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1.
Niger J Clin Pract ; 24(11): 1755-1757, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34782519

RESUMO

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant genetic disorder. It is a multisystem neurocutaneous condition represented by multiple benign tumors of the nerves and skin known as neurofibromas and cafe' au lait spots. However, neurofibroma localized in the mandible is rare. We present a case of a 3-year-old, Egyptian girl with NF1. The girl presented with right mandibular swelling of undetermined duration and multiple hyperpigmented spots on the skin. This case report shows the important role of dentists, as demonstrated in the present case, in the diagnosis and management of this disease, since the diagnosis was made during dental consultation and subsequently managed by the team.


Assuntos
Neurofibroma , Neurofibromatose 1 , Manchas Café com Leite/diagnóstico , Manchas Café com Leite/etiologia , Pré-Escolar , Feminino , Humanos , Mandíbula/diagnóstico por imagem , Neurofibromatose 1/diagnóstico , Pele
2.
Rev Gastroenterol Peru ; 41(2): 117-120, 2021.
Artigo em Espanhol | MEDLINE | ID: mdl-34724694

RESUMO

The neurofibroma of the bile duct is an extremely rare and generally asymptomatic disease, however, it maybe cause obstructive jaundice and mimic a Klatskin tumor, leading to radical surgical treatment and increased patient morbidity. We present the case of a 62-year-old woman who underwent cholecystectomy 10 years ago, with jaundice and pain in the right upper quadrant, as well as auxiliary tests compatible with cholestasis. Dilation of the bile duct and the presence of a tumor in the left hepatic duct were observed by magnetic cholangioresonance. The preoperative clinical diagnosis was hilar cholangiocarcinoma, but the histopathological study revealed a neoplasm composed of spindle cells without atypia or mitotic activity, whose neurogenic lineage supported by its positivity to protein S100 in immunohistochemistry. We report the case given its infrequency in the literature and its relevance, as it is a benign entity, as a differential diagnosis of cancer.


Assuntos
Neoplasias dos Ductos Biliares , Icterícia Obstrutiva , Tumor de Klatskin , Neurofibroma , Neoplasias dos Ductos Biliares/complicações , Neoplasias dos Ductos Biliares/diagnóstico , Ductos Biliares , Feminino , Humanos , Icterícia Obstrutiva/diagnóstico , Icterícia Obstrutiva/etiologia , Tumor de Klatskin/complicações , Tumor de Klatskin/diagnóstico , Pessoa de Meia-Idade
3.
J Clin Neurosci ; 93: 106-111, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34656232

RESUMO

BACKGROUND AND AIMS: Multinodular/plexiform schwannomas and neurofibromas of major nerves are rare: before surgery, differential diagnosis among these two uncommon variants is challenging. For both forms, surgical removal is recommended in case of progressive growth and worsening of neurological symptoms. Surgery has a higher risk of neurological damage than conventional schwannomas or neurofibromas. In literature, a comparison among these rare tumors is usually limited to the pathological aspect while specific surgical and clinical management indications are lacking. Cutaneous tumors of both forms arising from terminal peripheral nerves' branches might be treated by plastic surgeons while tumors of major nerves remain under neurosurgical competence. Here we report our recent neurosurgical experience on the matter, to furnish useful suggestions for the management of these tumors. METHOD: We analyzed the clinical, radiological, and pathological data in a consecutive case series of plexiform/multinodular nerve tumors operated at our institution in the last five years. RESULTS: In our series, neurofibroma type of plexiform tumors was more frequent than schwannoma type: two sporadic plexiform-multinodular schwannomas (patients 1, and 5) and three multinodular/plexiform Neurofibromatosis familial (Neurofibromatosis 1 / NF-1) (patients 2, 3, and 4). Surgery was complex when major nerves were involved. The early outcome appeared mostly related to the pre-surgical neurological conditions and histological grading. INTERPRETATION: Although sharing some features, multinodular-plexiform schwannomas and neurofibromas have consistent differences from the clinical, surgical and pathological points of view.


Assuntos
Neurilemoma , Neurofibroma , Neurofibromatoses , Neurofibromatose 1 , Humanos , Neurilemoma/diagnóstico por imagem , Neurilemoma/cirurgia , Neurofibroma/diagnóstico por imagem , Neurofibroma/cirurgia , Nervos Periféricos
4.
Pan Afr Med J ; 39: 178, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34584604

RESUMO

Sporadic neurofibromas of the nipple-areolar complexes are exceptional even in patients with neurofibromatosis. Diffuse neurofibroma is an uncommon subtype of neurofibroma that has received little attention in the imaging literature. As are most superficial lesions, it is often evaluated clinically and if biopsy is needed, it is usually performed without imaging. However the imaging data is quite characteristic with the aim of evaluating the extension in depth and detecting an underlying cancer. We report a case of women without a history of neurofibromatosis presenting a skin thickening disfiguring her left breast, related to diffuse neurofibroma of the nipple-areolar complexes confirmed histologically. We study echo-mammography and breast magnetic resonance imaging (MRI) findings in order to highlight its radiographics features.


Assuntos
Neurofibroma/diagnóstico por imagem , Neurofibromatoses/diagnóstico por imagem , Mamilos/diagnóstico por imagem , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética , Mamografia , Neurofibroma/patologia , Neurofibromatoses/patologia , Mamilos/patologia
6.
Neurology ; 97(7 Suppl 1): S32-S41, 2021 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-34230197

RESUMO

OBJECTIVE: To assess the reliability and variability of digital calipers, 3D photography, and high-frequency ultrasound (HFUS) for measurement of cutaneous neurofibromas (cNF) in patients with neurofibromatosis type 1 (NF1). BACKGROUND: cNF affect virtually all patients with NF1 and are a major source of morbidity. Reliable techniques for measuring cNF are needed to develop therapies for these tumors. METHODS: Adults with NF1 were recruited. For each participant, 6 cNF were assessed independently by 3 different examiners at 5 different time points using digital calipers, 3D photography, and HFUS. The intraclass correlation coefficient (ICC) was used to assess intrarater and interrater reliability of linear and volumetric measurements for each technique, with ICC values >0.90 defined as excellent reliability. The coefficient of variation (CV) was used to estimate the minimal detectable difference (MDD) for each technique. RESULTS: Fifty-seven cNF across 10 participants were evaluated. The ICC for image acquisition and measurement was >0.97 within and across examiners for HFUS and 3D photography. ICC for digital calipers was 0.62-0.88. CV varied by measurement tool, linear vs volumetric measurement, and tumor size. CONCLUSIONS: HFUS and 3D photography demonstrate excellent reliability whereas digital calipers have good to excellent reliability in measuring cNF. The MDD for each technique was used to create tables of proposed thresholds for investigators to use as guides for clinical trials focused on cNF size. These criteria should be updated as the performance of these end points is evaluated.


Assuntos
Neurofibroma/diagnóstico por imagem , Neurofibroma/cirurgia , Neurofibromatose 1/cirurgia , Neoplasias Cutâneas/patologia , Adulto , Ensaios Clínicos como Assunto , Humanos , Masculino , Neurofibromatose 1/diagnóstico por imagem , Fotografação/métodos , Reprodutibilidade dos Testes , Neoplasias Cutâneas/cirurgia
7.
Cutis ; 107(5): 258-260, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34288854

RESUMO

Desmoplastic melanoma (DMM) is a rare variant of melanoma that presents major diagnostic challenges. It can mimic both benign or other malignant tumors and may be easily confused by clinicians and pathologists. We report a patient who presented with a pink-colored papule on the left lateral neck. Histopathology revealed a nodular spindle cell tumor in the dermis resembling a neurofibroma at low power. However, higher-power evaluation and the use of immunohistochemical staining confirmed the diagnosis of DMM.We present this case to highlight the ongoing challenges of diagnosing DMM both clinically and histologically and to review the salient features of this often benign-appearing tumor. Advancing age, male gender, and head and neck location are associated with an increased risk of DMM-specific death. It is important that new or changing lesions in the correct cohort and location are biopsied promptly.


Assuntos
Melanoma , Neurofibroma , Neoplasias Cutâneas , Humanos , Masculino , Melanoma/diagnóstico , Neurofibroma/diagnóstico , Neoplasias Cutâneas/diagnóstico
8.
Neurology ; 97(7 Suppl 1): S42-S49, 2021 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-34230199

RESUMO

OBJECTIVE: To summarize existing biomarker data for cutaneous neurofibroma (cNF) and to inform the incorporation of biomarkers into clinical trial design for cNFs. METHODS: The cNF working group, a subgroup of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) consortium, was formed to review and inform clinical trial design for cNFs. Between June 2018 and February 2020, the cNF working group performed a review of existing data on genetic biomarkers for cNFs in the setting of neurofibromatosis type 1. We also reviewed criteria for successful biomarker application in the clinic. The group then held a series of meetings to develop a consensus report. RESULTS: Our systematic literature review of existing data revealed a lack of validated biomarkers for cNFs. In our report, we summarize the existing signaling, genomic, transcriptomic, histopathologic, and proteomic data relevant to cNF. Finally, we make recommendations for incorporating exploratory aims for predictive biomarkers into clinical trials through biobanking samples. CONCLUSION: These recommendations are intended to provide both researchers and clinicians with best practices for clinical trial design to aid in the identification of clinically validated biomarkers for cNF.


Assuntos
Doenças do Tecido Conjuntivo/cirurgia , Neurilemoma/cirurgia , Neurofibroma/cirurgia , Neurofibromatoses/cirurgia , Neoplasias Cutâneas/cirurgia , Bancos de Espécimes Biológicos , Biomarcadores/análise , Humanos , Neurofibromatoses/metabolismo , Proteômica/métodos
9.
Neurology ; 97(7 Suppl 1): S15-S24, 2021 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-34230202

RESUMO

OBJECTIVE: To assess the perspectives of adults with neurofibromatosis 1 (NF1) regarding cutaneous neurofibroma (cNF) morbidity, treatment options, and acceptable risk-benefit ratio to facilitate the design of patient-centered clinical trials. METHODS: An online survey developed by multidisciplinary experts and patient representatives of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) cNF Working Group was distributed to adults with NF1 (n = 3,734) in the largest international database of individuals with any form of NF. Eligibility criteria included self-reported NF1 diagnosis, age ≥18 years, ≥1 cNF, and ability to read English. RESULTS: A total of 548 adults with NF1 responded to the survey. Respondents ranked appearance, number, and then location as the most bothersome features of raised cNF. Seventy-five percent of respondents considered a partial decrease of 33%-66% in the number or size of cNF as a meaningful response to experimental treatments. Most respondents (48%-58%) were willing to try available cNF treatments but were not aware of options outside of surgical removal. Regarding experimental agents, respondents favored topical, then oral medications. Most individuals (>65%) reported being "very much" or "extremely willing" to try experimental treatments, especially those with the highest cNF burden. Many respondents were not willing to tolerate side effects like nausea/vomiting (51%) and rash (46%). The greatest barriers to participation in cNF clinical trials were cost of participation and need to take time off work. CONCLUSIONS: Most adults with NF1 are willing to consider experimental therapies for treatment of cNF. These data will guide the design of patient-centered clinical trials for adults with cNF.


Assuntos
Ensaios Clínicos como Assunto , Neurofibroma/terapia , Neurofibromatoses/terapia , Neurofibromatose 1/metabolismo , Adolescente , Adulto , Doenças do Tecido Conjuntivo/terapia , Humanos , Neurilemoma/terapia , Neoplasias Cutâneas/terapia , Inquéritos e Questionários
10.
Neurology ; 97(7 Suppl 1): S25-S31, 2021 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-34230204

RESUMO

OBJECTIVE: In order to explore the use of Skindex scoring in patients with neurofibromatosis type 1 (NF1) across multiple clinical sites and inform design of additional quality of life measures, we analyzed correlations between Skindex, site, and clinical measures for 79 patients with NF1 from specialized clinics in Sydney, Australia (Royal North Shore Hospital [RNS]) and Minneapolis, Minnesota (University of Minnesota [UMN]). METHODS: The relationship between clinical factors and Skindex scores were explored by clinic site and overall. RESULTS: A total of 40 participants were recruited from RNS and 39 from UMN. Female sex, total number of cutaneous neurofibroma (cNF), and whether cNF were present on the face correlated highly with Skindex and not Riccardi scores. The UMN site had lower average scores, but these differences were almost entirely removed after adjusting for age, sex, facial cNF, and total cNF number. CONCLUSIONS: The development of cNF in adolescence and adulthood in NF1 often leads to progressive disfigurement and discomfort and is among one of the most common reasons for patients to seek medical treatment. Skindex has been used to assess skin-related quality of life in NF1 previously but is not specific to NF1. These findings highlight the need for a low threshold for referral to dermatologists for all patients with NF1 regardless of the severity of disease. The finding that facial cNF and higher total number of cNF correlates with poorer skin-related quality of life may benefit design of more specific NF1 skin-related quality of life measures.


Assuntos
Doenças do Tecido Conjuntivo/complicações , Neurofibromatose 1/complicações , Qualidade de Vida , Neoplasias Cutâneas/complicações , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibroma/complicações , Adulto Jovem
11.
Int J Mol Sci ; 22(10)2021 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-34065204

RESUMO

Schwann cells are normally quiescent, myelinating glia cells of the peripheral nervous system. Their aberrant proliferation and transformation underlie the development of benign tumors (neurofibromas) as well as deadly malignant peripheral nerve sheath tumors (MPNSTs). We discovered a new driver of MPNSTs, an oncogenic GTPase named RABL6A, that functions in part by inhibiting the RB1 tumor suppressor. RB1 is a key mediator of cellular senescence, a permanent withdrawal from the cell cycle that protects against cell immortalization and transformation. Based on the RABL6A-RB1 link in MPNSTs, we explored the hypothesis that RABL6A promotes Schwann cell proliferation and abrogates their senescence by inhibiting RB1. Using sequentially passaged normal human Schwann cells (NHSCs), we found that the induction of replicative senescence was associated with reduced expression of endogenous RABL6A. Silencing RABL6A in low passage NHSCs caused premature stress-induced senescence, which was largely rescued by co-depletion of RB1. Consistent with those findings, Rabl6-deficient MEFs displayed impaired proliferation and accelerated senescence compared to wildtype MEFs. These results demonstrate that RABL6A is required for maintenance of proper Schwann cell proliferation and imply that aberrantly high RABL6A expression may facilitate malignant transformation.


Assuntos
Senescência Celular/fisiologia , Proteínas Oncogênicas/metabolismo , Proteínas de Ligação a Retinoblastoma/metabolismo , Células de Schwann/metabolismo , Células de Schwann/fisiologia , Ubiquitina-Proteína Ligases/metabolismo , Proteínas rab de Ligação ao GTP/metabolismo , Carcinogênese/metabolismo , Ciclo Celular/fisiologia , Proliferação de Células/fisiologia , Transformação Celular Neoplásica/metabolismo , Células Cultivadas , Células HEK293 , Humanos , Neurofibroma/metabolismo , Neurofibrossarcoma/metabolismo
12.
Jt Dis Relat Surg ; 32(2): 340-346, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34145809

RESUMO

OBJECTIVES: This study aims to evaluate the diagnostic value of complete blood count (CBC) parameters in patients with peripheral nerve sheath tumors (PNSTs). PATIENTS AND METHODS: A total of 181 patients (83 males, 98 females; median age: 44 years; range, 15 to 83 years) who underwent surgical treatment for PNSTs in our tertiary oncology center between January 2010 and December 2019 were retrospectively analyzed. Eighty-two patients were diagnosed with a neurofibroma, 79 with a schwannoma, and 20 with a malignant PNST (MPNST). The patient group was evaluated as malignant (n=20) and benign (n=161). Age- and sex-matched patients admitted to our outpatient clinic of orthopedic and traumatology with non-specific symptoms other than tumor, infection, fracture, and rheumatological or hematological diseases were included as the control group (n=165). Data including age, sex, definitive histopathological diagnosis, and pre-treatment CBC values were obtained from the hospital records. Pre-treatment CBC values such as neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR) were calculated for both malignant and benign groups and control groups. Diagnostic values of NLR, PLR, and LMR between PNST groups were assessed using the receiver operating characteristic (ROC) curve analysis. RESULTS: Neurofibroma, schwannoma, and MNPST groups had significantly higher median NLR, compared to the control group (p<0.001), while the median LMR was significantly lower in these groups (p<0.05). However, the median PLR was higher only in the MPNST group, compared to the control group (p<0.001). Post-hoc analyses revealed that median NLR, PLR, and LMR ratios were similar in PNST groups, compared to the control group. In addition, the median NLR, PLR, and LMR ratios were similar between malignant and benign patient groups. The highest area under the curve (AUC) was found for NLR (AUC=0.756) and LMR (AUC=0.716) in the MPNST group. CONCLUSION: Our study results suggest that NLR, PLR, and LMR may have an added value in the early diagnosis of PNSTs and are valuable for differentiating patients from healthy individuals, although their value in differential diagnosis is still unclear.


Assuntos
Contagem de Células Sanguíneas , Neoplasias da Bainha Neural/sangue , Neoplasias da Bainha Neural/diagnóstico , Neurilemoma/sangue , Neurilemoma/diagnóstico , Neurofibroma/sangue , Neurofibroma/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Plaquetas , Estudos de Casos e Controles , Detecção Precoce de Câncer , Feminino , Humanos , Linfócitos , Masculino , Pessoa de Meia-Idade , Monócitos , Neoplasias da Bainha Neural/patologia , Neutrófilos , Nervos Periféricos , Período Pré-Operatório , Curva ROC , Estudos Retrospectivos , Adulto Jovem
13.
BMC Surg ; 21(1): 258, 2021 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-34030682

RESUMO

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a high rate of new mutation and variable expression. Diffuse neurofibroma of the epidermis invading deeper organs is rare.We report a case of diffuse subcutaneous neurofibroma in the thoracoabdominal wall which had invaded the diaphragm and caused diaphragmatic eventration. CASE PRESENTATION: We describe a patient with diffuse neurofibroma of the chest and abdomen who was admitted to the hospital due to sudden abdominal pain and a possible diaphragmatic hernia. We performed thoracotomy and found that the neurofibroma had invaded the diaphragm and caused diaphragmatic eventration. CONCLUSIONS: This occurrence has not been reported, and it shows that although neurofibromatosis is a benign disease, it still has the biological behavior of a malignant tumor and may cause a serious impact on and damage to other organs.


Assuntos
Parede Abdominal , Eventração Diafragmática , Hérnias Diafragmáticas Congênitas , Neurofibroma , Diafragma/diagnóstico por imagem , Diafragma/cirurgia , Humanos , Neurofibroma/diagnóstico por imagem , Neurofibroma/cirurgia
14.
Stomatologiia (Mosk) ; 100(2): 86-89, 2021.
Artigo em Russo | MEDLINE | ID: mdl-33874667

RESUMO

A clinical case of successful treatment of isolated tongue neurofibroma presented patient K., 64 years old, referred to the clinic complaining of a feeling of «discomfort¼ on swallowing. With a comprehensive examination, a diagnosis of an isolated tongue neurofibroma was established. Surgical treatment was performed. The diagnosis was confirmed morphologically. The presented clinical case of isolated tongue neurofibroma in an elderly patient is casuistic in nature, of scientific and practical interest due to the rarity and unusualness of the disease.


Assuntos
Neurofibroma , Neoplasias da Língua , Idoso , Diagnóstico Diferencial , Emoções , Humanos , Pessoa de Meia-Idade , Neurofibroma/diagnóstico , Neurofibroma/cirurgia , Língua , Neoplasias da Língua/diagnóstico , Neoplasias da Língua/cirurgia
15.
BMJ Case Rep ; 14(4)2021 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-33827870

RESUMO

Neurofibromas are defined as benign tumours arising from peripheral nerve sheaths. Few intraoral palatal cases have been reported. Neurofibromas can occur as part of neurofibromatosis, type 1 (NF1) or type 2 (NF2). A 41-year-old patient presented with a slowly enlarging soft tissue mass on the hard palate. An incisional biopsy was performed, which confirmed the diagnosis of a neurofibroma associated with NF1. It should be considered that there is a chance of malignant transformation. Here, we discuss the clinical features, types, diagnosis, histopathology and treatment options.


Assuntos
Neurofibroma , Neurofibromatose 1 , Adulto , Humanos , Neurofibroma/diagnóstico por imagem , Palato Duro
16.
BMC Surg ; 21(1): 128, 2021 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-33691671

RESUMO

BACKGROUND: Neurofibromatosis comprises neurofibromatosis type 1 (NF1) and type 2 (NF2). Major tumor type of NF1 are neurofibroma recognized as benign peripheral nerve tumor, malignant peripheral nerve sheath tumor (MPNST), and glioma. CASE PRESENTATION: We report a woman with a special condition, whose tumors in body surfaces were benign neurofibroma and tumors in posterior mediastinum are MPNST. The chest-enhanced CT suggested a round soft tissue density in posteriormediastium. The diagnosis was established by pathology and immunohistochemistry. A single-stage thoracoscopic mediastinal mass resection was performed. The whole operation went smoothly and the CT scan of lungs did not show relapse of tumor three months later. CONCLUSIONS: The appearance of neurofibroma should draw particular attention to the possibility of developing MPNST. More careful imaging examinations should be carried out, and pathological examination could diagnose it.


Assuntos
Neoplasias da Bainha Neural/cirurgia , Neurofibroma/cirurgia , Neurofibrossarcoma/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Neoplasias da Bainha Neural/diagnóstico por imagem , Neurofibroma/diagnóstico por imagem , Neurofibromatose 1/complicações , Neurofibromatose 2 , Neurofibrossarcoma/patologia , Tomografia Computadorizada por Raios X , Resultado do Tratamento
17.
Biotechnol J ; 16(6): e2000250, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33689228

RESUMO

Neurofibromas are the most characteristic feature of neurofibromatosis type 1 (NF1), a multisystemic disorder caused by aberrations in the neurofibromin gene (NF1). Despite significant progress over the last several years in understanding this disease, a suitable in vitro model to better mimic neurofibroma formation and growth has yet to be described. There is therefore a need to establish an in vitro, three dimensional model that allows the incorporation of multicellular lineages and the modulation of the cellular microenvironment-known to be important for cellular crosstalk and distribution of soluble factors-to study neurofibroma biology and morphogenesis. A self-assembly approach was used to generate tissue-engineered skins (TES) in which patient-derived spheroids made of NF1-associated Schwann cells and fibroblasts were seeded. We describe the first in vitro three dimensional neurofibroma model-directly derived from NF1 patients presenting with histopathological features-having an ECM protein expression profile quite similar to that of a native tumor. We observed efficient incorporation, proliferation, and migration of spheroids within NF1-TES over time. This biotechnological approach could provide a unique tool for precision medicine targeting NF1 and for assessing the tumorigenic properties of each NF1 gene mutation linked to tumor formation.


Assuntos
Neurofibroma , Neurofibromatose 1 , Humanos , Mutação , Neurofibroma/genética , Neurofibromatose 1/genética , Neurofibromina 1/genética , Células de Schwann , Microambiente Tumoral/genética
18.
Acta Neurochir (Wien) ; 163(7): 2063-2074, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33694013

RESUMO

OBJECTIVE: Data concerning the surgical treatment of lumbosacral plexus tumors (LSPTs) is scarce. This study aims to present our experience with a series of 19 patients surgically treated for symptomatic LSPTs at our institution. METHODS: This is a retrospective study of 19 patients surgically treated for symptomatic LSPTs from 2011 to 2019. Clinical data were retrieved from medical records and consisted of age, gender, clinical presentation, location of the lesion, surgical approach, final histopathologic diagnosis, follow-up time, outcomes, and complications. RESULTS: Nineteen surgical procedures were conducted. Thirteen patients were female and six, male. The median age of patients was 45 years (range 20 to 63 years). No patients harbored genetic syndromes. Surgical treatment appears to be correlated to the reduction of pain in patients with peripheral nerve sheath tumors (PNSTs), as assessed by visual analog scale (VAS). Sixteen patients did not present with new-onset deficits during follow-up (84.2%), two of whom recovered from their preoperative deficit. Four patients presented with postoperative weakness. The histopathological diagnoses were 11 schwannomas, four neurofibromas, three metastases, and one lymphoma. CONCLUSIONS: LSPTs are rare. When surgical treatment is indicated, it usually requires multidisciplinary management. Surgery appears to be effective concerning the reduction of pain in PNSTs and may also recover neurological deficits. Iatrogenic neurological deficits are an evident risk, such that intraoperative multimodal monitoring should always be performed if available. In lesions involving the sacral plexus, we found it to be indispensable.


Assuntos
Plexo Lombossacral , Adulto , Feminino , Humanos , Plexo Lombossacral/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias da Bainha Neural , Neurilemoma , Neurofibroma/cirurgia , Estudos Retrospectivos , Adulto Jovem
20.
BMJ Case Rep ; 14(2)2021 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-33608336

RESUMO

Urogenital involvement in neurofibromatosis is extremely rare and thus is less documented. Herein, we discuss a 11-year-old boy who was referred with a diagnosis of neurofibroma bladder on bilateral flank ureterostomy with mild renal failure. A diagnosis of neurofibroma of the bladder with ureterohydronephrosis had been made and partial excision had been attempted, followed by bilateral ureterostomy because of increasing ureterohydronephrosis. He was 13 years and wanted to be dry as he wanted to go to school. With the plan of attaining dryness with stable upper tracts, he was posted for surgery. Near-total excision followed by a sigmoid conduit was performed. The biopsy was reported as plexiform neurofibroma and is on regular follow-up, dry on a stoma bag with stable renal parameters.


Assuntos
Neurofibroma/patologia , Neurofibroma/cirurgia , Ureterostomia/métodos , Neoplasias da Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/cirurgia , Adolescente , Biópsia , Humanos , Masculino , Bexiga Urinária/patologia , Bexiga Urinária/cirurgia
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