Search results for "Fibromatosi"

Malignant Peripheral Nerve Sheath Tumor With Osseous Heterologous Differentiation in Uncommon Locations (Heart and Retropharynx)

2016

We report two cases of malignant peripheral nerve sheath tumor (MPNST) in an uncommon location (heart and retropharynx) both with divergent osseous heterologous differentiation. We present the pathological and immunohistochemical studies that confirmed the neurogenic origin. The histopathology of the tumor arising in the retropharynx showed a transition from a neurofibroma to MPNST, making this a new report of an MPNST arising from a plexiform neurofibroma without neurofibromatosis. Primary cardiac MPNST with osseous differentiation has never been reported before. In conclusion, the histology of MPNSTs is very heterogeneous, showing no specific diagnostic immunoprofile or genetic alteration…

A novel NF1 mutation in a pediatric patient with renal artery aneurysm

2022

Abstract Background Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal arteries. Case presentation We report on a 9-year-old girl with a novel mutation in NF1 gene and renal artery aneurysm, treated by coil embolization and complicated with hypertension. Conclusion Vasculop…

Epulis granulomatosa as an oral manifestation of Klippel-Trénaunay syndrome

2006

The Klippel-Trenaunay syndrome (KTS) was first described by Klippel and Trenaunay in 1900. It is characterized by the triad of hemihypertrophy of soft and hard tissue, naevus flammeus and venous varicosity in the affected area. Though all oral tissues may be affected, only 5% of KTS show manifestations in the head and neck region. Only three cases are described with an oral manifestation, showing gingival overgrowth clinically and histologically corresponding to a pyogenic granuloma. It is still uncertain whether the combination of gingival fibromatosis and KTS is significant or coincidental. We report about a 25-year-old patient with KTS and recidivous gingival fibromatosis, clinically and…

2021

Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013–2018 in Germany and Austria were collected in a multicenter prospective observational study. In five years, 300 children were recruited into the study: 287 with retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma of the optic nerve extending into the eye. Heritable retinoblastoma was diagnosed in 44% of children with retinoblas…

Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report

2017

Myofibromatosis is an uncommon disorder of infancy, characterized by proliferation of myofibroblasts in solitary or multiple nodules. The clinical characteristics depend on the involved sites: Myofibromatosis may develop as a musculoskeletal form, with non-painful swellings and eventual mass effect symptoms, or as a generalized form with visceral involvement and organ failure. Prognosis and therapy vary between the abovementioned patterns. When there is no visceral involvement, the tumors may regress spontaneously; however, the visceral form may represent a lifethreatening condition with poor outcome and it requires aggressive management. Imaging assessment of disease spread is mandatory to…

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…

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…