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Eddie Luidy Imada Diego Strianese Deepak P. Edward Rawan alThaqib Antionette Price Antje Arnold Hailah Al-Hussain Luigi Marchionni Fausto J. Rodriguez 《Brain pathology (Zurich, Switzerland)》2022,32(1):e13007
Although most commonly benign, neurofibromas (NFs) can have devastating functional and cosmetic effects in addition to the possibility of malignant transformation. Orbitofacial NFs, in particular, may cause progressive, disfiguring tumors of the lid, brow, temple, face, and orbit, and clinical evidence suggests that they may have increased local aggressiveness compared to NFs developing at other sites. The purpose of this study was to identify biological differences between orbitofacial NFs and those occurring at other anatomic sites. We performed RNA-sequencing in orbitofacial (n = 10) and non-orbitofacial (n = 9) NFs. Differential gene expression analysis demonstrated that a variety of gene sets including genes involved in cell proliferation, interferon, and immune-related pathways were enriched in orbitofacial NF. Comparisons with publicly available databases of various Schwann cell tumors and malignant peripheral nerve sheath tumor (MPNST) revealed a significant overlap of differentially expressed genes between orbitofacial versus non-orbitofacial NF and plexiform NF versus MPNST. In summary, we identified gene expression differences between orbitofacial NF and NFs occurring at other locations. Further investigation may be warranted, given that orbitofacial NF are notoriously difficult to treat and associated with disproportionate morbidity. 相似文献
23.
Pascual-Castroviejo I Lopez-Pereira P Savasta S Lopez-Gutierrez JC Lago CM Cisternino M 《Journal of pediatric surgery》2008,43(11):1998-2003
Genitourinary neurofibromas with clitoral involvement in neurofibromatosis type 1 are rare, and even more infrequent are the neurofibromas involving genitalia in males. The most frequent presenting sign of neurofibroma in females is clitoromegaly with pseudopenis, and enlarged penis is the most common sign in males. Labium majus neurofibroma not associated with clitoral involvement is extremely rare. Magnetic resonance imaging demonstration of the neurofibromas has seldom been reported. We report 4 children, 3 girls and 1 boy, with plexiform neurofibromas involving the external genitalia. Three of the 4 patients had histologic confirmation of neurofibroma. Two girls with clitoral hypertrophy had a neurofibroma that infiltrated the clitoris and extended unilaterally to the lower bladder wall. One girl had a plexiform neurofibroma that affected a labium. One boy with asymmetric penile hypertrophy since 2 years of age and ipsilateral gluteal hypertrophy had plexiform neurofibromas that extended between the left lumbogluteal and penile regions, infiltrating the left rectum wall and bladder with compression of both structures, the left prostate, and the left half of the cavernous corpi with hypertrophy of this part and asymmetry of the penis. Magnetic resonance imaging demonstrated in all patients that external genitalia and plexiform neurofibroma formed images of nondetachable structures. However, hermaphroditism was discarded by chromosomal study in all 3 girls before ratifying the diagnosis of external genitalia neurofibroma. 相似文献
24.
J. Cangiarella J. Jagirdar H. Adelman G. Budzilovich M. A. Greco 《Fetal and pediatric pathology》1993,13(3):281-288
Mucosal neuromas (MN), a component of multiple endocrine neoplasia (MEN) type IIb, may be confused histologically with plexiform neurofibromas (PN), a component of neurofibromatosis. The ability to distinguish between these two markers for different genetic diseases is crucial, as the risk of development of medullary thyroid carcinoma and pheochromocytoma in affected patients with MEN IIb is great. We studied two cases each of MN and PN by immunocytochemistry (IC). Epithelial membrane antigen (EMA) proved to be the most useful marker. MN consisted of bundles of disorganized and tortuous nerve fibers surrounded by a thickened perineurium that expressed the cellular phenotype EMA(+), S-100(-). PN consisted of enlarged neroe fascicles with a loose myxoid stroma and was EMA negative. Thus, IC highlighted the differing pattern of growth and histogenesis of the proliferating cells in the two lesions and is likely to be especially useful in those lesions with atypical histology. 相似文献
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Yoshihiro Nishida Kunihiro Ikuta Shinji Ito Hiroshi Urakawa Tomohisa Sakai Hiroshi Koike Kan Ito Shiro Imagama 《Cancer science》2021,112(3):1114-1122
The purposes of this study were to re-confirm the usefulness of PET/CT in the differentiation of benignity/malignancy of neurogenic tumors in NF1 patients, and to analyze the natural course of plexiform neurofibroma (pNF) and clarify whether PET/CT is also useful for detecting tumors other than neurogenic tumors. PET/CT was prospectively imaged in 36 NF1 patients. There were 14 malignant peripheral nerve sheath tumors (MPNSTs) in 14 patients, and 54 pNFs in 30 patients. Nine patients had both MPNST and pNF. Maximal standardized uptake value (SUVmax) was significantly higher in MPNST (median 7.6: range 4.1-10.4) (P < .001) compared with that of pNF (median 3.7: range 1.6-9.3). The cut-off value of 5.8 resulted in a sensitivity of 78.6% and specificity of 88.9%. Median age was 29 y, and median maximum tumor diameter was 82 mm in 14 MPNST patients. The 5-y overall survival rate was 46.8%. Three patients with low-grade MPNST were alive without disease at the time of this report. In 9 patients in which pNF and MPNST co-existed, 2 showed a higher SUVmax of pNF than that of MPNST. Natural history analysis of pNF (n = 43) revealed that no factors significantly correlated with increased tumor size. Nine lesions other than neurogenic tumors were detected by PET/CT including 5 thyroid lesions and 3 malignant neoplasms. This study revealed the usefulness and limitation of PET/CT for NF1 patients. In the future, it will be necessary to study how to detect over time the malignant transformation of pNF to MPNST, via an intermediate tumor. 相似文献
27.
Aditya Joshi Moira Lancelot Nandita R. Bhattacharjee Sruthi Polavarapu Efstathios Beltaos Babatunde Sobowale 《Clinical Medicine & Research》2015,13(1):36-40
We describe a premature neonate with an extensive plexiform neurofibroma. Prenatal ultrasound at 32 weeks of gestation was normal. Postnatal examination was significant for a palpable left neck mass. Magnetic resonance imaging (MRI) of the head demonstrated a mass involving the left cavernous sinus with spreading to the left orbital region. MRI of the neck was positive for extensive adenopathy, left more than right, with extension into the deep face region and infratemporal fossa on the left side. MRI of the chest, abdomen, and pelvis demonstrated a mass extending from the superior mediastinum to the left pelvic retroperitoneal region, including the mesenteric vasculature and spinal canal at multiple levels with compression of the spinal cord. Biopsy of the left neck mass confirmed for plexiform neurofibroma. A careful search of the literature revealed no previous report of such an extensive neurofibroma in a premature neonate. Surgical decompression in this premature neonate was not possible because of the extensive nature of the disease; it is known that neurofibroma is non-respondent to chemotherapy and radiotherapy. Therefore, alternative treatment is needed to improve the outcome. 相似文献
28.
We report two cases of choroidal neurofibromatosis, detected with the aid of indocyanine green angiography (ICGA) in patients with neurofibromatosis (NF)-1, otherwise having obscure findings based on ophthalmoscopy and fluoresceine angiography (FA). In case 1, the ophthalmoscopic exam showed diffuse bright or yellowish patched areas with irregular and blunt borders at the posterior pole. The FA showed multiple hyperfluorescent areas at the posterior pole in the early phase, which then showed more hyperfluorescence without leakage or extent in the late phase. The ICGA showed diffuse hypofluorescent areas in both the early and late phases, and the deep choroidal vessels were also visible. In case 2, the fundus showed no abnormal findings, and the FA showed weakly hypofluorescent areas with indefinite borders in both eyes. With the ICGA, these areas were more hypofluorescent and had clear borders. Choroidal involvement in NF-1 seems to occur more than expected. In selected cases, ICGA is a useful tool to be utilized when an ocular examination is conducted in a patient that has no definite findings based on the ophthalmoscope, B-scan, or FA tests. 相似文献
29.
Yoshinori Murao Seiji Miyamoto Hiroshige Nakano Shunsuke Imai Toshihiro Ozawa Atsushi Hirai Ryuji Nunotani 《Surgery today》1995,25(5):436-439
We report herein the case of a 71-year-old-Japanese woman who was admitted to hospital for surgical treatment of a lower abdominal tumor. At laparotomy the tumor was found to be pedunculated and growing extramurally from the greater curvature of the stomach. Thus, a wedge resection of the stomach, including the mass, was performed. The tumor measured about 9×8×7 cm and histological examination of the resected specimen showed that the main elements consisted of wavy, long-spindled cells, which crossed irregularly, indicating that it was palisading negative. Immunohistochemically, the specimen was positive for both S-100 protein and Alcian blue. From these findings, the tumor was histologically diagnosed as a neurofibroma. The patient had an uneventful postoperative course and no signs of recurrence have been recognized in the 3 years since her operation. 相似文献
30.