Neurofibromatosis type 1(NF1)is one of the most common genetic disorders that predisposes patients to benign and malignant tumors of the peripheral nervous system.Plexiform and cutaneous neurofibromas are NF1-associat...Neurofibromatosis type 1(NF1)is one of the most common genetic disorders that predisposes patients to benign and malignant tumors of the peripheral nervous system.Plexiform and cutaneous neurofibromas are NF1-associated benign tumors.Despite their benign nature,they can cause tremendous morbidity in patients with NF1.Therapeutic drug options are limited to the MEK inhibitor,selumetinib,which is the only approved drug for pediatric patients with plexiform neurofibromas.Antifibrotic strategies have substantial therapeutic potential for NF1-associated neurofibromas.This review discusses the fibrotic features of plexiform and cutaneous neurofi-bromas focusing on the pathological composition of the extracellular matrix.It also highlights the core pathways implicated in the biochemical and biophysical regulation of the extracellular matrix remodeling in tumor imitation and progression.Finally,this review provides a brief outlook on how exploring novel vulnerabilities residing in the aberrant extracellular matrix and their underlying pathways can benefit the treatment of NF1-associated neurofibromas.展开更多
Plexiform neurofibroma(PN)of the digestive tract is very rare and usually part of the generalized syndrome of neurofibromatosis type 1(von Recklinghausen disease).Solitary PN of the stomach is extremely rare and has n...Plexiform neurofibroma(PN)of the digestive tract is very rare and usually part of the generalized syndrome of neurofibromatosis type 1(von Recklinghausen disease).Solitary PN of the stomach is extremely rare and has not been reported in the literatures.Here we present a case of solitary PN of the stomach,which was not associated with von Recklinghausen disease.A38-year-old male presented abdominal pain and distention for 7 d.The patient underwent endoscopy of the upper gastrointestinal tract,which revealed a 3.5 cm protruding and cauliflower-shaped mass with a shallow1 cm central ulcer in the greater curvature of the stomach.The lesion was removed by laparoscopic surgery.Histological examination demonstrated characteristic histological findings of spindle-shaped cells.Immunohistochemical analysis showed that the tumor cells were positive for S-100 protein,but negative for CD34,KI-67,CD117,and actin.Based on histological findings,gastrointestinal stromal tumor could be excluded,and thus the case was confirmed as PN.We described the clinical features,physical examination,endoscopic findings,and histopathological examination of this case.展开更多
BACKGROUND Plexiform neurofibromas are extremely rarely found in the region of cauda equina and can pose a significant challenge in the diagnostic and management sense.To our knowledge,only 7 cases of cauda equina neu...BACKGROUND Plexiform neurofibromas are extremely rarely found in the region of cauda equina and can pose a significant challenge in the diagnostic and management sense.To our knowledge,only 7 cases of cauda equina neurofibromatosis(CENF)have been reported up-to-date.CASE SUMMARY We describe a case of a 55-year-old man with a 10 years history of progressive lower extremities weakness and bladder dysfunction.Before presenting,patient was misdiagnosed with idiopathic polyneuropathy.Lumbar spine MRI revealed a tortuous tumorous masses in the cauda equina region,extending through the Th12-L4 vertebrae.The patient underwent Th12-L3 Laminectomy with duraplasty.During the operation,the most enlarged electroneurographically silent nerve root was resected,anticipating inadequate decompression if nerve root was spared.The patient’s neurological condition improved post-operatively,but urinary retention became the major complaint.We provide a follow-up period of 10 years.During this time,the patient’s condition progressively worsened despite extensive decompression.The consequent MRI scans showed progressive enlargement of cauda equina roots and increasing lumbar stenosis,predominantly affecting L3-L4 segment.During the follow-up 8 years after the operation,the patient complained of worsening lower extremities sensorimotor function and neurogenic claudication.Subsequent MRI revealed lumbar spine stenosis at the level of L3-L4,requiring further decompression.The patient underwent a second surgery involving L4-L5 Laminectomy with duraplasty and L2-L5 transpedicular fixation.The post-operative period was uneventful.Latest follow-up 18 mo after the second surgery revealed substantial improvement in patient’s well-being.CONCLUSION CENF should be kept in mind during the differential diagnostic work-up for polyneuropathies.Management with an extensive decompression,duraplasty and primary spinal fixation represents a rational approach to achieve a sustained symptomatic improvement and superior overall outcome.展开更多
BACKGROUND Peripheral nerve sheath tumors(PNSTs),a rare group of neoplasms in the orbit,comprise only 4%of all orbital tumors.At present,there are very few studies detailing the features of these tumors identified usi...BACKGROUND Peripheral nerve sheath tumors(PNSTs),a rare group of neoplasms in the orbit,comprise only 4%of all orbital tumors.At present,there are very few studies detailing the features of these tumors identified using imaging technology.AIM To compare the differences in location,morphology,magnetic resonance imaging(MRI)signal intensity/computed tomography(CT)value,and enhancement degree of tumors of different pathological PNSTs types.METHODS Clinical,pathological,CT,and MRI data were analyzed retrospectively in 34 patients with periorbital sheath tumors diagnosed using histopathology from January 2013 to August 2021.RESULTS Among 34 cases of orbital peripheral nerve sheath tumors,21 were schwannomas,12 were neurofibromas,and 1 was a plexiform neurofibroma.Common clinical symptoms presented by patients with these types of tumors include eyelid swelling,exophthalmos,and limited eye movement.Schwannomas mostly occur in the intramuscular space with small tumor volume and rare bone involvement.Neurofibromas develop in the extrapyramidal space with larger tumor volume and more bone involvement.Radiologically,schwannomas and neurofibromas are characterized by regular morphology and uneven density and signal.One case of plexiform neurofibroma showed tortuous and diffuse growth along the nerve,with a worm-like appearance on imaging.CONCLUSION Different pathological types of orbital peripheral nerve sheath tumors have unique imaging characteristics.Comprehensive consideration of the patient's clinical and imaging manifestations is of great value in the diagnosis of orbital peripheral nerve sheath tumors.展开更多
文摘Neurofibromatosis type 1(NF1)is one of the most common genetic disorders that predisposes patients to benign and malignant tumors of the peripheral nervous system.Plexiform and cutaneous neurofibromas are NF1-associated benign tumors.Despite their benign nature,they can cause tremendous morbidity in patients with NF1.Therapeutic drug options are limited to the MEK inhibitor,selumetinib,which is the only approved drug for pediatric patients with plexiform neurofibromas.Antifibrotic strategies have substantial therapeutic potential for NF1-associated neurofibromas.This review discusses the fibrotic features of plexiform and cutaneous neurofi-bromas focusing on the pathological composition of the extracellular matrix.It also highlights the core pathways implicated in the biochemical and biophysical regulation of the extracellular matrix remodeling in tumor imitation and progression.Finally,this review provides a brief outlook on how exploring novel vulnerabilities residing in the aberrant extracellular matrix and their underlying pathways can benefit the treatment of NF1-associated neurofibromas.
文摘Plexiform neurofibroma(PN)of the digestive tract is very rare and usually part of the generalized syndrome of neurofibromatosis type 1(von Recklinghausen disease).Solitary PN of the stomach is extremely rare and has not been reported in the literatures.Here we present a case of solitary PN of the stomach,which was not associated with von Recklinghausen disease.A38-year-old male presented abdominal pain and distention for 7 d.The patient underwent endoscopy of the upper gastrointestinal tract,which revealed a 3.5 cm protruding and cauliflower-shaped mass with a shallow1 cm central ulcer in the greater curvature of the stomach.The lesion was removed by laparoscopic surgery.Histological examination demonstrated characteristic histological findings of spindle-shaped cells.Immunohistochemical analysis showed that the tumor cells were positive for S-100 protein,but negative for CD34,KI-67,CD117,and actin.Based on histological findings,gastrointestinal stromal tumor could be excluded,and thus the case was confirmed as PN.We described the clinical features,physical examination,endoscopic findings,and histopathological examination of this case.
文摘BACKGROUND Plexiform neurofibromas are extremely rarely found in the region of cauda equina and can pose a significant challenge in the diagnostic and management sense.To our knowledge,only 7 cases of cauda equina neurofibromatosis(CENF)have been reported up-to-date.CASE SUMMARY We describe a case of a 55-year-old man with a 10 years history of progressive lower extremities weakness and bladder dysfunction.Before presenting,patient was misdiagnosed with idiopathic polyneuropathy.Lumbar spine MRI revealed a tortuous tumorous masses in the cauda equina region,extending through the Th12-L4 vertebrae.The patient underwent Th12-L3 Laminectomy with duraplasty.During the operation,the most enlarged electroneurographically silent nerve root was resected,anticipating inadequate decompression if nerve root was spared.The patient’s neurological condition improved post-operatively,but urinary retention became the major complaint.We provide a follow-up period of 10 years.During this time,the patient’s condition progressively worsened despite extensive decompression.The consequent MRI scans showed progressive enlargement of cauda equina roots and increasing lumbar stenosis,predominantly affecting L3-L4 segment.During the follow-up 8 years after the operation,the patient complained of worsening lower extremities sensorimotor function and neurogenic claudication.Subsequent MRI revealed lumbar spine stenosis at the level of L3-L4,requiring further decompression.The patient underwent a second surgery involving L4-L5 Laminectomy with duraplasty and L2-L5 transpedicular fixation.The post-operative period was uneventful.Latest follow-up 18 mo after the second surgery revealed substantial improvement in patient’s well-being.CONCLUSION CENF should be kept in mind during the differential diagnostic work-up for polyneuropathies.Management with an extensive decompression,duraplasty and primary spinal fixation represents a rational approach to achieve a sustained symptomatic improvement and superior overall outcome.
基金Supported by the Incubation Fund Project of the Xi’an People’s Hospital(The Fourth Xi'an Hospital),No.FZ-75.
文摘BACKGROUND Peripheral nerve sheath tumors(PNSTs),a rare group of neoplasms in the orbit,comprise only 4%of all orbital tumors.At present,there are very few studies detailing the features of these tumors identified using imaging technology.AIM To compare the differences in location,morphology,magnetic resonance imaging(MRI)signal intensity/computed tomography(CT)value,and enhancement degree of tumors of different pathological PNSTs types.METHODS Clinical,pathological,CT,and MRI data were analyzed retrospectively in 34 patients with periorbital sheath tumors diagnosed using histopathology from January 2013 to August 2021.RESULTS Among 34 cases of orbital peripheral nerve sheath tumors,21 were schwannomas,12 were neurofibromas,and 1 was a plexiform neurofibroma.Common clinical symptoms presented by patients with these types of tumors include eyelid swelling,exophthalmos,and limited eye movement.Schwannomas mostly occur in the intramuscular space with small tumor volume and rare bone involvement.Neurofibromas develop in the extrapyramidal space with larger tumor volume and more bone involvement.Radiologically,schwannomas and neurofibromas are characterized by regular morphology and uneven density and signal.One case of plexiform neurofibroma showed tortuous and diffuse growth along the nerve,with a worm-like appearance on imaging.CONCLUSION Different pathological types of orbital peripheral nerve sheath tumors have unique imaging characteristics.Comprehensive consideration of the patient's clinical and imaging manifestations is of great value in the diagnosis of orbital peripheral nerve sheath tumors.
