Materiały źródłowe

• #1 Peripheral Nerve Sheath Tumor: A Diagnostic and Therapeutic Challenge

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11031624/

  Peripheral nerve tumors are a group of rare soft tissue tumors of neuro-ectodermal origin. Although the majority of them are benign in nature, up to 10% can be malignant. The symptoms depend on the site, size, and structures compressed by the tumor. […] Methods used to diagnose peripheral nervous system tumors include plain radiographs, ultrasound examination, computed tomography, magnetic resonance imaging, and positron emission tomography. […] Treatment of peripheral nerve sheath tumors is predominantly surgical. […] Early diagnosis and referral to a specialist center are needed to achieve satisfactory outcomes while treating peripheral nerve tumors. Proliferative lesions should be treated surgically in specialist centers by experienced doctors with appropriate skills and equipment for microsurgical procedures to ensure full recovery.

• #1 Peripheral nerve tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors/diagnosis-treatment/drc-20355075

  To diagnose a peripheral nerve tumor, your health care provider will ask about your symptoms and medical history. You may undergo a general physical exam and a neurological exam. Several tests may help pinpoint the cause of your symptoms. […] A CT scan can help your provider determine how the tumor may be affecting you. […] If you have a nerve tumor, you may need a biopsy. A small sample of cells from the tumor is removed and analyzed. Depending on the tumor’s size and location, you may need to have medicine that numbs an area of the body, called local anesthesia, or medicine that puts you to sleep, called general anesthesia, during the biopsy. Sometimes a biopsy is the only way to determine whether a tumor is cancerous. […] It’s important to find a provider who is experienced in diagnosing and treating them. If needed, seek a second opinion.

• #1 Diagnosing Peripheral Nerve Sheath Tumors | Neurological Surgery

  https://neurosurgery.weillcornell.org/condition/peripheral-nerve-sheath-tumors/diagnosing-peripheral-nerve-sheath-tumors

  Diagnosis of a peripheral nerve sheath tumors involves begins with a comprehensive history to learn the evolution of the patients symptoms as well as the familys health history. The doctor will then perform a neurologic and physical exam to check for any signs of numbness, weakness, or abnormal reflexes, and examine the body for swelling or bumps. […] A thorough dermatologic exam for any skin lesions and a hearing test may be ordered, as well as blood tests and genetic testing, which may uncover certain inherited syndromes. […] There are several imaging tests that the medical team at Weill Cornell Medicine Brain and Spine Center can perform to diagnose a peripheral nerve sheath tumor, pinpoint its location, see what structures it is affecting, and decide on the best treatment options. […] Magnetic resonance imaging (MRI) uses a high-powered magnet without radiation to produce detailed, three-dimensional images of the nerves and surrounding tissue.

• #1 Peripheral nerve tumors – UpToDate

  https://www.uptodate.com/contents/peripheral-nerve-tumors

  Peripheral nerve tumors are a heterogeneous group of mostly benign tumors that are rare in the general population. Certain types, including neurofibromas and schwannomas, may occur sporadically or in association with neurofibromatosis (NF). […] Symptoms and signs of peripheral nerve tumors are caused by direct nerve invasion, involvement of surrounding tissues, or mass effect. There are no specific clinical presentations unique or even especially suggestive of a particular nerve tumor, with the exception of neurofibromatosis type 1 (NF1), NF2-related schwannomatosis (NF2) and schwannomatosis. […] Patients present for evaluation of peripheral nerve tumors because of a soft tissue mass, pain, or focal neurologic findings, approximately in that order of frequency. The duration and progression of symptoms or signs are important, as most benign tumors have a longer duration and a slow rate of progression, while malignant tumors tend to progress rapidly in size, amount of pain, and neurologic deficit.

• #1 Benign peripheral nerve tumor – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/diagnosis-treatment/drc-20504138

  To diagnose a peripheral nerve tumor, your healthcare professional runs tests to find where the tumor is located and what type of tumor it is. […] You might need one or more of the following tests. […] MRI. This is the preferred method for imaging peripheral nerve tumors. This scan uses a magnetic field and radio waves to produce a detailed 3D view of the nerves and surrounding tissue. It can help determine whether you have a tumor and whether the tumor is inside or outside the nerve. […] CT scan. A CT scanner rotates around the body to record a series of images. This test is not as useful as an MRI in diagnosing a peripheral nerve tumor. However, your healthcare professional might recommend it if you can’t have an MRI or if they need more details about the bone near the tumor. […] Electromyogram (EMG). This test records the electrical activity in a muscle when you try to move it. It is used to help locate the tumor and identify which nerves are involved.

• #1 Diagnosing Peripheral Nerve Sheath Tumors | Neurological Surgery

  https://neurosurgery.weillcornell.org/condition/peripheral-nerve-sheath-tumors/diagnosing-peripheral-nerve-sheath-tumors

  Positron emission tomography (PET) is a nuclear medicine study that creates multidimensional color images that reveal how a mass may be functioning relative to surrounding normal tissue by tracing levels of chemical uptake; can be combined with MRI or CT scans and is most useful in differentiating benign from malignant tumors. […] Electromyogram and nerve conduction studies (EMG/NCS) measure how effectively a nerve is relaying electrical impulses; detect the location and extent of damage in nerves and muscles. […] Ultrasound is a noninvasive test using sound waves to reveal a quick image of a mass deep to the skin and surrounding structures; can tell whether a mass is solid or fluid-filled, and what approximate size it is. […] Based on these imaging results, a biopsy may be required to take a small sample of tissue from the suspected tumor and sent to a pathology lab for further analysis before deciding next steps.

• #1 Magnetic resonance neurography appearance and diagnostic evaluation of peripheral nerve sheath tumors | Scientific Reports

  https://www.nature.com/articles/s41598-019-43450-w

  This article comprehensively reviews radiologic findings and illustrates the MRN features of PNSTs. […] MRI has many advantages, such as being multidimensional, providing multiple sequences and having good soft-tissue resolution. […] High-resolution 3-T MR neurography (MRN) is an effective technique for examining peripheral nerves. […] MRN can clearly show pathological and normal tissue characteristics and is the technology modality used to evaluate PNSTs because it has obvious advantages in diagnosing PNSTs and evaluating their relationship with the surrounding tissue structure. […] In our research, we reviewed and analyzed MRI conventional scanning imaging and neuroimaging of thirty cases of PNSTs confirmed by postoperative pathology or puncture biopsy. […] We found that contrast-enhanced scans significantly improved the background suppression effect and increased the contrast-noise ratio, thus displaying the length, continuity and morphology of the spinal nerve more prominently. […] 3D-STIR SPACE sequences and contrast-enhanced sequences can show the relationship between tumors and the spinal nerves. […] This technique will be of great clinical value for aiding early diagnoses and will provide guidance for the surgical treatment of PNSTs.

• #1 Benign peripheral nerve tumor – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/diagnosis-treatment/drc-20504138

  Nerve conduction study. You’re likely to have this test along with your EMG. It measures how quickly your nerves carry electrical signals to your muscles. […] Tumor biopsy. If imaging tests identify a nerve tumor, your healthcare professional might remove and study a small sample of cells from your tumor. This is known as a biopsy. Depending on the tumor’s size and location, you might need local or general anesthesia during the biopsy. The biopsy might be done with a needle with the help of imaging, or it might be done during surgery. […] Nerve biopsy. To help diagnose the type of tumor, your healthcare professional may take a nerve biopsy. This involves taking a small sample of the tissue and sending it to a lab, where it’s studied to look for signs of cancer.

• #1 Peripheral nerve tumors // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/peripheral-nerve-tumors

  Tumor biopsy. If you have a nerve tumor, you may need a biopsy. A small sample of cells from the tumor is removed and analyzed. Depending on the tumor’s size and location, you may need to have medicine that numbs an area of the body, called local anesthesia, or medicine that puts you to sleep, called general anesthesia, during the biopsy. Sometimes a biopsy is the only way to determine whether a tumor is cancerous. […] Nerve biopsy. A biopsy of the nerve may be needed in people who have certain conditions, such as progressive peripheral neuropathy and enlarged nerves that mimic nerve tumors. […] Peripheral nerve tumors aren’t common. It’s important to find a provider who is experienced in diagnosing and treating them. If needed, seek a second opinion.

• #1 When biopsy goes wrong: a case series of misdiagnoses and complications from biopsies of masses of unknown origin potentially originating from a peripheral nerve in: Journal of Neurosurgery Volume 140 Issue 2 (2023) Journals

  https://thejns.org/view/journals/j-neurosurg/140/2/article-p480.xml

  Biopsies of peripheral nerve tumors (PNTs) are often used to plan an efficient treatment strategy. However, performing a biopsy is controversial when the mass is likely to be a benign PNT (BPNT). The aim of this study was to evaluate the side effects of biopsies in patients with potential PNTs. […] The initial diagnosis obtained by biopsy differed from the final histopathological diagnosis in all patients, of whom 21 (87.5%) had BPNTs, 2 (8.3%) malignant peripheral nerve sheath tumors, and 1 (4.2%) an ancient schwannoma. […] Biopsies of PNTs are controversial and may result in misdiagnosis, neuropathic pain, or neurological deficit due to axonal damage, and they may also hinder microsurgical resection when if performed when not indicated. Indications for biopsy of an MUOPON must be carefully considered, especially if BPNT is a possible diagnosis.

• #1 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative – PubMed

  https://pubmed.ncbi.nlm.nih.gov/37046591/

  The 2021 WHO classification of the CNS Tumors identifies as „Peripheral nerve sheath tumors” (PNST) some entities with specific clinical and anatomical characteristics, histological and molecular markers, imaging findings, and aggressiveness. […] Tumor diagnosis is primarily based on hematoxylin and eosin-stained sections and immunohistochemistry. […] MRI is the gold-standard to delineate the extension with respect to adjacent structures. […] Gross-total resection is the first choice, and can be curative in benign lesions; however, the extent of resection must be balanced with preservation of nerve functioning. […] Systemic therapy should be considered in incomplete resected plexiform neurofibromas/MPNSTs. […] MEK inhibitor selumetinib can be used in NF1 children 2 years with inoperable/symptomatic plexiform neurofibromas, while anthracycline-based treatment is the first choice for unresectable/locally advanced/metastatic MPNST.

• #1 Malignant Peripheral Nerve Sheath Tumors: Differentiation Patterns and Immunohistochemical Features – A Mini-Review and Our New Findings

  https://www.jcancer.org/v03p0303.htm

  Additionally, MPNST with glandular differentiation must be differentiated from metastatic carcinoma. […] The prognosis is poorer in patients with rhabdomyosarcomatous differentiation, the 2-year and 5-year survival rates are 15% and 11%, respectively. […] The diagnosis of MPNST with multiple mesenchymal differentiations is difficult, and sometimes should be differentiated from rhabdomyosarcoma, osteosarcoma, chondrosarcoma or liposarcoma. […] Some neural markers, such as S-100, CD56 and protein gene product 9.5 (PGP 9.5) are considered sensitive markers for peripheral nerve sheath tumors. […] S-100, which is traditionally regarded as the best marker for MPNST, has limited diagnostic utility and is positive in only about 50-90% of the tumors. […] Recent studies suggest that nestin, which is an intermediate filament protein, is more sensitive for MPNST than other neural markers (S-100, CD56 and PGP 9.5) and immunostains for nestin in combination with other markers could be useful in the diagnosis of MPNST. […] Immunohistochemical staining showed that the spindle and grandular tumor components were positive for S-100. […] MPNST with glandular differentiations should be distinguished from other tumors with dual differentiation such as synovial sarcoma and mesothelioma.

• #1 Morphologic and immunohistochemical features of malignant peripheral nerve sheath tumors and cellular schwannomas | Modern Pathology

  https://www.nature.com/articles/modpathol2014109

  The presence of Schwannian whorls, a peritumoral capsule, subcapsular lymphocytes, macrophage-rich infiltrates, and the absence of fascicles favored the diagnosis of cellular schwannoma, while the presence of perivascular hypercellularity, tumor herniation into vascular lumens, and necrosis favor malignant peripheral nerve sheath tumor. […] Complete loss of SOX10, neurofibromin or p16 expression, or the presence of EGFR immunoreactivity was specific for malignant peripheral nerve sheath tumor. […] Expression of p75NTR was observed in 80% of malignant peripheral nerve sheath tumors compared with 31% of cellular schwannomas. […] Ki-67 labeling indices 20% were highly predictive of malignant peripheral nerve sheath tumor (87% sensitivity and 96% specificity). […] Taken together, the combinations of these histopathological and immunohistochemical features provide useful criteria to distinguish between malignant peripheral nerve sheath tumor and cellular schwannoma with high sensitivity and specificity.

• #1 Malignant Peripheral Nerve Sheath Tumors: Differentiation Patterns and Immunohistochemical Features – A Mini-Review and Our New Findings

  https://www.jcancer.org/v03p0303.htm

  Malignant peripheral nerve sheath tumors (MPNST) represent a group of highly heterogeneous human malignancies often with multiple histological origins, divergent differentiation patterns, and diverse immunohistochemical presentations. The differential diagnosis of MPNST from other spindle cell neoplasms poses great challenges for pathologists. […] The diagnosis of MPNST with multiple mesenchymal differentiations is difficult, and sometimes should be differentiated from rhabdomyosarcoma, osteosarcoma, chondrosarcoma or liposarcoma. […] In 5-10% of dedifferentiated liposarcomas, myoblasts, cartilage, and osteosarcomatous differentiation can be observed; however, the predominancy is composed of malignant fibrous histiocytoma and/or leiomyosarcoma, and the ordinary MPNST structure and epithelioid or glandular differentiations should not be visible, and medical history and tumor location are of keypoints for diagnosis.

• #1 Malignant peripheral nerve sheath tumor | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/malignant-peripheral-nerve-sheath-tumour?lang=us

  Malignant peripheral nerve sheath tumors (MPNSTs) are forms of peripheral nerve sheath tumors occurring either de novo or arising from pre-existing tumors (e.g. neurofibromas, schwannomas etc.). Approximately half of such tumors are seen in individuals with neurofibromatosis type I (NF1), in such cases arising from pre-existing neurofibromas. […] Diagnostic criteria according to the WHO classification of soft tissue and bone tumors (5th edition): essential: sarcoma arising from a nerve or pre-existing nerve sheath tumor or in an NF1 patient. […] Imaging criteria are generally considered unreliable in differentiating from a more benign neurofibroma or schwannoma and there are no features to differentiate MPNST from other sarcomas. However, general rules favoring an MPNST include: the larger the lesion, the more likely for it to be malignant; irregular borders (although most MPNSTs can have well-defined margins); rapid growth in interval imaging. […] MPNST are aggressive tumors that carry a poor prognosis, with 20-25% of patients developing metastases. Overall 5-year survival for sporadic tumors is 65%. Poor prognostic factors include NF1, large size, location on the trunk, high-grade histological features.

• #1 Malignant Peripheral Nerve Sheath Tumour – SFA

  https://curesarcoma.org/sarcoma-subtypes/malignant-peripheral-nerve-sheath-tumour/

  Recently, diagnostic criteria to distinguish these tumors from other types of NF1-associated nerve sheath tumors have been established. […] Essential: sarcoma arising from a nerve or pre-existing nerve sheath tumor or in a patient with NF1; tumors with a spindle fascicular growth, geographical necrosis, and often a limited degree of nuclear pleomorphism; in the sporadic setting, diagnosis is most often based on the identification of Schwann cell differentiation (S100/SOX10 focal positivity) and/or loss of H3K27me3 expression in a soft tissue mass; heterologous elements in a sarcoma should suggest MPNST; epithelioid MPNSTs occur outside the NF1 setting and often show diffuse S100 and SOX10 positivity and loss of SMARCB1 expression.

• #1 Radiological findings of malignant peripheral nerve sheath tumor: reports of six cases and review of literature | World Journal of Surgical Oncology | Full Text

  https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0899-0

  Malignant peripheral nerve sheath tumor (MPNST) is a kind of rare neurogenic tumor. The aim of the article is to assess the imaging characteristics of MPNST and compare them with those of benign peripheral nerve sheath tumor (BPNST) to characterize this tumor. […] MR imaging is a valuable, non-invasive modality for the diagnosis of MPNST. Peripheral enhancement with non-cystic appearance or remarkable heterogeneous enhancement may be useful for differential diagnosis. Other imaging features such as large size (over 5 cm in diameter), ill-defined margin, intratumoral lobulation, peritumoral edema, and adjacent bone destruction are also supportive of MPNST. […] MPNST has diversity in imaging manifestations. Peripheral enhancement with non-cystic appearance and obvious heterogeneous enhancement may be valuable in diagnosis. Besides that, we believe, several points could be helpful to differentiate MPNST from BPNST: (1) over 5 cm in size and ill-defined, (2) peritumoral edema, when located superficially, (3) intratumoral lobulation, (4) absence of target sign, and (5) bone destruction is an indicative for malignancy.

• #1

  https://link.springer.com/article/10.1007/s10143-023-02107-z

  A benign peripheral nerve sheath tumor (bPNST) is a rare lesion associated with peripheral nerval structures. Symptoms may be heterogeneous, complicating diagnosis finding. […] Therefore, we analyzed patients treated for bPNST in our specialized institution with a primary focus on prior misdiagnosis and possible mistreatment. […] Assessment of demographics, tumor entity, tumor location, symptoms, the interval between the onset of symptoms and surgery, involved medical specialties, and outpatients treatment, with particular focus on initial misdiagnosis and inappropriate medical treatment, was performed. […] An incorrect primary diagnosis was detected in 44.7%, leading to suboptimal or insufficient treatment in these cases. […] For the first time, our data shows the quantity and impact of incorrect initial diagnosis in bPNST causing a delay in causative treatment or resulting in unnecessary or potentially harmful treatment.

• #1

  https://link.springer.com/article/10.1007/s10143-023-02107-z

  Prolonged conservative treatment was present in 28.9%, resulting in pronounced neurological handicaps in two cases and neuropathic pain syndrome in five patients. […] Furthermore, an unnecessary surgical treatment unrelated to the bPNST was performed in 26.3%. […] Surgical removal or partial removal of the bPNST was performed using an inappropriate surgical technique (non-microsurgical and without intraoperative electrophysiological testing) in 26.3%. […] Misdiagnosis and mistreatment showed a significant correlation with the treating specialist. […] Our study presents data on rates of initial misdiagnosis and mistreatment in patients with bPNST. […] The misinterpretation of a symptom and/or the radiological imaging may lead to unnecessary or inappropriate surgical treatment unrelated to the actual disease or to a more radical surgical treatment. […] Treatment should be performed only at a specialized center.

• #1 Practical Approach to Histological Diagnosis of Peripheral Nerve Sheath Tumors: An Update

  https://www.mdpi.com/2075-4418/12/6/1463

  Peripheral nerve sheath tumors encompass a wide spectrum of lesions with different biological behavior, including both benign and malignant neoplasms as well as the recent diagnostic category, i.e., “atypical neurofibromatous neoplasm with uncertain biologic potential” to be used only for NF1 patients. […] The present review focuses on the pathological diagnostic clues of the most common benign and malignant peripheral nerve sheath tumors to aid pathologists in achieving a correct classification. […] Awareness by surgical pathologists of the wide morphological spectrum of these tumors and their development in the context of tumor-predisposing syndromes is crucial for providing correct prognostic information and planning the clinical/radiological follow-up of patients. […] The current pathological classification of the peripheral nerve sheath tumors includes both benign and malignant tumors, with the recent addition of a diagnostic category, i.e., “atypical neurofibromatous neoplasm with uncertain biologic potential (ANNUBP)” to be used only for patients with NF1.

• #1 Practical Approach to Histological Diagnosis of Peripheral Nerve Sheath Tumors: An Update

  https://www.mdpi.com/2075-4418/12/6/1463

  The majority of neurofibromas occur in the skin and arise from small-sized nerves. […] The incidence of malignant transformation into malignant peripheral nerve sheath tumors is unknown, but it is very low for cutaneous tumors, while intraneural lesions, especially in NF1 patients, may occasionally represent the morphological precursor. […] Although surgical excision with free margins is usually curative, these lesions can be difficult to be excised in their entirety, and patients should be aware of the possibility of local recurrence. […] The risk of malignant transformation into a malignant peripheral nerve sheath tumor is very low (if any) in isolated/solitary cutaneous/nodular or diffuse neurofibromas, it is well-documented in NF1-associated intraneural and/or plexiform neurofibromas.

• #1 Practical Approach to Histological Diagnosis of Peripheral Nerve Sheath Tumors: An Update

  https://www.mdpi.com/2075-4418/12/6/1463

  The lifetime risk for the development of MPNST in NF1 patients has been calculated as 8–16% in two population-based studies. […] The diagnosis of malignant transformation is straightforward in that it is represented by a high-grade sarcoma, often arising abruptly from areas of classic neurofibroma into hypercellular areas with diffuse cytological atypia, increased mitotic activity (often >10 mitoses/10 HPF), and/or tumor necrosis. […] The importance of a correct diagnosis of plexiform neurofibroma relies not only on its association with NF1 but also in its highest risk of malignant transformation among all types of neurofibromas. […] The term “atypical neurofibromatous neoplasm with uncertain biologic potential (ANNUBP)” has been recently coined for a subset of NF1-associated neurofibromatous tumors that exhibit at least two of the following features: (i) nuclear atypia; (ii) hypercellularity; (iii) increased mitotic activity (>1 mitosis/50 HPF but <3 mitoses/10 HPF); and (iv) a variable loss of neurofibroma architecture. [...] If the radiological suspicion of malignancy is high, a close clinical follow-up and/or additional bioptic sampling is necessary.

• #1 Pediatric Malignant Peripheral Nerve Sheath Tumors – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/malignant-peripheral-nerve-sheath-tumors

  Malignant peripheral nerve sheath tumors (tumors that develop in the cells surrounding the nerves on the brain and spinal cord) may occur in up to 5% of patients with neurofibromatosis during their lifetime. […] Diagnosing a malignant transformation of a peripheral nerve sheath tumor can be difficult. A tumor may become malignant if an MRI scan shows significant enlargement or new enhancement (dye being taken up) of a portion of the tumor. A PET scan (positron emission tomography) can be useful if a portion of the growth is found to be 'hot’ (metabolically active) on the PET scan. Often, at least a biopsy (removing cells or tissue to examine them), if not an excision (completely removing a tissue, organ or tumor from the body) is required to confirm the diagnosis of a malignant peripheral nerve sheath tumor. In cases where diagnosis is unclear, at least a biopsy should be performed to rule out malignant transformation.

• #1 Malignant Peripheral Nerve Sheath Tumor (MPNST)

  https://my.clevelandclinic.org/health/diseases/malignant-peripheral-nerve-sheath-tumor-mpnst

  Researchers are studying immunotherapy or targeted therapy as potential new or additional treatments. […] Your prognosis is what your healthcare team believes will happen after you finish treatment. […] The prognosis for people with NF1 who have these tumors is less positive than the prognosis for people who dont have NF1. […] Pathologists classify tumors as being high-grade or low-grade, based on how cells appear when viewed under a microscope. […] MPNSTs may grow up to 10 centimeters. […] Tumors that spread from where they started are more difficult to treat. […] Survival rates are estimates based on other peoples experiences with malignant peripheral nerve sheath tumors.

• #1 Malignant peripheral nerve sheath tumors (MPNST) – Clinicopathological study and treatment outcome of twenty-four cases | World Journal of Surgical Oncology | Full Text

  https://wjso.biomedcentral.com/articles/10.1186/1477-7819-4-55

  Malignant peripheral nerve sheath tumor (MPNST) is biologically an aggressive tumor for which the treatment of choice is the surgery. We reviewed the clinical profile, diagnostic methods, treatment patterns, and outcome of twenty-four MPNST patients in this study. […] A combination of gross, histopathological and immunohistochemical findings, and proliferation markers (MIB1) were considered for diagnosis and grade of the MPNST. […] Thus, a combination of gross, histopathological, and immunohistochemical studies are used for diagnosing these tumors. […] In our series, grade of the tumor emerged as the significant prognostic factor for overall survival. Likewise, cellular differentiation emerged as a significant prognostic factor for disease free survival in both univariate and multivariate analysis.

• #1 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative

  https://www.mdpi.com/2072-6694/15/7/1930

  Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative […] The EUropean Network for RAre CANcers (EURACAN) Task Force on Ultrarare Brain Tumors (domain 10, subdomain 10) has reviewed the evidence of diagnostic and therapeutic interventions and drawn recommendations on peripheral and cranial nerve sheath tumors. […] The Task Force has reviewed the evidence of diagnostic and therapeutic interventions, which is particularly low due to the rarity, and drawn recommendations accordingly. Tumor diagnosis is primarily based on hematoxylin and eosin-stained sections and immunohistochemistry. […] MRI is the gold-standard to delineate the extension with respect to adjacent structures. […] Radiotherapy can be omitted in benign tumors after complete resection and in NF-related tumors, due to the theoretic risk of secondary malignancies in a tumor-suppressor syndrome. […] Clinical trials on other MEK1-2 inhibitors alone or in combination with mTOR inhibitors are under investigation in plexiform neurofibromas and MPNST, respectively. […] The EUropean Network for RAre CANcers (EURACAN) established a multidisciplinary task force to develop expert recommendations on “peripheral and cranial nerve sheath tumors”. […] The current WHO classification provides exact criteria for NF vs. ANNUBP and MPNST. […] The presence of multiple neurofibromas or PN is strongly suggestive of NF1, especially when associated with typical findings. […] The frequency of surveillance imaging with MRI should be based on the extent of resection (GTR vs. non-GTR) and tumor aggressiveness, and the duration should be up to 5 years in PNST. […] In patients with recurrent plexiform neurofibromas or MPNST who are no longer eligible for local treatments, enrollment in clinical trials might be warranted, particularly in patients with a good performance status.

• #1 Nerve Sheath Tumors: Definition & Types

  https://my.clevelandclinic.org/health/diseases/22526-nerve-sheath-tumors

  Nerve sheath tumors usually affect your peripheral nervous system. […] Tests your healthcare provider may recommend to evaluate an observed or suspected tumor include: Medical imaging, including MRI, ultrasound and PET scans to see the tumor. […] Removal of a sample of tissue for microscopic examination (biopsy) to find out what kinds of cells are in the tumor. Thisll determine if the tumor is cancerous. […] If a nerve sheath tumor isnt causing symptoms, your healthcare provider may choose to watch and wait. Routine monitoring will reveal if the tumor is growing or changing. […] For symptomatic tumors, or if you want the tumor removed for cosmetic reasons, surgery is usually the only option. […] Most nerve sheath tumors are noncancerous. Theyre treatable with surgery and rarely come back. If your tumor cant be completely removed surgically, youll require ongoing monitoring.

• #1 Nerve Sheath Tumors: Definition & Types

  https://my.clevelandclinic.org/health/diseases/22526-nerve-sheath-tumors

  The risk of nerve sheath tumors becoming cancerous is very low. The greatest risk is for people with NF1 who develop plexiform neurofibroma. Malignant peripheral nerve sheath tumors have a poor prognosis, especially if the tumor is larger than 2 inches. Fewer than half of people with this condition live five years after diagnosis.

• #1 Malignant Peripheral Nerve Sheath Tumor (MPNST)

  https://my.clevelandclinic.org/health/diseases/malignant-peripheral-nerve-sheath-tumor-mpnst

  A healthcare provider will perform a physical exam and assess your overall health. This includes a review of your medical history, family history and symptoms. They may do: […] Providers may do magnetic resonance imaging (MRI) and positron emission tomography (PET) scans. […] Providers may do a biopsy to obtain tissue for a medical pathologist to examine under a microscope. […] If you have a malignant peripheral nerve sheath tumor, your provider may recommend you and close family members have genetic tests to find out if you or they have neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (schwannomatosis), another type of nerve sheath tumor. […] Healthcare providers typically do surgery to remove a malignant peripheral nerve sheath tumor. […] Providers may treat MPNST by combining surgery and chemotherapy or radiation therapy.

• #1 Peripheral Nerve Sheath Tumors | Conditions | Penn State Health

  https://www.pennstatehealth.org/services-treatments/peripheral-nerve-sheath-tumors

  Peripheral nerve sheath tumors begin when a cell in the protective nerve lining develops a mutation, multiplying the cells and creating a tumor. […] If your physician suspects you have peripheral nerve sheath tumors, he or she will order tests to confirm the diagnosis. Peripheral nerve sheath tumors can be seen in the following diagnostic imaging: Classic appearance on MRI scans, Visible on ultrasound or CT imaging, Biopsy of the affected area is rarely needed. […] Our expert team at Penn State Health will assess your peripheral nerve sheath tumor and use diagnostic testing to determine if it is malignant or benign.

• #1 Malignant Peripheral Nerve Sheath Tumor – NCI

  https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/mpnst

  MPNST is more common in people with a genetic condition called neurofibromatosis type 1 (NF1). […] If you have symptoms of MPNST your doctor will use scans such as MRI, CT, and PET to see where the tumor is and how big it is. […] To check if the tumor is MPNST your doctor will do a biopsy, taking a small sample from the tumor with a needle. An expert, called a pathologist, will study cells from the sample under the microscope and run other tests to see what kind of tumor it is. […] It is very important to work with a team of experts as soon as possible after diagnosis to improve your chances of survival.

• #1 Pathology Outlines – Schwannoma

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

  Benign nerve sheath tumor arising from differentiated Schwann cells […] Histologic findings in the appropriate clinical and imaging context […] Well circumscribed masses that displace adjacent structures without direct invasion […] Most cases have an indolent course […] Malignant transformation is exceedingly rare: […] Surgical excision is the treatment of choice […] Local recurrence is uncommon

• #1 PERIPHERAL NERVE TUMORS – Dr Prem Pillay

  https://singaporebrain.org/en/nerves/peripheral-nerve-tumors/

  Peripheral nerve tumors are a heterogeneous group of neoplasms that arise from or affect nerves outside the brain and spinal cord. According to the 2021 WHO classification of the Central Nervous System (CNS), peripheral nerve sheath tumors (PNSTs) comprise a set of unique entities each with specific clinical, anatomical, histological, and molecular features. […] Imaging studies are central in delineating the location and extent of the tumor. […] Considered the gold standard for visualizing peripheral nerve tumors, MRI provides high-resolution images that can define the relationship between the tumor and adjacent structures. […] A core or excisional biopsy is typically performed to confirm histopathology, determine tumor grade, and guide treatment decisions. […] Accurate diagnosis via imaging and biopsy, alongside precision surgical techniques, can often lead to remission in benign lesions and offer the best chance for disease control in malignant ones.

• #1 Peripheral Nerve Sheath Tumor: A Diagnostic and Therapeutic Challenge

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11031624/

  All patients underwent MRI to define the tumor and aid in surgical planning. […] The surgeries were performed under loupe magnification (3.5X) in order to help preserve the adjacent neurovascular bundle and prevent any permanent neurological deficits. […] Five of the eight lesions were schwannoma on histopathology, two revealed neurofibroma, and one showed malignant histology. […] Post-operatively, the first assessment showed clinical improvement in Hoffman Tinel signs in all six subjects who had a positive sign pre-operatively. […] Pain relief was observed in all patients, but 37.5% (three cases) had incomplete relief of symptoms, and the Hoffman Tinel sign was negative in six out of seven (85%) patients who presented these symptoms before the operation. […] No tumor recurrence after surgical treatment has been recorded over a mean follow-up period of 24 months in our case series. […] Early diagnosis and prompt referral for specialist care are paramount in swift and successful treatment of these rare tumors.

• #2

  https://www.advocatehealth.com/health-services/brain-spine-institute/peripheral-nerve-tumors

  Your doctor will perform a physical exam and gather your family medical history. Theyll want to know about the duration and intensity of your potential peripheral nerve tumor symptoms. Theyll order imaging tests such as MRI, CT, PET or ultrasound based on which ones will provide better information about your potential tumor and surrounding tissues. […] Your doctor is likely to recommend a surgical biopsy to confirm the diagnosis. A pathologist will examine the biopsy and provide information about the appearance of the cells to help identify the type of tumor.

• #2 Diagnosis and Treatment of Peripheral and Cranial Nerve Tumors with Expert Recommendations: An EUropean Network for RAre CANcers (EURACAN) Initiative – PubMed

  https://pubmed.ncbi.nlm.nih.gov/37046591/

  The 2021 WHO classification of the CNS Tumors identifies as „Peripheral nerve sheath tumors” (PNST) some entities with specific clinical and anatomical characteristics, histological and molecular markers, imaging findings, and aggressiveness. […] Tumor diagnosis is primarily based on hematoxylin and eosin-stained sections and immunohistochemistry. […] MRI is the gold-standard to delineate the extension with respect to adjacent structures. […] Gross-total resection is the first choice, and can be curative in benign lesions; however, the extent of resection must be balanced with preservation of nerve functioning. […] Systemic therapy should be considered in incomplete resected plexiform neurofibromas/MPNSTs. […] MEK inhibitor selumetinib can be used in NF1 children 2 years with inoperable/symptomatic plexiform neurofibromas, while anthracycline-based treatment is the first choice for unresectable/locally advanced/metastatic MPNST.

• #2 Peripheral nerve tumors // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/peripheral-nerve-tumors

  To diagnose a peripheral nerve tumor, your health care provider will ask about your symptoms and medical history. You may undergo a general physical exam and a neurological exam. Several tests may help pinpoint the cause of your symptoms. […] Magnetic resonance imaging (MRI). This scan uses a magnet and radio waves to produce a detailed 3D view of nerves and tissue. […] Computerized tomography (CT). A CT scanner rotates around the body to take a series of images. A computer uses the image to make a detailed view of the peripheral nerve tumor. A CT scan can help your provider determine how the tumor may be affecting you. […] Electromyogram (EMG). For this test, small needles are placed in the muscles. An instrument records the electrical activity in the muscle as they’re moved. […] Nerve conduction study. This test is often done with an EMG. It measures how fast the nerves carry electrical signals to the muscles.

• #2 What Are Malignant Peripheral Nerve Sheath Tumors?

  https://www.rwjbh.org/treatment-care/neuroscience/neurology/conditions/malignant-peripheral-nerve-sheath-tumors/

  Diagnosing malignant peripheral nerve sheath tumors may include: […] Physical and neurological exams […] Imaging […] Ultrasound […] Magnetic resonance imaging (MRI) […] Positron emission tomography (PET) […] Biopsy. […] These same tests may be done to assess whether cancer has spread.

• #2 Peripheral nerve tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors/diagnosis-treatment/drc-20355075

  To diagnose a peripheral nerve tumor, your health care provider will ask about your symptoms and medical history. You may undergo a general physical exam and a neurological exam. Several tests may help pinpoint the cause of your symptoms. […] A CT scan can help your provider determine how the tumor may be affecting you. […] If you have a nerve tumor, you may need a biopsy. A small sample of cells from the tumor is removed and analyzed. Depending on the tumor’s size and location, you may need to have medicine that numbs an area of the body, called local anesthesia, or medicine that puts you to sleep, called general anesthesia, during the biopsy. Sometimes a biopsy is the only way to determine whether a tumor is cancerous. […] It’s important to find a provider who is experienced in diagnosing and treating them. If needed, seek a second opinion.

• #2 When biopsy goes wrong: a case series of misdiagnoses and complications from biopsies of masses of unknown origin potentially originating from a peripheral nerve in: Journal of Neurosurgery Volume 140 Issue 2 (2023) Journals

  https://thejns.org/view/journals/j-neurosurg/140/2/article-p480.xml

  The efficacy and necessity of biopsies prior to surgical excision, as an adjunct to imaging, is not always straightforward. If the mass appears to be a clinically benign PNT (BPNT), biopsy is not always warranted. […] The precise identification of a PNT can be challenging when there is insufficient tissue, a lack of specific morphological criteria, the absence of an experienced neuropathologist, or any combination of these. […] Our study is the first to discuss the misdiagnosis of MUOPON based on biopsies, because all our patients had either an inconclusive or erroneous diagnosis based on their examination. Misdiagnosis may lead to the need for a new biopsy procedure or to nononcological management for lesions that are actually malignant. […] The indications of biopsy are well documented, mostly when a malignancy is suspected, but the removal of tissue for analysis in cases of a probable benign masses is controversial. Our experience, as well as that of other authors, indicates that the risks of iatrogenic nerve damage and misdiagnosis are considerable and should be balanced with any potential benefits.

• #2

  https://link.springer.com/article/10.1007/s10143-023-02107-z

  Prolonged conservative treatment was present in 28.9%, resulting in pronounced neurological handicaps in two cases and neuropathic pain syndrome in five patients. […] Furthermore, an unnecessary surgical treatment unrelated to the bPNST was performed in 26.3%. […] Surgical removal or partial removal of the bPNST was performed using an inappropriate surgical technique (non-microsurgical and without intraoperative electrophysiological testing) in 26.3%. […] Misdiagnosis and mistreatment showed a significant correlation with the treating specialist. […] Our study presents data on rates of initial misdiagnosis and mistreatment in patients with bPNST. […] The misinterpretation of a symptom and/or the radiological imaging may lead to unnecessary or inappropriate surgical treatment unrelated to the actual disease or to a more radical surgical treatment. […] Treatment should be performed only at a specialized center.

• #2 Malignant Peripheral Nerve Sheath Tumor – NCI

  https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/mpnst

  MPNST is more common in people with a genetic condition called neurofibromatosis type 1 (NF1). […] If you have symptoms of MPNST your doctor will use scans such as MRI, CT, and PET to see where the tumor is and how big it is. […] To check if the tumor is MPNST your doctor will do a biopsy, taking a small sample from the tumor with a needle. An expert, called a pathologist, will study cells from the sample under the microscope and run other tests to see what kind of tumor it is. […] It is very important to work with a team of experts as soon as possible after diagnosis to improve your chances of survival.

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