t(1;22)(p36.1;q12)

Preferred Label : t(1;22)(p36.1;q12);

NCIt synonyms : t 1 22 p36 1 q12;

NCIt definition : A chromosomal translocation involving breakpoints within the p36.1 band on the short arm of chromosome 1 and the q12 band on the long arm of chromosome 22. This translocation may be associated with EWSR1-PATZ1 fusion gene expression and round cell sarcoma.;

Details

Origin ID

C37251;

UMLS CUI

C1515742;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 1 [NCIt concept]
- Human Chromosome 22 [NCIt concept]
is_abnormality_of_gene
- EWSR1/PATZ1 Fusion Gene [NCIt concept]
- EWSR1/PATZ1 Fusion Gene Long A Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Gene Long B Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Gene Short Isoform [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]
- 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 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
- EWSR1 Gene [NCIt concept]
- EWSR1/PATZ1 Fusion Gene [NCIt concept]
- FET Family Gene [NCIt concept]
- PATZ1 Gene [NCIt concept]

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