ArticleEinstein (Sao Paulo, Brazil)2026
Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.
Article in Einstein (Sao Paulo, Brazil), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo describe clinical and molecular aspects of a cohort of Brazilian individuals with neurofibromatosis type 1, a neurocutaneous disorder associated with a predisposition to tumors and inter- and intrafamilial variable expressivity.
methodsWe conducted a retrospective study of 50 patients from 30 unrelated families, with features of Neurofibromatosis type 1, who underwent clinical evaluation and whole genome sequencing.
resultsPatient ages ranged from 9 months to 62 years (mean 21.7 years). The most frequent manifestations were café-au-lait (100%), lentiginous macules (94%), Lisch nodules (62%), cutaneous (62%), and plexiform (38%) neurofibromas. Other findings included neurodevelopmental disorders (14%), congenital pseudarthrosis of the tibia (4%), optic pathway glioma (4%), and sphenoid wing dysplasia (2%). Eight individuals presented with tumors other than neurofibromas, including two with malignant peripheral nerve sheath tumors, two with breast cancer, and one each with a dysembryoplastic neuroepithelial tumor, cholangiocarcinoma, pilocytic astrocytoma, and basal cell carcinoma. All probands, except one, tested positive for pathogenic or likely pathogenic variants, of which three (11.1%) were novel (c.3372del, c.7299del, and c.7457_7457+2del), three were recurrent within this series (c.3826C>T, c.5902C>T, and c.6855C>A), and the others were private. Two families (6.6%) presented incidental findings, one in BRCA1 and the other in TMEM127. Three individuals (6.5%) had a second molecular diagnosis: one each with spinocerebellar ataxia type 19, primary ciliary dyskinesia type 3, and XYY syndrome.
conclusionThis study presents the largest cohort of Brazilian individuals with neurofibromatosis type 1 to utilize whole-genome sequencing, identifying three novel germline NF1 variants and two previously unreported double diagnoses.
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