Details of Disease

General Information of Disease (ID: DISYJUCJ)

• Disease Name: Dedifferentiated liposarcoma
• Synonyms: DDLPS; DDLS; dedifferentiated liposarcoma
• Definition: A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.
• Disease Hierarchy:
  DIS8IZVM: Liposarcoma
  DISYJUCJ: Dedifferentiated liposarcoma
• Disease Identifiers:
  MONDO ID: MONDO_0020563
  MESH ID: D008080
  UMLS CUI: C0205824
  MedGen ID: 60028
  Orphanet ID: 99970
  SNOMED CT ID: 404072004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ENPP2	TTSCIM2	moderate	Altered Expression	[1]
PLIN1	TTIV27N	moderate	Biomarker	[2]
CDK4	TT0PG8F	Strong	Biomarker	[3]
CLDN6	TTKSV48	Strong	Biomarker	[4]
FASN	TT7AOUD	Strong	Therapeutic	[5]
HMGA2	TTSTVM0	Strong	Biomarker	[6]
MLANA	TT362RB	Strong	Biomarker	[7]
STAT6	TTWOE1T	Strong	Biomarker	[8]
CTDSP1	TTHZAF0	Definitive	Biomarker	[9]
EED	TTFNJ4R	Definitive	Genetic Variation	[10]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
INTS13	OTWE6180	Limited	Biomarker	[11]
SSX2	OT2Z6RLL	Limited	Genetic Variation	[12]
FRS2	OTDMD800	moderate	Biomarker	[13]
LRRC4	OT7XJ70N	moderate	Biomarker	[14]
CAMTA1	OTAN1S5B	Strong	Biomarker	[8]
CBX3	OTOP9RLD	Strong	Altered Expression	[15]
NAB2	OTG4BDF3	Strong	Genetic Variation	[16]
NF1	OTC29NHH	Strong	Biomarker	[17]
TFE3	OTM99ZWH	Strong	Biomarker	[8]
JAZF1	OTXTYSYD	Definitive	Altered Expression	[18]

References

• [1] c-Jun promotes cell migration and drives expression of the motility factor ENPP2 in soft tissue sarcomas.J Pathol. 2014 Oct;234(2):190-202. doi: 10.1002/path.4379. Epub 2014 Aug 1.
• [2] Perilipin 1 Expression Differentiates Liposarcoma from Other Types of Soft Tissue Sarcoma.Am J Pathol. 2019 Aug;189(8):1547-1558. doi: 10.1016/j.ajpath.2019.04.017. Epub 2019 May 22.
• [3] Diagnostic Utility and Limitations of Immunohistochemistry of p16, CDK4, and MDM2 and Automated Dual-color In Situ Hybridization of MDM2 for the Diagnosis of Challenging Cases of Dedifferentiated Liposarcoma.Appl Immunohistochem Mol Morphol. 2019 Nov/Dec;27(10):758-763. doi: 10.1097/PAI.0000000000000677.
• [4] Claudin 6 expression is useful to distinguish myxofibrosarcomas from other myxoid soft tissue tumors.Pathol Res Pract. 2017 Jun;213(6):674-679. doi: 10.1016/j.prp.2016.12.001. Epub 2016 Dec 5.
• [5] Fatty acid synthesis is a therapeutic target in human liposarcoma. Int J Oncol. 2010 May;36(5):1309-14. doi: 10.3892/ijo_00000616.
• [6] Determining the prognostic significance of alternative splicing events in soft tissue sarcoma using data from The Cancer Genome Atlas.J Transl Med. 2019 Aug 23;17(1):283. doi: 10.1186/s12967-019-2029-6.
• [7] Expression of MDM2 and p16 in angiomyolipoma.Hum Pathol. 2018 May;75:34-40. doi: 10.1016/j.humpath.2018.01.022. Epub 2018 Feb 10.
• [8] Immunohistochemical correlates of recurrent genetic alterations in sarcomas.Genes Chromosomes Cancer. 2019 Feb;58(2):111-123. doi: 10.1002/gcc.22700. Epub 2018 Dec 19.
• [9] Integrated exome and RNA sequencing of dedifferentiated liposarcoma.Nat Commun. 2019 Dec 12;10(1):5683. doi: 10.1038/s41467-019-13286-z.
• [10] Clarifying the Distinction Between Malignant Peripheral Nerve Sheath Tumor and Dedifferentiated Liposarcoma: A Critical Reappraisal of the Diagnostic Utility of MDM2 and H3K27me3 Status.Am J Surg Pathol. 2018 May;42(5):656-664. doi: 10.1097/PAS.0000000000001014.
• [11] Management and outcomes of ruptured, perforated or fistulized tumors of mesenchymal origin.J Surg Oncol. 2020 Mar;121(3):474-479. doi: 10.1002/jso.25807. Epub 2019 Dec 17.
• [12] Molecular analyses in the diagnosis and prediction of prognosis in non-GIST soft tissue sarcomas: A systematic review and meta-analysis.Cancer Treat Rev. 2018 May;66:74-81. doi: 10.1016/j.ctrv.2018.04.005. Epub 2018 Apr 22.
• [13] Consistent Amplification of FRS2 and MDM2 in Low-grade Osteosarcoma: A Genetic Study of 22 Cases With Clinicopathologic Analysis.Am J Surg Pathol. 2018 Sep;42(9):1143-1155. doi: 10.1097/PAS.0000000000001125.
• [14] Identification of Coiled-Coil Domain-Containing Protein 180 and Leucine-Rich Repeat-Containing Protein 4 as Potential Immunohistochemical Markers for Liposarcoma Based on Proteomic Analysis Using Formalin-Fixed, Paraffin-Embedded Tissue.Am J Pathol. 2019 May;189(5):1015-1028. doi: 10.1016/j.ajpath.2019.01.013. Epub 2019 Feb 18.
• [15] CBX3 predicts an unfavorable prognosis and promotes tumorigenesis in osteosarcoma.Mol Med Rep. 2019 May;19(5):4205-4212. doi: 10.3892/mmr.2019.10104. Epub 2019 Mar 28.
• [16] Nuclear relocation of STAT6 reliably predicts NAB2-STAT6 fusion for the diagnosis of solitary fibrous tumour.Histopathology. 2014 Nov;65(5):613-22. doi: 10.1111/his.12431. Epub 2014 Sep 2.
• [17] Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.Nat Genet. 2010 Aug;42(8):715-21. doi: 10.1038/ng.619. Epub 2010 Jul 4.
• [18] Analysis of MDM2 Amplification in 43 Endometrial Stromal Tumors: A Potential Diagnostic Pitfall.Int J Gynecol Pathol. 2015 Nov;34(6):576-83. doi: 10.1097/PGP.0000000000000187.