PMID- 36744846
OWN - NLM
STAT- MEDLINE
DCOM- 20230411
LR  - 20230411
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 62
IP  - 6
DP  - 2023 Jun
TI  - MDM4 amplification in atypical lipomatous tumors/well-differentiated liposarcoma: 
      Private event or alternative oncogenic mechanism?
PG  - 367-372
LID - 10.1002/gcc.23130 [doi]
AB  - Adipocytic tumors are the most common mesenchymal tumors in soft tissues. Among 
      them, a diagnostic challenge relies in the distinction between lipoma and 
      atypical lipomatous tumor (ALT)/well differentiated liposarcoma (WDLPS), as both 
      entities are often undistinguishable not only from a radiological point of view, 
      but also at the microscopic level and particularly when dealing with small tumor 
      specimen. Thus, detection of recurrent MDM2 amplifications may be the only 
      criteria to discriminate malignant tumors from lipomas. In this study, we report 
      the case of a patient diagnosed with a well differentiated, adipocytic tumor 
      located in the inferior limb and lacking MDM2 amplification, whose diagnosis was 
      reclassified for ALT/WDLPS after identification of an alternative MDM4 
      amplification by comparative genomic hybridization profiling, whole exome 
      sequencing and fluorescence in situ hybridization (FISH). Screening of a cohort 
      of 37 large, deep-seated, well-differentiated adipocytic tumors previously 
      classified as lipomas using RT-qPCR and FISH failed to detect other cases of 
      MDM4-amplified ALT/WDLPS. This report shows that MDM4 amplification is an 
      exceptional molecular event alternative to MDM2 amplification in ALT/WDLPS. This 
      alteration should be considered and looked for in suspicious adipocytic tumors to 
      optimize their surgical management.
CI  - (c) 2023 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals 
      LLC.
FAU - Gruel, Nadege
AU  - Gruel N
AD  - INSERM U830, Equipe Labellisee Ligue Nationale Contre le Cancer, Diversity and 
      Plasticity of Childhood Tumors Lab, PSL Research University, Institut Curie 
      Research Center, Paris, France.
AD  - Department of Translationnal Research, Institut Curie Research Center, Paris, 
      France.
FAU - El Zein, Sophie
AU  - El Zein S
AD  - Department of Diagnostic and Theranostic Medecine, Institut Curie Hospital, 
      Paris, France.
FAU - Tzanis, Dimitri
AU  - Tzanis D
AD  - Department of Surgical Oncology, Institut Curie Hospital, Paris, France.
FAU - Nicolas, Nayla
AU  - Nicolas N
AD  - Department of Radiology, Institut Curie Hospital, Paris, France.
FAU - Maraval, Aurelien
AU  - Maraval A
AD  - INSERM U830, Equipe Labellisee Ligue Nationale Contre le Cancer, Diversity and 
      Plasticity of Childhood Tumors Lab, PSL Research University, Institut Curie 
      Research Center, Paris, France.
FAU - Fieffe, Christelle
AU  - Fieffe C
AD  - INSERM U830, Equipe Labellisee Ligue Nationale Contre le Cancer, Diversity and 
      Plasticity of Childhood Tumors Lab, PSL Research University, Institut Curie 
      Research Center, Paris, France.
FAU - Bonvalot, Sylvie
AU  - Bonvalot S
AD  - Department of Surgical Oncology, Institut Curie Hospital, Paris, France.
FAU - Caly, Martial
AU  - Caly M
AD  - Department of Diagnostic and Theranostic Medecine, Institut Curie Hospital, 
      Paris, France.
FAU - Fuhrmann, Laetitia
AU  - Fuhrmann L
AD  - Department of Diagnostic and Theranostic Medecine, Institut Curie Hospital, 
      Paris, France.
FAU - Ait Rais, Khadija
AU  - Ait Rais K
AD  - Somatic Genetic Unit, Department of Genetics, Institut Curie Hospital, Paris, 
      France.
FAU - Jovelin, Sylvie
AU  - Jovelin S
AD  - Department of Diagnostic and Theranostic Medecine, Institut Curie Hospital, 
      Paris, France.
FAU - Bonnet, Clement
AU  - Bonnet C
AD  - Department of Medical Oncology, Institut Curie Hospital, Paris, France.
FAU - Pierron, Gaelle
AU  - Pierron G
AD  - Somatic Genetic Unit, Department of Genetics, Institut Curie Hospital, Paris, 
      France.
FAU - Watson, Sarah
AU  - Watson S
AUID- ORCID: 0000-0003-4534-8783
AD  - INSERM U830, Equipe Labellisee Ligue Nationale Contre le Cancer, Diversity and 
      Plasticity of Childhood Tumors Lab, PSL Research University, Institut Curie 
      Research Center, Paris, France.
AD  - Department of Medical Oncology, Institut Curie Hospital, Paris, France.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230221
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - EC 2.3.2.27 (Proto-Oncogene Proteins c-mdm2)
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (MDM4 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Cell Cycle Proteins)
SB  - IM
MH  - Humans
MH  - *Liposarcoma/diagnosis/genetics/pathology
MH  - Gene Amplification
MH  - In Situ Hybridization, Fluorescence
MH  - Comparative Genomic Hybridization
MH  - Proto-Oncogene Proteins c-mdm2/genetics/metabolism
MH  - *Lipoma/diagnosis/genetics/pathology
MH  - Biomarkers, Tumor/genetics
MH  - Proto-Oncogene Proteins/genetics
MH  - Cell Cycle Proteins/genetics
OTO - NOTNLM
OT  - MDM4
OT  - amplification
OT  - atypical lipomatous tumor
OT  - lipoma
OT  - well differentiated liposarcoma
EDAT- 2023/02/07 06:00
MHDA- 2023/04/11 06:42
CRDT- 2023/02/06 08:43
PHST- 2023/01/28 00:00 [revised]
PHST- 2023/01/05 00:00 [received]
PHST- 2023/01/31 00:00 [accepted]
PHST- 2023/04/11 06:42 [medline]
PHST- 2023/02/07 06:00 [pubmed]
PHST- 2023/02/06 08:43 [entrez]
AID - 10.1002/gcc.23130 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2023 Jun;62(6):367-372. doi: 10.1002/gcc.23130. Epub 
      2023 Feb 21.