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View article: PATH-81. DNA sequencing identifies NF1 variant classes associated with malignant peripheral nerve sheath tumor (MPNST) formation in neurofibromatosis type I
PATH-81. DNA sequencing identifies NF1 variant classes associated with malignant peripheral nerve sheath tumor (MPNST) formation in neurofibromatosis type I Open
Neurofibromatosis type 1 (NF-1) is an autosomal dominant tumor predisposition syndrome caused by germline mutation of the NF1 tumor suppressor gene, yet NF-1 individuals exhibit marked clinical heterogeneity. We identified 220 people (medi…
View article: Interferon signaling underlies radiotherapy responses in malignant peripheral nerve sheath tumors (MPNSTs)
Interferon signaling underlies radiotherapy responses in malignant peripheral nerve sheath tumors (MPNSTs) Open
Summary Malignant peripheral nerve sheath tumors (MPNSTs) have poor outcomes despite multimodal treatment with surgery, radiation, and systemic therapy. Here, we combine bulk and single cell transcriptomics, genome wide CRISPRi screens, an…
View article: Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of <scp>STAR</scp> Syndrome
Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of <span>STAR</span> Syndrome Open
STAR syndrome is a very rare X‐linked dominant disorder characterized by the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, and anogenital and renal malformations. We hereby report a patient …
View article: Profound Neuropathy after Penetrating Transection of the Sciatic Nerve by Femoral Cerclage Wire: Illustrative Case and Management Strategy
Profound Neuropathy after Penetrating Transection of the Sciatic Nerve by Femoral Cerclage Wire: Illustrative Case and Management Strategy Open
Sciatic nerve injury associated with total hip arthroplasty (THA) confers chronic and progressive disability. Mechanisms of injury are heterogeneous and management nuances are often case-specific. We discuss a Sunderland Type 4 sciatic ner…
View article: Ulnar Nerve Granuloma Presenting as a Peripheral Nerve Sheath Tumor: A Case Report and Literature Review
Ulnar Nerve Granuloma Presenting as a Peripheral Nerve Sheath Tumor: A Case Report and Literature Review Open
Peripheral nerve masses have a wide differential diagnosis; however, there is no established diagnostic framework for evaluating non-neoplastic etiologies, such as inflammatory or infectious lesions. Here, we present a rare case of an ulna…
View article: RBIO-07. IMMUNOMODULATORY PATHWAYS MEDIATE RADIOTHERAPY RESPONSE IN MALIGNANT PERIPHERAL NERVE SHEATH TUMORS
RBIO-07. IMMUNOMODULATORY PATHWAYS MEDIATE RADIOTHERAPY RESPONSE IN MALIGNANT PERIPHERAL NERVE SHEATH TUMORS Open
PURPOSE Malignant peripheral nerve sheath tumors (MPNSTs) are the most common cause of death in neurofibromatosis type 1 (NF-1) and are resistant to radiation therapy (RT), yet the mechanisms underlying RT response are poorly understood. H…
View article: Neuralgic amyotrophy: An update in evaluation, diagnosis, and treatment approaches
Neuralgic amyotrophy: An update in evaluation, diagnosis, and treatment approaches Open
Neuralgic amyotrophy (NA) is an underrecognized peripheral nerve disorder distinguished by severe pain followed by weakness in the distribution of one or more nerves, most commonly in the upper extremity. While classically felt to carry a …
View article: Human Cervical Epidural Spinal Electrogram Topographically Maps Distinct Volitional Movements
Human Cervical Epidural Spinal Electrogram Topographically Maps Distinct Volitional Movements Open
Little is known about the electrophysiologic activity of the intact human spinal cord during volitional movement. We analyzed epidural spinal recordings from a total of five human subjects of both sexes during a variety of upper extremity …
View article: Functional interactions between neurofibromatosis tumor suppressors underlie Schwann cell tumor de-differentiation and treatment resistance
Functional interactions between neurofibromatosis tumor suppressors underlie Schwann cell tumor de-differentiation and treatment resistance Open
Schwann cell tumors are the most common cancers of the peripheral nervous system and can arise in patients with neurofibromatosis type-1 (NF-1) or neurofibromatosis type-2 (NF-2). Functional interactions between NF1 and NF2 and broader mec…
View article: EPCO-04. SPATIAL TRANSCRIPTOMIC ANALYSIS OF MALIGNANT PERIPHERAL NERVE SHEATH TUMORS REVEALS THERAPEUTICALLY TARGETABLE MOLECULAR SIGNATURES IN REGIONS UNDERGOING HISTOPATHOLOGIC TRANSFORMATION
EPCO-04. SPATIAL TRANSCRIPTOMIC ANALYSIS OF MALIGNANT PERIPHERAL NERVE SHEATH TUMORS REVEALS THERAPEUTICALLY TARGETABLE MOLECULAR SIGNATURES IN REGIONS UNDERGOING HISTOPATHOLOGIC TRANSFORMATION Open
Malignant peripheral nerve sheath tumors (MPNSTs) evolve from plexiform neurofibromas (pNF) in patients with neurofibromatosis type-1 (NF-1) yet the cellular and transcriptomic mechanisms underlying this transformation remain unclear. Here…
View article: PATH-02. NOVEL <i>SOX10</i> INDEL MUTATIONS DRIVE SCHWANNOMAS THROUGH IMPAIRED TRANSACTIVATION OF MYELINATION GENE PROGRAMS
PATH-02. NOVEL <i>SOX10</i> INDEL MUTATIONS DRIVE SCHWANNOMAS THROUGH IMPAIRED TRANSACTIVATION OF MYELINATION GENE PROGRAMS Open
Schwannomas are common peripheral nerve sheath tumors that can cause severe morbidity due to their stereotypic intracranial and paraspinal locations. However, the molecular drivers responsible for a substantial subset remain unknown. Throu…
View article: Characterization of Spinal Cord Injury Patients for Arm Functional Restoration through Nerve Transfer
Characterization of Spinal Cord Injury Patients for Arm Functional Restoration through Nerve Transfer Open
Introduction: Traumatic spinal cord injuries (tSCI) are common, often leaving patients irreparably debilitated. Therefore, novel strategies such as nerve transfers (NT) are needed for mitigating secondary SCI damage and improving function.…
View article: Novel <i>SOX10</i> indel mutations drive schwannomas through impaired transactivation of myelination gene programs
Novel <i>SOX10</i> indel mutations drive schwannomas through impaired transactivation of myelination gene programs Open
Background Schwannomas are common peripheral nerve sheath tumors that can cause severe morbidity given their stereotypic intracranial and paraspinal locations. Similar to many solid tumors, schwannomas and other nerve sheath tumors are pri…
View article: NIMG-15. INTEGRATED RADIOGRAPHIC AND PATHOLOGICAL ANALYSIS OF MALIGNANT PERIPHERAL NERVE SHEATH TUMORS (MPNSTS) REVEALS IMAGING CORRELATES OF MOLECULAR ALTERATIONS AND CLINICAL OUTCOME
NIMG-15. INTEGRATED RADIOGRAPHIC AND PATHOLOGICAL ANALYSIS OF MALIGNANT PERIPHERAL NERVE SHEATH TUMORS (MPNSTS) REVEALS IMAGING CORRELATES OF MOLECULAR ALTERATIONS AND CLINICAL OUTCOME Open
Malignant peripheral nerve sheath tumors (MPNSTs) are the most common cause of death in patients with neurofibromatosis type 1 (NF-1) yet non-invasive diagnosis and risk stratification of NF-1-associated peripheral nerve tumors remains cha…
View article: DDDR-06. NEUROFIBROMATOSIS TUMOR SUPPRESSORS COOPERATIVELY DRIVE TUMOR DE-DIFFERENTIATION AND MEK INHIBITOR RESISTANCE IN PERIPHERAL NERVOUS SYSTEM TUMORS
DDDR-06. NEUROFIBROMATOSIS TUMOR SUPPRESSORS COOPERATIVELY DRIVE TUMOR DE-DIFFERENTIATION AND MEK INHIBITOR RESISTANCE IN PERIPHERAL NERVOUS SYSTEM TUMORS Open
Schwann cell derived tumors comprising schwannomas, neurofibromas, and malignant peripheral nerve sheath tumors (MPNSTs) are the most common cancers of the peripheral nervous system and often arise in patients with neurofibromatosis type-1…
View article: Functional interactions between neurofibromatosis tumor suppressors drive Schwann cell tumor de-differentiation and treatment resistance
Functional interactions between neurofibromatosis tumor suppressors drive Schwann cell tumor de-differentiation and treatment resistance Open
Schwann cell tumors are the most common cancers of the peripheral nervous system and can arise sporadically or in patients with neurofibromatosis type-1 (NF-1) or type-2 (NF-2). NF-1 is caused by loss of NF1, a negative regulator of Ras si…
View article: CSIG-01. EPIGENETIC REPROGRAMMING DRIVES MALIGNANT PERIPHERAL NERVE SHEATH TUMOR (MPNST) DE-DIFFERENTIATION AND TREATMENT RESISTANCE
CSIG-01. EPIGENETIC REPROGRAMMING DRIVES MALIGNANT PERIPHERAL NERVE SHEATH TUMOR (MPNST) DE-DIFFERENTIATION AND TREATMENT RESISTANCE Open
Schwann cell derived tumors comprising schwannomas, neurofibromas, and malignant peripheral nerve sheath tumors are the most common malignancies of the peripheral nervous system. While schwannomas and neurofibromas are benign, MPNSTs are m…
View article: Appendiceal neurofibroma in a patient with neurofibromatosis 1 and recurrent abdominal infections from ventriculoperitoneal shunt: a case report
Appendiceal neurofibroma in a patient with neurofibromatosis 1 and recurrent abdominal infections from ventriculoperitoneal shunt: a case report Open
Appendiceal neurofibromas are exceedingly rare, with neither experimental nor observational data to support evidence-based diagnosis or treatment. We describe the case of a 52-year-old woman with neurofibromatosis 1 (NF1) complicated by aq…
View article: Malignant triton tumor in the setting of segmental neurofibromatosis: A rare case report and review of the literature
Malignant triton tumor in the setting of segmental neurofibromatosis: A rare case report and review of the literature Open
Introduction: Malignant triton tumors (MTTs) are a rare and highly aggressive subtype of malignant peripheral nerve sheath tumors (MPNSTs) displaying rhabdomyoblastic differentiation. Similarly, segmental neurofibromatosis (SN) is a rare s…
View article: RADT-20. HISTOPATHOLOGIC FINDINGS IN MALIGNANT PERIPHERAL NERVE SHEATH TUMOR ARE BOTH PROGNOSTIC FOR OVERALL SURVIVAL AND PREDICTIVE FOR RESPONSE TO RADIATION THERAPY
RADT-20. HISTOPATHOLOGIC FINDINGS IN MALIGNANT PERIPHERAL NERVE SHEATH TUMOR ARE BOTH PROGNOSTIC FOR OVERALL SURVIVAL AND PREDICTIVE FOR RESPONSE TO RADIATION THERAPY Open
BACKGROUND Malignant peripheral nerve sheath tumor (MPNST) is an aggressive neoplasm associated with neurofibromatosis type 1 (NF1). Despite multimodal therapy, clinical outcomes remain poor. To elucidate markers of MPNST treatment respons…
View article: Peripheral Nerve Tumors in Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis
Peripheral Nerve Tumors in Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis Open
Neurofibromatosis was first described in the nineteenth century. At the time, Friederich Daniel Von Recklinghausen detailed two cases of multiple neurofibromas. Although reports of similar cases had been published before his, Von Recklingh…
View article: Ultrasound for Neurogenic Thoracic Outlet Obstruction Remains Theoretical
Ultrasound for Neurogenic Thoracic Outlet Obstruction Remains Theoretical Open
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View article: Brachial plexus mucormycosis secondary to perineurial spread: Literature review and case report of a rare mode of infectious spread
Brachial plexus mucormycosis secondary to perineurial spread: Literature review and case report of a rare mode of infectious spread Open
Background: Mucormycosis is a rare fungal infection with nervous system involvement occurring through contiguous spread and/or angioinvasion after rhino-orbital and paranasal infection. Few cases report perineurial trigeminal mucormycosis …
View article: Histopathologic findings in malignant peripheral nerve sheath tumor predict response to radiotherapy and overall survival
Histopathologic findings in malignant peripheral nerve sheath tumor predict response to radiotherapy and overall survival Open
Background Malignant peripheral nerve sheath tumor (MPNST) is an aggressive and poorly understood malignant neoplasm. Even in the setting of multimodal therapy, the clinical course of MPNST is frequently marked by metastatic conversion and…