"rarer associations: rhabdomyosarcoma, leiomyoma(s), leiomyosarcoma, ganglioglioma"
"≥2 neurofibromas OR ≥1 plexiform neurofibroma"
"≥2 Lisch nodules OR ≥2 choroidal abnormalities"
"A mnemonic to help remember these diagnostic clinical features is CAFE SPOT."
"a heterozygous pathogenic NF1 variant with a variant allele fraction of 50% in apparently normal tissue such as white blood cells"
Expected headings
"Breast"
"Central nervous system"
"Cutaneous"
"Skeletal"
"Thoracic"
"Vascular"
"Neurofibromatosis affects 1:2500-3000 individuals 3. In half of the cases, the disease is inherited as an autosomal dominant condition. In the other half, the disease is due to a de novo mutation 6. There is a variable expression but 100% penetrance by 5 years of age 6."
"The NF1 gene locus is on chromosome 17q11.2 and the gene product is neurofibromin, which acts as a tumour suppressor of the Ras/MAPK pathway; inactivation of the gene thus predisposes to tumour development 6,12,13. For this reason, the disorder is classified as a RASopathy 12."
"plexiform neurofibroma: considered pathognomonic if present; they may be seen in virtually any location but usually occur in the neck, pelvis, and extremities"
"History and etymology"
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