This year about 12,000 people in the U.S. will be told by a doctor that they have cancer of the soft tissue. Sarcomas develop more commonly in adults, although certain types of sarcoma are found more typically in children.
Soft tissue sarcomas can form almost anywhere in the body, including cartilage, fat, muscle, fibrous tissue, blood vessels, and other connective or supportive tissues; osteosarcomas develop in bone, liposarcomas form in fat; rhabdomyosarcomas form in muscle; Ewing sarcomas form in bone and soft tissue; Kaposi sarcoma and uterine sarcoma are other types of soft tissue sarcomas. Because there are many types of soft tissue sarcoma, the cell type must be identified before treatment decisions are made. There are ongoing clinical trials using many forms of therapy in specific types of sarcoma.
Source: National Cancer Institute, 2017
This year about 12,000 people in the U.S. will be told by a doctor that they have cancer of the soft tissue. Sarcomas develop more commonly in adults, although certain types of sarcoma are found more typically in children.
Soft tissue sarcomas can form almost anywhere in the body, including cartilage, fat, muscle, fibrous tissue, blood vessels, and other connective or supportive tissues; osteosarcomas develop in bone, liposarcomas form in fat; rhabdomyosarcomas form in muscle; Ewing sarcomas form in bone and soft tissue; Kaposi sarcoma and uterine sarcoma are other types of soft tissue sarcomas. Because there are many types of soft tissue sarcoma, the cell type must be identified before treatment decisions are made. There are ongoing clinical trials using many forms of therapy in specific types of sarcoma.
Source: National Cancer Institute, 2017
CLICK IMAGE FOR MORE INFORMATIONKIT is a gene that provides the code for making a protein belonging to the family of receptor tyrosine kinases (RTKs) that are located on the cell surface. RTKs are the first link in a chain that sends signals from the outside of a cell to the parts inside the cell that control different cellular processes, such as how cells grow and divide (proliferate), become able to perform specific tasks (differentiate) or move (migrate). The KIT protein is activated when another protein, called stem cell factor, attaches (binds) to it. The activated KIT protein then activates other proteins inside the cell, leading to activation of a series of signaling pathways.
Mutations in KIT are the most common genetic change associated with gastrointestinal stromal tumors (GISTs). GISTs are found in the gastrointestinal (GI) tract, usually in the stomach or small intestine. In most cases, these mutations are said to be somatic because, instead of coming from a parent and being present in every cell (hereditary), they are acquired during the course of a person's life and are found only in cells that become cancerous. The mutations create a protein that no longer needs binding of the stem cell factor protein to become activated. Therefore, the signaling systems are always turned on. The constant signaling increases proliferation of a certain type of cell (interstitial cells of Cajal [ICCs]), leading to GIST formation.
KIT mutations also are involved in some cases of acute myeloid leukemia (AML), sinonasal natural killer T-cell lymphoma (NKTCL), some types of melanoma and a type of testicular cancer (seminoma).
Source: Genetics Home Reference
The KIT gene (also known as CD117) encodes for a transmembrane receptor that binds the ligand known as stem cell factor. Binding of the ligand leads to KIT heterodimerization and then autophosphorylation through activation of its intrinsic receptor tyrosine kinase activity. These phosphorylation sites serve as docking areas for the assembly of signal transduction complexes that facilitate MAP kinase, PI3K/AKT/mTOR and JAK/STAT pathway activation to promote cellular proliferation and survival. The highest frequency of KIT mutations are found in gastrointestinal stromal tumors (85%) and core binding factor acute myeloid leukemias (46%).
Source: Genetics Home Reference
PubMed ID's
9438854,
15339674,
15948115,
16647948,
17372901,
16908931The KIT D816A mutation arises from a single nucleotide change (c.2447A>C) and results in an amino acid substitution of the aspartic acid (D) at position 816 by an alanine (A).
The KIT D816A mutation arises from a single nucleotide change (c.2447A>C) and results in an amino acid substitution of the aspartic acid (D) at position 816 by an alanine (A).
Mutations at amino acid position D816 in exon 17 of the KIT gene are rare and have been identified in some sarcoma patients as a secondary mutation in tumors. Studies are underway to determine the best therapy for patients with this mutation.
Mutations at amino acid position D816 in exon 17 of the KIT gene are rare and have been identified in some sarcoma patients as a secondary mutation in tumors. Studies are underway to determine the best therapy for patients with this mutation.
PubMed ID's
16397263,
14645423