IllnessNeurofibromatosis, NF1; differential diagnosis

NGS +

[Sanger]

Neurofibromatosis (NF) is a genetic disease with neuroectodermal symptoms and clinical manifestations of systemic and progressive involvement of the skin, nervous system, bones, eyes and other organs. The symptoms vary considerably between individuals. NF1, NF2, Schwannomatosis and similar diseases are summarised under NF. Practically all NF2 mutation carriers develop bilateral vestibular schwannomas by the age of 30. Pathogenic variants can be diagnosed in the vast majority of NF1 and NF2 patients (60-95%). Both forms of NF are inherited autosomal-dominantly, and the penetrance is practically 100%. An inconspicuous genetic finding does not mean that the suspected clinical diagnosis can be excluded with certainty.

References: https://www.ncbi.nlm.nih.gov/books/NBK1109/

https://www.ncbi.nlm.nih.gov/books/NBK1201/

• Alias: NF1 + NF2 + Legius syndrome
• Alias: Von Recklinghausen disease
• Alias: Watson disease (NF1)
• Allelic: Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Melanoma, malignant, somatic (BRAF)
• Allelic: Meningioma, NF2-related, somatic (NF2)
• Allelic: Schwannomatosis, somatic (NF2)
• Allelic: Van Esch-O'Driscoll syndrome, mental retardation, LX, syndromic (POLA1)
• Allelic: Waardenburg syndrome, type 2D (SNAI2)
• Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Fanconi anemia, complementation group A (FANCA)
• Fanconi anemia, complementation group B (FANCB)
• Fanconi anemia, complementation group C (FANCC)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group E (FANCE)
• Fanconi anemia, complementation group F (FANCF)
• Fanconi anemia, complementation group G (FANCG)
• Fanconi anemia, complementation group I (FANCI)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group L (FANCL)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Fanconi anemia, complementation group P (SLX4)
• Hyperpigmentation with or without hypopigmentation (KITLG)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Legius syndrome (SPRED1)
• Meningioma, NF2-related, somatic (NF2)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Muir-Torre syndrome (MLH1, MSH2)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Neurofibromatosis-Noonan syndrome (NF1)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 7 (BRAF)
• Piebaldism (KIT, SNAI2)
• Pigmentary disorder, reticulate, with systemic manifestations, XL (POLA1)