Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Other areas affected may include the lymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the pelvis. Reported sites of metastatic spread include the liver, lungs, lymph nodes, brain, skull, and bones. It is characterized by the EWS-WT1 fusion protein.
Huntsman Cancer Institute (HCI) is an NCI-designated cancer research facility and hospital located on the campus of the University of Utah in Salt Lake City, Utah. It is the only National Cancer Institute-designated Comprehensive Cancer Center in the Intermountain West.
Ewing sarcoma is a type of 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.
Friend leukemia integration 1 transcription factor (FLI1), also known as transcription factor ERGB, is a protein that in humans is encoded by the FLI1 gene, which is a proto-oncogene.
CD99 antigen, also known as MIC2 or single-chain type-1 glycoprotein, is a heavily O-glycosylated transmembrane protein that is encoded by the CD99 gene in humans. The protein has a mass of 32 kD. Unusually for a gene present on the X chromosome, the CD99 gene does not undergo X inactivation, and it was the first such pseudoautosomal gene to be discovered in humans.
ETS translocation variant 4 (ETV4), also known as polyoma enhancer activator 3 (PEA3), is a member of the PEA3 subfamily of Ets transcription factors.
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. The q22.2 region of chromosome 22 encodes the N-terminal transactivation domain of the EWS protein and that region may become joined to one of several other chromosomes which encode various transcription factors, see and the FET protein family. The expression of a chimeric protein with the EWS transactivation domain fused to the DNA binding region of a transcription factor generates a powerful oncogenic protein causing Ewing sarcoma and other members of the Ewing family of tumors. These translocations can occur due to chromoplexy, a burst of complex chromosomal rearrangements seen in cancer cells. The normal EWS gene encodes an RNA binding protein closely related to FUS (gene) and TAF15, all of which have been associated to amyotrophic lateral sclerosis.
ERG is an oncogene. ERG is a member of the ETS family of transcription factors. The ERG gene encodes for a protein, also called ERG, that functions as a transcriptional regulator. Genes in the ETS family regulate embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis.
POU domain, class 4, transcription factor 1 (POU4F1) also known as brain-specific homeobox/POU domain protein 3A (BRN3A), homeobox/POU domain protein RDC-1 or Oct-T1 is a protein that in humans is encoded by the POU4F1 gene.
U1 small nuclear ribonucleoprotein C is a protein that in humans is encoded by the SNRPC gene.
The Ewing family of tumors (EFTs) is a group of small cell sarcomas including Ewing sarcoma of the bone, extra osseous Ewing tumors, and primitive neuroectodermal tumors. They are rare cancers, usually diagnosed in peoples' twenties. The sarcoma of bone is the most common of the variants. All forms are predisposed to metastasis and have had historically high rates of mortality. The family of tumors shares a common translocation mutation of the EWS gene on chromosome 22 to an ETS-type gene, most commonly the FLI1 gene. EFTs are highly malignant, with 5-year survival for patients with metastatic disease at 20%. The current standard of care includes resection, radiation, and chemotherapy.
Homeobox protein Nkx-2.2 is a protein that in humans is encoded by the NKX2-2 gene.
In the field of molecular biology, the ETSfamily is one of the largest families of transcription factors and is unique to animals. There are 29 genes in humans, 28 in the mouse, 10 in Caenorhabditis elegans and 9 in Drosophila. The founding member of this family was identified as a gene transduced by the leukemia virus, E26. The members of the family have been implicated in the development of different tissues as well as cancer progression.
In molecular biology mir-708 microRNA is a short RNA molecule. MicroRNAs function to regulate the expression levels of other genes by several mechanisms. miR-708 is located on chromosome 11q14.1 and is endcoded in intron 1 of the ODZ4 gene. It is most highly expressed in the brain and eyes, and has a supposed role in endoplasmic reticular stress of the eye.
Vivian S. Lee is an American radiologist and health care/health technology executive. An Executive Fellow at Harvard Business School and senior lecturer at Harvard Medical School and Massachusetts General Hospital, Lee is the author of the book, The Long Fix: Solving America's Health Care Crisis with Strategies That Work for Everyone. Lee is also a senior fellow at the Institute for Healthcare Improvement (IHI) in Cambridge, Massachusetts. In 2019, she was named No. 11 in Modern Healthcare's 100 Most Influential People in Healthcare and is a frequent speaker at national and international meetings on the applications of big data, AI, and technology in healthcare, leadership and managing change, health equity, and on climate change and health system resilience.
Joan S. Brugge is the Louise Foote Pfeiffer Professor of Cell Biology and the Director of the Ludwig Center at Harvard Medical School, where she also served as the Chair of the Department of Cell Biology from 2004 to 2014. Her research focuses on cancer biology, and she has been recognized for her explorations into the Rous sarcoma virus, extracellular matrix adhesion, and epithelial tumor progression in breast cancer.
David W. Pershing is an American educator and former president of the University of Utah. He received a bachelor's degree from Purdue University in 1970 and a PhD from University of Arizona.
EWS/FLI1 is an oncogenic protein that is pathognomonic for Ewing sarcoma. It is found in approximately 90% of all Ewing sarcoma tumors with the remaining 10% of fusions substituting one fusion partner with a closely related family member.
Andrea A. Hayes Dixon is an American surgeon. She was the first pediatric surgeon to perform a high-risk, life-saving procedure in children with a rare form of cancer and developed the first orthotropic xenograft model of metastatic Ewing's sarcoma. In 2002, she became the first African American female pediatric surgeon board-certified in the United States.
The FET protein family the EWSR1 protein encoded by the EWSR1 gene located at band 12.2 of the long arm of chromosome 22; 2) the FUS protein encoded by the FUS gene located at band 16 on the short arm of chromosome 16; and 3) the TAF15 protein encoded by the TAF15 gene located at band 12 on the long arm of chromosome 7 The FET in this protein family's name derives form the first letters of FUS, EWSR1, and TAF15.
