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Objective: To evaluate the role of weekly neurofibromatosis (NF) multi-disciplinary conferences (MDC) on the diagnostic and therapeutic plan for patients with NF type 1 (NF1) and schwannomatosis (SWN). Materials and methods: This retrospective study reviewed patients with confirmed or suspected NF1 and SWN discussed in weekly MDC from March to July 2021. Demographic data collected included patient age, sex, pre-conference and post-conference diagnosis, radiological studies reviewed, and provider specialties in attendance. Outcomes reported included changes in imaging interpretation and treatment plans, changes in post-conference diagnosis relative to pre-conference diagnosis, and time to completion of the recommended change in treatment. Results: Data from 17 MDC "pre-conference" lists included 75 patients (38 female, 37 males, mean age (years): 38 (range: 6–80)) with NF1 (52%, 39/75) and SWN (36%, 27/75) discussed over a total of 91 case reviews. 18.7% (14/75) of all patients had NF2-related SWN, and 17.3% (13/75) of all patients had non-NF2 SWN. The MDC led to changes in imaging interpretation in 18.7% and changes in patient management in 74.7% (diagnostic testing (n = 52), surgical plan (n = 24), medical treatment (n = 9), clinical trial status (n = 4), and radiation treatment (n = 1)) of cases. Among patients for whom a change in management was recorded, 91% (62/68) completed at least one recommendation (mean time to completion (days): 41.4 (range: 0–278)). Conclusion: Weekly MDC changes the diagnostic and therapeutic management of the majority of patients discussed (74.7%) and promotes a high adherence rate to recommendations (91%). [ABSTRACT FROM AUTHOR]

Intraoperative nerve action potential (NAP) recording permits direct study of an injured nerve for functional assessment of lesions in continuity. Stimulus artifact contamination often hampers NAP recording and interferes with its interpretation. In the present study, we evaluated the artifact reduction method using alternating polarity in peripheral nerve recording. Our study was conducted under controlled conditions in laboratory animals. NAPs were recorded from surgically exposed median or ulnar nerves. For the artifact reduction method with alternating polarity, two sequential recordings, one with normal and one with reversed stimulus polarity, were acquired and the signals from this recording pair were averaged. Simulation was also performed to further evaluate the effects of alternating polarity on the waveforms. The results are as follows: First, we found that this method worked for recordings with unsaturated electrical stimulus artifacts. Second, slightly unequal latencies occurred in an NAP pair, and this inequality contributed to a minimal loss of NAP amplitudes when averaging the two recordings. Third, perfect artifact cancelation and minimal signal loss were also demonstrated by simulation. Finally, we applied the method during nerve inching and demonstrated its usefulness in intraoperative NAP recordings as the method made the recording more resilient to short conduction distances. Thus, our findings demonstrate that this artifact reduction method can be used as a supplemental tool together with our previously described bridge grounding technique or the nonlifting nerve recording configuration to further improve intraoperative peripheral nerve recording. The method can be applied in clinical settings. [ABSTRACT FROM AUTHOR]

Objective: To describe and illustrate the magnetic resonance imaging (MRI) anatomy of the anterior femoral cutaneous nerve (AFCN) and a new technique for cryoanalgesia of the AFCN for long-term analgesic treatment of recalcitrant AFCN-mediated neuropathic pain.Materials and Methods: Using a procedural high-resolution MRI technique, we describe the MRI anatomy of the AFCN. Three patients (mean age, 48 years; range, 41-67 years) with selective nerve block-verified recalcitrant AFCN-mediated anterior thigh pain were enrolled to undergo cryoanalgesia of the AFCN. Procedures were performed under MRI guidance using clinical wide-bore MR imaging systems and commercially available cryoablation system with MR-conditional probes. Outcome variables included technical success, clinical effectiveness including symptom relief measured on an 11-point visual analog scale, frequency of complications, and procedure time.Results: Procedural MRI allowed to successfully demonstrate the course of the AFCN, accurate cryoprobe placement, and monitoring of the ice ball, which resulted in technically successful iceball growth around the AFCN in all cases. All procedures were clinically effective, with median pain intensity decreasing from 8 (7-9) before the procedure to 1 (0-2) after the procedure. The cryoanalgesia effect persisted during a 12-month follow-up period in all three patients. No major complications occurred. The average total procedure time was 98 min (range, 85-125 min).Conclusion: We describe the MRI anatomy of the AFCN and a new technique for cryoanalgesia of the AFCN using MRI guidance, which permits identification of the AFCN, selective targeting, and iceball monitoring to achieve long-term AFCN-mediated neuropathic pain relief. [ABSTRACT FROM AUTHOR]

Nerve sheath tumors occur as a heterogeneous group of neoplasms in patients with neurofibromatosis type 1 (NF1). The malignant form represents the most common cause of death in people with NF1, and even when benign, these tumors can result in significant disfigurement, neurologic dysfunction, and a range of profound symptoms. Lack of human tissue across the peripheral nerve tumors common in NF1 has been a major limitation in the development of new therapies. To address this unmet need, we have created an annotated collection of patient tumor samples, patient-derived cell lines, and patient-derived xenografts, and carried out high-throughput genomic and transcriptomic characterization to serve as a resource for further biologic and preclinical therapeutic studies. In this work, we release genomic and transcriptomic datasets comprised of 55 tumor samples derived from 23 individuals, complete with clinical annotation. All data are publicly available through the NF Data Portal and at http://synapse.org/jhubiobank. Measurement(s) gene expression • gene_variant Technology Type(s) RNA sequencing • exome sequencing • DNA sequencing Factor Type(s) tumor type Sample Characteristic - Organism Homo sapiens • Homo sapiens/Mus musculus xenograft Machine-accessible metadata file describing the reported data: 10.6084/m9.figshare.12037599 [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are three clinically distinct tumor predisposition syndromes with a shared tendency to develop peripheral and central nervous system neoplasms. Disease expression and complications of NF1, NF2, and SWN are highly variable, necessitating a multidisciplinary approach to care in order to optimize outcomes. This review will discuss the imaging appearance of NF1, NF2, and SWN and highlight the important role that imaging plays in informing management decisions in people with tumors associated with these syndromes. Recent technological advances, including the role of both whole-body and localized imaging strategies, routine anatomic and advanced magnetic resonance (MR) imaging sequences such as diffusion-weighted imaging (DWI) with quantitative apparent diffusion coefficient (ADC) mapping, and metabolic imaging techniques (MR spectroscopy and positron emission testing) are discussed in the context of the diagnosis and management of people with NF1, NF2, and SWN based on the most up-to-date clinical imaging studies. [ABSTRACT FROM AUTHOR]

Objective: To assess the quality and accuracy of metal artifact reduction sequence (MARS) magnetic resonance imaging (MRI) for the diagnosis of lumbosacral neuropathies in patients with metallic implants in the pelvis.Materials and Methods: Twenty-two subjects with lumbosacral neuropathy following pelvic instrumentation underwent 1.5-T MARS MRI including optimized axial intermediate-weighted and STIR turbo spin echo sequences extending from L5 to the ischial tuberosity. Two readers graded the visibility of the lumbosacral trunk, sciatic, femoral, lateral femoral cutaneous, and obturator nerves and the nerve signal intensity of nerve, architecture, caliber, course, continuity, and skeletal muscle denervation. Clinical examination and electrodiagnostic studies were used as the standard of reference. Descriptive, agreement, and diagnostic performance statistics were applied.Results: Lumbosacral plexus visibility on MARS MRI was good (4) or very good (3) in 92% of cases with 81% exact agreement and a Kendall's W coefficient of 0.811. The obturator nerve at the obturator foramen and the sciatic nerve posterior to the acetabulum had the lowest visibility, with good or very good ratings in only 61% and 77% of cases respectively. The reader agreement for nerve abnormalities on MARS MRI was excellent, ranging from 95.5 to 100%. MARS MRI achieved a sensitivity of 86%, specificity of 67%, positive predictive value of 95%, and negative predictive value of 40%, and accuracy of 83% for the detection of neuropathy.Conclusion: MARS MRI yields high image quality and diagnostic accuracy for the assessment of lumbosacral neuropathies in patients with metallic implants of the pelvis and hips. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the impact of magnetic resonance neurography (MRN) on diagnostic thinking and therapeutic choices in patients with suspected peripheral neuropathy.Methods: IRB approval was obtained for this HIPAA-compliant study. Questionnaires were administered to six surgeons regarding the diagnosis and treatment in 85 patients suspected of having peripheral neuropathy, before (pretest) and after (posttest) MRN. Multiple outcome measures related to diagnostic confidence and surgical decision-making were assessed.Results: The final cohort included 81 patients (30 men and 51 women, age 47 ± 17 years). The following changes were observed from pretest to posttest questionnaires: 23% in nerve involvement (P < 0.05), 48% in degree of confidence of nerve involvement (P < 0.01), 27% in grade of injury (P < 0.05), 33% in differential diagnosis (P < 0.05), 63% in degree of confidence in need for surgery (P < 0.001), 41% in timing of surgery (P < 0.01), 30% in approach to surgery (P < 0.05), 58% in degree of confidence in approach to surgery (P < 0.001), 30% in estimated length of surgery (P < 0.05) and 27% in length of incision (P < 0.05). The dichotomous decision regarding surgical or nonsurgical treatment changed from pro to con in 17%.Conclusion: MRN results significantly influenced the diagnostic thinking and therapeutic recommendations of peripheral nerve surgeons.Key Points: • In patients with peripheral neuropathy, MRN significantly impacts diagnostic thinking. • In patients with peripheral neuropathy, MRN significantly impacts therapeutic choices. • 3-T MRN should be considered in presurgical planning of patients with peripheral neuropathy. [ABSTRACT FROM AUTHOR]

Objectives: To describe the MRI appearance of traumatic neuromas on non-contrast and contrast-enhanced MRI sequences.Methods: This IRB-approved, HIPAA-compliant study retrospectively reviewed 13 subjects with 20 neuromas. Two observers reviewed pre-operative MRIs for imaging features of neuroma (size, margin, capsule, signal intensity, heterogeneity, enhancement, neurogenic features and denervation) and the nerve segment distal to the traumatic neuroma. Descriptive statistics were reported. Pearson's correlation was used to examine the relationship between size of neuroma and parent nerve.Results: Of 20 neuromas, 13 were neuromas-in-continuity and seven were end-bulb neuromas. Neuromas had a mean size of 1.5 cm (range 0.6-4.8 cm), 100 % (20/20) had indistinct margins and 0 % (0/20) had a capsule. Eighty-eight percent (7/8) showed enhancement. All 100 % (20/20) had tail sign; 35 % (7/20) demonstrated discontinuity from the parent nerve. None showed a target sign. There was moderate positive correlation (r = 0.68, p = 0.001) with larger neuromas arising from larger parent nerves. MRI evaluation of the nerve segment distal to the neuroma showed increased size (mean size 0.5 cm ± 0.4 cm) compared to the parent nerve (mean size 0.3 cm ± 0.2 cm).Conclusion: Since MRI features of neuromas include enhancement, intravenous contrast medium cannot be used to distinguish neuromas from peripheral nerve sheath tumours. The clinical history of trauma with the lack of a target sign are likely the most useful clues.Key Points: • MRI features of neuromas include enhancement and lack of a target sign. • Contrast material cannot be used to distinguish traumatic neuromas from PNSTs. • Traumatic neuromas can simulate peripheral nerve neoplasms on imaging. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome characterized by the development of multiple peripheral nerve sheath tumors, the majority of which are benign neurofibromas. However, malignant peripheral nerve sheath tumors (MPNSTs) occur with a 10 % lifetime risk in patients with NF1, often developing within a neurofibroma. When clinical suspicion for an MPNST arises, imaging with FDG PET and MRI is performed to characterize a peripheral tumor for potential malignancy. In this report, we describe a patient with NF-1 who had two peripheral tumors with similar features by PET, both suspicious for MPNST, but differing features by MRI, one of which was subsequently determined to be an MPNST and the second to be a schwannoma. [ABSTRACT FROM AUTHOR]

The authors report a vascular malformation mimicking a plexiform peripheral nerve sheath tumor. Three Tesla magnetic resonance neurography with high-resolution anatomic and advanced functional diffusion tensor imaging was helpful in evaluating full extent of the lesion and characterizing its internal architecture. [ABSTRACT FROM AUTHOR]

Objective: To assess the diagnostic accuracy and observer performance of 3-Tesla magnetic resonance neurography (MRN) in the evaluation of meralgia paresthetica (MP). Materials and methods: Two independent readers were blinded to the clinical diagnosis and evaluated the MRN studies of the pelvis of 11 patients with MP and 28 control participants. In each study, the lateral femoral cutaneous nerves were assessed for signal alteration and/or neuroma formation, indicating lateral femoral cutaneous neuropathy, at various levels along their course. Intra- and inter-observer reliability was evaluated. Results: Both readers exhibited substantial intraobserver agreement in detecting signal alterations and neuroma formation of the lateral femoral cutaneous nerve (LFCN). The readers demonstrated moderate interobserver agreement in detecting signal alteration of the LFCN and poor interobserver agreement in diagnosing neuroma formation. Sensitivity, specificity, positive predictive value, and negative predictive value of LFCN neuropathy diagnosis were ≥71 % and ≥94 % for both readers respectively. The diagnostic test accuracy was ≥90 % for both readers. Conclusion: 3-Tesla MRN provides reliable and accurate diagnostic evaluation of meralgia paresthetica. [ABSTRACT FROM AUTHOR]

Objective: To assess the feasibility, technical success, and effectiveness of high-resolution magnetic resonance (MR)-guided posterior femoral cutaneous nerve (PFCN) blocks. Materials and methods: A retrospective analysis of 12 posterior femoral cutaneous nerve blocks in 8 patients [6 (75 %) female, 2 (25 %) male; mean age, 47 years; range, 42-84 years] with chronic perineal pain suggesting PFCN neuropathy was performed. Procedures were performed with a clinical wide-bore 1.5-T MR imaging system. High-resolution MR imaging was utilized for visualization and targeting of the PFCN. Commercially available, MR-compatible 20-G needles were used for drug delivery. Variables assessed were technical success (defined as injectant surrounding the targeted PFCN on post-intervention MR images) effectiveness, (defined as post-interventional regional anesthesia of the target area innervation downstream from the posterior femoral cutaneous nerve block), rate of complications, and length of procedure time. Results: MR-guided PFCN injections were technically successful in 12/12 cases (100 %) with uniform perineural distribution of the injectant. All blocks were effective and resulted in post-interventional regional anesthesia of the expected areas (12/12, 100 %). No complications occurred during the procedure or during follow-up. The average total procedure time was 45 min (30-70) min. Conclusions: Our initial results demonstrate that this technique of selective MR-guided PFCN blocks is feasible and suggest high technical success and effectiveness. Larger studies are needed to confirm our initial results. [ABSTRACT FROM AUTHOR]

Sciatic nerve mass-like enlargement caused by peripheral nerve sheath tumors or neurocutaneous syndromes such as neurofibromatosis or schwannomatosis has been widely reported. Other causes of enlargement, such as from perineuroma, fibromatosis, neurolymphoma, amyloidosis, endometriosis, intraneural ganglion cyst, Charcot-Marie-Tooth disease, and chronic inflammatory demyelinating polyneuropathy are relatively rare. High-resolution magnetic resonance imaging (MRI) is an excellent non-invasive tool for the evaluation of such lesions. In this article, the authors discuss normal anatomy of the sciatic nerve and MRI findings of the above-mentioned lesions. [ABSTRACT FROM AUTHOR]

Neurofibromatosis 1 is a hereditary syndrome characterized by the development of numerous benign neurofibromas, a small subset of which progress to malignant peripheral nerve sheath tumors (MPNSTs). To better understand the genetic basis for MPNSTs, we performed genome-wide or targeted sequencing on 50 cases. Sixteen MPNSTs but none of the neurofibromas tested were found to have somatic mutations in SUZ12, implicating it as having a central role in malignant transformation. [ABSTRACT FROM AUTHOR]

Schwannomatosis is a multiple tumor syndrome in which patients develop benign tumors along peripheral nerves throughout the body. The first symptom with which schwannomatosis patients often present, prior to discovery of tumors, is pain. This pain can be debilitating and is often inadequately alleviated by pharmacological approaches. Schwannomatosis-associated pain can be localized to the area of a tumor, or widespread. Moreover, not all tumors are painful, and the occurrence of pain is often unrelated to tumor size or location. We speculate that some individual tumors, but not others, secrete factors that act on nearby nerves to augment nociception by producing neuronal sensitization or spontaneous neuronal firing. We created cell lines from human SWN tumors with varying degrees of pain. We have found that conditioned medium (CM) collected from painful SWN tumors, but not that from nonpainful SWN tumors, sensitized DRG neurons, causing increased sensitivity to depolarization by KCl, increased response to noxious TRPV1 and TRPA1 agonists and also upregulated the expression of pain-associated genes in DRG cultures. Multiple cytokines were also detected at higher levels in CM from painful tumors. Taken together our data demonstrate a differential ability of painful versus non-painful human schwannomatosis tumor cells to secrete factors that augment sensory neuron responsiveness, and thus identify a potential determinant of pain heterogeneity in schwannomatosis. [ABSTRACT FROM AUTHOR]