t(2;22)(q33;q12)

Preferred Label : t(2;22)(q33;q12);

NCIt synonyms : t 2 22 q13 q22 t 3 18 p21 q23;

NCIt related terms : t(2;22)(q33;q12) (Ewing sarcoma); t(2;22)(q33;q12) (Ewing sarcoma, Clear cell sarcoma);

NCIt definition : A chromosomal translocation involving the CREB1 gene on chromosome 2q33 and the EWSR1 gene on chromosome 22q12.;

Détails

Origin ID

C37249;

UMLS CUI

C1515755;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Sarcoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 2 [NCIt concept]
- Human Chromosome 22 [NCIt concept]
is_abnormality_of_gene
- EWSR1/CREB1 Fusion Gene [NCIt concept]
is_not_cytogenetic_abnormality_of_disease
- Childhood Round Cell Sarcoma with EWSR1-non-ETS Fusion [NCIt concept]
- Metastatic Round Cell Sarcoma with EWSR1-non-ETS Fusion [NCIt concept]
- Round Cell Sarcoma with EWSR1-NFATC2 Gene Fusion [NCIt concept]
- Round Cell Sarcoma with EWSR1-PATZ1 Gene Fusion [NCIt concept]
- Round Cell Sarcoma with EWSR1-non-ETS Fusion [NCIt concept]
- Round Cell Sarcoma with FUS-NFATC2 Gene Fusion [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Angiomatoid Fibrous Histiocytoma [NCIt concept]
- Askin Tumor [NCIt concept]
- Atypical Ewing Sarcoma [NCIt concept]
- Central Nervous System Ewing Sarcoma [NCIt concept]
- Central Nervous System Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Childhood Angiomatoid Fibrous Histiocytoma [NCIt concept]
- Childhood Ewing Sarcoma [NCIt concept]
- Childhood Kidney Ewing Sarcoma [NCIt concept]
- Ewing Sarcoma [NCIt concept]
- Ewing Sarcoma of Bone [NCIt concept]
- Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Extraskeletal Ewing Sarcoma [NCIt concept]
- Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Head and Neck Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Head and Neck Ewing Sarcoma [NCIt concept]
- Kidney Ewing Sarcoma [NCIt concept]
- Localized Askin Tumor [NCIt concept]
- Localized Bone Ewing Sarcoma [NCIt concept]
- Localized Ewing Sarcoma [NCIt concept]
- Localized Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Localized Extraskeletal Ewing Sarcoma [NCIt concept]
- Localized Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Localized Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Locally Advanced Ewing Sarcoma [NCIt concept]
- Lung Ewing Sarcoma [NCIt concept]
- Major Salivary Gland Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Metastatic Bone Ewing Sarcoma [NCIt concept]
- Metastatic Ewing Sarcoma [NCIt concept]
- Metastatic Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Metastatic Extraskeletal Ewing Sarcoma [NCIt concept]
- Metastatic Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Pancreatic Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Parotid Gland Adamantinoma-Like Ewing Sarcoma [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor of Kidney [NCIt concept]
- Peripheral Primitive Neuroectodermal Tumor of Soft Tissues [NCIt concept]
- Recurrent Askin Tumor [NCIt concept]
- Recurrent Bone Ewing Sarcoma [NCIt concept]
- Recurrent Ewing Sarcoma [NCIt concept]
- Recurrent Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Recurrent Extraskeletal Ewing Sarcoma [NCIt concept]
- Recurrent Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Recurrent Peripheral Primitive Neuroectodermal Tumor of Bone [NCIt concept]
- Refractory Ewing Sarcoma [NCIt concept]
- Refractory Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Refractory Peripheral Primitive Neuroectodermal Tumor [NCIt concept]
- Sinonasal Ewing Sarcoma [NCIt concept]
- Skin Ewing Sarcoma [NCIt concept]
- Unresectable Ewing Sarcoma [NCIt concept]
- Vulvar Ewing Sarcoma [NCIt concept]
molecular_abnormality_involves_gene
- CREB1 Gene [NCIt concept]
- EWSR1 Gene [NCIt concept]
- EWSR1/CREB1 Fusion Gene [NCIt concept]
- FET Family Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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