Transcription of 神経線維腫症1型（レックリングハウゼン病） 診療ガイドラ …
1 1 2018 1 1 2 3 4 5 6 7 8 9 10 11 1 1 neurofibromatosis 1 NF1 1 2008 NF1 10 RAS/mitogen activated protein kinase MAPK RASopathies 2 NF1 3 NF1 4 NF1 NF1 1 NF1 2008 2 NF1 clinical question CQ 2014 6 NF1 H26 049 1 2 3 4 5 6 7 8 9 10 11 128 1 17-34 2018 30 17 1 2018 NF1 1882 Friedrich Daniel von Recklinghausen 1990 5 7 NF1
2 2 NF2 1993 8 9 40,000 3,000 1 10 11 NF1 12 17 DNA 350 kb 60 mRNA 11 13 kb 2,818 neurofibromin 250 kDa 13 Ras 14 phosphoinositide 3 mammalian target of rapamycin mTOR 15 NF1 allele allele NF1 genotype phenotype NF1 1 16 17 18 1 1 95% 95% 20% 10% 2%30 10-20% 95% 7-8% 80% 10% 3% 5% IQ 70 6-13% 20% 40-50%
3 20-30% 25% 6-14% 4% 16, 17 18 128 1 17-34 2018 30 1 1988 NIH National Institutes of Health 19 2018 2 6 95% NF1 20 2 1 2018 1 NF1 1 90% 1 2018 1 2 1 6 12 2 23 freckling 4 optic glioma 5 2 Lisch nodule 6 7
4 7 2 1 1 2 3 4 5 6 Unidentified bright object UBO 7 Gastrointestinal stromal tumor, GIST 8 9 10 1 1 5 cm cm 2 1 2 3 1 1 1 128 1 17-34 2018 30 19 1 2018 NIH 90% 21 NF1 Legius 3 NF1 NF1 22 NF1 10% NF1 23
5 NF1 NF1 NF1 24 DNB 3 D N B stage 3 2015 NF1 NF1 RASopathies 4 1 Legius 15 SPRED1 3 NF1 1 2% Legius 25 2 NF2 22 NF2 26 40% 3 DNB Stage 1 D1 N0 B0 Stage 2 D1 D2 N2 B2 Stage 3 D3 N0 B0 Stage 4 D3 N1 B1 Stage 5 D4 N2 B2 D D1 D2 D3 1cm 1,000 D4 N N0 N1 N2 B B0 B1 B2 dystrophic type 20 128 1 17-34 2018 30 1 3 RASopathies Noonan Noonan syndrome with multiple lentigines LEOPARD Cardio-Facio-Cutaneous Costello NF1 McCune-Albright Pro-teus NF1 CT MRI X 27 1 1 1 1
6 7 NF1 10 15 28 NF1 NF1 gastrointestinal stromal tumor GIST 7% 29 50 30 31 32 NF1 4 1 Rasopathies Legius Noonan Noonan syndrome with multiple lentigines LEOPARD Cardio-Facio-Cutaneous Costello 2 McCune-Albright Proteus 128 1 17-34 2018 30 21 1 2018 4 RAS/MAPK mTOR 33 5 1 1 34 a QOL Quality of life 35 36 39 NF1 D3 40
7 B freckling RF 5 1 2018 1 2 Unidentified bright object UBO 3 4 5 Gastrointestinal stromal tumor / / 22 128 1 17-34 2018 30 1 41 c 42 1 d 2 70% 20% 34 NF1 QOL 43 QOL a 1 44 45 46 Nd YAG 47 NF1 48 b nodular plexiform neurofib roma 49 c diffuse plexiform neurofib roma
8 MRI 50 51 52 2 d malignant peripheral nerve sheath tumor 53 54 55 5 40% 56 NF 57 NF1 58 3 a NF1 59 1 2 b NF1 59 60 c 128 1 17-34 2018 30 23 1 2018 61 2 1 WHO grade 1 62 MRI MRI 2 63 3 Unidentified bright object UBO NF1 MRI T2 UBO 64 3 1 10 15 65 Dystrophic type 66 X 2 5
9 67 68 3 69 4 1 Lisch nodule 70 2 optic glioma 71 72 73 74 81 5 1 pheochromocytoma 31 2 GIST c-kit KIT 5 25 29 24 128 1 17-34 2018 30 1 NF1 GIST 3 / / NF1 8 1 82 20% 83 40 50 20 30 17 83 NF1 4 / NF1 10 17 84 NF1 6 14 17 85
