One of the most commonly occurring single gene disorder affecting nervous system, neurofibromatosis type I or NF1 involves a number of skin abnormalities. Patients with NF1 have several tumors associated with nervous system and other body organs. These tumors are non-cancerous, known as neurofibromas, and are often formed on or under the skin, and even along the nerves throughout the body.
The most commonly observed tumor is cutaneous neurofibroma, plexiform neurofibroma market is characterized by the formation of small bumps under the skin, which proliferate in both size and number. Cutaneous neurofibromas though cause sensitivity and cosmetic issues, they cause negligible medical problems.
Another type of tumor that commonly affects NF1 patients is plexiform neurofibromas (pNFs) market. It is a benign tumor affecting peripheral nerves that follows the neural element proliferation. Around half of the NH1 affected patient population is usually prone to pNF. This type of tumor includes a range of cell types, such as mast cells, Schwann cells, macrophages, fibroblasts, neuronal axons, and perineural cells. It may also contain collagen and other similar extracellular matrix materials.
Plexiform neurofibrosis can occur anywhere in a body and tumors may continue to grow throughout the life span of a patient. If the neurofibroma converts into a malignant sarcoma or key organs of a body are compressed, it may also result in a deadly outcome. Among all the implictions of NF1, plexiform neurofibromas are the most exhaustive and widely observed. In addition to causing substantial morbidity, nPNF may result in disability, disfiguring, and functional impairment as well.
Rarely, plexiform neurofibromas may result in abnormal functioning of eyes, dysplasias, cognitive deficits, and cardiovascular disorders. Moreover, there are higher chances of acquiring gliomas, leukemias, neuroendocrine tumors, and sometimes breats cancer in females over 50 years of age.
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As pNFs may affect any part of a human body, they generally lead to clinical complications. Those occurred in the areas near neck or head are especially complicated because they result in a range of functional deficits and facial feature disfiguring. Large tumor resections often come with a risk of functional destruction and neurological complications.
MRI and CT scans are used for primary diagnosis of pNFs. When it comes to selecting the right treatment option, medication is not considered the only option as it is proved to be inefficient in treating plexiform neurofibroma. Surgery is the only relatively effective therapy available today. Surgical excision starts with de-bulking, and does not assure cure. Tumors continue to regrow post-surgery and patients have to undergo multiple surgical interventions. Rapid tumor growth, tumor size and location, tumor’s microscopic extension, and neural involvement collectively make it difficult to implement a surgical procedure.
Combination chemotherapy is already being used against plexiform neurofibromas. Drugs, which are used in combination with chemotherapy serve to prevent the proliferation of tumors. Sometimes, tumors may also die. However, the efficacy of combination therapy is not considered a completely reliable option to treat pNF patients.
Other possible methods of treatment are being researched on but nothing substantial has been found yet, in terms of plexiform neurofibroma treatment. Being associated with neurofibromatosis type I, pNFs either reoccur or transform in a malignant stage. Moreover, the tumors are non-radioactive and thus chemotherapy also shows a limited impact. Evaluating clinical trials is quite challenging in case of plexiform neurofibromas, as they develop in an unpredictable manner, making it difficult to examine the objective response. Emergence of innovative techniques of neuroimaging might play a vital role in clinical trials and help to discover highly potential treatment options thereby.
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