Neurogenic tumors of the neck

Neurogenic tumors of the neck occur in children and adults. Important parameters to aid in the differential diagnosis are age at presentation, location, and a history of NF or multiple endocrine neoplasia. Schwannoma is the most common solitary neurogenic tumor in the neck and is usually seen in patients between 20 and 50 years of age. The plexiform neurofibroma and multiple localized neurofibromas are characteristic of NF1. MPNSTs are uncommon aggressive lesions that can arise de novo in patients with NF (10% to 30%) and postirradiation. Neuroblastic tumors consist of neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. These tumors typically arise in the chest and abdomen but occasionally present as a primary neck mass. A neck mass with a histologic diagnosis of neuroblastoma is, however, more commonly metastatic from an abdominal neuroblastoma.     

Gastrointestinal stromal tumors in patients with neurofibromatosis: imaging features with clinicopathologic correlation

OBJECTIVE: The purpose of this study was to evaluate the clinical, pathologic, and imaging features of gastrointestinal stromal tumors that occur in patients with neurofibromatosis. CONCLUSION: Gastrointestinal stromal tumors that occur in patients with neurofibromatosis commonly originate from the proximal small intestine and are often multiple. The cross-sectional imaging appearance of gastrointestinal stromal tumors that occur in patients with neurofibromatosis is similar to that of gastrointestinal stromal tumors that occur in the general population.     

MR imaging of spinal tumors in children with neurofibromatosis 1

OBJECTIVE: The need for radiologic surveillance of spinal tumors in children with neurofibromatosis 1 is controversial and unresolved. We aimed to determine the incidence of spinal tumors in asymptomatic patients, describe the imaging findings, and evaluate the clinical usefulness of a prospective MR imaging surveillance program of the spine in children with neurofibromatosis 1. SUBJECTS AND METHODS: Of 62 children consecutively seen in a neurofibromatosis 1 clinic, 53 (85.5%) were recruited for MR imaging of the whole spine. All children satisfied the clinical criteria for diagnosis of neurofibromatosis 1. Imaging findings, clinical signs and symptoms, and subsequent clinical management were reviewed. RESULTS: The patients were 35 boys and 18 girls (age range, 11 months-18 years; mean age, 9.6 years), all of whom were asymptomatic, with no remarkable neurologic signs. Seven children (13.2%) had spinal neurofibromas: four had solitary neurofibromas (two dumbbell, one intradural, and one paraspinal tumor) and three had plexiform neurofibromas of the sacral plexus and thoracic and lumbar nerve sheaths. The incidences of scoliosis, localized cutaneous neurofibromas, and massive soft-tissue neurofibromas were 71.4%, 71.4%, and 28.6%, respectively, in the group with spinal neurofibromas (n = 7), and 30.4%, 39.1%, and 8.7%, respectively, in the group without spinal neurofibromas (n = 46). Patient clinical outcome was affected in only one patient (1.9%) in whom a solitary neurofibroma was resected. Follow-up imaging in 10 patients (mean period, 29 months) showed no evidence of tumor occurrence, progression, or recurrence. CONCLUSION: Although benign spinal neurofibromas are not uncommon in asymptomatic children with neurofibromatosis 1, the clinical usefulness of spine surveillance with MR imaging is limited in these children, making its effectiveness questionable.     

Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype

PURPOSE: To determine the appearance of spinal tumors on magnetic resonance (MR) images of patients with neurofibromatosis 2 (NF2), to assess the biologic behavior of these tumors, and to determine the correlation between NF2 germline mutations and these tumors. MATERIALS AND METHODS: Spinal MR images in 49 patients with NF2 were reviewed retrospectively. Intramedullary and intradural extramedullary tumors were counted, and imaging features and growth patterns of intramedullary tumors were determined. Medical records were reviewed for spinal tumor surgery. Data on spinal tumors and NF2 germline mutations in 37 patients from 19 families were analyzed for genotype-phenotype correlation. RESULTS: Thirty-one patients (63%) had spinal tumors: Twenty-six (53%) had intramedullary tumors, 27 (55%) had intradural extramedullary tumors, and 22 (45%) had at least one tumor of each type. Three (12%) patients with intramedullary tumors versus 16 (59%) with extramedullary tumors had undergone surgery for the respective types of tumors. Compared with patients with all other types of mutations, a higher percentage of patients with nonsense and frameshift mutations had intramedullary tumors (P <.025); these patients also had higher mean numbers of all tumors (P <.001), intramedullary tumors (P <.001), and nerve sheath tumors (NSTs) (P <.001). CONCLUSION: In patients with NF2 and spinal tumors, extramedullary tumors (predominantly NSTs) were present in higher numbers and were associated with more surgery than were intramedullary tumors. Our data suggest that the association between nonsense and frameshift mutations and severe NF2 may extend to specific categories of spinal tumors.     

Fibrosing alveolitis in patients with neurofibromatosis.

Fibrosing alveolitis, or interstitial pulmonary fibrosis, is a common manifestation of neurofibromatosis, and was observed in 7 of 70 patients with the disease. Though neurofibromatosis is congenital, fibrosing alveolitis does not appear until adulthood, and occurs in 20% of patients with the disease who are over 30 years old. Characteristic radiographic findings include linear, interstitial density, and large upper lobe bullae; this combination limits the differential diagnosis. Pathological examination demonstrates alveolar wall thickening progressing to fibrosis and lung destruction. Pulmonary function tests can show obstructive or restrictive lung disease.     

MR of visual pathways in patients with neurofibromatosis

MR was performed on six patients clinically diagnosed as having neurofibromatosis. Owing to its multiplanar capability, MR greatly helped determine the extent of visual pathway disease. We attempted to find specific optimal pulse sequences for evaluating the prechiasmatic, chiasmatic, and retrochiasmatic visual system at 0.35 T. Using spin-echo techniques, we evaluated a T1-weighted sequence (TR 300 msec/TE 35 msec), an intermediate T2-weighted sequence (TR 1500 msec/TE 35 msec), and a T2-weighted sequence (TR 1500 msec/TR 70 msec). We found that the orbital and intracanalicular optic nerves were most accurately and easily seen with the T1-weighted sequence axially and coronally; the chiasm was best seen with the intermediate T2-weighted coronal sequence; and the retrochiasmatic visual pathway was optimally evaluated with T2-weighted spin-echo technique.     

MR imaging of optic pathways in patients with neurofibromatosis

Twenty-one patients with documented neurofibromatosis had MR examinations to evaluate possible intracranial disease. In five cases the indication was a known or suspected optic glioma. Two patients were examined because of a history of seizures; the rest were examined as part of a baseline evaluation. Eighteen patients showed evidence of signal hyperintensity on T2-weighted images. Lesions involved the optic nerves, optic chiasm, optic tracts, lateral geniculate body, optic radiations, basal ganglia, periventricular white matter, cerebellar white matter, and dentate nucleus of the cerebellum. Comparison between MR and concurrent CT scans showed MR to be superior in demonstrating the posterior extent of optic-pathway gliomas. In addition, MR showed focal areas of hyperintensity in the basal ganglia, internal capsule, cerebellum, and/or white matter that were not detected on CT. Although we found MR to be superior to CT in detecting intracranial tumors in patients with neurofibromatosis, and in evaluating the extensive involvement of known lesions, the full clinical implications of our findings remain to be determined.     

Neurogenic tumors in the abdomen: tumor types and imaging characteristics.

There is a broad spectrum of neurogenic tumors that involve the abdomen. These tumors can be classified as those of (a) ganglion cell origin (ganglioneuromas, ganglioneuroblastomas, neuroblastomas), (b) paraganglionic system origin (pheochromocytomas, paragangliomas), and (c) nerve sheath origin (neurilemmomas, neurofibromas, neurofibromatosis, malignant nerve sheath tumors). Abdominal neurogenic tumors are most commonly located in the retroperitoneum, especially in the paraspinal areas and adrenal glands. All of these tumors except neuroblastomas and ganglioneuroblastomas are seen in adult patients. Abdominal neurogenic tumor commonly manifests radiologically as a well-defined, smooth or lobulated mass. Calcification may be seen in all types of neurogenic tumors. The diagnosis of abdominal neurogenic tumor is suggested by the imaging appearance of the lesion, including its location, shape, and internal architecture. Benign and malignant neurogenic tumors are difficult to differentiate unless distant metastatic foci are seen. For malignant tumors, imaging modalities other than computed tomography (CT) and magnetic resonance (MR) imaging may be necessary for staging. However, because most neurogenic tumors in adults are benign, CT and MR imaging can be used to develop a differential diagnosis and help determine the immediate local extent of tumor. Copyright RSNA, 2003.     

十二指肠间质瘤的多层螺旋CT表现及与病理对照

目的：探讨多层螺旋CT表现对十二指肠间质瘤的诊断价值。方法：回顾性分析经手术病理证实的19例十二指肠间质瘤的螺旋CT表现及其三维重组图像,并与病理结果对照。结果：本组19例间质瘤中,良性4例,交界性3例,恶性12例;5例侵犯周围器官。十二指肠间质瘤的CT表现为类圆形、分叶状或形态不规则的软组织肿物,以向肠腔外生长为主（n=14）,肿块内密度均匀或呈混杂密度影。增强扫描显示,肿块呈明显均匀强化（n=2）或呈中央不规则无强化区而周边强化较明显（n=16）。结论：十二指肠间质瘤的CT表现有一定特征性,多层螺旋CT表现有助于定位和定性诊断。     

胰头区域十二指肠间质瘤的影像表现及其与病理的对照研究

目的：分析胰头区域十二指肠间质瘤（DST ）的 CT、MRI表现,旨在提高对该疾患的认识。方法回顾性分析11例经免疫组化证实的十二指肠间质瘤的C T 和M RI表现,11例患者均行C T 检查8例,3例同时行C T和 M RI检查,重点观察肿瘤部位、形态、大小、边界、密度/信号、增强程度及胰胆管扩张等,统计分析C T、M RI表现,并和病理结果作对照分析。结果11例患者中,手术病理结果为良性3例,交界性2例,恶性6例。其中9例位于十二指肠降部（81.8％,9/11）,2例位于水平部（18．2％,2/11）;呈圆形及椭圆形5例（45．5％,5/11）,呈不规则分叶状或浅分叶6例（54．5％,6/11）;肿块向腔内生长3例（27．3％,3/11）,向腔内外生长2例（18．2％,2/11）,向腔外生长6例（54．5％,6/11）。C T和M R平扫肿块呈实性等密度/等信号者3例（27．3％,3/11）,呈囊实性混杂密度/信号者8例（72．7％,8/11）;增强后3例中度至明显均匀强化（27．3％,3/11）,8例呈中度至明显不均匀强化（72．7％,8/11）。病灶内见钙化、气体影、胆管扩张各见1例（9．1％,1/11）。结论 DST 多为腔外生长,中心偏向十二指肠,肿块富血供,呈明显强化;肿块内气体、钙化可能为少见特征表现;如肿块分叶状、局部坏死囊变、强化不均,则多提示为恶性或潜在恶性。     

MR imaging of the corpus callosum in pediatric patients with neurofibromatosis type 1

BACKGROUND AND PURPOSE: Many pediatric patients with neurofibromatosis type 1 (NF-1) have an apparent increased thickness of the corpus callosum (CC) on sagittal T1-weighted images compared with patients not affected by NF-1. In this study, we compared the surface area of the CC in children with NF-1 with that of healthy pediatric control subjects to determine if this was another common intracranial manifestation of NF-1. METHODS: Midsagittal T1-weighted MR images of 43 consecutive children with NF-1 and 43 age- and gender-matched healthy control subjects were reviewed retrospectively. The surface area of the CC and the midsagittal intracranial skull surface (MISS) area were measured five times each on all midsagittal images. A mean CC to mean midline intracranial surface area ratio (CC/MISS) was calculated for each. RESULTS: There is a statistically significant increase in the mean CC surface area in pediatric patients with NF-1 (680 mm2 +/- 98, range 509-974 mm2) compared with control subjects (573 mm2 +/- 83, range 404-797 mm2). The mean MISS is significantly increased in patients with NF-1 (16568 mm2 +/- 1161, range 14107-19394 mm2 vs 15402 mm2 +/- 1133, range 12951-17905 mm2 for control subjects). CC/MISS was also significantly increased in the patients with NF-1 relative to the control subjects (.0410 +/- .0043, range .0330-.0530 vs .0372 +/- .0043, range .0270-.0470 for control subjects). CONCLUSION: A larger midsagittal surface area of the CC is another intracranial manifestation of NF-1 that can be demonstrated by sagittal MR imaging. The etiology is unclear, but could be related to abnormal neurofibromin and Ras protein activity. Potential clinical relevance is discussed herein.     

彩色多普勒超声联合胃超声造影剂对原发性十二指肠肿瘤诊断价值

目的探讨彩色多普勒超声联合胃超声造影剂对原发性十二指肠肿瘤(PTD)的诊断价值。方法选择自2012年1月至2017年7月于沈阳军区总医院就诊的51例PTD患者为研究对象。所有患者均行彩色多普勒超声联合胃超声造影剂及胃镜检查,观察肿瘤发生位置、大小、形态及累及范围等,比较两种检查方法的检出率。结果 51例PTD患者中,鳞癌8例,腺癌31例,腺瘤5例,神经内分泌瘤2例,淋巴瘤2例,间质瘤3例,彩色多普勒超声联合胃超声造影剂检出率为86.3%(44/51),显著高于胃镜检出率60.7%(31/51),差异有统计学意义(P<0.05)。5例十二指肠球部肿瘤,胃镜全部检出,检出率为100.0%(5/5),彩色多普勒超声联合胃超声造影剂漏诊1例,检出率为80.0%(4/5),漏诊肿瘤位于十二指肠球后壁,两种检查方法比较,差异无统计学意义(P>0.05);27例大乳头周围及降部肿瘤,胃镜检出21例,检出率为77.8%,彩色多普勒超声联合胃超声造影剂检出23例,检出率为85.2%,两种检查方法比较,差异无统计学意义(P>0.05);19例十二指肠水平部及升部肿瘤,胃镜检出5例,检出率为26.3%,彩色多普勒超声联合胃超声造影剂检出17例,检出率为89.4%,两种检查方法比较,差异有统计学意义(P<0.05)。结论彩色多普勒超声联合胃超声造影剂检查简便易行,患者痛苦小,具有广泛应用价值,可作为一种无创性检查方法应用于十二指肠肿瘤的筛查诊断。     

Gastrointestinal stromal tumors of the duodenum: CT and barium study findings

OBJECTIVE: The purpose of this study was to describe the CT and radiographic features of gastrointestinal stromal tumors of the duodenum. CONCLUSION: Gastrointestinal stromal tumors of the duodenum appear on barium studies as extrinsically compressing or submucosal masses with or without ulceration. These tumors usually appear on contrast-enhanced CT as well-defined masses with an exoenteric growth pattern and relatively good heterogeneous enhancement.     

Multiple gastrointestinal stromal tumors in a patient with type I neurofibromatosis presenting with tumor rupture and peritonitis

A young woman with type 1 neurofibromatosis (NF-1) complained of abdominal pain for 3 days. Computed tomography disclosed two jejunal tumors with rupture and peritonitis. Surgery revealed two tumors in the jejunum, one of which was ruptured. Specimen examination found four additional intramural nodules between these tumors. Histology proved these tumors were all gastrointestinal stromal tumors (GIST). The finding of multiple digestive tumors associated with peritonitis in an NF-1 patient should lead to the consideration of a ruptured GIST.