Search results for "neurofibroma"
showing 10 items of 54 documents
Craniomaxillofacial morphology alterations in children, adolescents and adults with neurofibromatosis 1 : a cone beam computed tomography analysis of…
2017
Background Oral manifestations are common in neurofibromatosis 1 (NF1), and include jaws and teeth alterations. Our aim was to investigate the craniomaxillofacial morphology of Brazilian children, adolescents and adults with NF1 using cone beam computed tomography. Material and Methods This study was conducted with 36 Brazilian individuals with NF1 with ages ranging from 4 to 75. The participants were submitted to anamnesis, extra and intraoral exam and cephalometric analysis using cone beam computed tomography. Height of the NF1 individuals was compared to the length of jaws and skull base. The results of the cephalometric measurements of the NF1 group were compared with a control group pa…
Desmoplastic melanoma may mimic a cutaneous peripheral nerve sheath tumor: Report of 3 challenging cases
2017
Desmoplastic melanoma (DM) and cutaneous malignant peripheral nerve sheath tumors (MPNST) reveal histological and immunohistochemical similarities, including S100 positivity and negative staining for conventional melanocytic markers. We present 3 cases of cutaneous S100-positive spindle cell tumors in elderly patients, in which first findings led to initial misdiagnoses as cutaneous MPNST and benign peripheral sheath nerve tumor (neurofibroma). The identification of adjacent atypical melanocytic hyperplasia in the overlying skin along with tumor cell proliferation, also in the superficial dermis, the neurotropic component and the absence of any relationship between the tumor and a major ner…
Management of large dorsal diffuse plexiform neurofibroma
2014
Abstract Neurofibromas are considered one of the hallmark signs of neurofibromatosis type 1(NF1). Diffuse plexiform neurofibroma is a congenital NF1-associated tumor, characterized by overgrowth and interference with function of the affected area. The rich vascular plexus associated with neurofibromas, together with their infiltrative pattern, makes them difficult to eradicate. Complications of neurofibromas are rare but include malignant transformation and potentially lifethreatening hemorrhages. The use of the term “giant” to define a neurofibroma is controversial because there is no clear consensus and descriptions are limited to few case reports. We report a case of a large dorsal diffu…
Diagnostic and prognostic value of CD10 in peripheral nerve sheath tumors
2009
Background: Neurofibromas are sporadic or associated with type 1 neurofibromatosis (NF1), with a higher risk of malignant progression. Materials and Methods: We investigated CD10 immunoexpression in 39 peripheral nerve sheath lesions. They were 18 typical, solitary, sporadic neurofibromas (group A) and 21 cases (group B) consisting of 11 NF1-associated cases, 3 malignant peripheral sheath tumors (MPNST) and 8 atypical neurofibromas. Results: CD10 immunopositivity was absent or very weak and focal in group A. On the contrary, CD10 was strongly expressed in group B, including all the MPNST and their metastases, with 95% sensitivity and 72% specificity in distinguishing between the two groups.…
Small bowel gastrointestinal stromal tumor presenting with gastrointestinal bleeding in patient with type 1 Neurofibromatosis: Management and laparos…
2021
Highlights • A multidisciplinary team is mandatory for the correct management of hemorrhagic GIST and its complications. • There is a well-known association between type 1 Neurofibromatosis and GIST. • Type 1 Neurofibromatosis-GIST and sporadic GIST have different behaviour. • In case of localised and resectable GIST surgical treatment is the mainstay. • Laparoscopic approach, if performed correctly, is safe and effective with better short-term outcomes then open surgery.
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
2017
Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Mutation detection is complex, due to the large gene size, the large variety of mutations and the presence of pseudogenes. Using Ion Torrent PGM⢠Platform, 73 mutations were identified in 79 NF1 Italian patients, 51% of which turned out to be novel mutations. Pathogenic status of each variant was classifi…
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia
2013
Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. SPRED1 is a negative regulator of the RAS MAPK pathway and can interact with neurofibromin, the NF1 gene product. Individuals with NF1 have a higher risk of haematological malignancies. SPRED1 is highly expressed in haematopoietic cells and negatively regulates haematopoiesis. SPRED1 seemed to be a good candidate for leukaemia predisposition or transformation. We performed SPRED1 mutation screening and expression status i…
Myofibroma of the oral cavity. A rare spindle cell neoplasm.
2009
Myofibroma is an uncommon spindle cell neoplasm rarely found in oral cavity. Typically, this lesion is seen in neonates and infants with few cases reported in adults patients. In the oral cavity, myofibroma occurs within the submucosal or intramuscular tissue and has a predilection by the tongue, buccal mucosa and lips. Microscopically, a typical biphasic pattern can be observed. Misdiagnosis included benign and malignant spindle cell lesions of nerve tissue or smooth muscle origin, such as neurofibroma, leiomyoma and sarcomas. Thus, immunohistochemical staining is a useful tool to identify the nature of neoplastic cells and to reach an accurate diagnosis. An immunohistochemical panel consi…
Solitary intraosseous neurofibroma of the mandible. Apropos of a case
2010
Neurofibroma is a benign neoplasm derived from peripheral nerves. Most of these are associated with Neurofibromatosis but may also occur as solitary lesions. When found on the head and neck they are generally located in the soft tissue. Intraosseous location is very rare. The following report describes a case of an intraosseous neurofibroma located in the left mandibular ramus of a 14-year-old child. The patient did not had clinical evidence of the lesion and it was found on a routine radiographic examination. Surgical excision of the lesion was scheduled and the sample was submitted to histopathological study. Representative sample cuts were studied using conventional techniques of hematox…
Childhood microphthalmic neurofibromatosis.
1989
We present an atypical case of neurofibromatosis marked by young age at onset, rapid invasiveness of the tumor, the presence of curious autonomic symptoms, cranial malformation and congenital microphthalmus, a combination that suggests a new syndrome, which might be called childhood microphthalmic neurofibromatosis.