ライフサイエンスコーパス: NF1

1 NF1 alone, although not lethal to animals, became highly

2 NF1 deficiency resulted in increased tumor-associated ma

3 NF1 inhibited growth of NF2 on solid media, but ExoA of

4 NF1 is caused by mutations in the NF1 gene, which encode

5 NF1 patients have evidence of chronic inflammation resul

6 NF1 patients presenting new symptoms or enlarging lesion

7 NF1 was the only gene that was recurrently somatically i

8 the crossover sites identified in 78 type 1 NF1 deletions mediated by NAHR indicated that PRS2 is a

9 A in the context of the neurofibromatosis 1 (NF1) inherited tumor predisposition syndrome.

10 Children with neurofibromatosis-1 (NF1) are at risk for developing numerous nervous system

11 s for the RasGAPs RASA1 and neurofibromin 1 (NF1) in T cells through the generation and analysis of T

12 ion of the tumor suppressor neurofibromin 1 (NF1) presents a newly characterized melanoma subtype, fo

13 tify a major Ras regulator, neurofibromin 1 (NF1), as a direct effector of GPCR signaling via Gbetaga

14 (VHL; n = 2); RET (n = 12); neurofibromin 1 (NF1; n = 2); and MYC-associated factor X (MAX; n = 1), a

15 Neurofibromatosis type 1 (NF1) and Legius syndrome are related diseases with parti

16 umors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, a

17 are a hallmark of neurofibromatosis type 1 (NF1) and type 2 (NF2) and schwannomatosis.

18 r in patients with neurofibromatosis type 1 (NF1) by cancer type, age, and sex with unprecedented acc

19 Children with neurofibromatosis type 1 (NF1) cancer predisposition syndrome are prone to the dev

20 Children with neurofibromatosis type 1 (NF1) develop low-grade brain tumors throughout the optic

21 Individuals with neurofibromatosis type 1 (NF1) frequently exhibit cognitive and motor impairments

22 hway glioma and/or neurofibromatosis type 1 (NF1) had multiple 6 x 6 mm volumes (isotropic 300 x 300

23 Persons with neurofibromatosis type 1 (NF1) have a predisposition for premature and severe arte

24 Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurologic condition

25 Neurofibromatosis type 1 (NF1) is a common neurodevelopmental disorder caused by i

26 Neurofibromatosis type 1 (NF1) is a common neurodevelopmental disorder in which af

27 Neurofibromatosis type 1 (NF1) is a common neurogenetic condition characterized by

28 Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected

29 Neurofibromatosis type 1 (NF1) is a common tumor-predisposition disorder due to ge

30 Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder involving aberran

31 Neurofibromatosis type 1 (NF1) is an inherited disease in which affected patients

32 Neurofibromatosis type 1 (NF1) patients are predisposed to neurofibromas but the d

33 cause of death in neurofibromatosis type 1 (NF1) patients under 40 years old.

34 Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor-suppressor

35 , quality of life, neurofibromatosis type 1 (NF1) status, and BRAF mutation/fusion status were also d

36 en and adults with neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a

37 en and adults with neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a

38 Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence o

39 on of which causes Neurofibromatosis type 1 (NF1), a genetic disorder characterized by multiple benig

40 re associated with neurofibromatosis type 1 (NF1), a prominent inherited genetic disease in humans.

41 from patients with neurofibromatosis type 1 (NF1), a single-gene multifaceted disorder with comparati

42 g in patients with neurofibromatosis type 1 (NF1), and early detection of this association and prompt

43 on mutations cause Neurofibromatosis Type 1 (NF1), contributes to the majority ( approximately 90%) o

44 n individuals with neurofibromatosis type 1 (NF1).

45 y in patients with neurofibromatosis type 1 (NF1).

46 early hallmarks of neurofibromatosis type 1 (NF1).

47 urogenetic disease neurofibromatosis type 1 (NF1).

48 ) in patients with neurofibromatosis type 1 (NF1).

49 cutaneous disorder neurofibromatosis type 1 (NF1).

50 rs associated with neurofibromatosis type 1 (NF1).

51 r in patients with neurofibromatosis type 1 (NF1).

52 Deep ( 500X) NF1 exon sequencing was also conducted on tumor DNA.

53 (in 50 patients), APC (in 6), BRCA2 (in 6), NF1 (in 4), PMS2 (in 4), RB1 (in 3), and RUNX1 (in 3).

54 ncluding TP53 (13%), NRAS (13%), SNX31 (9%), NF1 (9%), KIT (7%) and APC (7%).

55 A subclonal population marked by a NF1 deletion showed a progressive increase in tumour all

56 were identified in 73% of samples, affecting NF1, CBL, ERBB2, MAP2K1, MAP3K1, BRAF, EGFR, PTPN11, MET

57 Moreover, while all NF1-patient NPCs exhibit increased RAS activation and re

58 Although NF1 is a classic monogenic syndrome, the clinical featur

59 Although NF1 is a relatively common disease in which routine opht

60 CLINICAL RELEVANCE: Although NF1 is a relatively common disease in which routine opht

61 An NF1 reporter is recruited to nascent macropinosomes, sug

62 anscriptome analysis we identified MAF as an NF1- regulated transcription factor and verified MAF reg

63 ints in 85 unrelated individuals carrying an NF1 intragenic CNV.

64 ation of premature cellular senescence in an NF1-deficient background.

65 ised to neurofibromatosis type 1 based on an NF1 nonsense mutation detected in this patient.

66 -756 inhibited the growth of NRAS, BRAF, and NF1-mutant melanomas in vitro and delayed the onset and

67 5-year survival of patients with cancer and NF1, excluding nervous tissue cancers, was worse than th

68 to include PRKAR1A, RPL22, TERF2, CCNE1, and NF1.

69 ng four known drivers (HRAS, RET, EPAS1, and NF1).

70 the MLH1 and PMS2 mismatch repair genes; and NF1 were not associated with increased risks of breast c

71 s and lack mutations in BRAF, NRAS, KIT, and NF1.

72 RAF pathway genes BRAF, EGFR, KRAS, MET, and NF1, indicating an important driver role for this gene.

73 lterations of CDKN2A (81% of all MPNSTs) and NF1 (72% of non-NF1-associated MPNSTs), both of which si

74 PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1.

75 d TP53 in cutaneous melanoma, BRAF, NRAS and NF1 in acral melanoma and SF3B1 in mucosal melanoma.

76 of not only BRAF, but also several NRAS and NF1 mutant melanomas.

77 Genetic alterations in BRAF, NRAS and NF1 that activate the ERK cascade, account for over 80%

78 of the tumors and were common in PIK3CA and NF1 and in genes that are involved in chromatin modifica

79 These findings highlight RASA1 and NF1 as cotumor suppressors in the T cell lineage.

80 on and analysis of T cell-specific RASA1 and NF1 double-deficient mice.

81 ted within the low-copy repeats NF1-REPa and NF1-REPc, which flank the human NF1 gene region.

82 in expression in 48% and 90% of sporadic and NF1-syndromic GISTs, respectively, and in three of eight

83 MAX mutations in 17% and 50% of sporadic and NF1-syndromic GISTs, respectively, and we find loss of M

84 mice to model tumors from NF1-wild-type and NF1-associated patients, respectively.

85 incidence of mutation in these genes to be: NF1 (56/64 = 87.5%).

86 evelop molecular targeted therapies for both NF1 and NF2-related tumors, such as within the Departmen

87 y targetable mutations were in PIK3CA, BRAF, NF1, NRAS, and PTEN We also noted a high burden of NsM i

88 are benign peripheral nerve tumors driven by NF1 loss in Schwann cells (SCs).

89 MDM4, and CDK4 amplification; PTEN, CDKN2A, NF1, and RB1 loss).

90 In contrast, normal skin Schwann cells (NF1(+/-), NF1(-/-)) did not express CRABP2.

91 t in these individuals compared with classic NF1-affected cohorts (both p < 0.0001).

92 Plexiform neurofibromas are common NF1 tumors carrying a risk of malignant transformation,

93 xpected connection between the PRC2 complex, NF1 and Ras, but also identify a promising epigenetic-ba

94 nd specific inactivation of PRC2 components, NF1 and CDKN2A highlights their critical and potentially

95 re, using mouse models to direct conditional NF1 ablation in either embryonic cerebellar progenitors

96 ion of induced pluripotent stem cell-derived NF1 patient neural progenitor cells and Nf1 genetically

97 One individual with three PNs had different NF1 somatic mutations in each tumor.

98 One of the most frequent monogenic diseases, NF1 has subsequently been characterized with numerous be

99 Our analysis established NF1, encoding a negative regulator of RAS, as the third

100 Establishing NF1 as a monogenic cause for ASD has important implicati

101 developing precision medicine approaches for NF1 is an incomplete understanding of the factors that u

102 henotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single

103 and CCR2 as a viable therapeutic target for NF1 arterial stenosis.

104 tion, there were no effective treatments for NF1 and few promising approaches on the horizon.

105 tology department affiliated with the French NF1 referral center network.

106 hich closely resembles arterial lesions from NF1 patients.

107 A total of 531 individuals recruited from NF1 clinical centers were included in the study.

108 paired littermate mice to model tumors from NF1-wild-type and NF1-associated patients, respectively.

109 mline mutations in the tumor suppressor gene NF1.

110 velop malignancies compared with the general NF1-affected population (p = 0.0061).

111 by alterations of the tumor suppressor genes NF1 (encoding the protein neurofibromin) and SPRED1 (enc

112 d the products of the tumor suppressor genes NF1 and NF2 as potent microtubule-stabilizing proteins.

113 rgeting >700 kilobases surrounding the genes NF1, NF2, and CUL3, which are involved in BRAF inhibitor

114 andidates include previously validated genes NF1 and MED12, as well as novel hits NF2, CUL3, TADA2B,

115 first demonstration that different germline NF1 gene mutations differentially dictate neurofibromin

116 ithin individuals who bear the same germline NF1 gene mutation.

117 tions, suggesting that the specific germline NF1 gene mutation may be one factor underlying disease h

118 udy was to define the impact of the germline NF1 gene mutation on brain neurofibromin function releva

119 To determine the impact of the germline NF1 gene mutation on the optic gliomas frequently encoun

120 We identified 100% of the germline NF1 mutations and found somatic NF1 inactivation in 74%

121 tumors (55.5%), and 13 patients (24.1%) had NF1.

122 Of 275 patients with RVPTs, 6 (2.2%) had NF1.

123 an optic pathway glioma and 10 subjects had NF1 without an optic pathway glioma.

124 PI3K (PIK3CA, AKT1, PIK3CG) and MAPK (HRAS, NF1) pathway members and the receptor tyrosine kinase FG

125 Herein, we employ human NF1-patient primary skin fibroblasts, induced pluripoten

126 knockdown of CRABP2 was established in human NF1-associated MPNST cell lines (S462, T265, NSF1), and

127 that mast cells were also enriched in human NF1-associated MPNST.

128 Specifically, we evaluated primary human NF1-deficient peripheral nervous system tumors and found

129 observed that multiple variants in the human NF1 gene are associated with a quantitative measure of a

130 NF1-REPa and NF1-REPc, which flank the human NF1 gene region.

131 th multiple strains of Aeromonas hydrophila (NF1-NF4), the latter three constituted a clonal group wh

132 Neurofibromatosis type I (NF1) is an autosomal disorder that affects neural crest-

133 In NF1-iN cells on day 14, higher expression of FOS mRNA wa

134 (intraclass correlation coefficient, 0.73 in NF1-affected first-degree relatives) exceeded that obser

135 hat might underlie neuronal abnormalities in NF1 patients.

136 Ras, an oncogene constitutively activated in NF1-associated MPNSTs, while PTT serves as a minimally i

137 Notably, alterations in NF1 frequently co-occurred with RAS and BRAF alterations

138 Retinal vascular alterations in NF1 have rarely been reported in the literature and thei

139 rotein translational regulator EIF1AX and in NF1, USP9X, KRAS, BRAF, and NRAS RAS pathway mutations w

140 FDG PET/CT discriminates MPNSTs from BNFs in NF1 patients with similar accuracy on both early and del

141 An up-regulation of beta-catenin in NF1 causes a shift away from osteoblastic differentiatio

142 nhibition underlies the learning deficits in NF1, however, the molecular mechanism underlying this ce

143 the importance of HCN channel dysfunction in NF1.

144 Interestingly, BCL2 mRNA was higher in NF1-iN cells on day 5 (early-period) but not on day 14.

145 PH domains carrying mutations identified in NF1 patients that prevent interaction with the 5-HT6 rec

146 induction, relatively long tumor latency in NF1 patients suggests that additional genetic or epigene

147 -3 RNA binding family member D) was lower in NF1-iN cells by real-time PCR with 12 sex-mixed samples.

148 Genetic and chemical suppression of MNKs in NF1-deficient murine tumor models and human cell lines p

149 s contributing to the formation of MPNSTs in NF1 patients, we used a zebrafish tumor model defined by

150 % of MPSNTs are associated with mutations in NF1 tumor suppressor gene, resulting in activation of Ra

151 We report recurrent mutations in NF1, SUZ12, EED, TP53 and CDKN2A in our study cohort.

152 d melanomas by cooperating with mutations in NF1.

153 Neurofibromas in NF1 and schwannomas in NF2 or schwannomatosis are define

154 8 (ADCY8) that correlate with glioma risk in NF1 in a sex-specific manner, elevating risk in females

155 ifying ADCY8 as a modifier of glioma risk in NF1.

156 1 effector eIF4E, are therapeutic targets in NF1-deficient malignancies.

157 We also found that genetic variation in NF1 may confer an inherent susceptibility to the transit

158 Inactivating NF1 mutations were present in 46% of melanomas expressin

159 r of somatic mutations per sample, including NF1, was one (range 0-8).

160 yses, it was found that, in mixed infection, NF1 selectively disseminated to mouse peripheral organs,

161 ediated by flanking low-copy repeats (LCRs), NF1 intragenic rearrangements vary in size, location, an

162 Our results link NF1 with macropinocytosis and phagocytosis for the first

163 iN cells from male healthy controls and male NF1 patients (NF1-iN cells) revealed that 149 genes expr

164 lance (CD58, RFXAP), MAPK signaling (MAP2K1, NF1), NF-kappaB signaling (PRKCB, CSNK1A1), PI-3-kinase

165 EGFR, FGFR1, FGFR2, KIT, KRAS, MAP2K1, MET, NF1, NF2, NRAS, RAF1, RET, and ROS1 were found in 90 (72

166 Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/

167 pecific inactivation have been used to model NF1.

168 tumorigenesis were observed, including mTOR, NF1, NF2, MLH1, MLH3, MSH5, MSH6, ERBB2, EIF1AX and USH2

169 therapeutic prevention strategy for multiple NF1-associcated developmental abnormalities.

170 Neurofibromin 1-mutant (NF1-mutant) cancers are driven by excessive Ras signalin

171 ly expressed genes and well-known mutations (NF1, IDH1, EGFR) that were uniquely correlated with each

172 e mutation affecting one of five neighboring NF1 codons-Leu844, Cys845, Ala846, Leu847, and Gly848-lo

173 k in patients with type I neurofibromatosis (NF1) could help support personalized tumor surveillance,

174 Type I neurofibromatosis (NF1) is caused by mutations in the NF1 gene encoding neu

175 This gene encodes the RasGAP Neurofibromin (NF1).

176 ntrast, normal skin Schwann cells (NF1(+/-), NF1(-/-)) did not express CRABP2.

177 Non-NF1 somatic mutation verification was performed using th

178 KN2A (81% of all MPNSTs) and NF1 (72% of non-NF1-associated MPNSTs), both of which significantly co-o

179 We found no recurrent non-NF1 locus copy-number variation in PN.

180 To better understand the non-NF1 genetic contributions to PN pathogenesis, we perform

181 tically, we demonstrate that HCN1 is a novel NF1-interacting protein for which loss of NF1 results in

182 ed in known oncogenes, including BRAF, NRAS, NF1, EGFR, ALK, TERT, and APC.

183 tions involving the Ras pathway (KRAS, NRAS, NF1, PTPN11) in 6% of those with Ph-like ALL.

184 ay, with driver mutations in the KRAS, NRAS, NF1, PTPN11, or CBL genes.

185 8% of patients demonstrated driver BRAF/NRAS/NF1 mutations.

186 ted CD74-NRG1 fusion and suggests that NRG1, NF1 and Hippo pathway fusions may play important roles i

187 ts (EED or SUZ12) in 92% of sporadic, 70% of NF1-associated and 90% of radiotherapy-associated MPNSTs

188 We also investigated the associations of NF1 polymorphisms with alcohol dependence risk and sever

189 ome 17 alterations involving the deletion of NF1 (another RAS negative regulator) and TP53.

190 Deletion of NF1 in striatal neurons prevents the opioid-receptor-ind

191 pear helpful in improving early diagnosis of NF1 in young children and infants.

192 of rapamycin signaling, a known effector of NF1 loss.

193 s review highlights the clinical features of NF1 and the use of genetically engineered mouse models t

194 A virtually pathognomonic finding of NF1 is the plexiform neurofibroma (PN), a benign, likely

195 that arises from bi-allelic inactivation of NF1.

196 In addition, loss of NF1 did not predict sensitivity to MEK or ERK inhibitors

197 Loss of NF1 enables axenic growth by increasing fluid uptake.

198 We conclude that loss of NF1 is common in cutaneous melanoma and is associated wi

199 el NF1-interacting protein for which loss of NF1 results in a concomitant increase of interneuron exc

200 ines with high levels of RAS-GTP had loss of NF1, a RAS GTPase activating protein.

201 stenosis is a nonneoplastic manifestation of NF1 that predisposes some patients to debilitating morbi

202 s for aneurysm formation in a novel model of NF1 vasculopathy and provide a potential therapeutic tar

203 However, the molecular pathogenesis of NF1 aneurysm formation is unknown.

204 e the molecular and cellular pathogenesis of NF1-associated nervous system tumors.

205 anistic insights into the pathophysiology of NF1-associated cognitive defects, and identify a novel t

206 ines continuum of the neuronal phenotypes of NF1 with ASD.

207 virulence was attenuated in the presence of NF1 (exoA-minus).

208 gmented virulence of NF1 and the presence of NF1 facilitated clearance of NF2 from animals either by

209 sive genetic analysis reveals the primacy of NF1 loss as the driver of PN tumorigenesis.

210 and mTORC1 suppression causes regression of NF1-deficient malignancies in animal models, the potenti

211 as pathways and establish a critical role of NF1 in opioid addiction.

212 and whole-transcriptome sequencing study of NF1-associated PN.

213 edia, but ExoA of NF2 augmented virulence of NF1 and the presence of NF1 facilitated clearance of NF2

214 Forty-one NF1 patients with early and delayed (18)F-FDG PET/CT sca

215 mutations of PTPN-11, K-RAS, N-RAS, CBL, or NF1 in their leukemic cells.

216 BRAF mutations also harbour RAS mutations or NF1 deletions.

217 rs and significantly co-occurred with RAS or NF1 mutations.

218 fered to any child with PTPN-11-, K-RAS-, or NF1-mutated JMML and to the majority of those with N-RAS

219 medium spiny neurons of the direct pathway, NF1 regulates opioid-induced changes in Ras activity, th

220 male healthy controls and male NF1 patients (NF1-iN cells) revealed that 149 genes expressions were s

221 KIT, PDGFRA, NF1 and SDH mutations are alternate initiating events, f

222 tive autistic trait (QAT) burden in a pooled NF1 data set.

223 targeting of three tumor suppressors (PTEN, NF1 and P53) resulted in formation of glioblastoma tumor

224 those of two additional previously published NF1 intragenic CNVs.

225 and patches become enlarged when the RasGAP NF1 is mutated, showing that Ras plays an instructive ro

226 only inactivates the tumour suppressors RB1, NF1, RAD51B and PTEN in HGSC, and contributes to acquire

227 Relatedly, NF1 mutants can ingest larger-than-normal particles usin

228 0 kb and located within the low-copy repeats NF1-REPa and NF1-REPc, which flank the human NF1 gene re

229 engineered mice harboring two representative NF1-patient-derived Nf1 gene mutations (c.2542G>C;p.G848

230 NET expression in hereditary cluster 2 (RET, NF1, MAX) and apparently sporadic tumors was significant

231 the germline NF1 mutations and found somatic NF1 inactivation in 74% of the PN.

232 As such, NF1 affords unique opportunities to define the factors t

233 Haploinsufficiency in the tumor suppressor NF1 contributes to the pathobiology of neurofibromatosis

234 sociated with ovarian cancer susceptibility (NF1, MAP3K4, CDKN2B and MLL3).

235 Targeting NF1, by contrast, caused increased astrocytogenesis at t

236 s of mutations affecting CDH1, MAP2K4, TBX3, NF1, ATM, and ARID1A.

237 phagocytized and killed by macrophages than NF1.

238 We conclude that NF1 is a key tumor suppressor lost in melanomas, and tha

239 progenitor cells (NPCs) to demonstrate that NF1 germline mutations have dramatic effects on neurofib

240 In the present study, we demonstrate that NF1 melanocytes reproduce the hyperpigmentation phenotyp

241 osis for the first time, and we propose that NF1 evolved in early phagotrophs to spatially modulate R

242 Functional studies showed that NF1 suppression led to increased RAS activation in most,

243 atosis type 1-associated tumors suggest that NF1 tumor suppressor loss in Schwann cells triggers cell

244 d to nascent macropinosomes, suggesting that NF1 limits their size by locally inhibiting Ras signalli

245 The NF1 gene encodes for neurofibromin, a RAS GTPase-activat

246 A genotype-phenotype correlation at the NF1 region 844-848 exists and will be valuable in the ma

247 omin is a multidomain protein encoded by the NF1 gene, the mutation of which causes Neurofibromatosis

248 Large deletions encompassing the NF1 gene and its flanking regions belong to the group of

249 lish a critical cell-autonomous role for the NF1-RAS-ERK pathway in the appropriate regulation of cer

250 omatosis (NF1) is caused by mutations in the NF1 gene encoding neurofibromin.

251 Mutations in the NF1 gene result in decreased expression of neurofibromin

252 NF1 is caused by mutations in the NF1 gene, which encodes the RAS GTPase-activating protei

253 Caused by a germline mutation in the NF1 tumor suppressor gene, individuals with NF1 are pron

254 s type 1 (NF1) results from mutations in the NF1 tumor-suppressor gene, which encodes neurofibromin,

255 is well established that neurofibromin, the NF1 gene product, is an antioncogene that down-regulates

256 With the identification of the NF1 and NF2 genes, molecularly targeted therapies are be

257 Although loss of the NF1 gene predisposes to MPNST induction, relatively long

258 ogether, our results clarify the role of the NF1-haploinsufficient tumor microenvironment in MPNST.

259 Our results demonstrate that these NF1 missense mutations, although located outside the GAP

260 Autistic symptoms in this NF1 cohort demonstrated a robust unitary factor structur

261 that cerebellar defects likely contribute to NF1-associated neurodevelopmental disorders.

262 ggest that aberrant molecular signals due to NF1 mutations may disturb gene expressions, a subset of

263 We find that binding of Gbetagamma to NF1 inhibits its ability to inactivate Ras.

264 to be the predominant mechanisms leading to NF1 intragenic CNVs.

265 the diversity of mutations that give rise to NF1 function as quantitative trait loci for ASD.

266 of sporadic human malignancies unrelated to NF1.

267 genes for melanoma, including CDKN2A, TP53, NF1, RAC1, and PTEN, were not found among any melanocyti

268 natal ERK inhibitor-based therapies to treat NF1-induced cerebellar disorders.

269 astoma is a classical "developmental tumor", NF1 relies on a very different mechanism to suppress mal

270 r understanding of the mechanisms underlying NF1 and NF2 protein function.

271 tions affect approximately 0.8% of unrelated NF1 mutation-positive probands in the University of Alab

272 peripheral nerve sheath tumors (MPNST) where NF1 mutations also occur.

273 ter three constituted a clonal group whereas NF1 was phylogenetically distinct.

274 mors encountered in children and adults with NF1 and NF2.

275 pression of wild-type PDGFRA associated with NF1 deficiency leads to aberrant activation of downstrea

276 s, the cancers traditionally associated with NF1, we observed SIRs of 2,056 (95% CI, 1,561 to 2,658),

277 (NA) are commonly observed in children with NF1 and may be useful diagnostic clues.

278 Although children with NF1 are at risk for developing low-grade gliomas of the

279 omas frequently encountered in children with NF1, we developed genetically engineered mice harboring

280 NF1 tumor suppressor gene, individuals with NF1 are prone to optic gliomas, malignant gliomas, neuro

281 A population-based series of patients with NF1 (N = 1,404; 19,076 person-years) was linked to incid

282 overall SIRs were observed in patients with NF1 age < 15 years: women, 87.6 (95% CI, 58.6 to 125); m

283 ial pseudarthrosis tissue from patients with NF1 and found elevated levels of beta-catenin compared t

284 Patients with NF1 had a significantly better PFS (85.1%; 95% CI, 68.0%

285 of this combination therapy in patients with NF1 mutant melanoma.

286 Patients with NF1 should undergo periodic ophthalmic examination for d

287 mated lifetime cancer risk for patients with NF1 was 59.6%.

288 Percentage of patients with NF1 who had JXG or NA categorized into 4 age groups.

289 igh frequency of JXG and NA in patients with NF1, especially in children younger than 2 years with fe

290 rentiating MPNSTs from BNFs in patients with NF1, with and without liver activity normalization.

291 Patients with NF1-associated MPNST appear to have worse outcomes than

292 tions and focused follow-up of patients with NF1.

293 e general cancer proclivity of patients with NF1.

294 sed to treat pseudarthrosis in patients with NF1.-Ghadakzadeh, S., Kannu, P., Whetstone, H., Howard A

295 .56 to 19.5) for breast cancer in women with NF1 age < 40 years; the overall SMR for breast cancer wa

296 as intragenic-rearrangement hotspots within NF1.

297 ritical features of the ASD phenotype within NF1 have never been adequately explored.

298 of the patients with cancer with and without NF1 was compared.

299 of comparable patients with cancers without NF1 (54.0% v 67.5%; P = .01).

300 to 100%) when compared with patients without NF1 (42.0%; 95% CI, 29.1% to 60.7%; P = .012).