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PDGFR-α
Platelet-derived growth factor receptor A, also termed CD140a, is a receptor located on the surface of a wide range of cell types. The protein is encoded in the human by the ''PDGFRA'' gene. This receptor binds to certain isoforms of platelet-derived growth factors (PDGFs) and thereby becomes active in stimulating cell signaling pathways that elicit responses such as cellular growth and differentiation. The receptor is critical for the embryonic development of certain tissues and organs, and for their maintenance, particularly hematologic tissues, throughout life. Mutations in ''PDGFRA'', are associated with an array of clinically significant neoplasms, notably ones of the clonal hypereosinophilia class of malignancies, as well as gastrointestinal stromal tumors (GISTs). Overall structure This gene encodes a typical receptor tyrosine kinase, which is a transmembrane protein consisting of an extracellular ligand binding domain, a transmembrane domain and an intracellula ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gastrointestinal Stromal Tumor
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. GISTs arise in the smooth muscle pacemaker interstitial cell of Cajal, or similar cells. They are defined as tumors whose behavior is driven by mutations in the KIT gene (85%), PDGFRA gene (10%), or BRAF kinase (rare). 95% of GISTs stain positively for KIT (CD117). Most (66%) occur in the stomach and gastric GISTs have a lower malignant potential than tumors found elsewhere in the GI tract. Classification GIST was introduced as a diagnostic term in 1983. Until the late 1990s, many non-epithelial tumors of the gastrointestinal tract were called "gastrointestinal stromal tumors". Histopathologists were unable to specifically distinguish among types we now know to be dissimilar molecularly. Subsequently, CD34, and later CD117 were identified as markers that could distinguish the various types. Additionally, in the absence of specific therapy, the diagnostic categori ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Receptor (biochemistry)
In biochemistry and pharmacology, receptors are chemical structures, composed of protein, that receive and transduce signals that may be integrated into biological systems. These signals are typically chemical messengers which bind to a receptor and cause some form of cellular/tissue response, e.g. a change in the electrical activity of a cell. There are three main ways the action of the receptor can be classified: relay of signal, amplification, or integration. Relaying sends the signal onward, amplification increases the effect of a single ligand, and integration allows the signal to be incorporated into another biochemical pathway. Receptor proteins can be classified by their location. Transmembrane receptors include ligand-gated ion channels, G protein-coupled receptors, and enzyme-linked hormone receptors. Intracellular receptors are those found inside the cell, and include cytoplasmic receptors and nuclear receptors. A molecule that binds to a receptor is called a ligand ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tumors Of The Hematopoietic And Lymphoid Tissues
Tumors of the hematopoietic and lymphoid tissues (American English) or tumours of the haematopoietic and lymphoid tissues (British English) are tumors that affect the blood, bone marrow, lymph, and lymphatic system. Because these tissues are all intimately connected through both the circulatory system and the immune system, a disease affecting one will often affect the others as well, making aplasia, myeloproliferation and lymphoproliferation (and thus the leukemias and the lymphomas) closely related and often overlapping problems. While uncommon in solid tumors, chromosomal translocations are a common cause of these diseases. This commonly leads to a different approach in diagnosis and treatment of hematological malignancies. Hematological malignancies are malignant neoplasms ("cancer"), and they are generally treated by specialists in hematology and/or oncology. In some centers "hematology/oncology" is a single subspecialty of internal medicine while in others they are consi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myeloblastic Leukemia
Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal cells that build up in the bone marrow and blood and interfere with normal blood cell production. Symptoms may include feeling tired, shortness of breath, easy bruising and bleeding, and increased risk of infection. Occasionally, spread may occur to the brain, skin, or gums. As an acute leukemia, AML progresses rapidly, and is typically fatal within weeks or months if left untreated. Risk factors include smoking, previous chemotherapy or radiation therapy, myelodysplastic syndrome, and exposure to the chemical benzene. The underlying mechanism involves replacement of normal bone marrow with leukemia cells, which results in a drop in red blood cells, platelets, and normal white blood cells. Diagnosis is generally based on bone marrow aspiration and specific blood tests. AML has several subtypes for which treatments and outcomes may vary. The first-lin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myeloproliferative Neoplasm
Myeloproliferative neoplasms (MPNs) are a group of rare blood cancers in which excess red blood cells, white blood cells or platelets are produced in the bone marrow. ''Myelo'' refers to the bone marrow, ''proliferative'' describes the rapid growth of blood cells and ''neoplasm'' describes that growth as abnormal and uncontrolled. The overproduction of blood cells is often associated with a somatic mutation, for example in the JAK2, CALR, TET2, and MPL gene markers. In rare cases, some MPNs such as primary myelofibrosis may accelerate and turn into acute myeloid leukemia. Classification MPNs are classified as blood cancers by most institutions and organizations. In MPNs, the neoplasm (abnormal growth) starts out as benign and can later become malignant. As of 2016, the World Health Organization lists the following subcategories of MPNs: * Chronic myeloid leukemia (CML) * Chronic neutrophilic leukemia (CNL) * Polycythemia vera (PV) * Primary myelofibrosis (PMF) ** PMF, Prefib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chronic Eosinophilic Leukemia
Chronic eosinophilic leukemia is a form of cancer in which too many eosinophils are found in the bone marrow, blood, and other tissues. Most cases are associated with fusion genes. Signs and symptoms Signs and symptoms may include weight loss, fever, malaise, cough, skin and mucosal lesions, diarrhea, and peripheral neuropathy. Cardiac symptoms are also possible. In cases associated with PDGFRB and FGFR1 mutations, splenomegaly is common. Lymphadenopathy is also common with FGFR1 mutations. Infiltration of eosinophils causes organ damage. Causes Most cases of CEL are associated with rearrangements in PDGFRA, PDGFRB, or FGFR1. CEL not otherwise specified (CEL NOS) is a form in which BCR-ABL1 fusion genes and PDGFRA, PDGFRB, and FGFR1 rearrangements are not found. Diagnosis For a diagnosis of CEL, hypereosinophilia with greater than 30% eosinophils is required. Serum IgE is usually normal. In cases associated with PDGFRB, serum vitamin B12 and tryptase may be elevated. P ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eosinophilia
Eosinophilia is a condition in which the eosinophil count in the peripheral blood exceeds . Hypereosinophilia is an elevation in an individual's circulating blood eosinophil count above 1.5 x 109/ L (i.e. 1,500/μL). The hypereosinophilic syndrome is a sustained elevation in this count above 1.5 x 109/L (i.e. 1,500/μL) that is also associated with evidence of eosinophil-based tissue injury. Eosinophils usually account for less than 7% of the circulating leukocytes. A marked increase in non-blood tissue eosinophil count noticed upon histopathologic examination is diagnostic for tissue eosinophilia. Several causes are known, with the most common being some form of allergic reaction or parasitic infection. Diagnosis of eosinophilia is via a complete blood count (CBC), but diagnostic procedures directed at the underlying cause vary depending on the suspected condition(s). An absolute eosinophil count is not generally needed if the CBC shows marked eosinophilia. The location of the c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LNX1
E3 ubiquitin-protein ligase LNX is an enzyme that in humans is encoded by the ''LNX1'' gene. Interactions LNX1 has been shown to interact with NAGK, NUMB and PAFAH1B3 Platelet-activating factor acetylhydrolase IB subunit gamma is an enzyme that in humans is encoded by the ''PAFAH1B3'' gene. Interactions PAFAH1B3 has been shown to interact with PAFAH1B1 and LNX1. See also * PAFAH1B1 * PAFAH1B2 Platele .... References Further reading * * * * * * * * * {{gene-4-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FIP1L1
Factor interacting with PAPOLA and CPSF1 (i.e, FIP1L1; also termed Pre-mRNA 3'-end-processing factor FIP1) is a protein that in humans is encoded by the ''FIP1L1'' gene (also known as Rhe, FIP1, and hFip1). A medically important aspect of the ''FIP1L1'' gene is its fusion with other genes to form fusion genes which cause clonal hypereosinophilia and leukemic diseases in humans. Gene The human ''FIP1L1'' gene is located on chromosome 4 at position q12 (4q12), contains 19 exons, and codes for a complete protein consisting of 594 amino acids. However, alternative splicing of its Precursor mRNA results in multiple transcript variants encoding distinct FIP1L1 protein isoforms. The ''FIP1L1'' gene is found in a wide range of species, being designated as FIP1 in Saccharomyces cerevisiae (yeast) and fip1l1 in coho salmon as well as mice and numerous other mammalian species. In humans, an interstitial chromosomal deletion of about 800 kilobases at 4q12 deletes the ''CHIC2'' gene (i.e.c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myelodysplastic Syndromes
A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells. Early on, no symptoms typically are seen. Later, symptoms may include feeling tired, shortness of breath, bleeding disorders, anemia, or frequent infections. Some types may develop into acute myeloid leukemia. Risk factors include previous chemotherapy or radiation therapy, exposure to certain chemicals such as tobacco smoke, pesticides, and benzene, and exposure to heavy metals such as mercury or lead. Problems with blood cell formation result in some combination of low red blood cell, platelet, and white blood cell counts. Some types have an increase in immature blood cells, called blasts, in the bone marrow or blood. The types of MDS are based on specific changes in the blood cells and bone marrow. Treatments may include supportive care, drug therapy, and hematopoietic stem cell transplantati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lymphoma
Lymphoma is a group of blood and lymph tumors that develop from lymphocytes (a type of white blood cell). In current usage the name usually refers to just the cancerous versions rather than all such tumours. Signs and symptoms may include enlarged lymph nodes, fever, drenching sweats, unintended weight loss, itching, and constantly feeling tired. The enlarged lymph nodes are usually painless. The sweats are most common at night. Many subtypes of lymphomas are known. The two main categories of lymphomas are the non-Hodgkin lymphoma (NHL) (90% of cases) and Hodgkin lymphoma (HL) (10%). The World Health Organization (WHO) includes two other categories as types of lymphoma – multiple myeloma and immunoproliferative diseases. Lymphomas and leukemias are a part of the broader group of tumors of the hematopoietic and lymphoid tissues. Risk factors for Hodgkin lymphoma include infection with Epstein–Barr virus and a history of the disease in the family. Risk factors for common ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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