PMID- 33734108
OWN - NLM
STAT- MEDLINE
DCOM- 20220204
LR  - 20230922
IS  - 1533-4058 (Electronic)
IS  - 1533-4058 (Linking)
VI  - 29
IP  - 8
DP  - 2021 Sep 1
TI  - Clinical Application of Chromosome Microarray Analysis in the Diagnosis of 
      Lipomatous Tumors.
PG  - 592-598
LID - 10.1097/PAI.0000000000000923 [doi]
AB  - Well-differentiated liposarcoma/atypical lipomatous tumor (WDLS/ALT) and 
      dedifferentiated liposarcoma (DDLS) have characteristic supernumerary ring and 
      giant marker chromosomes involving the chromosomal region 12q13-15 which contains 
      MDM2 (12q15), CDK4 (12q14.1), HMGA2 (12q14.3), YEATS4 (12q15), CPM (12q15), and 
      FRS2 (12q15). Detecting MDM2 amplification by fluorescence in situ hybridization 
      (FISH) is considered to be the gold standard for the diagnosis of WDLS/ALT and 
      DDLS. In this study, formalin fixed paraffin embedded clinical specimens (16 
      liposarcomas and 19 benign lipomatous tumors) were used to detect MDM2 
      amplification and other chromosomal alterations in WDLS/ALT and DDLS by single 
      nucleotide polymorphism-based chromosome microarray (CMA). All 16 liposarcomas 
      showed MDM2 amplification with a MDM2/cep12 ratio from 2.4 to 8.4 by CMA. Ten 
      (62.5%) of these cases had CDK4/cep12 ratio >/=2.0. All the cases without CDK4 
      amplification were from the thigh. The MDM2/cep12 ratio of all the benign 
      lipomatous tumors (19/19) was within the normal limits. Twenty-one of the 35 
      benign lipomatous tumors and liposarcomas were also tested for MDM2 amplification 
      by FISH. All the FISH results were consistent with the CMA results (100%). Along 
      with MDM2 amplification, all 16 liposarcomas (100%) also showed amplification of 
      YEATS4, CPM and FRS2. Only 11 of 16 (69%) cases showed HMGA2 amplification. In 
      conclusion, this study demonstrated that CMA on routine formalin fixed paraffin 
      embedded tissue is a sensitive and specific clinical test for detection of MDM2 
      gene amplification. Moreover, CMA allows simultaneous detection of genomic 
      changes of interest including CDK4 and others, which provides enriched 
      information for diagnosing lipomatous tumors.
CI  - Copyright (c) 2021 Wolters Kluwer Health, Inc. All rights reserved.
FAU - Pei, Jianming
AU  - Pei J
AD  - Department of Pathology, Fox Chase Cancer Center, Philadelphia, PA.
FAU - Flieder, Douglas B
AU  - Flieder DB
FAU - Talarchek, Jacqueline N
AU  - Talarchek JN
FAU - Cooper, Harry S
AU  - Cooper HS
FAU - Patchefsky, Arthur S
AU  - Patchefsky AS
FAU - Wei, Shuanzeng
AU  - Wei S
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Appl Immunohistochem Mol Morphol
JT  - Applied immunohistochemistry & molecular morphology : AIMM
JID - 100888796
RN  - 0 (Neoplasm Proteins)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - *Chromosome Aberrations
MH  - *Chromosomes, Human/genetics/metabolism
MH  - Female
MH  - *Gene Expression Profiling
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Liposarcoma/diagnosis/genetics/metabolism/pathology
MH  - Male
MH  - Middle Aged
MH  - *Neoplasm Proteins/biosynthesis/genetics
MH  - *Oligonucleotide Array Sequence Analysis
COIS- The authors declare no conflict of interest.
EDAT- 2021/03/19 06:00
MHDA- 2022/02/05 06:00
CRDT- 2021/03/18 12:35
PHST- 2020/10/19 00:00 [received]
PHST- 2021/01/27 00:00 [accepted]
PHST- 2021/03/19 06:00 [pubmed]
PHST- 2022/02/05 06:00 [medline]
PHST- 2021/03/18 12:35 [entrez]
AID - 00129039-202109000-00006 [pii]
AID - 10.1097/PAI.0000000000000923 [doi]
PST - ppublish
SO  - Appl Immunohistochem Mol Morphol. 2021 Sep 1;29(8):592-598. doi: 
      10.1097/PAI.0000000000000923.