PMID- 38433050
OWN - NLM
STAT- MEDLINE
DCOM- 20240305
LR  - 20240305
IS  - 0529-5807 (Print)
IS  - 0529-5807 (Linking)
VI  - 53
IP  - 3
DP  - 2024 Mar 8
TI  - [Detection of MDM2 gene amplification by fluorescence in situ hybridization and 
      its diagnostic value in low-grade osteosarcoma].
PG  - 237-242
LID - 10.3760/cma.j.cn112151-20231014-00263 [doi]
AB  - Objective: To investigate the diagnostic value of detecting MDM2 gene 
      amplification by fluorescence in situ hybridization (FISH) in low-grade 
      osteosarcoma (LGOS). Methods: Thirty cases of parosteal osteosarcoma (POS) and 14 
      cases of low-grade central osteosarcoma (LGCOS) from April 2009 to August 2022 at 
      Beijing Jishuitan Hospital, Capital Medical University were analyzed for the 
      presence of MDM2 gene amplification by FISH. Fifty-eight additional cases were 
      used as negative controls (including 28 cases of fibrous dysplasia, 5 cases of 
      giant cell tumor, 4 cases of conventional osteosarcoma, 2 cases each of 
      periosteal osteosarcoma, reparative changes after fracture, pleomorphic 
      undifferentiated sarcoma, low grade myofibroblastic sarcoma, fibrous dysplasia 
      with malignant transformation, one case each of leiomyosarcoma, sclerosing 
      epithelioid fibrosarcoma, malignant peripheral nerve sheath tumor, desmoplastic 
      fibroma of bone, solitary fibrous tumor, aneurysmal bone cyst, clear cell 
      chondrosarcoma, osteofibrous dysplasia, and 3 cases of unclassified spindle cell 
      tumor). Results: Among the 30 patients with POS, 15 were male and 15 were female, 
      ranging in age from 10 to 59 years (mean 35 years, median 30.5 years). Among the 
      14 patients with LGCOS, four were male and 10 were female, ranging in age from 15 
      to 56 years (mean 37 years, median 36 years). All except one case were 
      successfully detected by FISH. MDM2 gene amplification was detected in 27 cases 
      of POS (27/29,91.3%) and 8 cases of LGCOS (8/14). All the negative controls were 
      negative for MDM2 gene amplification. The positive rate of MDM2 gene 
      amplification was significantly different between the case group and the control 
      group (P<0.05). The sensitivity and specificity of MDM2 gene amplification in 
      diagnosing POS and LGCOS were 91.3% and 100.0%; and 57.1% and 100.0%, 
      respectively. The sensitivity and specificity of MDM2 gene amplification in 
      diagnosing LGOS (including POS and LGCOS) were 81.3% and 100.0%, respectively. In 
      cases where MDM2 gene was amplified, the MDM2 amplified signal was clustered. 
      Nine cases showed increased CEP12 signal different from polyploidy which was 
      displayed as small and weak signal points or cloud flocculent and cluster 
      signals. Conclusions: Detection of MDM2 gene amplification by FISH is a highly 
      sensitive and specific marker for LGOS. The interpretation criteria for FISH 
      detection of MDM2 amplification are currently not unified. The signal 
      characteristics need more attention when interpreting.
FAU - Li, L
AU  - Li L
AD  - Department of Pathology, Beijing Jishuitan Hospital, Capital Medical University, 
      Beijing 100035, China.
FAU - Zhang, M
AU  - Zhang M
AD  - Department of Pathology, Beijing Jishuitan Hospital, Capital Medical University, 
      Beijing 100035, China.
FAU - Dong, R F
AU  - Dong RF
AD  - Department of Pathology, Beijing Jishuitan Hospital, Capital Medical University, 
      Beijing 100035, China.
FAU - Su, Y B
AU  - Su YB
AD  - Department of Radiology, Beijing Jishuitan Hospital, Capital Medical University, 
      Beijing 100035, China.
FAU - Ding, Y
AU  - Ding Y
AD  - Department of Pathology, Beijing Jishuitan Hospital, Capital Medical University, 
      Beijing 100035, China.
LA  - chi
GR  - XKGG202205/Beijing Jishuitan Hospital Elite Young Scholar Program/
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Bing Li Xue Za Zhi
JT  - Zhonghua bing li xue za zhi = Chinese journal of pathology
JID - 0005331
RN  - EC 2.3.2.27 (MDM2 protein, human)
RN  - EC 2.3.2.27 (Proto-Oncogene Proteins c-mdm2)
SB  - IM
MH  - Humans
MH  - Female
MH  - Male
MH  - Child
MH  - Adolescent
MH  - Young Adult
MH  - Adult
MH  - Middle Aged
MH  - Gene Amplification
MH  - In Situ Hybridization, Fluorescence
MH  - *Osteosarcoma/diagnosis/genetics
MH  - *Sarcoma
MH  - *Fibrosarcoma
MH  - *Bone Neoplasms/diagnosis/genetics
MH  - Proto-Oncogene Proteins c-mdm2/genetics
EDAT- 2024/03/04 00:43
MHDA- 2024/03/05 06:47
CRDT- 2024/03/03 21:53
PHST- 2024/03/05 06:47 [medline]
PHST- 2024/03/04 00:43 [pubmed]
PHST- 2024/03/03 21:53 [entrez]
AID - 10.3760/cma.j.cn112151-20231014-00263 [doi]
PST - ppublish
SO  - Zhonghua Bing Li Xue Za Zhi. 2024 Mar 8;53(3):237-242. doi: 
      10.3760/cma.j.cn112151-20231014-00263.