Nerve Sheath Tumors Research Articles

Spatially resolved transcriptomics of benign and malignant peripheral nerve sheath tumors.

Peripheral nerve sheath tumors (PNSTs) encompass entities with different cellular differentiation and degrees of malignancy. Spatial heterogeneity complicates diagnosis and grading of PNSTs in some cases. In malignant PNST (MPNST) for example, single cell sequencing data has shown dissimilar differentiation states of tumor cells. Here, we aimed at determining the spatial and biological heterogeneity of PNSTs. We performed spatial transcriptomics on formalin-fixed paraffin-embedded diseased peripheral nerve tissue. We used spatial clustering and weighted correlation network analysis to construct niche-similarity networks and gene expression modules. We determined differential expression in primary pathologies, analysed pathways to investigate the biological significance of identified meta-signatures, integrated the transcriptional data with histological features and existing single cell data, and validated expression data by immunohistochemistry. We identified distinct transcriptional signatures differentiating PNSTs. Immune cell infiltration, APOD and perineurial fibroblast marker expression highlighted the neurofibroma component of hybrid PNSTs (HPNSTs). While APOD was evenly expressed in neurofibromatous tumor tissue in both, HPNST and pure neurofibromas, perineurial fibroblast markers were evenly expressed in HPNST, but restricted to the periphery in plexiform neurofibromas. Furthermore, we provide a spatial cellular differentiation map for MPNST, locating Schwann cell precursors, neural crest-like cells and those with mesenchymal transition. This pilot study shows that applying spatial transcriptomics to PNSTs provides important insight into their biology. It helps establishing new markers and provides spatial information about cellular composition and distribution of cellular differentiation states. By integrating morphological and high-dimensional molecular data it can improve PNSTs classification in the future.

Alternative driver pathways in peripheral nerve sheath tumors - including DICER1 and/or KRAS alterations.

DICER1-associated sarcoma is an emerging entity, defined by either somatic or germline dicer 1, ribonuclease III (DICER1) mutations and sharing characteristic morphologic features irrespective of the site of origin. In addition to the DICER1 driver mutation, concurrent genomic alterations, including tumor protein 53 (TP53) inactivation and RAS pathway activation, are frequently detected. Tumors that morphologically resemble malignant peripheral nerve sheath tumor (MPNST) have rarely been reported among DICER1 sarcomas and often pose diagnostic challenges. This study was prompted by a case involving morphologic features of MPNST, which harbored co-existing DICER1 and hotspot KRAS mutations. Hence, we investigated the incidence of these alterations in PNST from our molecular database compared to the genomic and morphologic spectrum of DICER1-mutant sarcomas. In total, we identified three cases diagnosed as MPNST with co-existing DICER1, ATRX chromatin remodeler (ATRX), and KRAS G12V/A alterations occurring in brain, cerebellopontine angle, and intra-abdominal sites. Two additional cases each of MPNSTs and neurofibromas were identified with hotspot KRAS mutations. All five MPNSTs lacked canonical neurofibromin 1 (NF1)/neurofibromin 2 (NF2) alterations, displaying a classic morphologic appearance with fascicular monomorphic spindle cells and followed a diverse clinical behavior. Among the 38 DICER1-associated sarcomas in our database, eight (21%) had secondary KRAS hotspot mutations, all composed of monomorphic spindle and/or round cells, including three with an MPNST-like histology. In contrast, all 10 (26%) DICER1-mutant sarcomas with TP53 mutations showed a pleomorphic phenotype. The DNA-based methylation profile of our index case clustered within the group of sarcomas with DICER1 alterations. Our results highlight a small subset of MPNST associated with DICER1 and/or KRAS mutations. However, their relationship with conventional MPNST remains to be determined in larger studies. © 2025 The Pathological Society of Great Britain and Ireland.

Malignant peripheral nerve sheath tumour in a child with neurofibromatosis type 1

Malignant peripheral nerve sheath tumour in a child with neurofibromatosis type 1

Peripheral nerve sheath tumors in the head and neck in patients with APC gene deletion mutations: a case report and scoping review of the literature.

Adenomatous Polyposis Coli (APC) is a tumor suppressor gene expressed throughout the body. APC mutations increase the risk of malignancy and are often characterized by syndromes that encompass a spectrum of neoplastic manifestations, such as familial adenomatous polyposis (FAP). We present a rare case of palatal peripheral nerve sheath tumor in the context of APC gene mutation. A 17-year-old male with a significant history of FAP presented to our clinic for with globus sensation for 5 months with increasing discomfort. Flexible nasolaryngoscopy revealed a pedunculated lesion attached to the posterior surface of the soft. Imaging was obtained and confirmed a soft tissue homogenous mass contiguous with the soft palate. Endoscopic-assisted transoral resection was performed and pathologic features were consistent with schwannoma. We also discuss the spectrum of benign neoplastic lesions. Current literature fails to describe pharyngeal masses in the setting of APC gene mutations. The purpose of this case report is to describe a patient presentation of a symptomatic pharyngeal tumor with a known APC gene mutation and explore the differential diagnoses that must be considered.

Loss of NF1 accelerates uveal and intra-dermal melanoma tumorigenesis and oncogenic GNAQ transforms Schwann cells.

NF1 encodes the multifunctional tumour suppressor protein, neurofibromin, which is best known for its causative role in Neurofibromatosis type 1 and in regulating MAPK signaling. Neurofibromin, in a context-specific manner, is involved in various tumorigenic processes, including those in melanocytes. This study investigated whether NF1 loss can collaborate with oncogenic GNAQ to promote melanoma in the dermis or eyes, where the G alpha q pathway is almost always activated. We found that heterozygous 17q11.2 loss that includes the NF1 locus is a recurrent phenomenon in human intra-dermal and uveal melanomas described in the literature. We studied the effects of Nf1 haploinsufficiency in mice expressing oncogenic GNAQ-Q209L in melanocytes and Schwann cells of peripheral nerves using the Plp1-creERT transgene, with tamoxifen at 5-weeks of age. Nf1 haploinsufficiency accelerated melanoma formation and/or growth. RNAseq analysis found significant pathways related to cAMP signaling and myogenesis. In addition, 20% of the differentially expressed genes were homologous to genes whose expression correlates with prognosis in human uveal melanoma. Unexpectedly, we found that GNAQ-Q209L alone was sufficient to drive cutaneous nerve sheath tumors, with one GNAQ-Q209L expressing Nf1 haploinsufficient mouse also developing a plexiform variant. These tumors strongly resembled neurofibromas. We searched the cBioPortal for Cancer Genomics database and found plexiform neurofibromas with the GNAQ T96S hotspot mutation. The Plp1-creERT; GNAQ-Q209L model with tamoxifen at 5 weeks may be useful as a pre-clinical model for neurofibroma. Our studies emphasize the importance of GNAQ and NF1 in regulating neural crest derived cells existing in a dermal-like environment.

A Sequencing Overview of Malignant Peripheral Nerve Sheath Tumors: Findings and Implications for Treatment.

Malignant peripheral nerve sheath tumors (MPNSTs) are rare but aggressive malignancies with a low 5-year survival rate despite current treatments. MPNSTs frequently harbor mutations in key genes such as NF1, CDKN2A, TP53, and PRC2 components (EED or SUZ12) across different disease stages. With the rapid advancement of high-throughput sequencing technologies, the molecular characteristics driving MPNST development are becoming clearer. This review summarizes recent sequencing studies on peripheral nerve sheath tumors, including plexiform neurofibromas (PNs), atypical neurofibromatous neoplasm with uncertain biologic potential (ANNUBP), and MPNSTs, highlighting key mutation events in tumor progression from the perspectives of epigenetics, transcriptomics, genomics, proteomics, and metabolomics. We also discuss the therapeutic implications of these genomic findings, focusing on preclinical and clinical trials targeting these alterations. Finally, we conclude that overcoming tumor resistance through combined targeted therapies and personalized treatments based on the molecular characteristics of MPNSTs will be a key direction for future treatment strategies.

UBR5 in Tumor Biology: Exploring Mechanisms of Immune Regulation and Possible Therapeutic Implications in MPNST.

Malignant peripheral nerve sheath tumor (MPNST) is a rare but aggressive soft-tissue sarcoma characterized by poor response to therapy. The primary treatment remains surgical resection with negative margins. Nonetheless, in the setting of neurofibromatosis type 1 (NF1), the five-year survival rate is at 20-50%, with recurrence occurring in up to 50% of individuals. For patients with metastatic and unresectable disease, current treatment options include cytotoxic chemotherapy, which offers minimal benefit, and most patients die within five years of diagnosis. Despite advances in targeted therapy focusing on inhibiting Ras signaling and its downstream effectors, clinical trials report minimal clinical benefit, highlighting the need to explore alternative pathways in MPNST pathogenesis. Here, we discuss the role of the E3 ubiquitin ligase, UBR5, in cancer progression and immune modulation across various malignancies, including breast, lung, and ovarian cancer. We focus on mechanisms by which UBR5 contributes to tumorigenesis, focusing on its influence on tumor microenvironment and immune modulation. Additionally, we explore UBR5's roles in normal tissue function, DNA damage response, metastasis, and therapeutic resistance, illustrating its multifaceted contribution to cancer biology. We discuss evidence implicating UBR5 in immune evasion and highlight its potential as a therapeutic target to enhance the efficacy of immune checkpoint blockade (ICB) therapy in MPNST, a tumor typically characterized by an immune cold microenvironment. We outline current immune-based strategies and challenges in MPNST management, ongoing efforts to shift the immune landscape in MPNST, and ultimately, we suggest that targeting UBR5 could be a novel strategy to potentiate ICB therapy-mediated anti-tumor immune response and clinical outcomes, particularly in MPNST patients with inoperable or metastatic disease.

Identification of the Determinants of Plexiform Neurofibroma Morbidity in Pediatric and Young Adult Neurofibromatosis Type 1 Patients: A Pilot Multivariate Approach.

Plexiform neurofibromas (PNs) are histologically benign peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1) and often lead to significant morbidity due to growth. Management includes watchful waiting, surgery for partial debulking, and, since recently, systemic treatment with MEK inhibitors. However, due to the scarcity of natural history studies, our understanding of the natural progression of PNs to guide clinicians in deciding in whom and when to intervene is scarce. This study aims to describe the characteristics of NF1 patients with PNs and compare those at high risk for PN progression or experiencing significant morbidity from PN (complex PN) with NF1 patients with PNs of lower complexity. In this retrospective cohort study using clinical data from hospital records of NF1 patients with PNs seen at the Sophia Children's Hospital in the Netherlands between 2012 and 2023, we assessed determinants of clinical phenotypes and PN characteristics predictive of outcomes, including PN complexity and the timing of intervention for PN. We assessed the outcomes using logistic regression analysis and Cox regression. Ninety patients with a median age at last evaluation of 15.7 years and a median follow-up duration of 9.8 years were included. Out of 90 individuals with a benign PN, 37 developed plexiform neurofibroma morbidity during follow-up. Older age was (corrected for pathogenic NF1 variant and PN location) significantly associated with plexiform neurofibroma morbidity. Cox regression revealed that craniofacial and trunk PNs were associated with a higher intervention hazard compared to limb PNs. Our pilot multivariate approach identified older age and the location of the PN to be mostly associated with a higher chance of plexiform neurofibroma morbidity and higher intervention hazard. This may contribute to decisions regarding in whom and when to initiate treatment in NF1 patients with PNs.

Elastografia Acoustic radiation force Impulse (ARFI) para auxílio no diagnóstico de dois tumores malignos da bainha dos nervos periféricos caninos

ABSTRACT: This report described the use of acoustic radiation force impulse (ARFI) elastography in the diagnosis of two cases of canine malignant peripheral nerve sheath tumors. Both patients presented with lameness in the thoracic limb and no response to previous clinical treatment or trauma history. Physical examination revealed muscular atrophy in one of the thoracic limbs, in both dogs. B-mode axillary ultrasound showed the presence of a predominantly hypoechogenic, heterogeneous, irregular, nonencapsulated nodule with adjacent reactivity, measuring approximately 20.1 mm x 15.4 mm in the first case and 18.3 mm x 10.7 mm in the second. ARFI elastography was performed, showing areas of significant stiffness, with an average shear wave velocity of 4.12 m/s (case 1) and 4.35 m/s (case 2), suggesting malignancy. In both cases, the affected limb was amputated, and the tumors sent for histopathological analysis, which were; subsequently, diagnosed as malignant tumors of the peripheral nerve sheath. The ultrasonographic methods used were essential in the diagnosis and therapeutic conduct.

Unveiling the Cytological Enigma of Malignant Spindle Cell Neoplasm of Peripheral Nerve Sheath: A Clinicopathological Image

Unveiling the Cytological Enigma of Malignant Spindle Cell Neoplasm of Peripheral Nerve Sheath: A Clinicopathological Image

Unveiling Rare Breast Neoplasms: Diagnostic Challenges and Insights

Breast neoplasm encompasses a diversified range of different diseases characterized by unique biological and pathological features, clinical presentation, response to treatments, clinical behavior, and outcome. The histological variability has profound prognostic implications, thus playing a pivotal role in diagnosing breast neoplasm. Special histologies can occur rarely, and most information on outcomes and treatments is mainly derived from small series and case reports. Thus, reporting such unusual occurrences is of utmost importance. This is a retrospective study of four years in which 11 cases of breast neoplasm diagnosed on histopathology were assessed. The clinical details were acquired from an electronic search. The hematoxylin and eosin and immunohistochemistry slides were retrieved from the archives to review the histopathological features. The patient’s age ranged from 32 to 72 years (median: 51 years). Eleven unusual cases of breast neoplasms were diagnosed and categorized according to the latest World Health Organisation (WHO) classification. These cases include rare and salivary gland type tumors (2 cases), neuroendocrine neoplasms (1 case), hamartomas of the breast (2 cases), fibroblastic and myofibroblastic tumors of the breast (1 case), peripheral nerve sheath tumor (1 case) and hematolymphoid tumors of the breast (4 cases). The management of unusual breast cancer histotypes represents a real challenge in daily clinical practice. Our data suggest that these variants are distinct clinicopathological entities with unique hormonal receptor statuses. The occurrence of such entities is rare, and they demonstrate different clinical behaviors and responses to treatment, suggesting that a few genomic-specific events might also drive them. Therefore, it is important to indulge in future research on such rare breast neoplasms.

Triple Combination of MEK, BET, and CDK Inhibitors Significantly Reduces Human Malignant Peripheral Nerve Sheath Tumors in Mouse Models.

Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma that develops sporadically or in Neurofibromatosis type 1 patients. Its development is marked by the inactivation of specific tumor suppressor genes (TSGs): NF1, CDKN2A and SUZ12EED (Polycomb Repressor Complex 2). Each TSG loss can be targeted by particular drug inhibitors and we aimed to systematically combine these inhibitors, guided by TSG inactivation status, to test their precision medicine potential for MPNSTs. We performed a high-throughput screening in three MPNST cell lines testing 14 MEK (MEKi), 11 CDK4/6 (CDKi) and 3 bromodomain (BETi) inhibitors as single agents and 147 pair-wise co-treatments. Best combinations were validated in 9 MPNST cell lines and three were tested in one sporadic and one NF1-associated patient-derived orthotopic xenograft (PDOX) MPNST mouse models. A final combination of the three inhibitor classes was tested in the same PDOX models. A high degree of redundancy was observed in the effect of compounds of the same inhibitory class, individually or in combination, and responses matched with TSG inactivation status. The MEKi-BETi (Arry-162+I-BET151) co-treatment triggered reduction of half of the NF1-related MPNST-PDOXs, and all the sporadic tumors, reaching 65% reduction in tumor volume in the latter. Remarkably, this reduction was further increased in both models combining the three inhibitor classes, reaching 85% shrinkage on average in the sporadic MPNST. Our results strongly support precision therapies for MPNSTs guided by TSG inactivation status. MEKi-BETi-CDKi triple treatment elicits a significant reduction of human MPNST PDOX.

Discrimination of benign, atypical, and malignant peripheral nerve sheath tumours in neurofibromatosis type 1 – intraindividual comparison of positron emission computed tomography and diffusion-weighted magnetic resonance imaging

BackgroundTo intraindividually compare the diagnostic performance of positron emission computed tomography (F-18-FDG-PET/CT) and diffusion-weighted magnetic resonance imaging (DW-MRI) in a non-inferiority design for the discrimination of peripheral nerve sheath tumours as benign (BPNST), atypical (ANF), or malignant (MPNST) in patients with neurofibromatosis type 1 (NF1).ResultsIn this prospective single-centre study, thirty-four NF1 patients (18 male; 30 ± 11 years) underwent F-18-FDG-PET/CT and multi-b-value DW-MRI (11 b-values 0 – 800 s/mm²) at 3T. Sixty-six lesions corresponding to 39 BPNST, 11 ANF, and 16 MPNST were evaluated. Two radiologists independently assessed the maximum standardized uptake value (SUVmax) and mean and minimum apparent diffusion coefficient (ADCmean/min) as well as the ADC in areas of lowest signal intensity in each lesion (ADCdark). The AUCs of DW-MRI and F-18-FDG-PET/CT were compared to determine whether the ADC is non-inferior to SUVmax (non-inferiority margin equal to -10%). Follow-up of ≥ 24 months (BPNST) or histopathological evaluation (MPNST + ANF) served as diagnostic reference standard. Both SUVmax and ADC parameters demonstrated good diagnostic accuracy (AUCSUVmax 94.0%; AUCADCmean/min/dark 91.6% / 90.1% / 92.5%). However, non-inferiority could not be demonstrated for any of the three ADC parameters (lower limits of the confidence intervals of the difference between the AUC of ADCmean/min/dark and SUVmax -12.9% / -14.5% / -11.6%). Inter-rater reliability was excellent for both imaging techniques (Krippendorff’s alpha all > 0.94).ConclusionsBoth PET/CT-derived SUVmax and MRI-derived ADC allow sensitive and non-invasive differentiation of benign and (pre)-malignant peripheral nerve sheath tumours. Nevertheless, DW-MRI cannot be considered as non-inferior to F-18-FDG-PET/CT in this prospective single-centre study.

A phase II trial of larotrectinib in tumors with NTRK fusions or extremes of NTRK mRNA overexpression identified by comprehensive genomic profiling

Abstract Background TRK-inhibitors have demonstrated efficacy across several cancers with NTRK fusions. Their activity in cancers with NTRK overexpression remains unclear. Methods This trial enrolled patients with advanced cancers harboring NTRK fusions or extreme mRNA overexpression, defined as NTRK1/2/3 expression by RNA profiling >5 SDs for a given cancer type. The primary endpoint was objective response rate (ORR), with secondary endpoints including time-to-progression (TTP) ratio [TTP on study to TTP on previous systemic therapy (TTP1)], progression-free survival (PFS), and overall survival (OS). Initially planned for 2 non-comparator groups: primary central nervous system (CNS) and non-CNS tumours with NTRK fusions, the protocol was amended to permit NTRK overexpression. Results Seventeen patients were treated with larotrectinib: one glioblastoma with a SPECC1L::NTRK2 fusion (group 1), and a peripheral nerve sheath tumor with a TPM3::NTRK1 fusion and 15 patients with overexpression (group 2). The ORR was 6%. An additional 3 of 12 (25%) TTP1-evaluable patients achieved a TTP ratio ≥1.3 and 2 of 5 without an evaluable TTP1 had a PFS >6 months. Median PFS and OS were 3.5 (95% CI, 1.4-6.0) and 15.9 months (95% CI, 6.4-NR), respectively. Conclusion Unlike its efficacy in NTRK-fusion positive cancers, larotrectinib did not demonstrate a signal of efficacy among tumors with NTRK overexpression.

VGLL-fusions define a new class of intraparenchymal CNS schwannoma.

Intracerebral schwannomas are rare tumors resembling their peripheral nerve sheath counterparts but localized in the CNS. They are not classified as a separate tumor type in the 2021 WHO classification. This study aimed to compile and characterize these rare neoplasms morphologically and molecularly. We analyzed 20 tumor samples by histology, RNA Next-Generation Sequencing, DNA-methylation profiling, copy number analyses, and single nucleus RNA sequencing (snRNA-seq). Clinical data, including age, sex, and disease progression, were collected. MRI series were included when available. All cases with tissue available for histology review (n=13) were morphologically consistent with intracerebral schwannoma, but differed in their extent of GFAP staining. All (n=20) shared DNA-methylation profiles distinct from other CNS tumors, as well as from VGLL-altered peripheral nerve sheath tumors. Most cases (n=14/17) harbored fusions of either VGLL3 or VGLL1 (CHD7::VGLL3 (n=9/17) and EWSR1::VGLL1 (n=5/17)). In two cases the presence of a VGLL3 fusion was also confirmed by CNA analyses (n=2/17). MRI (n=4) showed well-defined, nodular tumors with strong, homogeneous enhancement and no diffusion restriction. Tumors were located throughout the neuroaxis [supratentorial (n=15), infratentorial (n=4), and spinal (n=1)]. snRNA-seq of a VGLL1-fused tumor indicated VGLL1 upregulation in 28.6% of tumor cells (n=1). During median follow-up of 1.8 years (range 3 months-9 years), none of the tumors recurred (n=10). We identify and define a new benign tumor class, designated VGLL-altered intraparenchymal CNS schwannomas. These tumors feature VGLL alterations and a specific DNA-methylation profile, with schwannoma-like histopathology and CNS localization, akin to previously classified intracerebral schwannomas.

A Case of Pulmonary Carcinosarcoma Predominantly Composed of Malignant Peripheral Nerve Sheath Tumor Components Observed by Sequential Computed Tomography

A Case of Pulmonary Carcinosarcoma Predominantly Composed of Malignant Peripheral Nerve Sheath Tumor Components Observed by Sequential Computed Tomography

Multiple Schwannomas Involving an Unusual Communicating Loop between the Ulnar and Median Nerves in the Axilla: Clinical Implications

Background: Schwannoma and neurofibroma constitute benign peripheral nerve sheath tumors (BPNSTs), which may present as single or multiple lesions. Multiple schwannomas are rare in the peripheral nerves of the upper extremity. Solitary small schwannoma is usually asymptomatic, while larger and multiple schwannomas may have different symptoms due to pressure effects. Median and ulnar nerve communications are often encountered in the upper limb, making these anastomoses clinically important. However, such communications with schwannomas in the axilla are rare. Case Report: The study protocol was designed per the prevailing guidelines of the Institute on the use of human cadavers for teaching and research. Written informed consent was obtained from the family of the body donor at the time of whole-body donation. The upper extremities, including the brachial plexuses of both sides, were carefully dissected as per the instructions in Cunningham’s Manual of Practical Anatomy15th edition. Discussion: Unusual anastomoses in the axilla and two encapsulated, highly vascular fusiform masses were observed. Another fairly large mass was noted on the right chest wall. Histological examination confirmed the masses to be schwannomas. Conclusion: Asymptomatic schwannomas often remain undiagnosed, and those lying in the axilla can be misdiagnosed. Awareness of such variant anatomy will enable clinicians and surgeons to plan more appropriate diagnostic and therapeutic interventions.

Distinguishing Characteristics of Benign Versus Malignant Intraosseous Schwannomas: A Comparative Study.

Benign and malignant intraosseous schwannomas are rare, and primarily documented in case reports. This study aims to elucidate the differences in clinical features and imaging manifestations between these tumors. This will help clinicians identify malignant lesions at an early stage, reliable guide treatment decisions, and accurately predict outcomes. Eighteen patients who underwent surgery and got pathological examinations in our hospital from 2012 to 2023 were retrospectively reviewed. Among them, 14 cases were found benign with 4 malignant. In the benign group, patients underwent curettage followed by bone grafting, whereas the malignant group was treated with extensive resection or amputation. Patients' demographics and radiographic features, including gender, age at diagnosis, symptom duration, tumor location, tumor margin, and the ratio of sclerotic margins were documented and compared between these tumors. All imaging was reviewed by two fellowship-trained musculoskeletal radiologists, who also quantified the sclerotic margin ratio. The intraclass correlation coefficient was used to determine inter-observer agreement. The Mann-Whitney U test was applied for continuous clinical variables, and the chi-square test or Fisher's exact test for categorical variables. In our series, the mean age of these patients was 43.1 ± 14.0 years, six patients were male and 12 were female. Pain was the predominant preoperative symptom. The average duration from symptom onset to initial physician visit was 28.5 ± 25.3 months for benign schwannomas and 8.3 ± 4.3 months for malignant schwannomas (p = 0.012). On plain radiographs, 13 (13/14) of benign schwannomas exhibited well-defined margins of bone destruction, compared to 1 (1/4) of malignant schwannomas (p = 0.019). Furthermore, benign schwannomas had a significantly higher sclerotic margin ratio (75.5%) than malignant ones (16.7%) (p = 0.001). No statistically significant difference was found between the two groups in terms of cortical bone destruction (p = 1.0). On MRI, both tumors demonstrated intermediate to slightly hypointense signal intensity on T1-weighted images and heterogeneous high signal intensities on T2-weighted images. Despite their rarity, benign and malignant intraosseous schwannomas should be considered in the differential diagnosis for patients presenting with painful and radiographically lytic bone lesions, especially in the mandible, sacrum, and vertebrae. The ratio of sclerotic margins, which we proposed for the first time, in combination with symptom duration and the clarity of tumor margins, provide valuable diagnostic clues for distinguishing the malignancy of the tumors.

Systematic Literature Review of Epaxial Paraspinal Schwannomas: Differential Diagnosis and Treatment Approaches

Background: Schwannomas, predominantly benign nerve sheath tumors, are typically found within the intradural extramedullary space of the spinal cord with potential extradural expansion. Other typical localizations are the upper limbs and neck area. Pure epaxial paraspinal schwannomas are very rare, often asymptomatic, and predominantly occur in the thoracic region, with only a handful of cases reported globally. The range of differential diagnoses for paraspinal lesions is extensive, emphasizing the importance of accurate diagnosis to ensure optimal therapy and avoid unnecessary treatments. Method: We conducted a systematic literature review searching for published recommendations for paraspinal lesion management in addition to examining the case of a 49-year-old male patient who presented with a history of persistent back pain. A thorough medical history and physical examination were followed by ultrasound and MRI, revealing a well-defined paravertebral mass spanning from T7 to T9. A secure ultrasound-guided biopsy was performed, leading to a preliminary diagnosis of paraspinal schwannoma. Subsequently, complete surgical resection was performed. Results: pathological reports confirmed the initial diagnosis of paraspinal schwannoma. Further investigation using FMI and RNA sequencing did not detect any specific genetic anomalies aside from an NF2 gene mutation. A follow-up MRI conducted six months later showed no signs of recurrence. Conclusions: The broad spectrum of differential diagnoses for paraspinal lesions necessitates a multidisciplinary approach to ensure accurate diagnosis and tailored treatment. This approach involves meticulous imaging interpretation followed by a secure biopsy procedure to obtain preliminary pathology results, ultimately leading to the implementation of the most suitable surgical treatment.

Chemotherapy for a malignant peripheral nerve sheath tumor: A case report

Chemotherapy for a malignant peripheral nerve sheath tumor: A case report