were used to detect TP53 mutation and deletion in 584 patients with newly diagnosed primary MDS who were admitted from October 2009 to December 2017. The association of TP53 mutation and deletion with several clinical features and their prognostic significance were analyzed. Results: Alterations in TP53 were found in 42 (7.2%) cases. Of these, 31 (5.3%) cases showed TP53 mutation only, 8 (1.4%) cases in TP53 deletion only, 3 (0.5%) cases harboring both mutation and deletion. A total of 37 mutations were detected in 34 patients, most of them (94.6%) were located in the DNA binding domain (exon5-8) , the remaining 2 were located in exon 10 and splice site respectively. Patients with TP53 alterations harbored significantly more mutations than whom without alterations (z=-2.418, P=0.016) . The median age of patients with TP53 alterations was higher than their counterparts[60 (21-78) years old vs 52 (14-83) years old, z=-2.188, P=0.029]. TP53 alterations correlated with complex karyotype and International prognostic scoring system intermediate-2/high significantly (P<0.001) . Median overall survival of patients with TP53 alterations was shorter than the others[13 (95%CI 7.57-18.43) months vs not reached, chi(2)=12.342, P<0.001], while the significance was lost during complex karyotype adjusted analysis in multivariable model. Conclusion: TP53 mutation was more common than deletion in MDS patients. The majority of mutations were located in the DNA binding domain. TP53 alterations were strongly associated with complex karyotype and always coexisted with other gene mutations. TP53 alteration was no longer an independent prognostic factor when complex karyotype were occurred in MDS. FAU - Huang, H J AU - Huang HJ AD - Institute of Hematology and Blood Diseases Hospital CAMS & PUMC, The State Key Laboratory of Experimental Hematology, Tianjin 300020, China. FAU - Shi, Z X AU - Shi ZX FAU - Li, B AU - Li B FAU - Qin, T J AU - Qin TJ FAU - Xu, Z F AU - Xu ZF FAU - Zhang, H L AU - Zhang HL FAU - Fang, L W AU - Fang LW FAU - Hu, N B AU - Hu NB FAU - Pan, L J AU - Pan LJ FAU - Qu, S Q AU - Qu SQ FAU - Liu, D AU - Liu D FAU - Cai, Y N AU - Cai YN FAU - Zhang, Y D AU - Zhang YD FAU - Xiao, Z J AU - Xiao ZJ LA - chi GR - 81870104, 81530008, 81470297, 81770129/National Natural Science Foundation of China/ GR - 18JCZDJC34900/Tianjin Key Natural Science Funds/ GR - 2016-I2M-1-001/CAMS Initiative Fund for Medical Sciences/ PT - Journal Article PL - China TA - Zhonghua Xue Ye Xue Za Zhi JT - Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi JID - 8212398 RN - 0 (TP53 protein, human) RN - 0 (Tumor Suppressor Protein p53) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - *Genes, p53 MH - Humans MH - In Situ Hybridization, Fluorescence MH - Middle Aged MH - Mutation MH - *Myelodysplastic Syndromes/genetics MH - Prognosis MH - Tumor Suppressor Protein p53 MH - Young Adult PMC - PMC7342541 OTO - NOTNLM OT - Deletion OT - Mutation OT - Myelodysplastic syndromes OT - Prognosis OT - TP53 gene EDAT- 2019/04/02 06:00 MHDA- 2019/04/11 06:00 PMCR- 2019/03/01 CRDT- 2019/04/01 06:00 PHST- 2019/04/01 06:00 [entrez] PHST- 2019/04/02 06:00 [pubmed] PHST- 2019/04/11 06:00 [medline] PHST- 2019/03/01 00:00 [pmc-release] AID - cjh-40-03-215 [pii] AID - 10.3760/cma.j.issn.0253-2727.2019.03.010 [doi] PST - ppublish SO - Zhonghua Xue Ye Xue Za Zhi. 2019 Mar 14;40(3):215-221. doi: 10.3760/cma.j.issn.0253-2727.2019.03.010.