المؤلفون: Kim, Young Chul, Woo, Soo Hyun, Oh, Tae Suk

المصدر: Journal of Cranio-Maxillofacial Surgery; Mar2023, Vol. 51 Issue 3, p157-165, 9p

مصطلحات موضوعية: PAROTIDECTOMY, FACIAL nerve, STANDARD deviations, BENIGN tumors, FACELIFT, TUMORS, NEUROFIBROMATOSIS 1, RETROSPECTIVE studies, FACIAL paralysis

مستخلص: This study aimed to evaluate functional and aesthetic outcomes in patients undergoing deep-plane facelifts for the management of extensive hemifacial tumors. The retrospective study included patients who had been diagnosed with benign tumors with extensive hemifacial involvement. All patients underwent tumor debulking via a dual-plane facelift approach, assisted by an ICG camera to visualize the facial nerve structures. To manage the laxity of the skin envelope, the deep-plane face-lift was performed by suspending the superficial musculoaponeurotic layer, followed by suture fixation to the parotid-masseteric fascia. Clinical outcomes, including complications, House–Brackmann grading for facial paralysis, and tumor recurrence rate were investigated. Quantitative facial nerve examination was carried out using FACE-gram software (Massachusetts Eye and Ear Infirmary, Boston, USA) to measure mouth corner movement at rest and when smiling. Using preoperative and 1-year postoperative 3D photographs, facial symmetry was assessed using comparisons of facial volume and the root-mean-square deviation (RMSD) value to represent the height difference between each hemiface. In total, 25 patients who met the inclusion criteria were recruited to the study. Regarding the types of tumor, 13 of the 25 patients were diagnosed with vascular lesions and the other 12 with neurofibromatosis plexiform. Following surgery, two patients showed temporary palsy of the buccal branches — grade II on the House–Brackmann scale — but neural functioning was eventually restored during the follow-up period. During resting, the mouth corner excursion ratio was significantly improved, from 1.11 ± 0.19 preoperatively to 1.02 ± 0.08 postoperatively (p = 0.022). The facial volume ratio was significantly improved in the lower face, from 1.57 ± 0.66 preoperatively to 1.19 ± 0.18 postoperatively (p = 0.008). The RMSD was significantly decreased, from 4.56 ± 2.35 mm preoperatively to 2.08 ± 0.99 mm postoperatively (p < 0.001), representing a decrease in facial asymmetry. Within the limitations of the study, it seems that the ICG camera-assisted deep-plane facelift technique allows preservation of facial nerve functioning and enhances facial symmetry when managing extensive hemifacial tumors. [ABSTRACT FROM AUTHOR]

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المؤلفون: Sekar, Arunkumar¹ (AUTHOR), Rudrappa, Satish¹ (AUTHOR) drsatishr@gmail.com, Gopal, Swaroop¹ (AUTHOR), Ghosal, Nandita² (AUTHOR), Rai, Abhishek¹ (AUTHOR)

المصدر: World Neurosurgery. May2019, Vol. 125, p253-256. 4p.

مصطلحات موضوعية: *PINEAL gland, *NEUROFIBROMATOSIS 1, *SOMATIC mutation, *SPINAL cord, *TUMORS

مستخلص: Rosette-forming glioneuronal tumour [RGNT] is a relatively rare entity first identified as a separate entity in 2002. We are reporting the second case of RGNT in the opticochiasmatic region. We report a case report and literature review of RGNT with syndromic association. Although initial reports were predominantly in the fourth ventricle, many recent reports have identified the possibility of its occurrence outside fourth ventricle in pineal gland, spinal cord, septum pellucidum, lateral ventricle, and suprasellar region. To date, only 1 case of RGNT involving the opticochiasmatic region has been reported in a patient with neurofibromatosis type 1. Genetic analysis of this rare tumor identified 3 hotspots involving somatic mutations of FGFR-1 and PIK3CA and a germline mutation involving PTPN11, which can be targets for therapeutic intervention in cases where complete resection is not possible. To the best of our knowledge, we report the first case of RGNT involving the opticochiasmatic region without any syndromic association. Other cases of RGNT with syndromic associations provide us with insight into possible therapeutic interventions. [ABSTRACT FROM AUTHOR]

المؤلفون: Naldan, Muhammet Emin¹, Polat, Gokhan², Guvendi, Bulent³, Ogul, Hayri², Kantarci, Mecit²

المصدر: Spine Journal. Dec2015, Vol. 15 Issue 12, pe41-e42. 1p.

مصطلحات موضوعية: *NEUROFIBROMATOSIS 1, *PELVIC bones, *ANESTHESIA, *ORTHOPEDICS, *MEDICAL research, *TUMORS

المؤلفون: Yousefi, Omid¹ (AUTHOR), Saghebdoust, Sajjad² (AUTHOR), Abdollahifard, Saeed¹ (AUTHOR), Motlagh, Mohammadhadi Amirshahpari¹ (AUTHOR), Farrokhi, Majid Reza^1,3 (AUTHOR), Motiei-Langroudi, Rouzbeh⁴ (AUTHOR), Mousavi, Seyed Reza^1,3 (AUTHOR) moosavi_r@sums.ac.ir

المصدر: World Neurosurgery. Dec2023, Vol. 180, p163-163. 1p.

مصطلحات موضوعية: *SPINAL nerve roots, *BENIGN tumors, *SURGICAL excision, *DISEASE relapse, *DATABASES, *NEUROFIBROMATOSIS 1

مستخلص: Spinal ganglioneuromas (GNs) are rare benign tumors that often manifest as symptoms related to the compression of neural elements. The preferred treatment for affected patients is surgical resection, which typically improves symptoms and accompanies a low likelihood of tumor recurrence. We conducted a systematic review of reports of GNs involving the spinal cord and nerve roots, examining their clinical presentation, surgical management, and outcomes. Using the keywords "ganglioneuroma" and "spinal," we conducted a systematic database review of MEDLINE (PubMed), Scopus, and Embase, querying studies reporting cases of spinal GNs. Patients' demographics, location of the tumors, clinical features, and surgical outcomes were extracted from eligible articles. A total of 93 spinal GN cases in 52 case reports/series met our criteria. Data analysis revealed a general male predominance, though thoracic spinal GNs were seen more in females. The mean age of patients with cervical, thoracic, thoracolumbar, and lumbar spinal GNs were 41.28, 27.65, 15.61, and 38.73 years, respectively. Multiple-level GNs were mostly seen in male patients or individuals with neurofibromatosis type 1. In all but 1 case, recurrence and reoperation were not reported in the short-term (months) and long-term (2–10 years) follow-up. We found unique epidemiologic characteristics for patients with GNs of different spinal regions. The treatment of choice is achieving gross total resection, but given the eloquency of the lesions, achieving decompression via subtotal resection can also be associated with improved outcomes. To date, no global postoperative surveillance protocol exists, considering the low recurrence rate and relevant cost-benefit ratios. [ABSTRACT FROM AUTHOR]

المؤلفون: Robert-Boire, Viviane¹, Rosca, Lorena¹, Samson, Yvan², Ospina, Luis H³, Perreault, Sébastien¹ s.perreault@umontreal.ca

المصدر: Pediatric Neurology. Oct2017, Vol. 75, p55-60. 6p.

مصطلحات موضوعية: *NEUROFIBROMATOSIS, *NEUROFIBROMA, *TUMORS, *NYSTAGMUS, *HYDROCEPHALUS, *RETROSPECTIVE studies, *DISEASE progression, *OPTIC nerve diseases, *DIAGNOSIS, *NEUROFIBROMATOSIS 1, *THERAPEUTICS

مستخلص: Background: Optic pathway gliomas (OPGs) occur sporadically or in patients with neurofibromatosis type 1 (NF1). The purpose of this study was to evaluate the clinical presentation at diagnosis and at progression of patients with OPGs.Methods: We conducted a chart review of patients with OPGs diagnosed in a single center over a period of 15 years. Demographic data including age, sex, NF1 status, clinical presentation, and outcome were collected.Results: Of the 40 patients who were identified, 23 had sporadic tumors (57.5%) and 17 had NF1-related tumors (42.5%). Among the children with NF1, there was a significant overrepresentation of girls (82.3%) (P = 0.02), while among the children without NF1, there were slightly more boys (56.5%) than girls (43.5%). The presence of nystagmus was strongly associated with sporadic optic pathway gliomas. Poor visual outcome was related to tumor affecting both optic pathways, hydrocephalus at diagnosis, and optic nerve atrophy. Of the 40 patients, five died of OPG complications (12.5%) and all had sporadic tumors.Conclusions: Our cohort is one of the largest with OPGs and a detailed description of the clinical presentation both at diagnosis and at progression. We observed a significant difference between sporadic and NF1 optic pathway gliomas in terms of demographics, clinical presentation, and outcome. [ABSTRACT FROM AUTHOR]

المؤلفون: Liu, Yuanyuan¹ (AUTHOR), Huang, Jin¹ (AUTHOR), Sun, Jingjing² (AUTHOR), Su, Mingqin¹ (AUTHOR), Yang, Dong¹ (AUTHOR), Zhao, Min¹ (AUTHOR), Huang, Qing^1,3 (AUTHOR) 6743919@qq.com

المصدر: Oral Oncology. Jun2022, Vol. 129, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *SOFT tissue tumors, *LITERATURE reviews, *MYXOMA, *CANCER relapse, *CELLULAR signal transduction, *TUMORS, *NEUROFIBROMATOSIS 1

مستخلص: Glioma-associated oncogene homologue 1 (GLI1) is an important transcription factor downstream of Hedgehog (HH) signaling pathway, and can be used as a marker of HH signaling pathway activation. GLI1 gene translocations have been reported in several tumor types, including those associated with t(7;12) translocated dermatocytoma, plexus fibromyxoma, and gastroblastoma and other types of malignant soft tissue tumors, whereas GLI1 amplification is actually very rare in tumors. In this case report, we describe for the first time a tumor in the right mandibular gingiva, which is consistent with GLI1 amplified/fused mesenchymal tumor. The tumor cells are elliptic, polygonal and spindle tumor cells growing into nests and segments, lobulated and occasionally mitotic. The identification of these pathological features can help guide pathologists to make appropriate diagnosis and, if necessary, follow-up molecular tests. Our case has been treated with surgical resection. To date, no recurrence or metastasis has occurred and the prognosis is good. [ABSTRACT FROM AUTHOR]

المؤلفون: Ishida, Hirotaka¹ (AUTHOR), Lam, Alfred King-yin¹ (AUTHOR) a.lam@griffith.edu.au

المصدر: Critical Reviews in Oncology/Hematology. Apr2022, Vol. 172, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *NEUROENDOCRINE tumors, *VON Hippel-Lindau disease, *TUMORS, *PANCREATIC tumors, *TUBEROUS sclerosis, *SYNDROMES, *NEUROFIBROMATOSIS 1

مستخلص: Pancreatic neuroendocrine neoplasms (PanNENs) are the neuroendocrine neoplasms with greatest rate of increase in incidence. Approximately 10% of PanNENs arise as inherited tumour syndromes which include multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 4, von Hippel–Lindau syndrome, neurofibromatosis type1, tuberous sclerosis complex 1/2, Cowden syndrome, and Glucagon cell hyperplasia and neoplasia as well as familial insulinomatosis. In sporadic PanNENs, driver mutations in MEN1 , DAXX/ATRX and mTOR pathway genes are associated with development and progression in pancreatic neuroendocrine tumours. The other changes are in VEGF pathway, Notch pathway, germline mutations in MUTYH, CHEK2, BRCA2, PHLDA3 as well as other genetic alterations. On the other hand, pancreatic neuroendocrine carcinomas share similar genetic alterations with ductal adenocarcinomas, e.g., TP53 , RB1 or KRAS. In addition, microRNA and changes in immune microenvironment were noted in PanNENs. Updates on these genetic knowledges contribute to the development of management strategies for patients with PanNENs. [Display omitted] • Sequencing advances have demonstrated complex molecular landscape of PanNENs. • Genomic changes occur in PanNENs in inherited tumour syndromes and sporadic cases. • Driver mutations in MEN1 , DAXX/ATRX and mTOR pathway are common in PanNETs. • PanNEC shares similar genetic alterations with ductal adenocarcinomas. • The understanding of molecular pathology can develop novel treatment strategies. [ABSTRACT FROM AUTHOR]

المؤلفون: Curless, Richard G.¹, Bowen, Brian C.², Pattany, Padrip M.², Gonik, Renato¹, Kramer, Deborah L.³

المصدر: Pediatric Neurology. May2002, Vol. 26 Issue 5, p374-378. 5p.

مصطلحات موضوعية: *BRAIN stem, *MAGNETIC resonance microscopy, *TUMORS, *CANCER cells, *COMPARATIVE studies, *RESEARCH methodology, *MEDICAL cooperation, *NUCLEAR magnetic resonance spectroscopy, *RESEARCH, *EVALUATION research, *NEUROFIBROMATOSIS 1

مستخلص: Five children with brainstem tumors and two control patients had magnetic resonance spectroscopy studies of the brainstem. Two of the malignant tumor patients had magnetic resonance spectroscopy studies before and after radiation therapy. The third was irradiated 14 years earlier but developed new symptoms and a new brainstem lesion on MRI. Magnetic resonance spectroscopy demonstrated a different degree of malignancy between the old and new lesion. The fourth patient had magnetic resonance spectroscopy of a chronic, large pontine lesion 6 years after diagnosis and radiation. The spectral pattern suggested a low degree of malignancy. The fifth patient had neurofibromatosis type 1 with brainstem lesions. Magnetic resonance spectroscopy suggested neoplastic tissue of low malignancy. These results suggest that magnetic resonance spectroscopy offers additional information for anticipating the degree of anaplasia in children with brainstem tumors. [Copyright &y& Elsevier]

المؤلفون: Giuly, Jules A.¹, Picand, Robert¹, Giuly, Didier¹, Monges, Bruno¹, Nguyen-Cat, Roger¹

المصدر: American Journal of Surgery. Jan2003, Vol. 185 Issue 1, p86-87. 2p.

مصطلحات موضوعية: *TUMORS, *GASTROINTESTINAL system, *COMPUTED tomography, *CONNECTIVE tissue cells, *DIFFERENTIAL diagnosis, *IMMUNOHISTOCHEMISTRY, *MAGNETIC resonance imaging, *NEEDLE biopsy, *RISK assessment, *TUMOR classification, *GASTROINTESTINAL tumors, *TREATMENT effectiveness, *NEUROFIBROMATOSIS 1

مستخلص: : BackgroundWe discuss how the notion of mesenchymal or connective tumors of the digestive tract has passed to the concept of stromal tumors and its links with von Recklinghausen disease, and make special reference to the progress in medical treatment.: MethodsWe have studied one of our own cases and did a review of the literature.: ResultsFor isolated primary lesions, good results are obtained with surgery. For metastatic forms, dramatic improvements have been recently described with STI 51, an inhibitor of tyrosium-kinase.: ConclusionsGastrointestinal stromal tumors are now well understood with immunochemistry analysis. Their links with von Recklinghausen disease deserve attention and are not probably a random event. Primary isolated tumors are best treated by surgery; metastatic or recurrent forms have recently shown dramatic improvement with STI 571. [Copyright &y& Elsevier]