PMID- 37042132
OWN - NLM
STAT- MEDLINE
DCOM- 20230413
LR  - 20230419
IS  - 1671-167X (Print)
IS  - 1671-167X (Linking)
VI  - 55
IP  - 2
DP  - 2023 Apr 18
TI  - [Clinical value of fluorescence in situ hybridization with MDM2 and DDIT3 probe 
      in diagnosis of liposarcoma].
PG  - 228-233
AB  - OBJECTIVE: To investigate the value of using MDM2 amplification probe and DDIT3 
      dual-color, break-apart rearrangement probe fluorescence in situ hybridization 
      (FISH) technique in the diagnosis of liposarcoma. METHODS: In the study, 62 cases 
      of liposarcoma diagnosed in Peking University First Hospital from January 2015 to 
      December 2019 were analysed for clinicopathological information. Of these 62 
      cases of liposarcoma, all were analysed for MDM2 amplification and 48 cases were 
      analysed for DDIT3 rearrangement using a FISH technique. Our study aimed to 
      evaluate the status of MDM2 and DDIT3 by FISH in liposarcoma and correlate it 
      with diagnosis of different subtypes of liposarcoma. The subtypes of liposarcoma 
      were classified according to the FISH results, combined with the relevant 
      clinicopathological features. RESULTS: The patients aged 31-89 years (mean: 59 
      years) with a 1.75:1 male to female ratio. Histologically, there were 20 cases of 
      atypical lipomatous tumour/well-differentiated liposarcoma (ALT/WDLPS), 26 cases 
      of dedifferentiated liposarcoma (DDLPS), 13 myxoid liposarcoma (MLPS) and 3 
      pleomorphic liposarcoma (PLPS). Tumors with DDLPS (23/26) and WDLPS (8/20) were 
      localized retroperitoneally, while both tumours of MLPS and PLPS were localized 
      extra-retroperitoneally, and the difference of sites among the four subtypes of 
      liposarcoma was statistically significant (P < 0.05). Histologically, varied 
      mucoid matrix could be observed in the four subtypes of liposarcoma, and the 
      difference was statistically significant (P < 0.05). MDM2 gene amplification was 
      demonstrated in all cases of ALT/WDLPS and DDLPS (100%, 20/20 and 26/26 
      respectively); DDIT3 gene rearrangement was noted only in MLPS (100%, 13/13); 
      most cases of DDLPS (96.2%, 25/26) and ALT/WDLPS (83.3%, 5/6, 6 cases selected 
      for detection) demonstrated the picture of amplification of the DDIT3 telomeric 
      tag. According to the instructions of DDIT3 break-apart rearrangement probe, the 
      5' telomere probe and 3' centromere probe spanned but did not cover the DDIT3 
      gene itself, on the contrary, the 5' telomere probe covered the CDK4 gene, while 
      the DDIT3 and CDK4 gene were located adjacent to each other on chromosome, 
      therefore, when the amplification signal appeared on the telomeric tag of the 
      DDIT3 rearrangement probe, it indeed indicated the CDK4 gene amplification rather 
      than the DDIT3 gene rearrangement. Then the 10 cases with DDIT3 telomeric tag 
      amplification were selected for CDK4 and DDIT3 gene amplification probe FISH 
      tests, and all the cases showed CDK4 gene amplification (100%, 10/10) and two of 
      the 10 cases demonstrated co-amplification of CDK4 and DDIT3 (20%, 2/10); DDIT3 
      polysomy detected by DDIT3 gene rearrangement probe was found in 1 case of DDLPS 
      and 2 cases of PLPS (66.7%, 2/3) with morphology of high-grade malignant tumour 
      and poor prognosis. CONCLUSION: Our results indicate that a diagnosis of 
      different subtype liposarcoma could be confirmed based on the application of MDM2 
      and DDIT3 FISH, combined with clinicopathological findings. It is also noteworthy 
      that atypical signals should be correctly interpreted to guide correct treatment 
      of liposarcomas.
FAU - Wang, W
AU  - Wang W
AD  - Department of Pathology, Peking University First Hospital, Beijing 100034, China.
FAU - Li, X
AU  - Li X
AD  - Department of Pathology, Peking University First Hospital, Beijing 100034, China.
FAU - Liu, P
AU  - Liu P
AD  - Department of Pathology, Peking University First Hospital, Beijing 100034, China.
FAU - Dong, Y
AU  - Dong Y
AD  - Department of Pathology, Peking University First Hospital, Beijing 100034, China.
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Beijing Da Xue Xue Bao Yi Xue Ban
JT  - Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health 
      sciences
JID - 101125284
RN  - EC 2.7.11.22 (Cyclin-Dependent Kinase 4)
RN  - 0 (DDIT3 protein, human)
RN  - 147336-12-7 (Transcription Factor CHOP)
RN  - EC 2.3.2.27 (MDM2 protein, human)
RN  - EC 2.3.2.27 (Proto-Oncogene Proteins c-mdm2)
SB  - IM
MH  - Male
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Cyclin-Dependent Kinase 4/analysis/genetics/metabolism
MH  - *Liposarcoma/diagnosis/genetics/pathology
MH  - *Lipoma/diagnosis/genetics/pathology
MH  - Gene Amplification
MH  - Transcription Factor CHOP/genetics
MH  - Proto-Oncogene Proteins c-mdm2/analysis/genetics/metabolism
PMC - PMC10091265
OTO - NOTNLM
OT  - DDIT3 gene
OT  - In situ hybridization, fluorescence
OT  - Liposarcoma
OT  - MDM2 gene
EDAT- 2023/04/13 06:00
MHDA- 2023/04/13 06:42
PMCR- 2023/04/18
CRDT- 2023/04/12 03:23
PHST- 2023/04/13 06:42 [medline]
PHST- 2023/04/12 03:23 [entrez]
PHST- 2023/04/13 06:00 [pubmed]
PHST- 2023/04/18 00:00 [pmc-release]
AID - bjdxxbyxb-55-2-228 [pii]
AID - 10.19723/j.issn.1671-167X.2023.02.005 [doi]
PST - ppublish
SO  - Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Apr 18;55(2):228-233. doi: 
      10.19723/j.issn.1671-167X.2023.02.005.