Neurofibromatosis Research Paper

Patients with a tumor that has spread to the spinal bones possibly will build up nerve damage that can lead to paralysis or loss of the use of the legs and/or arms (Fischer and Quinn, 2011).

American Cancer Society says, “The term neuro refers to nerves, while blastoma refers to a cancer that affects immature or developing cells.” It is usually found in the small glands on top of the kidneys. The glands are called adrenal glands. Places where it can develop are the belly, chest, neck, pelvis, and bones. Possible symptoms can include fatigue (a feeling of tiredness or exhaustion or a need to rest because of lack of energy or strength), loss of appetite, and fever. Mayo Clinic says, “There may be a lump or compression of tissues in the affected area.” Treatments for the cancer include surgery or chemotherapy. For smaller tumors that have not spread, surgery is usually the only treatment needed. American Cancer Society, “If the tumor is in the abdomen (belly), the surgeon may do the biopsy with the aid of a laparoscope. This is a long, thin tube with a tiny video camera on the end. It is put into the abdomen through a small incision to allow the surgeon to see inside. The surgeon then makes a second small incision to reach inside the abdomen with long, thin instruments and remove pieces of tumor.” Alex’s original tumor of Neuroblastoma was in her adrenal gland. They did a similar process to Alex for the surgery, except for that they had to make an incision near the kidney to remove the tumor from her

What is Cancer? Cancer is many diseases which involve abnormal cell growth. Cancer cells are able to replicate and spread because they completely lose control and are not able to be restrained. These cells will then form to become tumors. There are two types of tumors called malignant and benign. The malignant tumor is the cancerous tumor. The benign tumors are much less destructive to the body. To tell the difference is quite simple, a malignant tumor has the ability to spread through metastasis causing the cancer to attack multiple areas, whereas the benign tumors cannot spread and are in most cases nonthreatening. Although there are numerous types of cancer, such as breast cancer, lung cancer, and kidney cancer, I chose to write about brain

• Surgery to cut soft tissue that is compressing the nerve. This is usually only done if other treatment methods are ineffective.

(2005) neurofibromatosis type II is a rare condition with an incidence of 1 in 25,000 persons and a penetrance of nearly 100% by age sixty. NFII is an autosomal dominant heritable neoplasia syndrome as defined by Asthagiri et al. (2012). The hallmark of this disorder is the development of bilateral acoustic neuromas, also known as cochleovestibular schwannomas (CVSs), on the auditory nerve. According to previous research, bilateral CVSs are present in 90-95% of NFII patients (Evans, et al., 1992). These non-cancerous tumors are a result of an NFII gene mutation specifically affecting a protein called merlin, also known as schwannomin. This protein acts as a suppressor, keeping cells from growing too rapidly. When the mutation occurs in the gene, it leads to a production of non-functioning merlin protein that cannot regulate growth and division of cells leading to acoustic neuromas. Although it is known how these neuromas form, the way that these neuromas cause hearing loss is not yet fully understood. Asthagiri et al. (2012) stated that “the most frequently cited hypothesis is that the enlarging CVS causes hearing loss through direct compression and stretching of the cochlear nerve.” Neurofibromatosis type II is characterized by bilateral acoustic neuromas, and the surgery to remove these neuromas generally results in severe damage to the auditory nerve causing deafness (Jackson, Mark, Helms, and Behr,

The diseases associated with FUBP1 include oligodendrogliomas, astrocytomas, and oligoastrocytomas. Oligodendrogliomas are primary glial brain tumors and can be either low-grade (grade II) or high-grade (grade III). [2] Since oligodendrogliomas have a slow growth rate, they are often present for years before they are diagnosed. Nevertheless, the most common symptoms include: seizures, headaches, and personality changes. Altogether, the symptoms vary by location and size of the tumor. About 66 to 78 % of people with grade II oligodendroglioma survive for about 5 years after diagnoses, while 30 to 38 % of people with grade III will survive for about 5 years after they are diagnosed. [3] Astrocytoma is another type of brain cancer that stats in the cerebrum, which is the largest part of the brain, but can also appear in the cerebellum, which is the back of the brain. It is more common in men than in women. Like oligodendrogliomas, the most common symptoms of astrocytomas include: headaches, seizure, changes in behavior and memory loss. [4] Prognosis of astrocytomas depends on the type of astrocytoma. Altogether, a low-grade astrocytoma (LGA) has an 83 % 10-year overall survival, while the overall survival rate of a high-grade astrocytoma (HGA) range between 15-20%. In both oligodendrogliomas and astrocytomas, the FUBP1 locus is mutated which leads to the inactivation of

Some nf1 tumors can become cancerous, treatment includes surgery radiation or chemotherapy, however for nf2 advanced diagnostic technologies such as mri can show tumors when the are as small as a few millimeters allowing early treatment. some cases of nf1 can cause cosmetic and psychological issues.

Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone, forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. It usually becomes evident during early childhood, always starting with the neck and shoulders and proceeding down the body into the limbs.

Neuro-Oncology is the study of cancer in the brain, skull base, or spinal cord. They can also treat genetic disorders of a certain type such as Neurofibromatosis. Neurofibromatosis is tumors that grow in the nervous system that is caused by a genetic disorder. The main purpose of the research was to gain information on Neuro- oncology, general information on brain tumors, and general information on specific tumor types. Central nervous system tumors include various gliomas such as glioblastoma multiforme, astrocytoma, brainstem glioma, ependymoma, and oligodendroglioma. Furthermore, meningioma and vestibular schwannomas. Other conditions neuro-oncologist can treat are central nervous system lymphoma, metastic disease to the spine

Although Fibrocystic Disease is common, women don’t know about it until they actually get it. The physicians are not calling this a disease, but rather a condition now.

There are fewer symptoms for this type than NF1. There are fewer brown spots on the body. This disorder is noted for the frequency of tumors found on the spinal cord and brain. These tumors more often than not cause loss of hearing or a ringing sounds to occur in the ears.

There are no cures or treatments for this disorder; but the only therapy for patients with neurofibromatosis is a program of treatment by a team of specialists to manage symptoms or complications. Surgery may be needed when the tumors compress organs or other structures. Less than 10% of people with neurofibromatosis develop cancerous growths. Although there is no cure for NF, the Neurofibromatosis Association is optimistic there will be an effective treatment within the next five to ten years. For families with NF, genetic screening and counseling is available.

Type 1 signs are birthmarks, freckles, neurofibromas, and lisch nodules. If 6 or more birthmarks appear on a child before the age of 5 the type 1 neurofibromatosis would be considered. If outbreaks of freckles in unlikely places such as groin and armpits this could be a possible sign for type 1. If neurofibromas (which is non-cancerous tumors that may grow on nerves of skin) appear deeper inside the body this may also be considered a sign for type 1. Also, if lisch nodules appear in the iris of the eye, this can also be a sign for neurofibromatosis type 1. Type 2 signs are acoustic neuroma, other tumors, and cataracts. Acoustic neuroma are tumors that develop next to the eighth cranial nerve, which goes from the brain to the inner ear. Acoustic neuroma is the most common sign of type 2 and has symptoms of facial numbness, gradual hearing loss, loss of balance, ringing of the ear, vertigo, and facial weakness. If other tumors develop on skin, brain, or spinal cord then this is a sign of type 2. For older people, cataracts can also be a sign for type 2

Fibrodysplasia Ossificans Progressiva is a rare disease that over activates osteogenesis, or bone formation. The disease may also be referred to as “the stone man” disease because it essentially leads to the stiffening of the body, causing restricted mobility. Overall, the predisposition for fibrodysplasia is extremely low for individuals worldwide, as it only affects 1 in 2 million people (10). There seems to be no clear correlation of demographics of people suffering from FOP; the genetic disorder occurs randomly. However, those who live with the disorder face a difficult predicament.

Neurofibromatosis (NF) Type I is a common autosomal dominant genetic disorders. NF Type I has a prevalence rate of approximately 1/3000-4000 individuals. NF Type I is caused mutations in the NFI gene. This gene provides instructions for making the protein neurofibromin. Neurofibromin is produced in many cells, including nerve cells and specialized cells that surround nerves such as, oligodendrocytes and Schwann cells. This protein acts as a tumor suppressor that keeps cells from growing and dividing too rapidly. Mutations in the NFI gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. Therefore, tumors can form along the nerves throughout the body due to the mutation.