PMID- 31055804 OWN - NLM STAT- MEDLINE DCOM- 20190813 LR - 20211204 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 36 IP - 6 DP - 2019 Jun 10 TI - [Characterizing the molecular cytogenetics in acute monocytic leukemia]. PG - 556-560 LID - 10.3760/cma.j.issn.1003-9406.2019.06.006 [doi] AB - OBJECTIVE: To characterize the molecular genetics of 81 patients with acute monocytic leukemia (AML). METHODS: Fluorescence in situ hybridization (FISH) was employed to detect MLL gene rearrangements. Combined mutations of 17 genes were detected by DNA-based PCR and Sanger sequencing. RESULTS: Sixty seven patients were found to harbor at least one mutation. The most commonly mutated gene was NPM1 (n=18), which was followed by FLT3-ITD (n=16), NRAS (n=16), DNMT3A (n=15), TET2 (n=12), RUNX1 (n=11) and KRAS (n=9). Based on the functions of mutated genes, the most frequently involved genes were those involved in DNA methylation (38.27%), tyrosine kinase receptor signaling (32.1%), transcription regulation (28.4%), and RAS pathway (24.7%). Single gene mutation predominated in patient with cytogenetic abnormalities, while coexistence of 2 mutations have predominated in patient with normal cytogenetic findings. Stratified by cytogenetic findings, patients with single gene mutations (intermediate-risk group) had significantly higher complete remission (CR) rates than those with >/=2 gene mutations (unfavorable-risk group) (91.7% vs. 57.6% , 87.5% vs. 25.0%, P =0.0319, 0.0117, respectively). CONCLUSION: Over 80% of AML patients were found to harbor at least one mutation. Their clinical phenotype and prognosis may be impacted by the synergy of MLL gene rearrangement and multiple mutations. For patients under the same risk stratification, the number of mutations is reversely correlated with the CR rate. FAU - Zhou, Feng AU - Zhou F AD - Department of Hematology, Changzhou Second People's Hospital Affiliated to Nanjing Medical University, Changzhou, Jiangsu 213003, China. Email: chaohy2006@126.com. FAU - Chao, Hongying AU - Chao H FAU - Lu, Xuzhang AU - Lu X FAU - Chen, Tao AU - Chen T FAU - Yang, Jianhe AU - Yang J FAU - Jiang, Naike AU - Jiang N FAU - Cen, Ling AU - Cen L FAU - Zhou, Min AU - Zhou M LA - chi PT - Journal Article PL - China TA - Zhonghua Yi Xue Yi Chuan Xue Za Zhi JT - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JID - 9425197 RN - 0 (NPM1 protein, human) RN - 117896-08-9 (Nucleophosmin) RN - EC 2.7.10.1 (fms-Like Tyrosine Kinase 3) MH - Cytogenetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - *Leukemia, Monocytic, Acute MH - *Leukemia, Myeloid, Acute MH - Mutation MH - Nucleophosmin MH - Prognosis MH - fms-Like Tyrosine Kinase 3 EDAT- 2019/05/06 06:00 MHDA- 2019/08/14 06:00 CRDT- 2019/05/06 06:00 PHST- 2019/05/06 06:00 [entrez] PHST- 2019/05/06 06:00 [pubmed] PHST- 2019/08/14 06:00 [medline] AID - 940636109 [pii] AID - 10.3760/cma.j.issn.1003-9406.2019.06.006 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):556-560. doi: 10.3760/cma.j.issn.1003-9406.2019.06.006.