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A vestibular schwannoma (VS), also called acoustic neuroma, is a benign tumor that develops on the vestibulocochlear nerve that passes from the inner ear to the brain. The tumor originates when Schwann cells that form the insulating myelin sheath on the nerve malfunction. Normally, Schwann cells function beneficially to protect the nerves which ...
NF2 is a genetically transmitted condition. Diagnosis is most common in early adulthood (20–30 years); however, it can be diagnosed earlier. NF2 can be diagnosed due to the presence of a bilateral vestibular schwannoma, or an acoustic neuroma, which causes a hearing loss that may begin unilaterally. [14]
The three types of neurofibromatosis are caused by different mutations on chromosomes. NF1 is caused by a mutation on the NF1 gene on the arm of chromosome 17. [4] NF2 is caused by a mutation on the NF2 tumor suppressor gene on chromosome 22. [4] Schwannomatosis is caused by various mutations on chromosome 22. [4]
Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder neurofibromatosis (NF). Originally described in Japanese patients, [1] it consists of multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF.
Opitz G/BBB Syndrome is a rare genetic condition caused by one of two major types of mutations: MID1 mutation on the short (p) arm of the X chromosome or a mutation of the 22q11.2 gene on the 22nd chromosome. [10]
Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing between 1.5 and 2% of the total DNA in ...
A common subtype is the vestibular schwannoma (acoustic neuroma) [5]. Neurofibromas: Benign tumors that grow on nerves, commonly associated with neurofibromatosis type 1 (NF1) [2]. Malignant Peripheral Nerve Sheath Tumors (MPNST): Rare but aggressive cancers that arise from peripheral nerves or nerve sheath cells [6].
A malignant peripheral nerve sheath tumor is rare, but is one of the most common frequent soft tissue sarcoma in the pediatrics population. About half of these cases also happen to occur along with neurofibromatosis type 1 (NF-1), which is a genetic mutation on the 17th chromosome which causes tumors along the nervous system.