Neurofibromatosis Type 1: Review and Update on Emerging Therapies

Karaconji, Tanya; Whist, Eline; Jamieson, Robyn V; Flaherty, Maree; Grigg, John

doi:10.22608/apo.2018182

Cited by 24 publications

(12 citation statements)

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“…The natural progress and pathogenesis of bone abnormalities resulting from the altered function of the NF-1 gene are little known. Consequently, therapeutic options for these conditions are often limited, which explains the divergences adopted by orthopedists in relation to the conduct regarding our patient 13,14,15 .…”

Section: Discussionmentioning

confidence: 99%

Complicação óssea de um neurofibroma plexiforme – um relato de caso

Azulay¹,

Suchmacher²,

Lyra³

et al. 2021

Rev. Med. (São Paulo)

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A neurofibromatose tipo I é uma doença autossômica dominante cujo diagnóstico é feito com base em critérios clínicos. As três principais manifestações: neurofibromas, manchas café com leite e nódulos de Lisch ocorrem em mais de 90% dos pacientes até a puberdade. Relatamos o caso de uma paciente jovem com diagnóstico de neurofibromatose tipo I com complicações ortopédicas devido à elefantíase causada por um neurofibroma plexiforme.

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Section: Discussionmentioning

confidence: 99%

Complicação óssea de um neurofibroma plexiforme – um relato de caso

Azulay¹,

Suchmacher²,

Lyra³

et al. 2021

Rev. Med. (São Paulo)

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“…It is important to point out that only the Schwann cells are NF1 -/- , while other components within the microenvironment are NF1 +/- [ 85 ]. The development of NF1 and the subsequent reprogramming of Schwann cells have been extensively reviewed and are not the focus of this review [ 75 , 86 , 87 , 88 , 89 , 90 , 91 ]. Other NF1-associated tumours comprise plexiform neurofibromas (30–50%), optic pathway gliomas (15–20%), MPNST (10–15%), and others [ 73 , 92 ].…”

Section: The Neurofibromatosis Type 1 ( Nf1 ) Gene In Neoplasiamentioning

confidence: 99%

Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas

Scheer

Leisz

Sorge

et al. 2021

IJMS

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Neurofibromatosis type 1 (NF1) gene mutations or alterations occur within neurofibromatosis type 1 as well as in many different malignant tumours on the somatic level. In glioblastoma, NF1 loss of function plays a major role in inducing the mesenchymal (MES) subtype and, therefore defining the most aggressive glioblastoma. This is associated with an immune signature and mediated via the NF1–MAPK–FOSL1 axis. Specifically, increased invasion seems to be regulated via mutations in the leucine-rich domain (LRD) of the NF1 gene product neurofibromin. Novel targets for therapy may arise from neurofibromin deficiency-associated cellular mechanisms that are summarised in this review.

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“…Neurofibromatosis type 1 (NF-1) is a rare genetic disorder that affects 1 out of every 3000 live births. [ 1 ] NF-1 is an autosomal-dominant neurocutaneous disorder that affects the skin, bones, and nervous system. [ 1 , 2 ] Although kidney involvement is rare, it most commonly presents as renal artery stenosis, [ 3 , 4 ] which is reported in less than 1% of cases.…”

Section: Introductionmentioning

confidence: 99%

“…[ 1 ] NF-1 is an autosomal-dominant neurocutaneous disorder that affects the skin, bones, and nervous system. [ 1 , 2 ] Although kidney involvement is rare, it most commonly presents as renal artery stenosis, [ 3 , 4 ] which is reported in less than 1% of cases. [ 3 ] Glomerulonephritis is rare in NF-1 patients; only a few cases of membranous nephropathy [ 5 – 7 ] and focal segmental glomerulosclerosis, [ 8 – 10 ] and 3 of immunoglobulin A nephropathy (IgAN), [ 11 , 12 ] have been reported in NF-1 patients.…”

Section: Introductionmentioning

confidence: 99%

Immunoglobulin A nephropathy in a patient with neurofibromatosis type 1

et al. 2021

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Rationale: Neurofibromatosis type 1 (NF-1) is an autosomal-dominant neurocutaneous disorder that affects the skin, bones, and nervous system. The most common manifestation of kidney involvement is renal artery stenosis; glomerulonephritis is extremely rare. In this case report, we present a patient with NF-1 and immunoglobulin A nephropathy (IgAN). Patient concerns: A 51-year-old Korean man previously diagnosed with NF-1 presented with persistent proteinuria and hematuria identified during a routine medical check-up. He had no history of hypertension or diabetes, and denied a history of alcohol use or smoking. Diagnosis: The contrast-enhanced computed tomography scan revealed normal-sized kidneys and no evidence of renal artery stenosis. On the day of the kidney biopsy, laboratory tests showed a serum creatinine level of 1.1 mg/dL, urine protein/creatinine ratio of 1.3 g/g, and urine red blood cell count of >10 to 15/HPF. The kidney biopsy sample revealed IgAN grade III, according to Lee glomerular grading system. Intervention: The patient was advised to take 4 mg of perindopril. Outcome: Three months after the treatment, the urine protein/creatinine ratio decreased to 0.6 g/g, with no change in the serum creatinine level (1.03 mg/dL). Lessons: A genetic link between NF-1 and IgAN or other glomerular diseases is not established. However, activation of the mTOR pathway may explain this association.

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Neurofibromatosis Type 1: Review and Update on Emerging Therapies

Cited by 24 publications

References 0 publications

Complicação óssea de um neurofibroma plexiforme – um relato de caso

Complicação óssea de um neurofibroma plexiforme – um relato de caso

Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas

Immunoglobulin A nephropathy in a patient with neurofibromatosis type 1

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