PMID- 38387895
OWN - NLM
STAT- MEDLINE
DCOM- 20240226
LR  - 20240226
IS  - 1009-2137 (Print)
IS  - 1009-2137 (Linking)
VI  - 32
IP  - 1
DP  - 2024 Feb
TI  - [Clinical Significance of Genetic and Molecular Changes in Primary Myeloid 
      Sarcoma].
PG  - 27-32
LID - 10.19746/j.cnki.issn.1009-2137.2024.01.005 [doi]
AB  - OBJECTIVE: To investigate the clinical significance of genetic and molecular 
      changes in primary myeloid sarcoma (MS). METHODS: Fourteen patients with primary 
      MS were selected in Jiading District Central Hospital Affiliated Shanghai 
      University of Medicine & Health Sciences, The First People's Hospital of 
      Lianyungang from September 2010 to December 2021. AML1-ETO fusion, PML-RARalpha 
      fusion and CBFbeta breakage were detected by fluorescence in situ hybridization 
      (FISH), and the mutations of NPM1, CEBPA, FLT3, RUNX1, ASXL1, KIT and TP53 genes 
      were detected by new generation sequencing (NGS). RESULTS: Among 14 patients, the 
      MS occurred in bone, breast, epididymis, lung, chest wall, cervix, small 
      intestine, ovary, lymph nodes and central nervous system. The tumor cells 
      expressed MPO (13 cases), CD34 (7 cases), CD43 (8 cases), CD68 (7 cases), CD99 (8 
      cases) and CD117 (6 cases). Cytogenetic abnormalities were observed in 4 cases, 
      including 3 cases of AML1-ETO fusion and 1 case of CBFbeta breakage, while no 
      PML-RARalpha fusion was detected. There were no significant differences in overall 
      survival (OS) and leukemia-free survival (LFS) between patients with and without 
      AML1-ETO fusion/CBFbeta breakage (both P >0.05). Among the 14 patients, the number 
      of NPM1, CEBPA, FLT3-ITD, RUNX1, ASXL1, KIT and TP53 gene mutations was 5, 3, 5, 
      3, 2, 2, 1, respectively, of which 7 cases had at least one mutation in FLT3-ITD, 
      RUNX1, ASXL1 and TP53 gene. The OS and LFS of patients with FLT3-ITD, RUNX1, 
      ASXL1 or TP53 mutation were shorter than those without mutations (both P <0.01). 
      CONCLUSION: The genetic and molecular abnormalities of primary MS can be detected 
      by FISH and NGS techniques. FLT3-ITD, RUNX1, ASXL1 or TP53 mutation indicates a 
      worse prognosis, but further clinical studies are needed to confirm it.
FAU - Jiang, Ya-Jun
AU  - Jiang YJ
AD  - Department of Hematology, Jiading District Central Hospital Affiliated Shanghai 
      University of Medicine & Health Sciences, Shanghai 201800, China.
FAU - Zhang, Chun-Fang
AU  - Zhang CF
AD  - Department of Pathology, The First People's Hospital of Lianyungang, Lianyungang 
      222002, Jiangsu Province, China.
FAU - Wang, Hong-Xia
AU  - Wang HX
AD  - Department of Pathology, Jiading District Central Hospital Affiliated Shanghai 
      University of Medicine & Health Sciences, Shanghai 201800, China.E-mail: 
      jiangyajun-2001@163.com.
FAU - Zhao, Lan
AU  - Zhao L
AD  - Department of Hematology, Jiading District Central Hospital Affiliated Shanghai 
      University of Medicine & Health Sciences, Shanghai 201800, China.
FAU - Zhang, Fei-Fei
AU  - Zhang FF
AD  - Department of Hematology, Jiading District Central Hospital Affiliated Shanghai 
      University of Medicine & Health Sciences, Shanghai 201800, China.
FAU - Han, Xiu-Hua
AU  - Han XH
AD  - Department of Hematology, Jiading District Central Hospital Affiliated Shanghai 
      University of Medicine & Health Sciences, Shanghai 201800, China.
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhongguo Shi Yan Xue Ye Xue Za Zhi
JT  - Zhongguo shi yan xue ye xue za zhi
JID - 101084424
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 117896-08-9 (Nucleophosmin)
SB  - IM
MH  - Male
MH  - Female
MH  - Humans
MH  - *Core Binding Factor Alpha 2 Subunit/genetics
MH  - Nucleophosmin
MH  - Clinical Relevance
MH  - In Situ Hybridization, Fluorescence
MH  - *Sarcoma, Myeloid
MH  - China
OTO - NOTNLM
OT  - genetics
OT  - immunohistochemistry
OT  - molecular biology
OT  - myeloid sarcoma
OT  - prognosis
EDAT- 2024/02/23 00:42
MHDA- 2024/02/26 06:44
CRDT- 2024/02/22 20:23
PHST- 2024/02/26 06:44 [medline]
PHST- 2024/02/23 00:42 [pubmed]
PHST- 2024/02/22 20:23 [entrez]
AID - 1009-2137(2024)01-27-006 [pii]
AID - 10.19746/j.cnki.issn.1009-2137.2024.01.005 [doi]
PST - ppublish
SO  - Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Feb;32(1):27-32. doi: 
      10.19746/j.cnki.issn.1009-2137.2024.01.005.