{"id":2055,"date":"2025-03-28T16:46:16","date_gmt":"2025-03-28T16:46:16","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2055"},"modified":"2026-02-22T01:13:50","modified_gmt":"2026-02-22T01:13:50","slug":"analysing-tumours-for-genetic-diagnosis-in-mosaic-neurofibromatosis-type-1","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/03\/28\/analysing-tumours-for-genetic-diagnosis-in-mosaic-neurofibromatosis-type-1\/","title":{"rendered":"Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1 (Contributed by Dr. Tabea Hartung)"},"content":{"rendered":"

Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by a range of mostly benign tumours, including cutaneous neurofibromas. In many cases, the pathogenic variants in the NF1 gene arise de novo, meaning they are not inherited. In some instances, these variants are present only in a subset of cells, a condition known as genetic mosaicism. Mosaic NF1 often presents with a milder clinical phenotype and poses challenges in diagnosis and genetic counselling, as conventional blood-based genetic testing may fail to detect the pathogenic variant. This paper discusses five such cases and proposes a comprehensive diagnostic approach, emphasising tumour-derived DNA analysis as an effective method for detecting mosaic cases. (https:\/\/jmg.bmj.com\/content\/early\/2025\/03\/26\/jmg-2024-110580<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by a range of mostly benign tumours, including cutaneous neurofibromas. In many cases, the pathogenic variants in the NF1 gene arise de novo, meaning they are not inherited. In some instances, these variants are present only in a subset of cells, a condition known as genetic […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2055","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nAnalysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1 (Contributed by Dr. Tabea Hartung) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/03\/28\/analysing-tumours-for-genetic-diagnosis-in-mosaic-neurofibromatosis-type-1\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1 (Contributed by Dr. Tabea Hartung) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by a range of mostly benign tumours, including cutaneous neurofibromas. In many cases, the pathogenic variants in the NF1 gene arise de novo, meaning they are not inherited. 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