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Rhabdoid Tumor
Malignant rhabdoid tumour (MRT) is a very aggressive form of tumor, tumour originally described as a variant of Wilms' tumor, Wilms' tumour, which is primarily a kidney tumour that occurs mainly in children. MRT was first described as a variant of Wilms' tumour of the kidney in 1978. MRTs are a rare and highly malignant childhood neoplasm. Rhabdoid tumours outside the kidney were later reported in many tissues including the liver, soft tissue, and the central nervous system (CNS). Several cases of Primary tumor, primary intracranial MRT have been reported since its recognition as a separate entity in 1978. The term ''rhabdoid'' was used due to its similarity with rhabdomyosarcoma under the light microscope. The exact pathogenesis of MRT is unknown. The cerebellum is the most common location for primary intracerebral MRT (i.e., atypical teratoid rhabdoid tumor). Biggs ''et al.'' were first to report a primary intracranial MRT around 1987. Although the cell of origin is not known, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tumor
A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists in growing abnormally, even if the original trigger is removed. This abnormal growth usually forms a mass, which may be called a tumour or tumor.'' ICD-10 classifies neoplasms into four main groups: benign neoplasms, in situ neoplasms, malignant neoplasms, and neoplasms of uncertain or unknown behavior. Malignant neoplasms are also simply known as cancers and are the focus of oncology. Prior to the abnormal growth of tissue, such as neoplasia, cells often undergo an abnormal pattern of growth, such as metaplasia or dysplasia. However, metaplasia or dysplasia does not always progress to neoplasia and can occur in other conditions as well. The word neoplasm is from Ancient Greek 'new' and 'formation, creation'. Types A neopla ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMARCA4
Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the ''SMARCA4'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. BRG1 works to activate or repress transcription. Having functional BRG1 is important for development past the pre-implantation stage. Without having a functional BRG1, exhibited with knockout research, the embryo will not hatch ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epithelioid Sarcoma
Epithelioid sarcoma is a rare soft tissue sarcoma arising from mesenchymal tissue and characterized by epithelioid-like features. It accounts for less than 1% of all soft tissue sarcomas. It was first definitively characterized by F.M. Enzinger in 1970. It commonly presents itself in the distal limbs (fingers, hands, forearms, or feet) of young adults as a small, soft mass or a cluster of bumps. A proximal version has also been described, frequently occurring in the upper extremities. Less commonly, cases are reported in the pelvis, vulva, penis, and spine. Histologically, epithelioid sarcoma forms nodules with central necrosis surrounded by bland, polygonal cells with eosinophilic cytoplasm and peripheral spindling. Epithelioid sarcomas typically express vimentin, cytokeratins, epithelial membrane antigen, and CD34, whereas they are usually negative for S100, desmin, and FLI1 (FLI-1). They characteristically lack the protein INI1 (see below). Epithelioid sarcomas typical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Germline Mutation
A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and Egg cell, ova). Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote. After this fertilization event occurs, germ cells divide rapidly to produce all of the cells in the body, causing this mutation to be present in every Somatic (biology), somatic and germline cell in the offspring; this is also known as a constitutional mutation. Germline mutation is distinct from somatic mutation. Germline mutations can be caused by a variety of endogenous (internal) and exogenous (external) factors, and can occur throughout zygote development. A mutation that arises only in germ cells can result in offspring with a genetic condition that is not present in either parent; this is because the mutation is not present in the rest of the parents' body, only the ger ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Isochromosome
An isochromosome is an unbalanced structural abnormality in which the arms of the chromosome are mirror images of each other. The chromosome consists of two copies of either the long (q) arm or the short (p) arm because isochromosome formation is equivalent to a simultaneous duplication and deletion of genetic material. Consequently, there is partial trisomy of the genes present in the isochromosome and partial monosomy of the genes in the lost arm. Nomenclature An isochromosome can be abbreviated as i(chromosome number)(centromeric breakpoint). For example, an isochromosome of chromosome 17 containing two q arms can be identified as i(17)(q10).(Medulloblastoma) Mechanism Isochromosomes can be created during mitosis and meiosis through a misdivision of the centromere or U-type strand exchange. Centromere misdivision Under normal separation of sister chromatids in anaphase, the centromere will divide longitudinally, or parallel to the long axis of the chromosome. An isoch ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medulloblastoma
Medulloblastoma is a common type of primary brain cancer in children. It originates in the part of the brain that is towards the back and the bottom, on the floor of the skull, in the cerebellum, or posterior fossa. The brain is divided into two main parts, the larger cerebrum on top and the smaller cerebellum below towards the back. They are separated by a membrane called the tentorium. Tumors that originate in the cerebellum or the surrounding region below the tentorium are, therefore, called infratentorial. Historically, medulloblastomas have been classified as a primitive neuroectodermal tumor (PNET), but it is now known that medulloblastoma is distinct from supratentorial PNETs and they are no longer considered similar entities. Medulloblastomas are invasive, rapidly growing tumors that, unlike most brain tumors, spread through the cerebrospinal fluid and frequently metastasize to different locations along the surface of the brain and spinal cord. Metastasis all the way d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Copy Neutral LOH
In genetics, loss of heterozygosity (LOH) is a type of genetic abnormality in diploid organisms in which one copy of an entire gene and its surrounding chromosomal region are lost. Since diploid cells have two copies of their genes, one from each parent, a single copy of the lost gene still remains when this happens, but any heterozygosity (slight differences between the versions of the gene inherited from each parent) is no longer present. In cancer The loss of heterozygosity is a common occurrence in cancer development. Originally, a heterozygous state is required and indicates the absence of a functional tumor suppressor gene copy in the region of interest. However, many people remain healthy with such a loss, because there still is one functional gene left on the other chromosome of the chromosome pair. The remaining copy of the tumor suppressor gene can be inactivated by a point mutation or via other mechanisms, resulting in a loss of heterozygosity event, and leaving no tu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Loss Of Heterozygosity
In genetics, loss of heterozygosity (LOH) is a type of genetic abnormality in diploid organisms in which one copy of an entire gene and its surrounding chromosomal region are lost. Since diploid cells have two copies of their genes, one from each parent, a single copy of the lost gene still remains when this happens, but any heterozygosity (slight differences between the versions of the gene inherited from each parent) is no longer present. In cancer The loss of heterozygosity is a common occurrence in cancer development. Originally, a heterozygous state is required and indicates the absence of a functional tumor suppressor gene copy in the region of interest. However, many people remain healthy with such a loss, because there still is one functional gene left on the other chromosome of the chromosome pair. The remaining copy of the tumor suppressor gene can be inactivated by a point mutation or via other mechanisms, resulting in a loss of heterozygosity event, and leaving no tumo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uniparental Disomy
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meiosis I error) or isodisomy, in which a single chromosome from one parent is duplicated (a later stage meiosis II error). Uniparental disomy may have clinical relevance for several reasons. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprinting, resulting in imprinting disorders. Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in inbred children of consanguineous partners. UPD has been found to occur in about 1 in 2,000 births. Pathophysiology UPD can occur as a random event during the formation of egg cells or sperm cells or may happen in early fetal developme ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tumour Suppressor Gene
A tumor suppressor gene (TSG), or anti-oncogene, is a gene that regulates a cell during cell division and replication. If the cell grows uncontrollably, it will result in cancer. When a tumor suppressor gene is mutated, it results in a loss or reduction in its function. In combination with other genetic mutations, this could allow the cell to grow abnormally. The loss of function for these genes may be even more significant in the development of human cancers, compared to the activation of oncogenes. TSGs can be grouped into the following categories: caretaker genes, gatekeeper genes, and more recently landscaper genes. Caretaker genes ensure stability of the genome via DNA repair and subsequently when mutated allow mutations to accumulate. Meanwhile, gatekeeper genes directly regulate cell growth by either inhibiting cell cycle progression or inducing apoptosis. Lastly, landscaper genes regulate growth by contributing to the surrounding environment, and when mutated, can cause an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rhabdoid Tumor
Malignant rhabdoid tumour (MRT) is a very aggressive form of tumor, tumour originally described as a variant of Wilms' tumor, Wilms' tumour, which is primarily a kidney tumour that occurs mainly in children. MRT was first described as a variant of Wilms' tumour of the kidney in 1978. MRTs are a rare and highly malignant childhood neoplasm. Rhabdoid tumours outside the kidney were later reported in many tissues including the liver, soft tissue, and the central nervous system (CNS). Several cases of Primary tumor, primary intracranial MRT have been reported since its recognition as a separate entity in 1978. The term ''rhabdoid'' was used due to its similarity with rhabdomyosarcoma under the light microscope. The exact pathogenesis of MRT is unknown. The cerebellum is the most common location for primary intracerebral MRT (i.e., atypical teratoid rhabdoid tumor). Biggs ''et al.'' were first to report a primary intracranial MRT around 1987. Although the cell of origin is not known, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
