Materiały źródłowe

• #1 Schwannomatosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/schwannomatosis/symptoms-causes/syc-20567542

  Schwannomatosis is a condition that results in slow-growing tumors on nerve tissue. […] Schwannomatosis is rare. It’s usually diagnosed in early adulthood. […] Symptoms can include headaches, hearing loss, trouble with balance and pain. Treatment focuses on managing symptoms. […] See a healthcare professional if you have symptoms of schwannomatosis. Although there is no cure, complications can be treated. […] The risk of inheriting the gene differs based on the type of schwannomatosis. […] For about half of people who have NF2-related schwannomatosis (NF2), they received an altered gene from a parent that caused the disease. […] In SMARCB1- and LZTR1-related schwannomatosis, the disease is less likely to be passed down from a parent. Researchers estimate that the risk of inheriting SMARCB1- and LZTR1-related schwannomatosis from an affected parent is about 15%. […] Complications can occur in schwannomatosis, and they depend on the type the person has.

• #2 Schwannomatosis: Review of Diagnosis and Management | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-030-77633-6_30

  Schwannomatosis is a relatively new addition to the neurofibromatosis family of disorders. Occurring in only 1 in every 70,000 live births, it is the rarest neurofibromatosis and is characterized by the proliferation of peripheral nerve and spinal schwannomas. Genetic studies have identified SMARCB1 and LZTR1 as playing key roles in the pathogenesis of this disease. Patients most commonly present in the fourth or fifth decade of life with chronic and neuropathic pain, the medical management of which forms the core of therapy in this patient population. Surgical excision appears to have a role in the treatment of medically refractory, radicular, or neuropathic pain that is attributable to the schwannoma. At present no systemic therapies exist, and this remains an area of key interest for investigation. […] Diagnostic criteria for schwannomatosis. […] Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

• #3 Schwannomatoses related to genetic variants other than NF2 – UpToDate

  https://www.uptodate.com/contents/schwannomatoses-related-to-genetic-variants-other-than-nf2

  Schwannomatosis is the name originally coined for a neurocutaneous syndrome that is genetically distinct from neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). It was first recognized as distinct from NF2 in the late 1990s. […] In 2022, the nomenclature for NF2 and schwannomatosis was further updated to recognize the disorders as part of a spectrum of schwannoma predisposition syndromes with extensive clinical overlap, defined in many cases by pathogenic variants in one of several genes on chromosome 22. […] DIAGNOSIS: Evaluation, Diagnostic criteria, Tumor pathology, Neuroimaging, Genetic testing.

• #4

  https://www.ctf.org.au/news/89/diagnostic-criteria-update

  An update to the diagnostic criteria for the genetic conditions formerly referred to as neurofibromatosis type two (NF2) and schwannomatosis has been published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG). […] The updated diagnostic criteria for schwannomatosis classify each disorder according to the specific gene harboring a pathogenic variant (formerly called a gene mutation). Therefore, NF2 is now termed NF2-related schwannomatosis. What was previously referred to as schwannomatosis is now termed either SMARCB1-related schwannomatosis, LZTR1-related schwannomatosis, 22q-related schwannomatosis, schwannomatosis-NOS (not otherwise specified), or schwannomatosis NEC (not elsewhere classified). […] There has been some confusion and overlap in the diagnosis of all types of neurofibromatosis and schwannomatosis, and the updated criteria intend to improve patient care by reducing misdiagnosis.

• #5

  https://www.ctf.org.au/news/89/diagnostic-criteria-update

  An update to the diagnostic criteria for the genetic conditions formerly referred to as neurofibromatosis type two (NF2) and schwannomatosis has been published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG). […] The updated diagnostic criteria for schwannomatosis classify each disorder according to the specific gene harboring a pathogenic variant (formerly called a gene mutation). Therefore, NF2 is now termed NF2-related schwannomatosis. What was previously referred to as schwannomatosis is now termed either SMARCB1-related schwannomatosis, LZTR1-related schwannomatosis, 22q-related schwannomatosis, schwannomatosis-NOS (not otherwise specified), or schwannomatosis NEC (not elsewhere classified). […] There has been some confusion and overlap in the diagnosis of all types of neurofibromatosis and schwannomatosis, and the updated criteria intend to improve patient care by reducing misdiagnosis.

• #6 Understanding Barriers to Diagnosis in a Rare, Genetic Disease: Delays and Errors Diagnosing Schwannomatosis | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.01.13.22269170v1.full-text

  Diagnosis of rare, genetic diseases is challenging, but conceptual frameworks of the diagnostic process can be used to guide benchmarking and process improvement initiatives. […] Using the National Academy of Medicine diagnostic framework, we assessed the extent of, and reasons for, diagnostic delays and errors in schwannomatosis, a neurogenetic syndrome characterized by nerve sheath tumors and chronic pain. […] Survival analysis revealed a median time from first symptom to diagnosis of 16.7 years (95% CI, 7.5-26.0 years) and median time from first medical consultation to diagnosis of 9.8 years (95% CI, 3.5-16.2 years). […] Thirty-six percent of patients experienced a misdiagnosis of underlying genetic condition (18.6%), pain etiology (16.5%) and/or tumor imaging/pathology (11.3%). […] One-fifth (19.6%) of patients had a clear missed opportunity for appropriate workup that could have led to an earlier schwannomatosis diagnosis.

• #7 Schwannomatosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/schwannomatosis?lang=us

  Schwannomatosis, also known as neurilemmomatosis, is a condition characterized by multiple schwannomas, and occasionally meningiomas, but without meeting criteria for neurofibromatosis type 2 (NF2). Some consider this as a variant of NF2, but this article considers schwannomatosis an independent disease. […] The clinical diagnosis of schwannomatosis requires either of the following: at least 2 non-intradermal schwannomas, including at least 1 with pathological confirmation, AND no evidence of bilateral vestibular schwannomas. […] Pathologically confirmed schwannoma or intracranial meningioma AND an affected first-degree relative. […] Patients are excluded if any of the following criteria are met: clinical diagnosis of neurofibromatosis type 2, first-degree relative with neurofibromatosis type 2, schwannomas occur only within a radiation treatment field.

• #8 How do doctors diagnose schwannomatosis? – Neurofibromatosis Midwest

  https://www.nfmidwest.org/blog/ufaqs/doctors-diagnose-schwannomatosis/

  The diagnosis of schwannomatosis is made on the basis of clinical findings. Individuals are considered to have definite schwannomatosis if they meet the following criteria: 1) Two or more schwannomas (with at least one that has been shown to be a schwannoma on a pathology report). AND 2) Lack of radiographic evidence of vestibular nerve tumor on an imaging study performed after age 18 years. Individuals are considered to have probable schwannomatosis if they meet the following criteria: 1) Two or more schwannomas (with at least one that has been shown to be a schwannoma on a pathology report) without symptoms of eighth nerve dysfunction at age 30 years OR 2) Two or more schwannomas (with at least one that has been shown to be a schwannoma on a pathology report) in an anatomically limited distribution without symptoms of eighth nerve dysfunction at any age. Some people may have a segmental form of schwannomatosis, meaning that symptoms are limited to only one part of the body. It is important to distinguish between segmental schwannomatosis and NF2, as the symptoms of both can overlap.

• #9 Schwannomatosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/schwannomatosis?lang=us

  The combined clinical and molecular diagnosis of schwannomatosis requires either of the following: at least 2 pathologically confirmed schwannomas or meningiomas with chromosome 22q loss of heterozygosity and 2 different somatic NF2 mutations. […] A pathologically confirmed schwannoma or meningioma and germline SMARCB1 or LZTR1 pathogenic mutation (or the identification of two identical SMARCB1 or LZTR1 mutations in different tumors in a patient). […] Patients are excluded if they have a germline pathogenic NF2 mutation.

• #10 Genetic Testing for Neurofibromatosis and Related Disorders

  https://www.southcarolinablues.com/web/public/brands/medicalpolicyhb/external-policies/genetic-testing-for-neurofibromatosis-and-related-disorders/

  Schwannomatosis is caused by inactivating mutations in SMARCB1 and LZTR and is characterized by multiple schwannomas and pain arising in adulthood (Bergner Yohay, 2024). […] Diagnostic criteria for schwannomatosis was first set forth by MacCollin et al. (2005) but has been revised with the addition of molecular diagnostic criteria (Plotkin et al., 2013). […] A combined molecular and clinical diagnosis may be made with 2 tumors with 22q LOH and different somatic NF2 mutations AND 2 pathologically confirmed schwannomas or meningiomas OR Germline SMARCB1 or LZTR1 pathogenic mutation AND one pathologically confirmed schwannoma or meningioma. […] Kehrer-Sawatzki et al. (2017) also recommended, Comprehensive mutation analysis of all three genes, LZTR1, SMARCB1, and NF2, in patients with schwannomatosis should be performed to identify the complete mutational spectra and the number of mutational hits that affect these genes.

• #11 LZTR1- and SMARCB1-Related Schwannomatosis – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK487394/

  LZTR1- and SMARCB1-related schwannomatosis are characterized by a predisposition to develop multiple non-intradermal schwannomas. […] The diagnosis of LZTR1- or SMARCB1-related schwannomatosis is established in a proband with characteristic clinical findings and a heterozygous germline pathogenic variant in LZTR1 or SMARCB1 identified by molecular genetic testing. […] Consensus diagnostic criteria for LZTR1- and SMARCB1-related schwannomatosis have been published. […] A diagnosis of LZTR1- or SMARCB1-related schwannomatosis is established in a proband with suggestive findings by identification of a heterozygous germline pathogenic (or likely pathogenic) variant in LZTR1 or SMARCB1 by molecular genetic testing. […] Molecular genetic testing approaches can include concurrent LZTR1 and SMARCB1 gene testing or use of a multigene panel. […] An individual with suspected schwannomatosis should have comprehensive molecular genetic testing (i.e., analysis of LZTR1, SMARCB1, NF2, and other genetic causes of predisposition to schwannomatosis).

• #12 Schwannomatosis: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/schwannomatosis

  A healthcare provider will diagnose schwannomatosis after a physical exam and testing. […] Because symptoms of schwannomatosis look similar to other conditions and the source of pain may be difficult to find, a schwannomatosis diagnosis may not happen immediately. […] Fortunately, healthcare providers use updated diagnostic criteria to make diagnosing schwannomatosis types easier than ever before. The diagnostic criteria for SMARCB1-related schwannomatosis include one of the following: […] Imaging tests like an MRI can help your provider find schwannoma tumors. […] If your provider finds a tumor on an imaging test, they’ll order a biopsy to remove a sample of the tumor to examine it under a microscope. […] In addition, a genetic blood test can identify if you have a gene change that causes each type.

• #13 Schwannomatosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/schwannomatosis/diagnosis-treatment/drc-20567562

  To diagnose schwannomatosis, a healthcare professional begins with a review of your personal and family medical history and a physical exam. You also may need other tests to diagnose NF2-related schwannomatosis (NF2) or SMARCB1- and LZTR1-related schwannomatosis. […] Other tests include: […] Imaging tests also are used to monitor the condition after diagnosis. […] Genetic tests won’t always identify NF2 or SMARCB1- and LZTR1-related schwannomatosis because other genes that aren’t known may be involved with the condition. However, some people choose genetic testing before having children. […] For schwannomatosis, basic questions to ask include: What tests do I need? […] Your healthcare provider is likely to ask you several questions, including: Have your symptoms changed over time? […] Is there a family history of schwannomatosis?

• #14 Schwannomatosis Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/schwannomatosis

  Schwannomatosis is a disease that causes schwannomas (nerve tumors). Schwannomatosis is part of a family of diseases called neurofibromatoses. The characteristic symptom of schwannomatosis is the growth of nerve tumors called schwannomas throughout the body. The diagnosis of schwannomatosis includes several forms of testing. MR (magnetic resonance) and CT (computed tomography) scans may be performed to look for growths on nerve tissue. Pathologists may examine tissue from biopsied or removed tumors to determine the tumor type. Genetic testing may be conducted to look for changes associated with schwannomatosis or NF2. A doctor experienced with schwannomatosis can evaluate the results of the imaging scans, genetic tests, the family history, and the laboratory examination of tumor tissue.

• #15 How is Schwannomatosis (other) diagnosed? | Nerve Tumours UK

  https://nervetumours.org.uk/what-are-nerve-tumours/schwannomatosis/how-is-schwannomatosis-diagnosed

  Unless a person comes from a family with definite Schwannomatosis, the diagnosis is only considered after the more likely possibility of NF2 has been excluded. […] Patients with suspicious symptoms are usually referred to one of the specialist Neurofibromatosis (NF) Centres, or reviewed by Consultants working within a regional genetics service skilled at differentiating this diagnosis. […] The doctors there will undertake a series of tests to look for signs of NF2 including skin and eye checks, head and spine MRI scans and genetic testing. […] It may be necessary for the genetic testing to be done both on schwannomas that have been removed and blood samples before the diagnosis is clarified. […] In an individual with at least 2 non-intradermal (i.e. within the layers of the skin) schwannomas, an MRI scan will be undertaken to confirm or exclude the diagnosis of NF2. […] If no vestibular schwannomas are present and there is no other evidence of NF2, then a diagnosis of Schwannomatosis will be considered. […] There is no confirmatory blood test available at present.

• #16 ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-022-01086-x

  A Guideline Group (GG) was convened from multiple specialties and patients to develop the first comprehensive schwannomatosis guideline. […] Schwannomatosis is a tumour predisposition syndrome leading to development of multiple benign nerve-sheath non-intra-cutaneous schwannomas that infrequently affect the vestibulocochlear nerves. […] Craniospinal MRI is generally recommended from symptomatic diagnosis or from age 12-14 if molecularly confirmed in asymptomatic individuals whose relative has schwannomas. Whole-body MRI may also be deployed and can alternate with craniospinal MRI. […] Genetic diagnosis and counselling should be guided ideally by both blood and tumour molecular testing. […] The schwannomatosis GG has developed recommendations for the diagnosis, surveillance and treatment of schwannomatosis in both children and adults with a high degree of consensus across clinical experts and patients.

• #17 Schwannomatosis – FIT

  http://www.krebs-praedisposition.de/en/kompendium/schwannomatosis/

  Hearing screening […] Ophthalmological examination […] Dermatological examination for Schwannomatous plaques […] Regular examinations for asymptomatic patients or patients with stable findings […] Physical examination, including neurological examination, with recording of any pain since diagnosis, annually […] Head MRI from age 13 years or 3 years after baseline imaging, every 3 years […] LZTR1 only: including dedicated high-resolution imaging of the internal auditory canal […] If brain tumour is detected on initial MRI, repeat MRI after 1 year, then every 3 years if findings are stable […] MRI of the spine and whole body starting at 13 years or 3 years after baseline imaging, alternating every 3 years […] Regular examinations for symptomatic patients […] Dedicated MRI of the painful or symptomatic region […] In SMARCB1 patients, 18F-FDG-PET can be considered for rapidly growing, changing, painful or function-restricting tumours

• #18 [18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01680-0

  Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The diagnosis requires the presence of several schwannomas and whole-body [18F]FDG-PET/MRI might help detect extra schwannomas in patients when the diagnosis is uncertain. […] Our findings show that [18F]FDG-PET/MRI could prove useful when suspecting schwannomatosis to accelerate diagnosis and offer optimal care to patients. […] An optimal evaluation of the number of lesions is capital in the diagnosis of schwannomatosis since it requires the identification of two or more schwannomas. […] The two imaging modalities appear to be complementary in the work-up of schwannomatosis, as each technique offers the possibility of identifying schwannomas that were not detected by the other imaging modality.

• #19 [18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01680-0

  In conclusion, our findings show that [18F]FDG-PET/MRI could prove useful in accelerating the diagnosis of schwannomatosis and in offering an optimal follow-up to patients. To better investigate the benefit of [18F]FDG-PET/MRI as a diagnostic tool, a prospective evaluation of patients suspected to have schwannomatosis before they fulfill the diagnosis criteria would be of great interest.

• #20 Frontiers | 18F-FDG PET/CT revealed sporadic schwannomatosis involving the lumbar spinal canal and both lower limbs: a case report

  https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1346647/full

  The patient we reported is consistent with the diagnosis of schwannomatosis. […] The SMARCB1 gene is located at 22q11.23 and contains nine exons that encode the SMARCB1 protein, which has a tumor-suppressive function. […] The main treatment for schwannomatosis is surgical resection. […] The majority of schwannomatosis cases are benign, thus indicating a favorable prognosis. […] The patient has a good prognosis, and no disease progression was observed during the follow-up period. […] 18F-FDG PET/CT contributes to the accurate localization of schwannomatosis and has certain imaging characteristics; namely, the Antoni A area rich in tumor cells showed increased uptake of 18F-FDG, while the Antoni B region rich in mucus only showed a mildly increased 18F-FDG uptake.

• #21 Schwannomatosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/schwannomatosis/

  Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. […] The signs and symptoms of schwannomatosis usually appear in early adulthood. […] Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by the growth of tumors in the nervous system. […] The incidence of schwannomatosis is unknown, although estimates in several populations have ranged from 1 in 40,000 to 1 in 1.7 million people. […] Mutations in at least two genes, SMARCB1 and LZTR1, can cause schwannomatosis. […] Most cases of schwannomatosis are sporadic, which means that they occur in people with no history of the disorder in their family. […] Studies suggest that 15 to 25 percent of cases of schwannomatosis run in families.

• #22 Schwannomatosis Panel Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=Schwannomatosis-Panel

  Schwannomatosis is caused by heterozygous germline variants in the SMARCB1 gene or the LZTR1 gene. […] Pathogenic SMARCB1 variants account for about 50% of clinically diagnosed familial cases and 10% of sporadic cases. […] Pathogenic LZTR1 variants account for about 43% of clinically diagnosed familial cases and 30% of sporadic cases. […] This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

• #23 Genetic Testing for Schwannomatosis – A Discussion with the Director of the UAB Medical Genomics Laboratory – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/blog/blog-archive/genetic-testing-for-schwannomatosis-a-discussion-with-the-director-of-the-uab-medical-genomics-laboratory

  Tumor testing is an important component of genetic testing for schwannomatosis. […] We maintain close communication with referring clinicians as well as UAB NF experts, which allows us to advise referring clinicians regarding the most appropriate testing strategies, sample types needed, and interpretation of the results. […] A comprehensive schwannoma panel analysis of tumor consists of three components: 1) NGS analysis to identify small genetic lesions (single nucleotide variant and small Indels) in NF2, SMARCB1 and LZTR1; 2) copy number analysis of the three genes by multiplex-ligation dependent probe amplification (MLPA); and 3) loss of heterozygosity analysis for chromosome 22q by comparing twelve microsatellite markers between the tumor and unaffected tissue. […] When we test tumor-derived DNA, we are looking for changes in the three causal genes on chromosome 22.

• #24 Schwannomatosis Genetic Testing – Providers | Ambry Genetics

  https://www.ambrygen.com/providers/genetic-testing/141/neurology/schwannomatosis

  Schwannomatosis is a form of neurofibromatosis that causes growth of benign tumors, called schwannomas, along the spinal and peripheral nerves. Genetic testing for SMARCB1 can help confirm a diagnosis of schwannomatosis, which can lead to better management. […] This test can detect 99.9% of described mutations in SMARCB1, when present (analytic sensitivity). […] SMARCB1 is evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5 and 3 ends of all the introns and untranslated regions. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of SMARCB1 using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray.

• #25 Genetic Testing for Neurofibromatosis and Related Disorders

  https://www.southcarolinablues.com/web/public/brands/medicalpolicyhb/external-policies/genetic-testing-for-neurofibromatosis-and-related-disorders/

  This comprehensive testing may help to classify the tumors according to their mutation-profile. The mutation analysis should also include methods, such as next-generation sequencing, which are well suited to detect somatic mosaicism with mutant cells present in low proportions. This approach should identify tumor heterogeneity and help to distinguish between mosaic NF2 and schwannomatosis, since some NF2 patients with somatic mosaicism for an NF2 gene mutation fulfil the diagnostic criteria for schwannomatosis (Kehrer-Sawatzki et al., 2017).

• #26 Genetic Testing for Schwannomatosis – A Discussion with the Director of the UAB Medical Genomics Laboratory – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/blog/blog-archive/genetic-testing-for-schwannomatosis-a-discussion-with-the-director-of-the-uab-medical-genomics-laboratory

  The goal for tumor testing is to look for a shared pathogenic variant among tumors from anatomically different locations in the body. […] For more information about the UAB Medical Genomics Laboratory and its testing capabilities for schwannomatosis and all other forms of NF, please visit: NF2 Landing – Genetics | UAB

• #27 Diagnosis & Treatment – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/learn-about-nf/schwannomatosis/diagnosis-treatment

  Because schwannomatosis can be difficult to diagnose, its important to know that an accurate diagnosis of the disorder can only be made by a physician with expertise in the diagnosis and treatment of neurofibromatosis. Specific diagnostic criteria have been established based on a consensus of experts. […] Genetic testing is available for the SMARCB1 gene mutation, which is associated with some cases of schwannomatosis. Testing is also offered for another recently identified gene, LZTR1, responsible for some cases. At present, genetic testing does not reveal a mutation in all affected individuals, and there may be additional genes responsible for the disorder in some people yet to be discovered. However, the genetics and inheritance of schwannomatosis is more complex and less clear than for NF1 and NF2. A genetic counselor can provide guidance and information regarding the suitability of genetic testing.

• #28 Diagnosing Neurofibromatosis | NYU Langone Health

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

  Genetic testing is not required for the diagnosis of schwannomatosis and is not suggested for most people. Aside from SMARCB1 and LZTR1, there may be other genes causing the condition that have not yet been identified, limiting the usefulness of genetic testing. Genetic testing of the schwannoma tissue with a blood sample may be more informative.

• #29 What is Schwannomatosis (other)? | Nerve Tumours UK

  https://nervetumours.org.uk/what-are-nerve-tumours/schwannomatosis

  How is Schwannomatosis diagnosed? […] Schwannomas are non-cancerous tumours on nerve coverings and are characteristic of the rare conditions NF2-related-Schwannomatosis and Schwannomatosis. […] The clinical problems of Schwannomatosis overlap with NF2-related-Schwannomatosis (NF2). […] In Schwannomatosis, schwannomas occur infrequently on the hearing and balance nerve (vestibular schwannoma) and are only found on one side. […] Single meningiomas (tumours on the coverings on the nervous system) occur in some patients with Schwannomatosis but may be multiple in NF2. […] Ependymomas (spinal cord tumours) and eye problems do not occur in Schwannomatosis but are found in NF2.

• #30 ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-022-01086-x

  The GG recommended that unilateral vestibular schwannomas should not be considered an exclusion criterion for the diagnosis of schwannomatosis in the absence of proven germline or mosaic NF2. […] The guideline is intended to define the optimal diagnosis, clinical management and surveillance of people with a confirmed diagnosis of schwannomatosis.

• #31 Schwannomatosis – Neurofibromatosis Midwest

  https://www.nfmidwest.org/learn-about-nf/schwannomatosis/

  Individuals are considered to have probable schwannomatosis if they meet the following criteria: 1) Two or more schwannomas (with at least one that has been shown to be a schwannoma on a pathology report) without symptoms of eighth nerve dysfunction at age 30 years OR 2) Two or more schwannomas (with at least one that has been shown to be a schwannoma on a pathology report) in an anatomically limited distribution without symptoms of eighth nerve dysfunction at any age. […] Some people may have a segmental form of schwannomatosis, meaning that symptoms are limited to only one part of the body. […] It is important to distinguish between segmental schwannomatosis and NF2, as the symptoms of both can overlap. […] The full spectrum of symptoms is not yet known. […] Schwannomatosis may also cause numbness, tingling, or weakness due to nerve or spinal cord compression.

• #32 Schwannomatosis – FIT

  http://www.krebs-praedisposition.de/en/kompendium/schwannomatosis/

  Schwannomatosis Diagnosis […] Clinical Suspicion […] At least one schwannoma or one mixed nerve sheath tumor in the pathology report […] 2 non-intradermal schwannomas in the imaging […] Clinical Diagnostic Criteria […] At least one histologically confirmed schwannoma or hybrid nerve sheath tumor AND a pathogenic SMARCB1 or LZTR1 variant in an unaffected tissue (e.g. blood) or […] A shared pathogenic SMARCB1 or LZTR1 variant in two schwannomas or hybrid nerve sheath tumors […] If there are 2 non-intradermal schwannomas without histopathological confirmation, the tentative diagnosis is likely, especially in association with chronic pain. […] Segmental schwannomatosis: schwannomas on only one extremity or over 2 spinal segments (30%). […] […] […] Diagnosis of Schwannomatosis- What’s Next?

• #33 Schwannomatosis – FIT

  http://www.krebs-praedisposition.de/en/kompendium/schwannomatosis/

  Once diagnosed, it is recommended that a cancer predisposition specialist manage the patient. The following section explains whether cancer screening tests or other measures are necessary and how they should be performed. Some additional information, including links to support groups, is also included at the end of this page. […] […] […] Recommendations for Early Detection in Your Patients […] According to the latest AACR guidelines, the following screening tests are recommended for patients with LZTR1 and SMARCB1-associated schwannomatosis: […] Baseline: at 10 years of age or at diagnosis (whichever is later) […] Contrast-enhanced MRI of the head, including dedicated high-resolution imaging of the internal auditory canal (3 Tesla, 1-3mm slices) […] MRI of the spine […] Full body MRI (cannot replace other MRI scans)

• #34 Understanding Barriers to Diagnosis in a Rare, Genetic Disease: Delays and Errors Diagnosing Schwannomatosis | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.01.13.22269170v1.full-text

  Our research shows that prolonged times to schwannomatosis diagnosis are common, with a median time to diagnosis communication of 7.3 years in confirmed patients, 20% of whom were not diagnosed until 20 years after their first symptom. […] These estimates are even greater when considering the large number of patients who have not yet received a confirmed diagnosis of schwannomatosis. […] Only 7.3% of patients met the IRDIRC goal of diagnosing all rare disease patients within 1 year of presentation to medical care. […] We identified several disease-and patient-related factors associated with time to diagnosis, which at least in part were related to patients initial symptom appraisal and help-seeking. […] Misdiagnosis of schwannomatosis-related signs and symptoms were also common, with more than one-third of patients likely experiencing a misdiagnosis.

• #35 Understanding Barriers to Diagnosis in a Rare, Genetic Disease: Delays and Errors Diagnosing Schwannomatosis | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.01.13.22269170v1.full-text

  These results suggest that interventions in clinician education, genetic testing availability, expert review of pathology findings, and automatic triggers for genetics referrals may improve diagnosis in schwannomatosis. […] In this paper, we apply the NAM definition of diagnostic error to study schwannomatosis, a rare, neurogenetic disease characterized by the development of multiple benign nerve sheath tumors and severe, chronic pain. […] Previous data on diagnostic delay and misdiagnosis in schwannomatosis patients is limited but suggests these errors may occur frequently. […] To address these limitations, we systematically reviewed the medical records of patients with probable or confirmed schwannomatosis eventually seen at two specialized tertiary care clinics. […] Following the NAM definition of diagnostic error, we assessed the timeliness and accuracy of communication of a diagnosis of schwannomatosis in our cohort of patients by 1) calculating time to diagnosis of schwannomatosis and identifying predictors of diagnostic delay; and 2) determining the rate and types of misdiagnoses of schwannomatosis-related signs and symptoms.

• #36 Understanding Barriers to Diagnosis in a Rare, Genetic Disease: Delays and Errors Diagnosing Schwannomatosis | medRxiv

  https://www.medrxiv.org/content/10.1101/2022.01.13.22269170v1.full-text

  More widespread use of genetic testing may be the only reliable way to distinguish these possibilities, supporting recent recommendations by an international consensus panel for routine use of diagnostic genetic testing for all cases of NF2 and schwannomatosis. […] Given how rarely multiple nerve sheath tumors occur in the absence of a tumor predisposition syndrome, appearance of a second potential schwannoma should serve a trigger symptom to initiate neurogenetic consultation. […] Our study is the first comprehensive assessment of diagnostic performance in people with schwannomatosis seen at specialized, U.S.-based clinics. […] Our work highlights several target areas for improving diagnosis of schwannomatosis, including increasing clinician awareness of schwannomatosis and how it differs from other types of NF; instituting more widespread genetic testing for potential schwannomatosis cases and expert review of selected pathology findings; and testing new methods to automatically flag patients for genetic evaluation based on imaging and/or pathology findings.

• #37 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  A healthcare provider will diagnose NF2-related schwannomatosis (neurofibromatosis type 2) after a physical exam and testing. During the exam, theyll look for signs of the condition, learn more about your family medical history and ask questions about your symptoms. […] Imaging tests like an MRI can help them find tumors in your nervous system and skin. Other tests may include: […] While there isnt currently a cure for neurofibromatosis type 2, there have been multiple advances in diagnosing and treating NF2-related tumors. Your healthcare provider can direct you toward the best treatment available for your condition. Treatment could include: […] Its very important that your NF2 care is treated by a multidisciplinary team with experience caring for individuals with NF2. The treatment team includes:

• #38 Schwannomatosis – Neurofibromatosis Midwest

  https://www.nfmidwest.org/learn-about-nf/schwannomatosis/

  Affecting approximately one in 40,000 people, Schwannomatosis is genetically and clinically distinct from NF1 and NF2. […] Because so little is currently understood about schwannomatosis, it is difficult to determine the prognosis for people who are affected. […] It is very important for a person with schwannomatosis to be managed by a medical provider or team with experience in schwannomatosis care. […] It is very important to see physicians that are experienced with schwannomatosis, such as at an NF Clinic. […] Management for these people can include annual neurologic evaluation and possible imaging as recommended by an experienced schwannomatosis medical care provider. […] The diagnosis of schwannomatosis is made on the basis of clinical findings. […] Individuals are considered to have definite schwannomatosis if they meet the following criteria: 1) Two or more schwannomas (with at least one that has been shown to be a schwannoma on a pathology report). AND 2) Lack of radiographic evidence of vestibular nerve tumor on an imaging study performed after age 18 years.

• #39 Diagnostics | Special Issue : Neurofibromatosis and Schwannomatosis: Diagnosis and Management

  https://www.mdpi.com/journal/diagnostics/special_issues/IAMK5ZINX5

  Neurofibromatosis (NF) and Schwannomatosis (SWN) are complex genetic disorders that present a range of complications that significantly impact patients’ lives. […] Despite advances in research, the diagnosis and management of these conditions remain challenging. Common shortcomings include variability in clinical presentation, overlapping symptoms, limited treatment options, and a lack of comprehensive management guidelines. […] These shortcomings make it crucial to have comprehensive and multidisciplinary approaches to effectively diagnose and manage patients with these conditions and underscore the necessity for ongoing research and innovation in the field. We therefore invite you to contribute original research articles, case studies, and reviews that offer new insights, innovative diagnostic techniques, and novel management strategies to this Special Issue.

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