Materiały źródłowe

• #1 Neurofibroma – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK539707/

  Neurofibromas are the most prevalent benign peripheral nerve sheath tumor. […] A mutation in the NF1 gene causes neurofibromas. […] Approximately 90% of cases occur sporadically, while the remaining cases are associated with neurofibromatosis type 1 or 2. […] In both sporadic and syndromic cases, neurofibromas are a result of a deletion in the NF1 gene.

• #2 Neurofibroma – Wikipedia

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

  A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor or sporadic neurofibroma), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease. […] Neurofibromas arise from nonmyelinating-type Schwann cells that exhibit biallelic inactivation of the NF1 gene that codes for the protein neurofibromin. […] The formation of malignant cancers from neurofibromas is associated with the loss of expression of the CDKN2A or TP53 gene in nonmyelinating Schwann cells that also exhibit biallelic inactivation of the NF1 gene. […] While nonmyelinating Schwann cells are the origin of neurofibromas, the mutations that make them susceptible to this transformation occur in Schwann cell precursors during early nerve development.

• #3 Neurofibroma | Conditions | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/conditions/neurofibroma

  Most neurofibromas arise with no clear cause. […] But in some people, they are linked to neurofibromatosis type 1 (NF1) a genetic condition that affects development of the nervous system, muscles, bones and skin and while neurofibromas are usually benign (noncancerous), those that develop with NF1 can become malignant (cancerous). […] About 10% of neurofibromas are associated with NF1.

• #4 Neurofibromatosis type 1: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1/

  Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. […] Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. As a result, tumors such as neurofibromas can form along nerves throughout the body.

• #5 Neurofibromatosis – Wikipedia

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

  Neurofibromatosis type I is caused by genetic changes in the NF1 gene located on chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation. A dysfunction or lack of neurofibromin can affect regulation, and cause uncontrolled cell proliferation, leading to the tumors (neurofibromas) that characterize NF1. […] Neurofibromatosis type II is caused by a mutation on chromosome 22 (22q12). The mutation falls on the NF2 tumor suppressor gene. The gene normally encodes a cytoplasmic protein known as merlin. The normal function of merlin is to regulate the activity of multiple growth factors, the mutated copy of the gene leads to merlin’s loss of function. The loss of function leads to increased activity of growth factors normally regulated by merlin, leading to the formation of the tumors associated with NF2.

• #6 Neurofibroma – Symptoms, Causes & Treatment | CK Birla Hospital

  https://www.ckbhospital.com/specialities/gi-oncology/neuroendocrine-tumours/neurofibroma/

  Neurofibroma is often passed on by family members over the years which makes inheritance a factor. However, almost half of the people who are lately diagnosed have no family history of the disorder condition. […] Other mutations (changes) that may lead to neurofibromatosis involve: Neurofibromatosis 1 (NF1) gene on chromosome 17 makes a protein called neurofibromin that controls your cells growth. The changes in this gene causes neurofibromin loss and uncontrolled growth of the cell. […] Neurofibromatosis 2 (NF2) is the gene on chromosome 22 that makes a protein called merlin which suppresses tumors. The changes to this gene cause a loss of merlin and growth of the cell gets uncontrolled. […] Schwannomatosis refers to the mutation of the two known genes linked to schwannomatosis, SMARCB1 and LZTR1. Both of them suppress tumors that are associated with this type of neurofibromatosis.

• #7 Neurofibroma: Definition, Types & Treatment

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

  Neurofibromas are a symptom of neurofibromatosis Type 1 (NF1) that’s caused when a gene called the NF1 gene mutates or changes. The NF1 gene carries instructions for making a protein called neurofibromin. […] Neurofibromin is a tumor suppressor protein that normally prevents cells from growing or dividing too quickly or uncontrollably. It does that by managing a protein called a ras protein that supports cell growth and division. When the NF1 gene mutates, it stops blocking cell growth, paving the way for cells to multiply and become tumors. […] People can inherit NF1 if one parent is carrying the genetic mutation. That parent may have inherited the mutation from one of their parents. About 50% of people with NF1 don’t have a family history of the disease.

• #8 Neurofibromatosis type 1 – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/neurofibromatosis-type-1/symptoms-causes/syc-20350490

  Neurofibromatosis type 1 is caused by an altered gene that either is passed down by a parent or occurs at conception. […] The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate cell growth. When the gene is altered, it causes a loss of neurofibromin. This allows cells to grow without control. […] NF1 has an autosomal dominant inheritance pattern. This means that any child of a parent who is affected by the disease has a 50% chance of having the altered gene.

• #9 Pathology Outlines – Neurofibroma-general

  https://www.pathologyoutlines.com/topic/softtissueneurofibroma.html

  Neurofibroma is a benign peripheral nerve sheath tumor comprised of neuronal and fibrous components. […] According to WHO, etiology is unknown. […] In both sporadic and syndromic cases, neurofibromas are a result of biallelic genetic inactivation of the tumor suppressor gene NF1 with complete loss of function of the NF1 gene product, neurofibromin. […] In sporadic cases, only the lesional cells carry the NF1 mutation. […] In syndromic cases, neurofibromas are the result of a germline mutation in NF1, encoding the tumor suppressor protein neurofibromin, on chromosome 17q11.2.

• #10 Neurofibroma – Wikipedia

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

  A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor or sporadic neurofibroma), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease. […] Neurofibromas arise from nonmyelinating-type Schwann cells that exhibit biallelic inactivation of the NF1 gene that codes for the protein neurofibromin. […] The formation of malignant cancers from neurofibromas is associated with the loss of expression of the CDKN2A or TP53 gene in nonmyelinating Schwann cells that also exhibit biallelic inactivation of the NF1 gene. […] While nonmyelinating Schwann cells are the origin of neurofibromas, the mutations that make them susceptible to this transformation occur in Schwann cell precursors during early nerve development.

• #11 Neurofibroma – Wikipedia

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

  Neurofibromas arise from nonmyelinating Schwann cells that only express the inactive version of the NF1 gene, which leads to a complete loss of expression of functional neurofibromin. […] In order for the neurofibroma to develop, cells that are heterozygous for the NF1 gene must be recruited to the site. […] These chemicals promote the migration of different kinds of cells that are heterozygous for the NF1 gene into the hyperplastic lesions created by the nonmyelinating Schwann cells.

• #12 Neurofibromatosis Type 1: Practice Essentials, Background, Pathophysiology

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

  Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that is characterized by cutaneous findings, most notably caf-au-lait spots and axillary freckling, by skeletal dysplasias, and by the growth of both benign and malignant nervous system tumors, most notably benign neurofibromas. […] The manifestations of neurofibromatosis type 1 (NF1) result from a mutation in or deletion of the NF1 gene. The gene product neurofibromin serves as a tumor suppressor; decreased production of this protein results in the myriad of clinical features. […] Approximately half of affected individuals represent first cases in the family as a result of a new genetic event or mutation. […] Gene mutations typically seen in sporadic GISTs leading to malignant transformation are rarely identified in the GISTs removed from patients with NF1. Instead, activation of the Ras-MAPK pathway and loss of heterozygosity of specific chromosomal regions may underlie the development of GISTs in patients with NF1.

• #13 Neurofibromatosis Type 1 (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/nf.html

  Neurofibromatosis type 1 (NF1) is a genetic condition. It causes benign (not cancerous) tumors to grow in and under the skin, often with bone, hormone, and other problems. […] NF1 and NF2 are part of a group of rare conditions called RASopathies (raz-OP-uh-thees). These happen when there’s a problem in the way cells communicate in one of the body’s pathways. […] Children with neurofibromatosis type 1 have cells that don’t make neurofibromin as they should. Neurofibromin is a protein that acts like a brake to stop the RAS pathway and keep cells from growing out of control. […] This happens because of a change (mutation) in a gene called NF1. […] Sometimes, NF1 runs in families. A parent who has it has a 50% chance of passing it to a child. Other times, the change is „spontaneous.” This means that a child has the condition but the parents do not. This is called a new mutation.

• #14 Neurofibromatosis | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis

  About half of people with NF inherit the condition from one of their parents. The other half develops NF due to a spontaneous (also called sporadic) change in the gene. Each child who inherits the NF1 genetic variant will have symptoms of the condition. There is a 50% chance that a person with NF1 will pass it on to their children. […] It’s not completely known why tumors develop in people with NF. However, tumor development is partly due to genetic changes that affect proteins responsible for controlling the growth of nervous system cells. Without the normal function of these proteins, cell growth increases, leading to the formation of tumors.

• #15 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  NF1 is caused by mutations in the gene that controls production of a protein called neurofibromin (neurofibromin 1). This gene is believed to function as a tumor suppressor. In about 50% of people with NF1, the disorder results from gene mutations that occur for unknown reasons (spontaneous mutation). In others with the disorder, NF1 is inherited (autosomal dominant inheritance pattern). […] NF2 results from mutations in a different tumor-suppressing gene (neurofibromin 2, merlin). Some people with NF2 experience a gene mutation that occurs for unknown reasons (spontaneous mutation), while others inherit it from their parent(s) (autosomal dominant inheritance pattern). […] While schwannomatosis is not well understood, it is estimated that 85% of cases have no known cause (spontaneous) and 15% are inherited.

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

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

  Neurofibromatosis often is inherited (passed down by family members through your genes). But about 50% of people diagnosed with the disorder have no family history of the condition. Thats because it can result from a sudden mutation (change) in your genes. Once this change takes place, you can pass the mutant gene on to future generations. […] The NF1 gene on chromosome 17 makes a protein called neurofibromin that controls your cells growth. The mutation of this gene causes a neurofibromin loss and uncontrolled cell growth. […] The NF2 gene on chromosome 22 makes a protein called merlin or schwannomin. It suppresses tumors. Changes to this gene cause a loss of merlin and uncontrolled cell growth. […] Mutations of two known genes are linked to schwannomatosis, SMARCB1 and LZTR1. Both suppress tumors.

• #17 Neurofibromatosis – Wikipedia

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

  The cause is a genetic mutation in certain oncogenes. These can be inherited, or in about half of cases spontaneously occur during early development. Different mutations result in the three types of NF. Neurofibromatosis arise from the supporting cells of the nervous system rather than the neurons themselves. In NF1, the tumors are neurofibromas (tumors of the peripheral nerves), while in NF2 and schwannomatosis tumors of Schwann cells are more common. […] 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. NF2 is caused by a mutation on the NF2 tumor suppressor gene on chromosome 22. Schwannomatosis is caused by various mutations on chromosome 22. […] Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. If one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity of the parent’s condition does not affect the child; the affected child may have mild NF1 even though it was inherited from a parent with a severe form of the disorder.

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

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

  Neurofibromatosis often is inherited (passed down by family members through your genes). But about 50% of people diagnosed with the disorder have no family history of the condition. Thats because it can result from a sudden mutation (change) in your genes. Once this change takes place, you can pass the mutant gene on to future generations. […] The NF1 gene on chromosome 17 makes a protein called neurofibromin that controls your cells growth. The mutation of this gene causes a neurofibromin loss and uncontrolled cell growth. […] The NF2 gene on chromosome 22 makes a protein called merlin or schwannomin. It suppresses tumors. Changes to this gene cause a loss of merlin and uncontrolled cell growth. […] Mutations of two known genes are linked to schwannomatosis, SMARCB1 and LZTR1. Both suppress tumors.

• #19 Neurofibroma | Altru Health System

  https://www.altru.org/health-library/conditions/neurofibroma

  A neurofibroma can arise with no known cause, or it may appear in people with a genetic condition called neurofibromatosis type 1. Neurofibromas most often are found in people ages 20 to 30 years old. […] The only known risk factor for neurofibromas is having the genetic condition known as neurofibromatosis type 1 (NF1). People with NF1 have several neurofibromas, along with other symptoms. In about half of the people with NF1, the disease was passed down from a parent. However, most people with neurofibromas don’t have NF1.

• #20 Neurofibroma – Wikipedia

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

  A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor or sporadic neurofibroma), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease. […] Neurofibromas arise from nonmyelinating-type Schwann cells that exhibit biallelic inactivation of the NF1 gene that codes for the protein neurofibromin. […] The formation of malignant cancers from neurofibromas is associated with the loss of expression of the CDKN2A or TP53 gene in nonmyelinating Schwann cells that also exhibit biallelic inactivation of the NF1 gene. […] While nonmyelinating Schwann cells are the origin of neurofibromas, the mutations that make them susceptible to this transformation occur in Schwann cell precursors during early nerve development.

• #21 What Is Neurofibroma?

  https://www.icliniq.com/articles/neurological-health/neurofibroma

  Neurofibromas are linked to a hereditary condition called neurofibromatosis type 1. […] The neurofibromin 1 or NF1 gene produces neurofibromin, a big cytoplasmic protein with amino acids and three spliced exons. […] Neurofibromin is a tumor suppressor protein that generally prevents cells from proliferating or developing too fast. […] When the NF1 gene is mutated, it stops preventing cell proliferation, allowing cells to multiply and turn into tumors. […] People who do not have neurofibromatosis can develop solitary neurofibromas, which are also called sporadic neurofibromas. […] Their etiology is unknown, though the contribution of trauma is being investigated by researchers. […] Neurofibromas are caused by non-myelinating Schwann cells, which only exhibit the inactive form of the neurofibromin 1 or NF1 gene, resulting in the absence of functional neurofibromin production.

• #22 Neurofibroma – Wikipedia

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

  Neurofibromas arise from nonmyelinating Schwann cells that only express the inactive version of the NF1 gene, which leads to a complete loss of expression of functional neurofibromin. […] In order for the neurofibroma to develop, cells that are heterozygous for the NF1 gene must be recruited to the site. […] These chemicals promote the migration of different kinds of cells that are heterozygous for the NF1 gene into the hyperplastic lesions created by the nonmyelinating Schwann cells.

• #23 Neurofibroma – Wikipedia

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

  Neurofibromas arise from nonmyelinating Schwann cells that only express the inactive version of the NF1 gene, which leads to a complete loss of expression of functional neurofibromin. […] In order for the neurofibroma to develop, cells that are heterozygous for the NF1 gene must be recruited to the site. […] These chemicals promote the migration of different kinds of cells that are heterozygous for the NF1 gene into the hyperplastic lesions created by the nonmyelinating Schwann cells.

• #24 Neurofibroma Causes, Symptoms and Treatments

  https://www.neurosurgeonsofnewjersey.com/blog/neurofibroma-causes/

  Neurofibroma causes are generally unclear; it is unknown why neurofibroma occurs. Neurofibromas are made up of nerve fibers, blood vessels, Schwann cells, mast cells and fibroblasts. While all of these are normal components of a regular nerve structure, in the case of neurofibromas, they have developed in an unusual way, forming a tumor. […] The related condition known as neurofibromatosis is linked to a genetic disorder also called NF1. This condition typically results in the development of multiple tumors throughout the body. Most of these tumors never cause an issue, however, when they grow on the nerve roots of the spine they can become problematic. […] While neurofibroma causes are unclear, understanding your neurofibroma diagnosis and what you can do about it, is the first step in getting back to your active lifestyle.

• #25 Neurofibromatosis Type 1: Causes, Symptoms, and Treatments

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/neurofibromatosis-type-1

  Neurofibromatosis type 1 (NF1) is a genetic disease that causes developmental changes in the nervous system, skin, and bones. […] NF1 is a genetic disease. A mutation in the gene that manufactures neurofibromin, which is responsible for suppressing cell overgrowth, causes specific cells to grow unmanageably. […] In 50% of NF1 cases, a parent passes the gene mutation on to their child. In other cases, the mutations occur sporadically, which can be due to chromosomes from the nonbirthing parent. […] Pregnancy may increase neurofibroma growth, indicating that hormones can affect the growth of NF1 tumors.

• #26 What Causes Neurofibromas?logo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b

  https://www.jwatch.org/jd200011060000001/2000/11/06/what-causes-neurofibromas

  Neurofibromas are proliferations of peripheral nerves and the surrounding collagenous matrix. They occur sporadically and as part of the neurofibromatosis type I syndrome (NF1). […] Results of earlier studies suggest that trauma may play a role in their etiology, but this has not been proven. […] The authors suggest that the presence of increased numbers of nerves and collagenous matrix components in the apparently normal skin of patients with NF1 supports the notion that neurofibromas are reactive proliferations and not true neoplasms. Further, they argue, the presence of these components around hair follicles may suggest that trauma caused by the interactions of the arrector pili muscles with the follicular epithelium and surrounding dermis may contribute to neurofibroma development.

• #27 Neurofibroma | Oncology | Bon Secours

  https://www.bonsecours.com/health-care-services/cancer-care-oncology/conditions/neurofibroma

  Neurofibroma is a nerve tumor that can occur in any minor or major nerve in the body. […] Most neurofibromas begin as non-cancerous, but they can become cancerous over time. […] In most cases, the cause of this condition is unknown. Sometimes, the genetic condition neurofibromatosis type 1 can cause neurofibroma.

• #28 What is neurofibromatosis type 1 (NF1)? | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/what-is-neurofibromatosis-type-1.h00-159617856.html

  NF1 is a genetic mutation of chromosome 17 that can be inherited from a parent or can develop randomly in an individual. It causes tumors to form in the nervous system. Roughly 1 in 3,000 people carry this genetic mutation at birth. […] Half of all cases will have a negative family history. This means the child or young adult diagnosed doesn’t have a family history of the disease and that the NF1 is likely the result of a spontaneous mutation. […] But in some cases, a neurofibroma can transform from a benign lump around the nerves to true cancer. That’s a type of sarcoma called Malignant Peripheral Nerve Sheath Tumor (MPNST). This type of cancer needs to be treated quickly. If we can diagnose it early, frequently the tumor can be removed to spare the nerve and the function of that limb. Between 5% and 10% of patients with NF1 will develop a malignant tumor at some point in their lives. More rare tumors, like tumors of the adrenal gland, can cause a drastic rise in blood pressure and be damaging as well. In rare cases, NF1 can also be associated with other cancers, such as breast cancer or leukemia.

• #29 Neurofibroma – Wikipedia

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

  A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor or sporadic neurofibroma), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease. […] Neurofibromas arise from nonmyelinating-type Schwann cells that exhibit biallelic inactivation of the NF1 gene that codes for the protein neurofibromin. […] The formation of malignant cancers from neurofibromas is associated with the loss of expression of the CDKN2A or TP53 gene in nonmyelinating Schwann cells that also exhibit biallelic inactivation of the NF1 gene. […] While nonmyelinating Schwann cells are the origin of neurofibromas, the mutations that make them susceptible to this transformation occur in Schwann cell precursors during early nerve development.

• #30 Neurofibroma – DoveMed

  https://www.dovemed.com/diseases-conditions/neurofibroma

  The cause of Neurofibroma is due to genetic mutations. […] Currently, studies indicate defects in the following gene: NF1 gene. […] Additionally, the following chromosomal aberration is noted: Mutations in chromosome 17 due to loss of 17q (long arm); this is observed frequently. […] Mutations in chromosome 19 due to loss of 19p and 19q (on short arm and long arm respectively). […] Mutations in chromosome 22 due to loss of 22q (long arm). […] In localized intraneural and plexiform Neurofibroma, frequently, deletion in 9p is noted. […] It is also sometimes associated with abnormalities in the following genes: CDKN2A, CDKN2B, MTAP. […] The above genetic abnormalities can be detected using molecular studies, which may play a significant role in identifying the tumor type, and in some cases, helping the healthcare provider take appropriate treatment decisions. […] Note: The presence of multiple neurofibromas may indicate neurofibromatosis type 1, which is an autosomal dominant genetic disorder.

• #31 What is neurofibromatosis type 1 (NF1)? | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/what-is-neurofibromatosis-type-1.h00-159617856.html

  NF1 is a genetic mutation of chromosome 17 that can be inherited from a parent or can develop randomly in an individual. It causes tumors to form in the nervous system. Roughly 1 in 3,000 people carry this genetic mutation at birth. […] Half of all cases will have a negative family history. This means the child or young adult diagnosed doesn’t have a family history of the disease and that the NF1 is likely the result of a spontaneous mutation. […] But in some cases, a neurofibroma can transform from a benign lump around the nerves to true cancer. That’s a type of sarcoma called Malignant Peripheral Nerve Sheath Tumor (MPNST). This type of cancer needs to be treated quickly. If we can diagnose it early, frequently the tumor can be removed to spare the nerve and the function of that limb. Between 5% and 10% of patients with NF1 will develop a malignant tumor at some point in their lives. More rare tumors, like tumors of the adrenal gland, can cause a drastic rise in blood pressure and be damaging as well. In rare cases, NF1 can also be associated with other cancers, such as breast cancer or leukemia.

• #32 Neurofibroma – MD Searchlight

  https://mdsearchlight.com/nerve-health/neurofibroma/

  Neurofibromas are the most common type of benign (non-cancerous) tumors found on peripheral nerves, which are the nerves outside your brain and spinal cord. […] These tumors are caused by a mutation, or change, in a gene called NF1. […] About 90% of the time, this condition occurs on its own, without any apparent cause. The other 10% of cases are linked to a condition called neurofibromatosis type 1 or 2. […] Amongst people with the condition known as NF1 who have persistent lesions, there is a higher chance of the harmless neurofibromas turning into harmful nerve sheath tumors. This means the tumors become cancerous, but this situation is fairly uncommon.

• #33 Plexiform neurofibroma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/plexiform-neurofibroma?lang=us

  Plexiform neurofibromas are essentially pathognomonic of neurofibromatosis type 1 (NF1). […] Although generally benign tumors, there is a significant potential for malignant transformation, which occurs in 5-10% of larger tumors.

• #34 Neurofibromatosis – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/neurocutaneous-syndromes/neurofibromatosis

  Neurofibromatosis type 1 (NF1, or von Recklinghausen disease) is most prevalent, occurring in 1 of 4650 people in a study done in the United Kingdom. It causes neurologic, cutaneous, and sometimes soft-tissue or bone manifestations. The NF1 gene is located on band 17q11.2 and encodes synthesis of neurofibromin; 1000 mutations have been identified. Although it is an autosomal dominant disorder, 20 to 50% of cases are caused by a de novo germ cell mutation. […] NF2-related schwannomatosis (NF2) accounts for 10% of cases, occurring in about 1 of 25,000 people in a study from the North West of England. It manifests primarily as congenital bilateral vestibular schwannoma (acoustic neuroma). The NF2 gene is located on band 22q11 and encodes synthesis of merlin, a tumor suppressor; 200 mutations have been identified. Approximately half of patients with NF2 inherit a mutation from an affected parent.

• #35 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

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

  Neurofibromatosis type 2 (NF2) is inherited as an autosomal dominant condition, although half of affected individuals have NF2 as a result of a new (de novo) gene mutation. The manifestations of NF2 result from mutations in (or, rarely, deletion of) the NF2 gene, located on the long arm of chromosome 22. Affected individuals need only 1 mutated or deleted NF2 gene to exhibit signs of the condition. […] The NF2 gene product known as merlin serves as a tumor suppressor; decreased function or production of this protein results in a predisposition to develop a variety of tumors of the central and peripheral nervous systems. […] Numerous mutations in the NF2 gene have been identified, most of which are predicted to result in production of a truncated protein with loss of its usual function.

• #36 Neurofibromatosis – Wikipedia

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

  Neurofibromatosis type I is caused by genetic changes in the NF1 gene located on chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation. A dysfunction or lack of neurofibromin can affect regulation, and cause uncontrolled cell proliferation, leading to the tumors (neurofibromas) that characterize NF1. […] Neurofibromatosis type II is caused by a mutation on chromosome 22 (22q12). The mutation falls on the NF2 tumor suppressor gene. The gene normally encodes a cytoplasmic protein known as merlin. The normal function of merlin is to regulate the activity of multiple growth factors, the mutated copy of the gene leads to merlin’s loss of function. The loss of function leads to increased activity of growth factors normally regulated by merlin, leading to the formation of the tumors associated with NF2.

• #37 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

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

  Neurofibromatosis type 2 (NF2) is inherited as an autosomal dominant condition, although half of affected individuals have NF2 as a result of a new (de novo) gene mutation. The manifestations of NF2 result from mutations in (or, rarely, deletion of) the NF2 gene, located on the long arm of chromosome 22. Affected individuals need only 1 mutated or deleted NF2 gene to exhibit signs of the condition. […] The NF2 gene product known as merlin serves as a tumor suppressor; decreased function or production of this protein results in a predisposition to develop a variety of tumors of the central and peripheral nervous systems. […] Numerous mutations in the NF2 gene have been identified, most of which are predicted to result in production of a truncated protein with loss of its usual function.

• #38 Types of Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/types

  Neurofibromatosis type 1 is the most common form of neurofibromatosis and one of the most common genetic conditions, arising in 1 in 3,000 births. […] In about half of people with neurofibromatosis type 1, the disorder is inherited from a parent. In the other half, the disorder is the result of a new, or spontaneous, mutation or loss of a portion of the neurofibromatosis 1 gene. […] Many people with type 1 neurofibromatosis develop neurofibromas. These are slow-growing, non-cancerous tumors that develop in the protective covering of nerve cells, also call the nerve sheath. […] These tumors usually grow slowly and may become cancerous in up to 10 percent of people with neurofibromatosis type 1 during their lifetime. […] Neurofibromatosis type 2 is much less common than type 1, occurring in about 1 in 40,000 births. […] In neurofibromatosis type 2, tumors also frequently occur on nerves other than the eighth cranial nerve. […] Schwannomatosis is a genetic condition, meaning it is has been associated with changes in the genes INI1 (also known as SMARCB1) and LZTR1 in a minority of people.

• #39 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

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

  Neurofibromatosis type 2 (NF2) is inherited as an autosomal dominant condition, although half of affected individuals have NF2 as a result of a new (de novo) gene mutation. The manifestations of NF2 result from mutations in (or, rarely, deletion of) the NF2 gene, located on the long arm of chromosome 22. Affected individuals need only 1 mutated or deleted NF2 gene to exhibit signs of the condition. […] The NF2 gene product known as merlin serves as a tumor suppressor; decreased function or production of this protein results in a predisposition to develop a variety of tumors of the central and peripheral nervous systems. […] Numerous mutations in the NF2 gene have been identified, most of which are predicted to result in production of a truncated protein with loss of its usual function.

• #40 Types of Neurofibromatosis | NYU Langone Health

  https://nyulangone.org/conditions/neurofibromatosis/types

  Neurofibromatosis type 1 is the most common form of neurofibromatosis and one of the most common genetic conditions, arising in 1 in 3,000 births. […] In about half of people with neurofibromatosis type 1, the disorder is inherited from a parent. In the other half, the disorder is the result of a new, or spontaneous, mutation or loss of a portion of the neurofibromatosis 1 gene. […] Many people with type 1 neurofibromatosis develop neurofibromas. These are slow-growing, non-cancerous tumors that develop in the protective covering of nerve cells, also call the nerve sheath. […] These tumors usually grow slowly and may become cancerous in up to 10 percent of people with neurofibromatosis type 1 during their lifetime. […] Neurofibromatosis type 2 is much less common than type 1, occurring in about 1 in 40,000 births. […] In neurofibromatosis type 2, tumors also frequently occur on nerves other than the eighth cranial nerve. […] Schwannomatosis is a genetic condition, meaning it is has been associated with changes in the genes INI1 (also known as SMARCB1) and LZTR1 in a minority of people.

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

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

  Neurofibromatosis often is inherited (passed down by family members through your genes). But about 50% of people diagnosed with the disorder have no family history of the condition. Thats because it can result from a sudden mutation (change) in your genes. Once this change takes place, you can pass the mutant gene on to future generations. […] The NF1 gene on chromosome 17 makes a protein called neurofibromin that controls your cells growth. The mutation of this gene causes a neurofibromin loss and uncontrolled cell growth. […] The NF2 gene on chromosome 22 makes a protein called merlin or schwannomin. It suppresses tumors. Changes to this gene cause a loss of merlin and uncontrolled cell growth. […] Mutations of two known genes are linked to schwannomatosis, SMARCB1 and LZTR1. Both suppress tumors.

• #42 Neurofibromatosis – Types and Treatments – OrthoInfo – AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/neurofibromatosis

  Neurofibromatosis is a disease that affects the development and growth of nerve cell tissues. It is caused by genetic mutations. […] NF1 is caused by mutations (changes) in the NF1 gene, which provides instructions for the body to make a protein called neurofibromin. […] NF2 is caused by a mutation in the NF2 gene, a tumor suppressor gene. This mutation makes affected people more susceptible to benign and cancerous tumors. […] Schwannomatosis is the rarest form of neurofibromatosis and does not affect the musculoskeletal system. It can be caused by mutations in the SMARCB or LZTR1 genes.

• #43 Neurofibromatosis – AANS

  https://www.aans.org/patients/conditions-treatments/neurofibromatosis/

  NF1 is caused by mutations in the gene that controls production of a protein called neurofibromin (neurofibromin 1). This gene is believed to function as a tumor suppressor. In about 50% of people with NF1, the disorder results from gene mutations that occur for unknown reasons (spontaneous mutation). In others with the disorder, NF1 is inherited (autosomal dominant inheritance pattern). […] NF2 results from mutations in a different tumor-suppressing gene (neurofibromin 2, merlin). Some people with NF2 experience a gene mutation that occurs for unknown reasons (spontaneous mutation), while others inherit it from their parent(s) (autosomal dominant inheritance pattern). […] While schwannomatosis is not well understood, it is estimated that 85% of cases have no known cause (spontaneous) and 15% are inherited.

• #44 Neurofibromatosis: Symptoms, Causes and Treatment | MedPark Hospital

  https://www.medparkhospital.com/en-US/disease-and-treatment/neurofibromatosis

  Mutations affecting specific genes result in different types of neurofibromatosis. Neurofibromatosis 1 is secondary to a mutation of the neurofibromin 1 gene on chromosome 17, while neurofibromatosis 2 is due to a mutation in the neurofibromin 2 gene on chromosome 22. Schwannomatosis is due to the mutations of two genes: SMARCB1 and LZTR1. […] Since neurofibromatosis is due to specific gene mutations, positive family history is the principal risk factor. For NF1 and NF2, the likelihood of inheriting the disease from an affected parent is about 50%. As for schwannomatosis, the risk of inheriting the condition from an affected parent is 15%.

• #45 Neurofibromatosis – Wikipedia

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

  Schwannomatosis is caused by a mutation on the SMARCB1 gene. This gene is located near the NF2 tumor suppressor gene leading to the thought that schwannomatosis and NF2 were the same condition. The two conditions show different mutations on two different genes. The normal function of the SMARCB1 gene is to encode a protein called SMARCB1 that is part of a larger protein complex whose function is not completely understood. The complex including SMARCB1 plays a role in tumor suppression. The mutation of the SMARCB1 gene causes a loss of function in the complex leading to the formation of tumors indicative of schwannomatosis.

• #46 Neurofibroma | Altru Health System

  https://www.altru.org/health-library/conditions/neurofibroma

  A neurofibroma can arise with no known cause, or it may appear in people with a genetic condition called neurofibromatosis type 1. Neurofibromas most often are found in people ages 20 to 30 years old. […] The only known risk factor for neurofibromas is having the genetic condition known as neurofibromatosis type 1 (NF1). People with NF1 have several neurofibromas, along with other symptoms. In about half of the people with NF1, the disease was passed down from a parent. However, most people with neurofibromas don’t have NF1.

• #47 Neurofibromatosis: Symptoms & Causes | NewYork-Presbyterian

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

  The exact causes of the three types of neurofibromatosis are unknown. They appear to involve genetic mutations (changes) that are passed on from a parent to a child or occur during development before birth. The genetic mutation for each type of neurofibromatosis is different. […] The main risk factor for neurofibromatosis is a family history of the disorder. Parents pass on genetic mutations to children. A child of a parent who has NF1 or NF2 has a 50% chance of inheriting the genetic mutation. The risk of inheriting schwannomatosis from a parent who carries the mutation is lower.

• #48 Understanding Neurofibromatosis Genetics and Treatment

  https://drpanossian.com/blog/genetic-causes-neurofibromatosis-mutation-inheritance/

  Spontaneous mutations, also known as de novo mutations, can lead to a child being diagnosed with neurofibromatosis even if there’s no family history. […] Genetic testing is a cornerstone in diagnosing neurofibromatosis, helping to identify the specific type of neurofibromatosis an individual has. […] The chances of inheriting neurofibromatosis from a parent with the condition are 50% due to its dominant inheritance pattern. Each child has a 50% chance of receiving the mutated gene. […] Yes, neurofibromatosis mutations can occur spontaneously, known as spontaneous mutations, without any family history of the condition.

• #49 Neurofibromatosis: Symptoms & Causes | NewYork-Presbyterian

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

  The exact causes of the three types of neurofibromatosis are unknown. They appear to involve genetic mutations (changes) that are passed on from a parent to a child or occur during development before birth. The genetic mutation for each type of neurofibromatosis is different. […] The main risk factor for neurofibromatosis is a family history of the disorder. Parents pass on genetic mutations to children. A child of a parent who has NF1 or NF2 has a 50% chance of inheriting the genetic mutation. The risk of inheriting schwannomatosis from a parent who carries the mutation is lower.

• #50 Neurofibromatosis type 1 (NF1)

  https://www.nhs.uk/conditions/neurofibromatosis-type-1/symptoms/

  Neurofibromatosis type 1 (NF1) is caused by an altered gene. […] Sometimes the altered gene is passed on to a child by one of their parents (inherited). […] But sometimes a child can be born with NF1 even if their parents do not have the altered gene. […] If you have NF1, there’s a 1 in 2 (50%) chance of passing the affected gene on to any children you have.

• #51 Neurofibromatosis Type 1: Causes, Symptoms, and Treatments

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/neurofibromatosis-type-1

  Neurofibromatosis type 1 (NF1) is a genetic disease that causes developmental changes in the nervous system, skin, and bones. […] NF1 is a genetic disease. A mutation in the gene that manufactures neurofibromin, which is responsible for suppressing cell overgrowth, causes specific cells to grow unmanageably. […] In 50% of NF1 cases, a parent passes the gene mutation on to their child. In other cases, the mutations occur sporadically, which can be due to chromosomes from the nonbirthing parent. […] Pregnancy may increase neurofibroma growth, indicating that hormones can affect the growth of NF1 tumors.

• #52 Neurofibromatosis: Symptoms & Causes | NewYork-Presbyterian

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

  The exact causes of the three types of neurofibromatosis are unknown. They appear to involve genetic mutations (changes) that are passed on from a parent to a child or occur during development before birth. The genetic mutation for each type of neurofibromatosis is different. […] The main risk factor for neurofibromatosis is a family history of the disorder. Parents pass on genetic mutations to children. A child of a parent who has NF1 or NF2 has a 50% chance of inheriting the genetic mutation. The risk of inheriting schwannomatosis from a parent who carries the mutation is lower.

• #53 Neurofibromatosis Type 1: Causes, Symptoms, and Treatments

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/neurofibromatosis-type-1

  Neurofibromatosis type 1 (NF1) is a genetic disease that causes developmental changes in the nervous system, skin, and bones. […] NF1 is a genetic disease. A mutation in the gene that manufactures neurofibromin, which is responsible for suppressing cell overgrowth, causes specific cells to grow unmanageably. […] In 50% of NF1 cases, a parent passes the gene mutation on to their child. In other cases, the mutations occur sporadically, which can be due to chromosomes from the nonbirthing parent. […] Pregnancy may increase neurofibroma growth, indicating that hormones can affect the growth of NF1 tumors.

• #54 Solitary neurofibroma

  https://dermnetnz.org/topics/solitary-neurofibroma

  No definitive risk factors have been identified for solitary neurofibroma, which is not inherited. […] The cause of solitary neurofibroma is unknown.

• #55 Neurofibromas | Dr Vanessa Sammons

  https://drvanessasammons.com.au/nerves/nerve-tumours/neurofibromas/

  Neurofibromas are tumours that grow on nerves in the skin, under the skin, or deeper in the body. […] The cause of an individual, sporadic neurofibroma is not known. Multiple neurofibromas generally occur due to a genetic disorder. […] Neurofibromatosis is a genetic disorder that can be inherited. It’s the result of a mutation in a gene responsible for the production of a protein that the body uses to regulate nerve tissue growth. Neurofibromatosis is characterised by multiple neurofibromas. […] Often, people develop a single neurofibroma. The cause of this type of tumour is unknown.

• #56 Plexiform Neurofibromas

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

  People who get plexiform neurofibromas are usually born with a rare genetic disease called neurofibromatosis type 1 (NF1), or von Recklinghausens disease. Around 30% to 50% of people who have NF1 will get one or more throughout their life. […] You get NF1 when the gene that helps make neurofibromin changes, or mutates. Thats a protein that stops tumors from growing. If you have the NF1 gene, theres a 50/50 chance you got it from one of your parents. But this mutation can also happen randomly while youre in the womb, meaning you can get it even if neither of your parents has the gene. […] Theres no evidence that things in your environment trigger NF1 or plexiform neurofibromas. Experts dont think your diet and lifestyle play a role, either.

• #57

  https://www.mountelizabeth.com.sg/conditions-diseases/neurofibroma

  Neurofibromas are commonly linked to a genetic disorder called Neurofibromatosis type 1 (NF1), although they can also occur sporadically, without any apparent genetic predisposition. […] Neurofibroma is primarily caused by a genetic mutation in the NF1 gene, which plays a crucial role in cellular growth control and nerve tissue development. This mutation can be inherited from a parent who has NF1 or can occur spontaneously. […] NF1 codes for neurofibromin and loss of this gene product in NF1 results in elevation of growth promoting signals and increases the risk of tumor formation. Environmental factors do not appear to play a significant role in the development of these tumours.

• #58 Neurofibromatosis | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/neurofibromatosis

  What causes neurofibromatosis 1? […] NF1 is an autosomal dominant gene. This means that: […] If a parent has the mutation, there is a 50% chance that any child of theirs can have it, too. […] Around half of all individuals with NF1 are the first in their family to have the condition. This usually means that the condition wasn’t inherited from a parent, but instead is the result of a spontaneous mutation of the NF1 gene. […] There has been absolutely no evidence that NF1 is caused by any environmental agents or by anything that the mother did during pregnancy.

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