Materiały źródłowe

• #1 Neurofibroma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibroma/diagnosis-treatment/drc-20573721

  To diagnose a neurofibroma, your healthcare professional gives you a physical exam and reviews your medical history. […] Neurofibroma treatment isn’t needed for a single tumor with no symptoms. Healthcare professionals usually monitor the neurofibroma. Surgery may be needed if the tumor is causing symptoms or for cosmetic reasons. Treatment may include: […] Medicine to treat a plexiform neurofibroma. Selumetinib (Koselugo) has been approved to treat a plexiform neurofibroma in children with neurofibromatosis type 1. A plexiform neurofibroma grows on many nerves. The medicine can shrink the tumor. […] Surgery to remove the tumor. Symptoms can be relieved by removing all or part of a neurofibroma that’s pressing on nearby tissue or damaging organs. The type of surgery depends on the location and size of the tumor. The type of surgery also depends on whether the neurofibroma is intertwined with more than one nerve. The goal of surgery is to remove as much of the tumor as possible without causing further nerve damage.

• #2 Neurofibroma: Definition, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/22535-neurofibroma

  Healthcare providers treat neurofibromas with surgery. […] Healthcare providers have several ways to treat neurofibromas: […] Your healthcare provider may recommend removing benign tumors that are on the surface of your skin or beneath your skin. […] If you have neurofibromas pressing on your bones or organs, your healthcare provider may recommend surgery to remove as many tumors or as much of a tumor as possible without damaging your organs and tissues. […] If that’s your situation, talk to your healthcare provider about surgery to remove the visible tumors that make you feel uncomfortable or self-conscious. Neurofibromas rarely come back after surgery. […] If you’ve been diagnosed with neurofibromas, ask your healthcare provider about surgery to remove your neurofibromas.

• #3 Management of cutaneous neurofibroma: current therapy and future directions

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7317049/

  To date, there is no topical or systemic medical treatment recommended for cNF. This report highlights successes and failures of past trials for cNF in addition to highlighting current progress for treatment. […] Specific recommendations for treatment of cNF rely on several factors that include equipment availability, time, tumor burden, tumor size, location, and desired cosmetic outcomes. Due to its benign nature, cNF ultimately do not contribute to differences in mortality for NF1 patients. Thus, asymptomatic lesions without cosmetic concern should be managed by reassurance alone. Symptomatic lesions, such as itching or pain, can be removed physically. Lesions that trouble the patient due to cosmetic disfigurement should be removed given the strong link between cNF burden and lower quality of life.

• #4 Management of cutaneous neurofibroma: current therapy and future directions

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7317049/

  NF1 patients often identify cNF as their greatest burden within this complex syndrome. Medical therapies for cNF have been unsuccessful or are undergoing trials. Surgical removal remains the best treatment approach for cNF. […] Currently, no gold-standard treatment exists for cNF. Physical removal remains the most effective method for treating cNF. Physical removal may encompass modalities such as surgical excision with primary closure and modified biopsy removal methodology or destruction by CO2 laser, electrodessication, and ablation. Challenges facing removal include tumor regrowth from incomplete excision, significant scarring, and cost burden. […] Current medicinal therapies are still under investigation and none is fully effective nor reliable. The past and present therapeutic options are targeting key components to cNF or signaling pathways involved in tumor formation and maintenance, including mTOR, c-Kit, MAPK/MEK, mast cell biochemistry, and cellular proliferative properties.

• #5 Neurofibromatosis type 1 – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/diagnosis-treatment/drc-20350495

  There isn’t a cure for neurofibromatosis type 1 (NF1), but symptoms can be managed. Generally, the sooner someone is under the care of a specialist trained in treating NF1, the better the outcome. […] Selumetinib (Koselugo) is a treatment approved by the U.S. Food and Drug Administration for plexiform neurofibroma in children. The medicine can shrink the size of a tumor. Clinical trials of similar medicines are currently being done for children and adults. […] Surgery to remove tumors may be needed to treat serious symptoms or complications of NF1. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs. […] Cancers related to NF1 are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. Early diagnosis and treatment are the most important factors for a good outcome. […] Researchers are testing gene therapies for neurofibromatosis type 1 (NF1). Potential new treatments could include replacing the NF1 gene to restore the function of neurofibromin.

• #6 Treatments for Plexiform Neurofibromas: Medications and Surgery

  https://www.webmd.com/brain/plexiform-neurofibromas-treatments

  When you or your child has a plexiform neurofibroma, a doctor will want to check it out and monitor it closely to be sure its not causing problems. […] Until recently, removing the tumor with surgery was the only option to treat plexiform neurofibromas. Now doctors also use medications to help slow down tumor growth or shrink tumors that cant be surgically removed. […] Surgery to remove the entire tumor is a cure for about 75% of people who try it. […] An operation to remove the whole tumor is not a safe option for everyone. […] The FDA recently approved a drug called selumetinib (Koselugo) to help treat plexiform neurofibromas that are causing symptoms but that doctors cant remove with surgery. […] Researchers are testing a treatment called sirolimus. So far, there have been promising results showing that it can help ease pain and make plexiform neurofibromas smaller. […] If the tumor has become cancerous, you or your child may need different treatment, including: Radiation, Chemotherapy, Surgery, A combination of all three.

• #7 Pediatric Plexiform Neurofibromas – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/plexiform-neurofibromas

  The most effective form of treatment is to have the tumor surgically removed. […] Until recently, the only known effective treatment for plexiform neurofibromas has been surgery. Approximately 75% of patients who undergo a complete removal of the tumor without causing significant neurologic impairment or dysfunction are cured. […] Children’s National Hospital and other sites around the country are developing new therapies for patients whose tumors can only be partly removed. Most of these treatments are biologically based and designed to treat the genetic foundations of the tumor.

• #8 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Recent advances in laser technology have permitted nonsurgical removal of small, cutaneous neurofibromas. […] Both selumetinib and mirdametinib are MEK inhibitors approved for the treatment of symptomatic plexiform neurofibromas in patients with NF1 who are not eligible for complete surgical removal. […] The use of chemotherapy, especially with carboplatin and vincristine have been shown to be effective in controlling the progression of optic nerve gliomas. […] Surgical resection of neurofibromas can be accomplished, but plastic surgery consultation is advisable for areas of great cosmetic concern such as the face. […] Neurofibromas that press on vital structures, obstruct vision, or grow rapidly deserve immediate attention. […] For many patients, neurofibromas on the scalp, along the hairline, or around the waist where clothes rub can cause great irritation and discomfort. Therefore, removing these should not be considered cosmetic but a necessary medical procedure.

• #9 Neurofibromatosis: Types and Treatment | Doctor

  https://patient.info/doctor/neurofibromatosis-pro

  The current management for pain is either surgery or medication for pain relief. […] Tumours seen in schwannomatosis are often more complicated than the sporadic schwannomas and so need specialist care to ensure successful resection while minimising the risk of nerve injury. […] Although resection frequently results in dramatic improvement in pain, the more tumours resected, the less effective is surgery for pain control. […] Neurofibromas that press on vital structures, obstruct vision, or grow rapidly need urgent attention. […] Plexiform neurofibromas can be difficult. They often recur after resection because there are residual cell rests deep in soft tissues. […] In NF2, there has been some success with cochlear implants for bilateral acoustic neuroma. […] If a PN is inoperable, people have best supportive care, including pain management, physiotherapy, psychological support and sometimes procedures such as a tracheostomy to alleviate severe airway morbidities. […] Clinical trial evidence suggests that selumetinib is effective at reducing the volume and size of PN compared with best supportive care.

• #10 Neurofibroma (Neurofibromatosis) Symptoms and Treatment | UPMC

  https://www.upmc.com/services/neurosurgery/brain/conditions/brain-tumors/neurofibroma

  Learn about the treatment options for Neurofibroma at the UPMC Pituitary Center of Excellence. […] At UPMC, the preferred surgical treatment for neurofibroma of the skull base is the Endoscopic Endonasal Approach (EEA). This innovative, minimally invasive technique uses the nose and nasal cavities as natural corridors to access hard-to-reach or previously inoperable tumors. Benefits of EEA treatment include: […] Surgery is the treatment of choice for neurofibromas; however, surgery is complicated by the fact that these tumors are often interwoven in the nerve structure. […] Because of the risk of nerve damage during surgery, tumors that are not causing symptoms may be left alone. […] Neurofibromas of the skull base can be approached directly by using the Endoscopic Endonasal Approach (EEA). This state-of-the-art, minimally invasive approach allows surgeons to access the tumor through the natural corridor of the nose, without making an open incision. Surgeons then remove the neurofibroma through the nose and nasal cavities.

• #11 MSK Leads the Way in Neurofibromatosis Research and Treatment | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/news/msk-leads-way-neurofibromatosis-research-and-treatment

  At MSK, people with neurofibromatosis have access to a wide array of research studies sponsored by the Neurofibromatosis Clinical Trials Consortium. […] There are many encouraging therapeutic options being tested through the consortium, Dr. Piotrowski says. […] Selumetinib received Breakthrough Therapy Designation earlier this year from the FDA to treat NF1. […] A promising phase II trial recently tested the drug bevacizumab (Avastin) in people with NF2-associated vestibular schwannomas. […] People with neurofibromatosis often require multiple surgeries over their lifetime, so if we can keep it minimally invasive, that’s a big win for them. […] MSK clinicians already use MSK-IMPACTTM, a DNA sequencing test, to determine which genetic changes make a neurofibromatosis tumor vulnerable to specific drugs.

• #12 Neurofibroma – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibroma/diagnosis-treatment/drc-20573721

  After surgery, you may need physical rehabilitation. Physical therapists and occupational therapists can guide you through exercises that keep your muscles and joints active. Rehabilitation also helps prevent stiffness and restore your function and feeling. […] Clinical trials. You may qualify for a clinical trial testing an experimental treatment.

• #13 Management of cutaneous neurofibroma: current therapy and future directions

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7317049/

  Surgical and destructive removal is the mainstay and golden standard of therapy for cNFs. Destructive modalities including CO2 lasers, electrodessications, and photocoagulation are effective in the treatment of tackling hundreds of cNF at one sitting. At this time, future research and controlled clinical trials are necessary to target cNF in early stages of development prior to requiring overt treatment.

• #14 Therapeutic Approach to Plexiform Neurofibromas | IntechOpen

  https://www.intechopen.com/chapters/1132582

  Neurofibromas are complex benign tumors involving various cell types. […] Surgery represents the primary treatment option for NF1-related PN, although recently, specific targeted agents, that is, MEK inhibitors, have been shown to be partially effective. […] Several surgical techniques have been proposed for PNs to decrease intraoperative bleeding and facilitate tumor excision of either diffuse PNs or rapidly growing nodular PN. […] Despite improving surgical methods, complete tumor excision can be achieved in only a few cases. […] Searching for appropriate surgical and pharmacological treatments for neurofibromas is a priority challenge. […] About 85-95% of PN are considered inoperable. […] Non-surgical treatment has been historically used to treat inoperable and symptomatic PN.

• #15 Surgical & Cosmetic Dermatology | Treatment of neurofibromatosis NF-1 with CO2 laser – case report

  http://www.surgicalcosmetic.org.br/details/706/en-US/treatment-of-neurofibromatosis-nf-1-with-co2-laser—case-report

  Type 1 neurofibromatosis has multiple cutaneous lesions and limited treatment options. CO2 laser is a useful tool for the removal of neurofibromas, the main source of cosmetic disfiguration for these patients. […] The treatment of this cutaneous alteration is predominantly surgical, however alternative treatments should be considered for patients with multiple lesions usually above 100 in whom surgical intervention is not possible or desirable. CO2 laser has been shown to be effective in the treatment of large to medium neurofibromas in large numbers, with similar or better aesthetic outcomes than those obtained with surgical excision. […] CO2 laser treatment is more suitable for the removal of large numbers of lesions with reasonable aesthetic outcomes and low risk of complications. […] The patient treated by the authors of the present report showed a high level of satisfaction, with hypopigmentation at the treatment sites being the only adverse effect described, suggesting that the treatment with CO2 laser has great potential in the improvement of the psychological well-being of patients suffering from this pathology. […] Although there is no effective treatment to revert lesions characteristic of NF1, CO2 laser is an option associated to a high level of patient satisfaction and swiftness in the approach of lesions, allowing to treat a large number of lesions per session, with a low risk of complications.

• #16 Neurofibroma Symptoms and Treatment | UPMC

  https://www.upmc.com/services/neurosurgery/spine/conditions/tumors-lesions/neurofibroma

  UPMC offers several options to patients with neurofibromas including surgical treatment and stereotactic radiosurgery. […] If symptoms suggest that the tumor is compressing the spinal cord, corticosteroids are immediately given in high doses to reduce the swelling. These tumors are treated as soon as possible, usually surgically. Because of the risk of nerve damage during surgery, tumors that are not causing symptoms may be left untreated. […] Many neurofibromas can be removed surgically. If tumors cannot be fully removed, radiation therapy may be used to relieve pressure on the spinal cord. UPMC neurosurgeons may also treat neurofibromas with stereotactic spine radiosurgery, which is a minimally invasive technique that uses highly focused beams of radiation to target spinal tumors. The beams destroy the tissue that a surgeon would otherwise need to remove with a scalpel during a traditional operation. The precision of this surgery results in minimal damage to the healthy tissue surrounding the tumor, and a lower risk of side effects compared with traditional surgery.

• #17 Neurofibroma | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/neurofibroma.html

  Treatment at an academic medical center which manages a high volume of neurofibromas is important for the best outcomes. […] Stanford is a global referral center for neurofibromas and is at the forefront of developing new, minimally invasive procedures that treat them. […] Recommendations for treatment depend on the size and location of the tumor, its rate of growth, and details of your overall health. Many neurofibromas do not require immediate treatment. […] If you have a small tumor that isn’t causing symptoms, your doctor may recommend periodic MRI imaging without other interventions. […] If a tumor is larger than 3 centimeters or is causing symptoms, your doctor may recommend surgery to microsurgically remove the tumor and prevent further injury to the brain and nerves. […] Small, slow-growing neurofibromas may be treated effectively with a form of radiation therapy called stereotactic radio surgery or CyberKnife. […] Cancerous neurofibromas are treated with a combination of surgery, radiation therapy, and chemotherapy. […] Clinical trials evaluate new approaches, devices, or medications in the treatment of neurofibromas.

• #18 Neurofibroma – Wikipedia

  https://en.wikipedia.org/wiki/Neurofibroma

  Removal of plexiform neurofibromas is difficult because they can be large and cross tissue boundaries. However, besides pain, plexiform neurofibromas are sometimes removed due to the possibility of malignant transformation. […] Once a plexiform neurofibroma has undergone malignant transformation, radiation and chemotherapy can be used as treatment. However, radiation is generally not used as a treatment for plexiform neurofibromas because of concerns that this could actually promote malignant transformation. […] ACE inhibitors have been proposed as a novel treatment of neurofibromas. ACE inhibitors work by indirectly down regulating TGF-beta, which is a growth factor that has been shown to influence the development of tumors. […] Studies showed no improvement over controls. […] This drug is a Farnesyltransferase inhibitor which inhibits the Ras kinase in a post translational modification step before the kinase pathway becomes hyperactive. It successfully passed phase one clinical trials but was suspended in phase two after showing no improvement over controls.

• #19 FDA Approves First Ever Treatment for Neurofibromatosis – Children’s Tumor Foundation

  https://www.ctf.org/news/fda-approves-first-ever-treatment-for-nf/

  AstraZeneca and MSD(Merck) Receive Approval of Koselugo (selumetinib) […] Approval increases potential for successful tumor reduction in patients […] The U.S. Food and Drug Administration (FDA) has approved Koselugo (selumetinib) for use in patients with inoperable plexiform neurofibromas, a common manifestation in the disease neurofibromatosis type one (NF1). […] In those clinical trials, over 70% of NF patients with inoperable plexiform neurofibromas saw tumor size reduction anywhere from 20-60% in size. […] In addition to both visible and actual tumor reduction, patients reported higher-quality physical function, reduced pain, improved mobility, and enhanced emotional and psychological status. […] Many other MEK inhibitors are also now in clinical trial, including mirdametinib from SpringWorks Therapeutics, a company which the Childrens Tumor Foundation helped spin off from Pfizer.

• #20 Therapeutic Approach to Plexiform Neurofibromas | IntechOpen

  https://www.intechopen.com/chapters/1132582

  A tremendous advance in understanding of NF1 PN pathophysiology was only possible with the use of pre-clinical mouse model of NF1 mimicking patients tumors. […] Following such preclinical evidence provided, a phase I/II trial (SPRINT) was launched at NCI testing a selective orally available MEK12 inhibitor currently under development for other indications (uveal melanoma), named Selumetinib. […] The exceptional response rate for a phase I trial, with a volumetric Partial Response (PR) of 20% volume reduction in 71% of the 50 enrolled children which was confirmed by the phase II data (PR = 68%) with relatively favorable toxicity profile. […] Based on the SPRINT data on safety, radiological and clinical efficacy, Selumetinib (Koselugo) at the doses of 25 mg/m2 BID has been now granted approval from FDA and EMA as the first licensed drug in children aged 2 or more, with NF1 and inoperable and symptomatic PN.

• #21 Clinical Management of Plexiform Neurofibromas in the Era of Selumetinib and Other MEK Inhibitor Drugs – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/blog/blog-archive/clinical-management-of-plexiform-neurofibromas-in-the-era-of-selumetinib-and-other-mek-inhibitor-drugs

  Before beginning the medication, we must be sure that the patient will be compliant with treatment and understand that these oral medications have potential side effects that include problems with heart function, vision, skin, and the gastrointestinal tract; the drugs can also elevate liver enzymes as well as the enzyme CPK (creatine phosphokinase). […] Upwards of 70% of treated plexiform neurofibromas reduce in size by 20% in volume, if not more. […] After a patient has taken selumetinib for a period of time, often around six months, a repeat MRI may be performed to look for evidence of tumor reduction. […] We work with the UAB oncology group to manage patients on selumetinib, including monitoring for side effects. […] Information about long-range tolerance of selumetinib, or at what point patients can safely withdraw from treatment without risk of tumor regrowth, is still being determined. […] In summary, the availability of medication to treat plexiform neurofibromas has truly transformed the approach to the care of individuals with NF1 who have these tumors.

• #22 Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/s12885-023-10996-y

  Several other MEK inhibitors (binimetinib, mirdametinib, trametinib) and the tyrosine kinase inhibitor cabozantinib are also being investigated as medical therapies for NF1-PN. […] There is no single treatment pathway for patients with NF1-PN; surgery, watchful waiting, and/or medical treatment are options. […] Treatment should be individualized based on recommendations from a multidisciplinary team, considering the size and location of PN, effects on adjacent tissues, and patient and family preferences. […] The goal of treatment is to improve or prevent PN-associated morbidity and, if treatment is indicated, selection of a surgical or medical management option should be based on rigorous clinical assessment, ideally with input from all members of a multidisciplinary team (MDT). […] In general, surgery remains the treatment of choice if the PN can readily be resected without significant morbidity.

• #23 New treatment advances in NF1-PN

  https://www.medicalnewstoday.com/articles/nf1-pn-treatment-advances

  The approval of selumetinib considered the results of the SPRINT study, which included 50 children and adolescents ages 2 to 18 years. In this study, 72% of participants responded to treatment, meaning their tumor volume shrunk by at least 20% with selumetinib. […] The success of selumetinib in NF1-PN has spurred research into the use of other MEK inhibitors, including mirdametinib, for treating the condition. […] Once the primary part of the trial is complete, the Food and Drug Administration (FDA) will decide whether to approve mirdametinib for the treatment of NF1-PN. […] Various other MEK inhibitors, such as trametinib and binimetinib, have been or are currently being studied for their use in NF1-PN treatment. […] The approval of selumetinib has revolutionized the treatment of children with inoperable NF1-PN tumors. Following this important advancement in the NF1 treatment paradigm, researchers have been studying various other MEK inhibitors for their use to help treat both children and adults. […] While more work is still necessary, these efforts represent important advancements in the treatment of NF1-PN, particularly for individuals with previously limited options.

• #24 Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas | BMC Cancer | Full Text

  https://bmccancer.biomedcentral.com/articles/10.1186/s12885-023-10996-y

  The optimal duration of therapy with a MEK inhibitor is still unknown. […] It is also important to consider the safety profile of MEK inhibitors when considering longer-term treatment; careful monitoring and management of AEs is critical. […] A recently approved medical therapy option has demonstrated promising efficacy with significant shrinkage of PN, sustained PRs, and improvements in patient-reported outcomes in pediatric patients with symptomatic, inoperable NF1-PN.

• #25 Neurofibromatosis: Diagnosis & Treatment | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/neurofibromatosis/treatment

  There is no known cure for neurofibromatosis. Many children may not require treatment other than regular evaluation by a specialist to monitor changes. Some people may need medication to reduce pain, surgery to remove tumors, and other treatments for complications. […] Selumetinib is used to treat NF1 in children 2 years of age and older who have plexiform neurofibromas tumors that form in the tissue that covers and protects the nerves that cannot be removed by surgery. […] Managing pain is an important part of schwannomatosis treatment. Medications to treat pain may include: Drugs for nerve pain, Tricyclic antidepressants, Serotonin and norepinephrine reuptake inhibitors, Epilepsy medications. […] Surgery may be recommended to treat symptoms and complications of neurofibromatosis. Surgery to remove tumors can help relieve symptoms by removing all or part of the tumors in different parts of the body.

• #26 Pain in Neurofibromatosis Type 1 – Neurofibromatosis Midwest

  https://www.nfmidwest.org/article/pain-in-neurofibromatosis-type-1/

  One of most common challenges for individuals with NF1 is living with chronic pain. […] Given the many pain-related symptoms and complications in individuals with NF1, it is important to let your doctor know about any pain you have. It is ideal to work with a physician who was expertise in NF1. […] Many researchers are developing and investigating drugs that they hope will prevent tumor growth and ultimately shrink the size of PNs. But right now, the main treatment is surgical removal of the tumors. […] NF1-related symptoms sometimes can be managed with pain medication, including nonsteroidal anti-inflammatory drugs (NSAIDs, such as ibuprofen), anticonvulsants (such as Neurontin), and narcotics (such as morphine and oxycodone). […] So far, no research about psychological methods for managing pain in NF1 has been published. […] Yoga has been found helpful among adults with arthritis, low back pain, and other conditions. […] Any of the above techniques should be done in consultation with an appropriate health professional, such as a physician or psychologist.

• #27 Neurofibromatosis: Types and Treatment | Doctor

  https://patient.info/doctor/neurofibromatosis-pro

  Historically, descriptions of individuals thought now to have neurofibromatosis (NF) have been found in manuscripts dating back to 1000 AD. Von Recklinghausen coined the term 'neurofibroma’ in 1881 to describe a benign tumour arising from the peripheral nerve sheath. Consequently, type 1 neurofibromatosis (NF1) is also known as Von Recklinghausen’s disease. […] Care is largely a matter of monitoring progress and intervening appropriately where tumours produce pressure symptoms or behave in a manner suggestive of malignant change. […] Cafe-au-lait spots and neurofibromas are benign and do not require treatment. […] Surgical excision can be performed on symptomatic lesions, but recurrence can occur. […] Plexiform neurofibromas developing into malignant peripheral nerve sheath tumours should be treated with wide local excision. Imatinib has been shown to decrease plexiform neurofibroma size.

• #28 Neurofibromatosis Treatment Pipeline is Evolving with Potential Therapies

  https://www.delveinsight.com/blog/neurofibromatosis-treatment-outlook

  Neurofibromatosis treatment of the tumors depends on the size, location, and symptoms of the tumors. Small tumors in patients with no symptoms can often be observed over time with yearly MR. For larger or symptomatic tumors, or tumors showing growth over time, surgical removal is usually recommended. […] Neurofibromatosis treatment depends on the presence and severity of the forearm, lower extremity, or spinal deformity. People with Type 1 Neurofibromatosis do not usually require any prolonged treatment for any manifestation (disease signs or development) during their lives. Surgery is frequently impossible but may be required to improve or salvage nerve function, after considering the cost-benefit ratio. Cutaneous neurofibromas can be surgically resected for either esthetic or medical reasons. For malignant peripheral nerve sheath tumors, complete surgical resection is the single treatment approach offering a chance of cure; the 5-year survival rate with chemotherapy is less than 20%.

• #29 Neurofibromatosis Type 2 Treatment & Management: Approach Considerations, Radiation Treatment and Chemotherapy, Tumor Resection and Radiosurgery

  https://emedicine.medscape.com/article/1178283-treatment

  ABIs have been used successfully in some patients with hearing loss secondary to vestibular schwannomas. […] The neurologist and neurosurgeon work closely together in the management of central and spinal cord lesions in neurofibromatosis type 2 (NF2). […] The otolaryngologist or otologist is an important consultant in the surgical management of vestibular schwannomas, especially if ABIs are being considered. […] The audiologist serves as an essential member of the management team for individuals with acoustic nerve lesions. […] The ophthalmologist is an important team member and can assist in the diagnosis and care of the patient with NF2. […] Finally, the geneticist may provide diagnostic and genetic information to affected and at-risk individuals.

• #30 Doctors Who Treat Neurofibromatosis | Neurological Surgery

  https://neurosurgery.weillcornell.org/condition/neurofibromatosis-nf1-and-nf2/doctors-who-treat-neurofibromatosis

  An individual with neurofibromatosis is best treated by an interdisciplinary team that may include the following: […] Neurofibromatosis is a complicated disorder, and it should be treated at a major medical center by specialists with expertise in the condition. Our Comprehensive Neurofibromatosis Clinic ensures that each patient gets the individualized treatment plan that will create the best outcomes.

• #31 Neurofibromatosis Type 1 Treatment & Management: Approach Considerations, Medical Care, Surgical Care

  https://emedicine.medscape.com/article/1177266-treatment

  Although patients with neurofibromatosis type 1 (NF1) can be cared for in the primary care setting, additional medical concerns need to be addressed on a routine basis. […] Annual examinations should focus on potential complications of NF. Each examination should include blood pressure measurement, assessment of the skin for typical lesions (including early or growing neurofibromas), visual acuity check, evaluation of the eyes for evidence of proptosis or strabismus, and examination of the spine and extremities for any abnormalities. […] Hospitalization may be necessary for major surgical procedures and workup of uncontrolled hypertension. […] Many minor surgical procedures (eg, removal of cutaneous neurofibromas) may be done in an outpatient surgical setting. […] Removal of neurofibromas for medical or cosmetic indications is one of the most common procedures on individuals with NF1.

• #32 Neurofibromatosis Treatment Pipeline is Evolving with Potential Therapies

  https://www.delveinsight.com/blog/neurofibromatosis-treatment-outlook

  There is an urgent need for better therapies for the treatment of malignant peripheral nerve sheath tumors as well as other cancer types that can be associated with Neurofibromatosis. A large proportion of children diagnosed with Neurofibromatosis type 1-related plexiform neurofibromas have no appropriate treatment available to them and represent a significant unmet medical need. […] Given the potential for major morbidity and even mortality, a strong impetus exists to develop new approaches to treatment. The complexity and variability of the phenotypes observed in people with Neurofibromatosis present challenges that require careful consideration before any kind of cure can be considered. Selumetinib is the first drug that’s been proven to have efficacy, there is a need of newer agents with increased efficacy and activity with reduced toxicity and more durable responses. This would mean third- and fourth-generation MEK inhibitors as well as other types of signal transduction inhibitors that can slow down tumor growth. […] The severe burden of Neurofibromatosis with plexiform neurofibromas on the QOL of patients demonstrates the high unmet need for an effective treatment option that can reduce tumor burden and improve QOL.

• #33 Neurofibromatosis: Types, Symptoms, Causes, and Treatment

  https://www.webmd.com/pain-management/neurofibromatosis

  Theres no cure for neurofibromatosis. Treatments focus on controlling symptoms. Theres no standard treatment for NF, and many symptoms, such as dark spots, do not need treatment. When treatment is necessary, options may include: […] Surgery to remove problem growths or tumors […] Chemotherapy or radiation if a tumor has turned malignant, or cancerous […] Surgery for bone problems, like scoliosis […] Therapy (including physical therapy, counseling, or support groups) […] Cataract removal surgery […] Aggressive treatment of pain linked to the condition […] Stereotactic radiosurgery […] Auditory brainstem and cochlear implants […] You might benefit from joining a clinical trial researching neurofibromatosis. When you enroll in a clinical trial, you’re helping researchers test new approaches to a condition.

Zobacz więcej