The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells. This chromosome is defective and unusually short because of reciprocal translocation, t(9;22)(q34;q11), of genetic material between chromosome 9 and chromosome 22, and contains a fusion gene called BCR-ABL1. This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for a hybrid protein: a tyrosine kinase signaling protein that is "always on", causing the cell to divide uncontrollably by interrupting the stability of the genome and impairing various signaling pathways governing the cell cycle.
A synovial sarcoma is a rare form of cancer which occurs primarily in the extremities of the arms or legs, often in proximity to joint capsules and tendon sheaths. It is a type of soft-tissue sarcoma.
A fusion gene is a hybrid gene formed from two previously independent genes. It can occur as a result of translocation, interstitial deletion, or chromosomal inversion. Fusion genes have been found to be prevalent in all main types of human neoplasia. The identification of these fusion genes play a prominent role in being a diagnostic and prognostic marker.
Ectopic is a word used with a prefix, ecto, meaning “out of place.” Ectopic expression is an abnormal gene expression in a cell type, tissue type, or developmental stage in which the gene is not usually expressed. The term ectopic expression is predominantly used in studies using metazoans, especially in Drosophila melanogaster for research purposes.
Ewing sarcoma is a type of pediatric cancer that forms in bone or soft tissue. Symptoms may include swelling and pain at the site of the tumor, fever, and a bone fracture. The most common areas where it begins are the legs, pelvis, and chest wall. In about 25% of cases, the cancer has already spread to other parts of the body at the time of diagnosis. Complications may include a pleural effusion or paraplegia.
Cyclic AMP-dependent transcription factor ATF-1 is a protein that in humans is encoded by the ATF1 gene.
RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 gene on human chromosome 22, specifically 22q12.2. It is one of 3 proteins in the FET protein family.
AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.
Protein SSX2 is a protein that in humans is encoded by the SSX2 gene.
Protein SSXT is a protein that in humans is encoded by the SS18 gene.
Zinc finger protein PLAG1 is a protein that in humans is encoded by the PLAG1 gene.
Nuclear protein 1 is a protein that in humans is encoded by the NUPR1 gene.
ELKS/RAB6-interacting/CAST family member 1 is a protein that in humans is encoded by the ERC1 gene. The name ELKS is derived from "protein rich in the amino acids E, L, K and S"
Protein SSX4 is a protein that in humans is encoded by the SSX4 gene.
SS18-like protein 1 is a protein that in humans is encoded by the SS18L1 gene.
Protein SSX5 is a protein that in humans is encoded by the SSX5 gene.
T-cell acute lymphocytic leukemia 2, also known as TAL2, is a protein which in humans is encoded by the TAL2 gene.
Synovial sarcoma, X breakpoint (SSX) refers to a group of genes rearranged in synovial sarcoma.
Biphenotypic sinonasal sarcoma is a newly recognized, very rare, low-grade malignant tumor of the nasal cavity, which was formerly probably included in fibrosarcoma and synovial sarcoma cases. It was incorporated into the fourth edition of the World Health Organization Classification of Head and Neck Tumours, published in 2017.
SSX family member 6, pseudogene is a protein that in humans is encoded by the SSX6 gene.
