EWSR1-CREB1 Fusion Protein Expression

Preferred Label : EWSR1-CREB1 Fusion Protein Expression;

NCIt definition : Expression of fusion protein EWSR1-CREB1 resulting from a t(2;22)(q33;q12). It is present in the vast majority of angiomatoid fibrous histiocytoma cases.;

Details

Origin ID

C121772;

UMLS CUI

C4055102;

Molecular abnormality of diseases
- Adult Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Advanced Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Angiomatoid Fibrous Histiocytoma [NCIt concept]
- Childhood Angiomatoid Fibrous Histiocytoma [NCIt concept]
- Childhood Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Gastrointestinal Clear Cell Sarcoma/Malignant Gastrointestinal Neuroectodermal Tumor [NCIt concept]
- Metastatic Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Recurrent Clear Cell Sarcoma of Soft Tissue [NCIt concept]
- Refractory Clear Cell Sarcoma of Soft Tissue [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Primary Pulmonary Myxoid Sarcoma with EWSR1-CREB1 Fusion [NCIt concept]
molecular_abnormality_involves_gene
- CREB1 Gene [NCIt concept]
- EWSR1 Gene [NCIt concept]
- EWSR1/CREB1 Fusion Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients