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Results for “Facial angiofibroma”

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7 recordsLinked to original sources
PubMed2025

TSC angiofibroma and ungual fibroma have different mutation signatures, with recurrent mutations in KMT2C.

PURPOSE: Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor syndrome characterized by tumors affecting multiple tissues, including skin, due to inactivating TSC1/TSC2 variants. Genome-wide profiling of somatic mutations in a unique collection of angiofibroma (FAF) and ungual fibroma (UF) TSC skin tumors was performed. METHODS: Genome sequencing was performed on 9 samples, comprising 4 FAF and 5 UF, along with 6 matched normal samples from 6 individuals with TSC. RESULTS: TSC-FAF and TSC-UF skin tumors have different mutation signatures, with a predominance of UV-related single-nucleotide variant (SNV; SBS7a and SBS7b) and dinucleotide variant (DNV; DBS1) signatures in FAF, and aging-related SNV (SBS1 and SBS5) signatures in UF. We also identified a novel DNV signature for TSC-UF, with frequent TG>CA and TT>GG substitutions. Furthermore, 3 inactivating somatic mutations in KMT2C were observed in 2 of 4 TSC-FAF and 5 mutations in other cancer genes. CONCLUSION: The distinct SNV mutation signatures seen in TSC-FAF and UF indicate that they develop through distinct pathogenic mechanisms, UV-induced mutagenesis in FAF, and aging-related mutagenesis in UF. The mechanism of the novel DNV signature in UFs merits further investigation. Our observation on the occurrence of KMT2C mutations suggests that KMT2C inactivation contributes to the pathogenesis of TSC-FAF.

Humans↗
PubMed1976

[Embolization by femoral catheterization of tumors supplied by the external carotid artery. 40 cases].

Experiences from therapeutic embolization by way of superselective catheterization of the external carotid artery, in 40 cases of cranio-cerebral, maxillo-facial and cervical tumours are reported. Using Spongel, embolization offered definite advantages compared to simple arterial ligation: it is easily performed as a supplementary procedure to diagnostic superselective angiography; a meticulous technique will provide superselective arterial occlusion with obstruction of vessels down to the precapillary size (diameter 150 to 200 mu). Embolization is advocated as a preoperative measure in meningeomas (particularly at the skull base), naso-pharyngeal angiofibromas, intracranial and cervical chemodectomas, in which cases profound bleeding during surgery may be expected and as a palliative measure in cases where surgery and radiation therapy fail to control recurrence of a tumour.

Carotid Artery, External↗
PubMed1975

Extranasopharyngeal juvenile angiofibroma.

A rare case of juvenile angiofibroma arising from the base of the skull outside the nasopharynx and extending into the pterygo-maxillary fossa and cheek is discribed. It is possible, by a combined zygomatic and buccal approach, successfully to excise such a tumour.

Adolescent↗
PubMed1977

Therapeutic embolisation of the external carotid arterial tree.

Intra-arterial embolisation is a valuable adjunct to the treatment of many vascular lesions, including neoplasms such as glomus tumours or juvenile angiofibromas, and arteriovenous malformations. Its place in the management of the individual patient should be established before any surgical procedure is carried out, as this may prejudice the eventual result. The indications for the procedure, the technique, and possible complications are discussed in this paper, and it is emphasised that the latter are best avoided by the use of a scrupulous technique and adequate technical facilities.

Adult↗
PubMed1978

[Embolization and balloon occlusions in tumoral processes: seven years' experience (author's transl)].

The authors report 169 therapeutic embolizations in cases of tumoral lesions in the craniocerebral, ENT, and vertebrospinal territories. Most endovascular occlusions performed for tumoral processes are presurgical indications, with the aim of reducing hemorrhage at operation. Embolization becomes practically mandatory for nasopharyngeal angiofibromas, considerably reducing the peroperative bleeding. Indications of embolization for meningiomas must be discussed according to the size and location of the tumors: embolization is especially useful in large tumors or those inserted on the base of the skull, mainly in the middle fossa. In chemodectomas, embolization can be used presurgically or on its own when surgery becomes impossible; angiographic follow-up shows that secondary repermeabilization is frequent in spite of clinical improvement. In malignant tumors of the craniofacial region, indications of embolization must be considered with care because failure of vascularization tends to make radiotherapy less efficient; in these cases, embolization can be useful in reducing pain or to contend with cataclysmal hemorrhages.

Adolescent↗
PubMed1977

Chemical analysis of an angiofibroma from a patient with tuberous sclerosis.

Amino-acid analyses on the acid hydrolysates of an angiofibroma and skin established that the former tissue contained less collagen than skin based on the reduced content of hydroxyproline, glycine, proline and alanine in the tumour. From lysosomal enzyme measurements it became evident that the specific activities of the hexosaminidases, beta-glucuronidase and beta-galactosidase were elevated. Analyses of the alcohol insoluble fraction following pronase digestion revealed that the tumour contained more acidic glycosaminoglycan (AG) than skin as assessed by uronic acid and hexosamine measurements. More outstanding, however, was the seven-fold increase in the total carbohydrate in the AG fraction of the tumour. The overall composition of this fraction was very similar to comparable material from foetal skin except that the tumour fraction contained increased sulphate concentration.

Adult↗