Details of Disease

General Information of Disease (ID: DIS1MTE6)

• Disease Name: Clear cell sarcoma
• Synonyms: malignant melanoma of soft parts; melanoma, malignant, of soft parts; malignant melanoma of the soft parts; malignant melanoma of soft tissues; clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney); clear cell sarcoma of soft tissue; clear cell sarcoma of soft parts; clear cell sarcoma - not kidney; clear cell sarcoma (morphologic abnormality); chordoid sarcoma; adult soft part clear cell sarcoma
• Disease Class: 2A60-2C35: Sarcoma
• Definition: A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.
• Disease Hierarchy:
  DISSN8XB: Soft tissue sarcoma
  DIS1MTE6: Clear cell sarcoma
• ICD Code: ICD-11: ICD-11: 2A60-2C35
• Disease Identifiers:
  MONDO ID: MONDO_0002926
  MESH ID: D018227
  UMLS CUI: C0206651
  MedGen ID: 104909
  SNOMED CT ID: 271944004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AMG 337	DMIOUEY	Phase 2	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MLANA	TT362RB	Limited	Genetic Variation	[2]
AOC1	TTM3B5R	Strong	Biomarker	[3]
CD6	TTMF6KC	Strong	Genetic Variation	[4]
CREB1	TTH4AN3	Strong	Genetic Variation	[5]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCS	OTXHT3QO	Limited	Biomarker	[6]
CREM	OTJIJ5AL	Limited	Biomarker	[7]
BCOR	OTG013AX	Strong	Genetic Variation	[8]
EWSR1	OT7SRHV3	Strong	Biomarker	[7]
MITF	OT6XJCZH	Strong	Biomarker	[9]
TFE3	OTM99ZWH	Strong	Biomarker	[10]
TRIM11	OTMD6IM2	Strong	Genetic Variation	[11]

References

• [1] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [2] Melan-A/MART-1 immunity in a EWS-ATF1 translocated clear cell sarcoma patient treated with sunitinib: a case report.BMC Cancer. 2015 Feb 14;15:58. doi: 10.1186/s12885-015-1044-0.
• [3] Establishment of a new continuous clear cell sarcoma cell line. Morphological and cytogenetic characterization and detection of chimaeric EWS/ATF-1 transcripts.Virchows Arch. 1997 Jul;431(1):45-51. doi: 10.1007/s004280050068.
• [4] Brain metastasis from gastrointestinal clear cell sarcoma.Clin Neuropathol. 2017 Jan/Feb;36 (2017)(1):41-45. doi: 10.5414/NP300965.
• [5] Detection of specific gene rearrangements by fluorescence in situ hybridization in 16 cases of clear cell sarcoma of soft tissue and 6 cases of clear cell sarcoma-like gastrointestinal tumor.Diagn Pathol. 2018 Sep 15;13(1):73. doi: 10.1186/s13000-018-0752-6.
• [6] Significance of MRI in the diagnosis and differentiation of clear cell sarcoma of tendon and aponeurosis (CCSTA): A case report.Medicine (Baltimore). 2018 Aug;97(31):e11012. doi: 10.1097/MD.0000000000011012.
• [7] Intracranial Myxoid Variant of Angiomatoid Fibrous Histiocytoma: A Case Report and Literature Review.Cureus. 2019 Mar 18;11(3):e4261. doi: 10.7759/cureus.4261.
• [8] Review with novel markers facilitates precise categorization of 41 cases of diagnostically challenging, "undifferentiated small round cell tumors". A clinicopathologic, immunophenotypic and molecular analysis.Ann Diagn Pathol. 2018 Jun;34:1-12. doi: 10.1016/j.anndiagpath.2017.11.011. Epub 2017 Nov 29.
• [9] Eribulin Suppresses Clear Cell Sarcoma Growth by Inhibiting Cell Proliferation and Inducing Melanocytic Differentiation Both Directly and Via Vascular Remodeling.Mol Cancer Ther. 2020 Mar;19(3):742-754. doi: 10.1158/1535-7163.MCT-19-0358. Epub 2019 Dec 3.
• [10] Oncogenic MITF dysregulation in clear cell sarcoma: defining the MiT family of human cancers.Cancer Cell. 2006 Jun;9(6):473-84. doi: 10.1016/j.ccr.2006.04.021.
• [11] A case report of cutaneous melanocytoma with CRTC1-TRIM11 fusion: Is CMCT distinct from clear cell sarcoma of soft tissue?.Pathol Int. 2019 Aug;69(8):496-501. doi: 10.1111/pin.12826. Epub 2019 Jul 5.