Neurofibromatosis Type 1

1. Disease Information

1.1 Concise overview (current understanding)

NF1 is a common autosomal dominant, multisystem genetic condition caused by germline pathogenic variants in NF1, encoding neurofibromin, a negative regulator of Ras signaling (a Ras-GAP). Loss of neurofibromin drives hyperactive Ras pathway output and predisposes to benign peripheral nerve sheath tumors (cutaneous and plexiform neurofibromas) and malignant tumors (e.g., malignant peripheral nerve sheath tumor), as well as neurodevelopmental and skeletal manifestations. (peduto2023neurofibromatosistype1 pages 1-2, park2024recentadvancesin pages 1-2, na2024pastpresentand pages 1-3)

NF1 shows complete penetrance with marked inter- and intrafamilial variable expressivity and age-dependent emergence of manifestations, complicating early diagnosis in children. (peduto2023neurofibromatosistype1 pages 1-2)

1.2 Key identifiers and controlled vocabularies

A compact identifier/synonym table is provided below.

Table: This table summarizes key disease identifiers, inheritance, synonyms, and the most important related differential condition for Neurofibromatosis type 1. It is useful for knowledge-base normalization and for distinguishing NF1 from Legius syndrome in early or pigment-only presentations.

Important gap: ICD-10/ICD-11 codes, MeSH IDs, and Orphanet IDs were not present in the retrieved evidence corpus used by the tools in this run; therefore, they are not asserted here. The MONDO ID above is directly supported, and an OMIM/MIM number for the disease (162200) is supported by the 2023 prevalence/incidence meta-analysis. (lee2023incidenceandprevalence pages 1-2)

1.3 Synonyms and alternative names

Commonly used names include “neurofibromatosis 1” and “neurofibromatosis type I.” (park2024recentadvancesin pages 1-2, lee2023incidenceandprevalence pages 1-2)

2. Etiology

2.1 Disease causal factors

• Primary cause: Germline pathogenic variant in NF1 (tumor suppressor) (peduto2023neurofibromatosistype1 pages 1-2, park2024recentadvancesin pages 1-2).
• De novo rate: Approximately 50% of cases arise from de novo pathogenic variants. (peduto2023neurofibromatosistype1 pages 1-2)

2.2 Risk factors

• Genetic: Having an affected first-degree relative (autosomal dominant inheritance). (peduto2023neurofibromatosistype1 pages 1-2, legius2021reviseddiagnosticcriteria pages 2-3)
• Tumor-specific malignant risk factors (NF1 patients): The ERN GENTURIS guideline highlights groups at higher risk for MPNST, including NF1 microdeletion affecting SUZ12, missense variants at codons 844–848, prior ANNUBP, high internal tumor load/large or multiple plexiform neurofibromas, prior radiotherapy, and family history of MPNST. (carton2023erngenturistumour pages 9-10)
• Radiation exposure: For MPNST, prior therapeutic irradiation is a known risk factor and post-radiation MPNST has poor outcomes. (yao2023malignantperipheralnerve pages 2-4)

2.3 Protective factors

No specific protective genetic or environmental factors were identified in the retrieved sources.

2.4 Gene–environment interactions

The retrieved sources do not provide a clear gene–environment interaction model beyond the general observation that radiation exposure can increase risk for MPNST, especially in the context of NF1 tumor predisposition. (yao2023malignantperipheralnerve pages 2-4)

3. Phenotypes

3.1 Core clinical phenotype spectrum and frequencies (examples)

Key frequencies/statistics extracted from recent sources are summarized here and in a table artifact.

Table: This table compiles recent quantitative epidemiology and complication frequencies for neurofibromatosis type 1, emphasizing pooled 2023 estimates and clinically relevant tumor risks. It is useful as a compact evidence summary for disease knowledge base fields on prevalence, incidence, and phenotype burden.

Selected phenotype examples with HPO suggestions (not exhaustive):

1) Café-au-lait macules (CALMs) - Frequency: >95% of infants in one pediatric review (peduto2023neurofibromatosistype1 pages 1-2) - Typical onset: infancy/early childhood; increase until puberty (peduto2023neurofibromatosistype1 pages 2-4) - HPO: Café-au-lait spot (HP:0000957)

2) Axillary/inguinal freckling - Typical onset: around 6–7 years (peduto2023neurofibromatosistype1 pages 1-2) - HPO: Axillary freckling (HP:0000997); Inguinal freckling (HP:0000998)

3) Cutaneous neurofibromas - Frequency: ~90% of adults in pediatric review; guideline states >95% of people with NF1 have cutaneous neurofibromas (peduto2023neurofibromatosistype1 pages 1-2, carton2023erngenturistumour pages 10-12) - HPO: Neurofibroma (HP:0001067); Cutaneous neurofibroma (HP:0012872)

4) Plexiform neurofibromas (PN) - Frequency: ~40–60% (guideline) (carton2023erngenturistumour pages 10-12) - Morbidity: disfigurement, pain, neurologic/motor dysfunction; malignant transformation risk (gross2020selumetinibinchildren pages 1-2, carton2023erngenturistumour pages 10-12) - HPO: Plexiform neurofibroma (HP:0009732)

5) Ophthalmic findings: Lisch nodules and choroidal abnormalities - Lisch nodules: almost all adults, <50% under age 5 (peduto2023neurofibromatosistype1 pages 1-2) - Choroidal abnormalities in children: 60–70% (peduto2023neurofibromatosistype1 pages 2-4) - HPO: Lisch nodules (HP:0009737)

6) Optic pathway glioma (OPG) - Frequency: up to ~20% (“as many as one-fifth”) (tang2023neurofibromatosistype1associated pages 1-2) - Symptomatic fraction: ~20–30% develop symptoms (progressive vision loss, proptosis, diplopia, precocious puberty) (tang2023neurofibromatosistype1associated pages 1-2) - HPO: Optic pathway glioma (HP:0009735); Vision impairment (HP:0000505); Precocious puberty (HP:0000826)

7) Neurocognitive/behavioral features - One 2024 review states cognitive and behavioral disorders affect up to 80% of children with NF1 (park2024recentadvancesin pages 1-2) - HPO: Neurodevelopmental delay (HP:0012758); Learning difficulties (HP:0001328); Attention deficit hyperactivity disorder (HP:0007018) (where applicable)

3.2 Quality of life impact

Adult NF1 has substantial psychosocial burden, especially driven by visibility/disfigurement, stigma, pain, and uncertainty. In a 2023 systematic review of rare genetic skin diseases (including 16 NF1 studies), NF1 was associated with impaired QoL and emotional well-being; severity/visibility predicted QoL burden, and care at NF specialty clinics and genetic counseling were associated with higher self-esteem. (fournier2023psychosocialimplicationsof pages 13-15, fournier2023psychosocialimplicationsof pages 15-16)

4. Genetic / Molecular Information

4.1 Causal gene(s)

• NF1 (neurofibromin 1) is the causal gene for NF1; NF1 encodes neurofibromin, a Ras-GAP regulating Ras/MAPK output. (peduto2023neurofibromatosistype1 pages 1-2, na2024pastpresentand pages 1-3)

4.2 Variant spectrum and functional consequences

• Large variant diversity is reported; one 2024 review notes >3,197 constitutional NF1 pathogenic variants, with clinically confirmed genotype–phenotype correlations relevant to ~10–15% of patients, and microdeletions ~4.7–11%. (park2024recentadvancesin pages 1-2)
• A pediatric genotype–phenotype review reports that 90–95% of causative variants are intragenic and <10% are whole-gene deletions including flanking regions. (peduto2023neurofibromatosistype1 pages 11-13)
• Functional consequence is primarily loss of function in a tumor suppressor, with many NF1 tumors following a “second hit” model (somatic inactivation of the remaining allele). (na2024pastpresentand pages 1-3)

4.3 Modifier genes / related loci

The retrieved evidence emphasizes SPRED1 as a key differential diagnosis (Legius syndrome). Molecular testing for NF1 and SPRED1 is recommended when a child has only pigmentary findings, because Legius syndrome lacks NF1-associated oncologic risks. (peduto2023neurofibromatosistype1 pages 2-4)

4.4 Epigenetic information

In NF1-associated malignant transformation (MPNST), epigenetic regulators are important: PRC2 components (EED/SUZ12) may be inactivated, and loss of H3K27me3 is described as a marker more common in sporadic/radiation-induced MPNST (and mechanistically linked to PRC2 loss). (yao2023malignantperipheralnerve pages 13-14, yao2023malignantperipheralnerve pages 2-4)

5. Environmental Information

NF1 is primarily genetic. In the retrieved evidence, the main non-genetic contributor to malignant risk is radiation exposure (a risk factor for MPNST), and post-radiation MPNST shows particularly poor survival statistics in one review. (yao2023malignantperipheralnerve pages 2-4)

6. Mechanism / Pathophysiology

6.1 Core causal chain (from mutation to phenotype)

1. Germline NF1 pathogenic variant → reduced/absent neurofibromin.
2. Neurofibromin is a Ras-GAP that limits Ras signaling; one recent therapeutic-strategy review states neurofibromin “is a Ras GTPase-activating protein (RAS-GAP) that converts active GTP-bound Ras into inactive GDP-bound Ras,” and “Thus, NF1 loss leads to constitutive Ras activation.” (na2024pastpresentand pages 1-3)
3. Downstream Ras pathway hyperactivation increases output through RAF–MEK–ERK (MAPK) and other axes including PI3K–AKT–mTOR, with tumorigenesis typically requiring a second somatic hit in the remaining allele. (na2024pastpresentand pages 1-3)
4. Tumor microenvironment cells (e.g., fibroblasts/endothelial cells; immune components) can support tumor growth and are emerging therapeutic targets. (na2024pastpresentand pages 1-3)

Complementary mechanistic detail from a 2023 neurofibromin signaling review emphasizes broad pathway reach beyond MAPK, including cAMP/PKA, cytoskeletal signaling, and post-translational regulation of neurofibromin abundance. (baezflores2023thetherapeuticpotential pages 1-2, baezflores2023thetherapeuticpotential pages 3-4, baezflores2023thetherapeuticpotential pages 5-6)

6.2 Key pathways and suggested ontology terms

Pathways (examples): - Ras/MAPK cascade; RAF–MEK–ERK signaling (na2024pastpresentand pages 1-3, park2024recentadvancesin pages 1-2) - PI3K/AKT/mTOR signaling (na2024pastpresentand pages 1-3, park2024recentadvancesin pages 1-2, baezflores2023thetherapeuticpotential pages 5-6) - cAMP/PKA signaling and neurodevelopmental phenotypes (baezflores2023thetherapeuticpotential pages 3-4, baezflores2023thetherapeuticpotential pages 5-6) - Rho/ROCK/LIMK/cofilin; cytoskeletal remodeling (park2024recentadvancesin pages 1-2, baezflores2023thetherapeuticpotential pages 5-6)

GO Biological Process suggestions (examples): - Ras protein signal transduction (GO:0007265) - MAPK cascade (GO:0000165) - Regulation of cell proliferation (GO:0042127) - Regulation of apoptotic process (GO:0042981) - cAMP-mediated signaling (GO:0019933)

6.3 Cell types and suggested CL terms (examples)

Mechanistic and tumor discussions implicate: - Schwann cell lineage as tumor cell of origin for neurofibromas/MPNST (review emphasis) (na2024pastpresentand pages 5-6) - Optic glioma models implicate progenitor/oligodendrocyte-lineage tumor cells plus microglia and T cells in a supportive immune niche (tang2023neurofibromatosistype1associated pages 6-8)

CL term suggestions (examples): - Schwann cell (CL:0000218) - Microglial cell (CL:0000129) - T cell (CL:0000084) - Oligodendrocyte precursor cell (CL:0002453) (for OPG model context)

7. Anatomical Structures Affected

NF1 is multisystem; major affected anatomical systems include: - Skin/peripheral nerves: café-au-lait macules, freckling, cutaneous and plexiform neurofibromas (peduto2023neurofibromatosistype1 pages 1-2, carton2023erngenturistumour pages 10-12) - Central nervous system/visual system: optic pathway gliomas; non-optic low-grade gliomas (tang2023neurofibromatosistype1associated pages 1-2, carton2023erngenturistumour pages 9-10) - Skeletal system: distinctive osseous lesions used diagnostically (e.g., tibial bowing/pseudarthrosis; sphenoid dysplasia) (peduto2023neurofibromatosistype1 pages 2-4) - Breast tissue: elevated breast cancer risk prompting early MRI screening in guidelines (carton2023erngenturistumour pages 10-12, carton2023erngenturistumour pages 6-7)

UBERON suggestions (examples): - Skin (UBERON:0002097) - Peripheral nerve (UBERON:0001021) - Optic nerve (UBERON:0000966) - Brain (UBERON:0000955) - Tibia (UBERON:0001465) - Breast (UBERON:0000310)

8. Temporal Development (natural history)

• Onset: congenital/genetic; many visible pigmentary findings arise in infancy; other diagnostic features are age-dependent (peduto2023neurofibromatosistype1 pages 2-4, peduto2023neurofibromatosistype1 pages 1-2)
• Progression: variable; tumor-related complications may occur from childhood (e.g., OPG) through adulthood (e.g., MPNST) (carton2023erngenturistumour pages 5-6)

Examples of age-dependence: - Freckling tends to appear around age 6–7 (peduto2023neurofibromatosistype1 pages 1-2) - OPG is usually detected in early childhood, often before age 7 (tang2023neurofibromatosistype1associated pages 1-2) - MPNST typically presents between ages 20–40 (guideline) (carton2023erngenturistumour pages 10-12)

9. Inheritance and Population

9.1 Inheritance

• Autosomal dominant inheritance is consistently reported. (peduto2023neurofibromatosistype1 pages 1-2, lee2023incidenceandprevalence pages 1-2)
• Penetrance: described as complete in pediatric review, with wide expressivity. (peduto2023neurofibromatosistype1 pages 1-2)

9.2 Epidemiology (recent quantitative data)

A 2023 systematic review/meta-analysis estimated: - Pooled prevalence: ~1 in 3,164 (95% CI 1 in 2,132–1 in 4,712). (lee2023incidenceandprevalence pages 1-2) - Pooled birth incidence: ~1 in 2,662 (95% CI 1 in 1,968–1 in 3,601). (lee2023incidenceandprevalence pages 1-2) - Under-recognition: prevalence was higher in screening studies (~1 in 2,020) than in medical-record ascertainment (~1 in 4,329), suggesting under-recognition in routine data. (lee2023incidenceandprevalence pages 2-4, lee2023incidenceandprevalence pages 1-2)

10. Diagnostics

10.1 Clinical diagnostic criteria (2021 revised international consensus)

The 2021 international consensus provides revised NF1 criteria incorporating genetic testing and new ophthalmic imaging features; core requirements are summarized below.

Table: This table summarizes the 2021 international consensus diagnostic criteria for neurofibromatosis type 1, including the different threshold for individuals with and without an affected parent. It also briefly distinguishes Legius syndrome, an important overlapping condition in children with pigmentary findings.

Visual primary-source evidence: Table images of the revised diagnostic criteria were retrieved from the consensus publication (legius2021reviseddiagnosticcriteria media 67536eac, legius2021reviseddiagnosticcriteria media 57806d8a).

10.2 Genetic testing approach

The revised criteria explicitly allow diagnosis via identification of a heterozygous pathogenic NF1 variant (~50% variant allele fraction in normal tissue) as one diagnostic feature, supporting molecular diagnosis especially in young children or atypical cases. (peduto2023neurofibromatosistype1 pages 2-4, legius2021reviseddiagnosticcriteria pages 2-3)

10.3 Imaging / biomarkers

• Plexiform neurofibroma trials use volumetric MRI and REiNS criteria to define response (≥20% volume reduction). (gross2023longtermsafetyand pages 1-2, gross2020selumetinibinchildren pages 1-2)
• For OPG monitoring, OCT measures (RNFL/GCL) and VEP are discussed; VEP is reported to have ~90% sensitivity for detecting presence of an OPG (with specificity limitations), and OCT thinning can precede measurable vision loss. (tang2023neurofibromatosistype1associated pages 4-6)

10.4 Differential diagnosis

A critical differential in pigment-only presentations is Legius syndrome (SPRED1), which overlaps with café-au-lait macules ± freckling but lacks NF1 tumor risks; molecular analysis of NF1 and SPRED1 is recommended in such cases. (peduto2023neurofibromatosistype1 pages 2-4)

11. Outcome / Prognosis

11.1 Cancer burden

ERN GENTURIS reports markedly increased cancer burden: lifetime cancer risk 59.6% in NF1 vs 30.8% in the general population. (carton2023erngenturistumour pages 1-2)

11.2 MPNST prognosis

A 2023 MPNST clinical management review reports overall poor outcomes with a 5-year overall survival ~50–60% and median survival about 6 years, noting NF1-associated cases have worse survival than sporadic tumors. (yao2023malignantperipheralnerve pages 11-13)

11.3 Quality of life / psychosocial outcomes

A 2023 systematic review synthesizing adult NF1 studies (n≈1,180 across 16 studies) highlights stigma, anxiety/depression, and functional limitations. It reports that severity and visibility predict poorer QoL, and that self-esteem was higher in those receiving care at NF clinics or genetic counseling. (fournier2023psychosocialimplicationsof pages 13-15, fournier2023psychosocialimplicationsof pages 15-16)

12. Treatment

12.1 Pharmacotherapy and targeted therapy (plexiform neurofibromas)

The treatment landscape for symptomatic, inoperable NF1 plexiform neurofibromas has been transformed by MEK inhibition.

Table: This table summarizes the pivotal selumetinib evidence base for NF1-associated plexiform neurofibromas, including the landmark pediatric trials, FDA approval, and 2024 adverse-event management guidance. It is useful for quickly linking efficacy, real-world implementation, and safety monitoring considerations.

Key primary-trial efficacy highlights: - In the pivotal pediatric phase 2 trial, confirmed partial response occurred in 70% (35/50) with many durable responses; pain and QoL improved meaningfully. (gross2020selumetinibinchildren pages 1-2) - Long-term follow-up (up to ~5 additional years) maintained 70% confirmed partial response in a larger cohort (52/74) with durable pain improvements and no new safety signals, but ongoing monitoring is required because known adverse events may appear later. (gross2023longtermsafetyand pages 1-2)

12.2 Treatment adverse events and real-world implementation guidance (2024)

A 2024 European expert panel (modified Delphi) produced consensus recommendations for prevention and management of selumetinib-associated adverse events and reported clinically relevant AE frequencies (e.g., vomiting 86%, diarrhea 81%, elevated CPK 77%, decreased LVEF 28%). (azizi2024consensusrecommendationson pages 1-2)

12.3 Surgical and interventional care

Surgery remains important for selected tumors/lesions (e.g., resectable ANNUBP, certain symptomatic gliomas), but is often limited by tumor location and morbidity. For MPNST, ERN GENTURIS states there is no place for watchful waiting and recommends urgent resection when feasible. (carton2023erngenturistumour pages 9-10, carton2023erngenturistumour pages 10-12)

12.4 Ongoing and recent clinical trials (real-world pipeline)

Examples of MEK inhibitor trials and post-authorization studies: - NCT01362803: Selumetinib (AZD6244) Phase I/II in children with NF1 PN; ACTIVE_NOT_RECRUITING. (NCT01362803 chunk 1) - NCT03962543 (ReNeu): Mirdametinib Phase 2b single-group in adults and children with inoperable symptomatic NF1 PN; ACTIVE_NOT_RECRUITING; primary completion 2023-09-20. (NCT03962543 chunk 1) - NCT05388370: Selumetinib post-authorisation safety study (PASS) prospective cohort; ACTIVE_NOT_RECRUITING; follow-up to 2028; monitoring includes LVEF reduction, physeal dysplasia, ocular toxicity, pubertal development. (NCT05388370 chunk 1) - NCT03231306: Binimetinib Phase II in children and adults with NF1 PN; COMPLETED with completion date 2024-04-17. (NCT03231306 chunk 1)

MAXO suggestions (examples): - MEK inhibitor therapy (MAXO term suggestion; no MAXO ID provided in retrieved evidence) - MRI surveillance (MAXO suggestion) - Genetic counseling (MAXO suggestion; supported as beneficial for self-esteem in adult NF1 systematic review) (fournier2023psychosocialimplicationsof pages 13-15)

13. Prevention

Primary prevention is not currently available for a germline genetic disorder, but secondary/tertiary prevention via surveillance is central.

ERN GENTURIS (2023) provides age-stratified surveillance recommendations, including: - Regular clinical assessments (at least annually in young children), - Ophthalmologic surveillance for OPG with OCT when feasible, - Imaging strategies for internal tumor burden at transition to adulthood (e.g., WB-MRI at least once), - Breast cancer screening: annual MRI starting as soon after age 30 as feasible until 50. (carton2023erngenturistumour pages 6-7, carton2023erngenturistumour pages 7-8)

14. Other Species / Natural Disease

The retrieved sources did not include naturally occurring NF1 disease descriptions in non-human species.

15. Model Organisms

NF1 optic pathway glioma research frequently uses genetically engineered mouse models. These models provide mechanistic insight into gliomagenesis, retinal ganglion cell injury, and the role of immune/microenvironmental cells (microglia and T cells) and neuronal activity factors in tumor initiation and progression. (tang2023neurofibromatosistype1associated pages 1-2, tang2023neurofibromatosistype1associated pages 6-8)

Recent developments and expert analysis (2023–2024 highlights)

• Epidemiology refresh (2023): Updated pooled prevalence/incidence with evidence of under-recognition in routine medical records vs screening. (lee2023incidenceandprevalence pages 2-4, lee2023incidenceandprevalence pages 1-2)
• Practice-changing implementation support (2024): Consensus adverse-event management for selumetinib in pediatric NF1 PN to facilitate safer long-term use outside trials. (azizi2024consensusrecommendationson pages 1-2)
• Therapeutic strategy evolution (2024): Expert synthesis emphasizes that while MEK inhibition has succeeded for PNs and some low-grade gliomas, monotherapy is insufficient for aggressive tumors (e.g., MPNST), motivating combination and microenvironment-targeting approaches. (na2024pastpresentand pages 1-3)

Notes on PMID availability

Within the retrieved full-text excerpts, PMIDs were not consistently provided, so PMID-level indexing could not be verified for every citation in this tool run. All major claims are instead linked to specific retrieved documents via the provided context IDs and include DOIs/URLs and publication months/years as available.

References

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8. (tang2023neurofibromatosistype1associated pages 1-2): Yunshuo Tang and David H Gutmann. Neurofibromatosis type 1-associated optic pathway gliomas: current challenges and future prospects. Cancer Management and Research, 15:667-681, Jul 2023. URL: https://doi.org/10.2147/cmar.s362678, doi:10.2147/cmar.s362678. This article has 36 citations and is from a peer-reviewed journal.

9. (na2024pastpresentand pages 1-3): Brian Na, Shilp R. Shah, and Harish N. Vasudevan. Past, present, and future therapeutic strategies for nf-1-associated tumors. Current Oncology Reports, 26:706-713, May 2024. URL: https://doi.org/10.1007/s11912-024-01527-4, doi:10.1007/s11912-024-01527-4. This article has 20 citations and is from a peer-reviewed journal.

10. (legius2021reviseddiagnosticcriteria pages 1-2): Eric Legius, Ludwine Messiaen, Pierre Wolkenstein, Patrice Pancza, Robert A. Avery, Yemima Berman, Jaishri Blakeley, Dusica Babovic-Vuksanovic, Karin Soares Cunha, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, David H. Gutmann, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Sirkku Peltonen, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Anat Stemmer-Rachamimov, David A. Stevenson, Gianluca Tadini, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Alicia Gomes, Justin T. Jordan, Victor Mautner, Vanessa L. Merker, Miriam J. Smith, David Stevenson, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Marco Giovannini, Dorothy Halliday, Chris Hammond, C.O. Hanemann, Helen Hanson, Arvid Heiberg, Pascal Joly, Michel Kalamarides, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Mia MacCollin, Conor Mallucci, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Laura Papi, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh, Susan M. Huson, D. Gareth Evans, and Scott R. Plotkin. Revised diagnostic criteria for neurofibromatosis type 1 and legius syndrome: an international consensus recommendation. Genetics in Medicine, 23:1506-1513, Aug 2021. URL: https://doi.org/10.1038/s41436-021-01170-5, doi:10.1038/s41436-021-01170-5. This article has 888 citations and is from a highest quality peer-reviewed journal.

11. (peduto2023neurofibromatosistype1 pages 2-4): Cristina Peduto, Mariateresa Zanobio, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso, and Claudia Santoro. Neurofibromatosis type 1: pediatric aspects and review of genotype–phenotype correlations. Cancers, 15:1217, Feb 2023. URL: https://doi.org/10.3390/cancers15041217, doi:10.3390/cancers15041217. This article has 80 citations.

12. (carton2023erngenturistumour pages 9-10): Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink, Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R. Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, and Anja Wagner. Ern genturis tumour surveillance guidelines for individuals with neurofibromatosis type 1. eClinicalMedicine, 56:101818, Feb 2023. URL: https://doi.org/10.1016/j.eclinm.2022.101818, doi:10.1016/j.eclinm.2022.101818. This article has 129 citations and is from a peer-reviewed journal.

13. (yao2023malignantperipheralnerve pages 2-4): Chengjun Yao, Haiying Zhou, Yanzhao Dong, Ahmad Alhaskawi, Sohaib Hasan Abdullah Ezzi, Zewei Wang, Jingtian Lai, Vishnu Goutham Kota, Mohamed Hasan Abdulla Hasan Abdulla, and Hui Lu. Malignant peripheral nerve sheath tumors: latest concepts in disease pathogenesis and clinical management. Cancers, 15:1077, Feb 2023. URL: https://doi.org/10.3390/cancers15041077, doi:10.3390/cancers15041077. This article has 118 citations.

14. (lee2023incidenceandprevalence pages 4-7): Tin-Suet Joan Lee, Meera Chopra, Raymond H. Kim, Patricia C. Parkin, and Carolina Barnett-Tapia. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet Journal of Rare Diseases, Sep 2023. URL: https://doi.org/10.1186/s13023-023-02911-2, doi:10.1186/s13023-023-02911-2. This article has 154 citations and is from a peer-reviewed journal.

15. (carton2023erngenturistumour pages 10-12): Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink, Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R. Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, and Anja Wagner. Ern genturis tumour surveillance guidelines for individuals with neurofibromatosis type 1. eClinicalMedicine, 56:101818, Feb 2023. URL: https://doi.org/10.1016/j.eclinm.2022.101818, doi:10.1016/j.eclinm.2022.101818. This article has 129 citations and is from a peer-reviewed journal.

16. (suppiah2023multiplatformmolecularprofiling pages 1-2): Suganth Suppiah, Sheila Mansouri, Yasin Mamatjan, Jeffrey C. Liu, Minu M. Bhunia, Vikas Patil, Prisni Rath, Bharati Mehani, Pardeep Heir, Severa Bunda, German L. Velez-Reyes, Olivia Singh, Nazanin Ijad, Neda Pirouzmand, Tatyana Dalcourt, Ying Meng, Shirin Karimi, Qingxia Wei, Farshad Nassiri, Trevor J. Pugh, Gary D. Bader, Kenneth D. Aldape, David A. Largaespada, and Gelareh Zadeh. Multiplatform molecular profiling uncovers two subgroups of malignant peripheral nerve sheath tumors with distinct therapeutic vulnerabilities. Nature Communications, May 2023. URL: https://doi.org/10.1038/s41467-023-38432-6, doi:10.1038/s41467-023-38432-6. This article has 49 citations and is from a highest quality peer-reviewed journal.

17. (fournier2023psychosocialimplicationsof pages 13-15): Hugo Fournier, Nicolas Calcagni, Fanny Morice-Picard, and Bruno Quintard. Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review. Orphanet Journal of Rare Diseases, Feb 2023. URL: https://doi.org/10.1186/s13023-023-02629-1, doi:10.1186/s13023-023-02629-1. This article has 57 citations and is from a peer-reviewed journal.

18. (fournier2023psychosocialimplicationsof pages 15-16): Hugo Fournier, Nicolas Calcagni, Fanny Morice-Picard, and Bruno Quintard. Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review. Orphanet Journal of Rare Diseases, Feb 2023. URL: https://doi.org/10.1186/s13023-023-02629-1, doi:10.1186/s13023-023-02629-1. This article has 57 citations and is from a peer-reviewed journal.

19. (peduto2023neurofibromatosistype1 pages 11-13): Cristina Peduto, Mariateresa Zanobio, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso, and Claudia Santoro. Neurofibromatosis type 1: pediatric aspects and review of genotype–phenotype correlations. Cancers, 15:1217, Feb 2023. URL: https://doi.org/10.3390/cancers15041217, doi:10.3390/cancers15041217. This article has 80 citations.

20. (yao2023malignantperipheralnerve pages 13-14): Chengjun Yao, Haiying Zhou, Yanzhao Dong, Ahmad Alhaskawi, Sohaib Hasan Abdullah Ezzi, Zewei Wang, Jingtian Lai, Vishnu Goutham Kota, Mohamed Hasan Abdulla Hasan Abdulla, and Hui Lu. Malignant peripheral nerve sheath tumors: latest concepts in disease pathogenesis and clinical management. Cancers, 15:1077, Feb 2023. URL: https://doi.org/10.3390/cancers15041077, doi:10.3390/cancers15041077. This article has 118 citations.

21. (baezflores2023thetherapeuticpotential pages 1-2): Juan Báez-Flores, Mario Rodríguez-Martín, and Jesus Lacal. The therapeutic potential of neurofibromin signaling pathways and binding partners. Communications Biology, Apr 2023. URL: https://doi.org/10.1038/s42003-023-04815-0, doi:10.1038/s42003-023-04815-0. This article has 47 citations and is from a peer-reviewed journal.

22. (baezflores2023thetherapeuticpotential pages 3-4): Juan Báez-Flores, Mario Rodríguez-Martín, and Jesus Lacal. The therapeutic potential of neurofibromin signaling pathways and binding partners. Communications Biology, Apr 2023. URL: https://doi.org/10.1038/s42003-023-04815-0, doi:10.1038/s42003-023-04815-0. This article has 47 citations and is from a peer-reviewed journal.

23. (baezflores2023thetherapeuticpotential pages 5-6): Juan Báez-Flores, Mario Rodríguez-Martín, and Jesus Lacal. The therapeutic potential of neurofibromin signaling pathways and binding partners. Communications Biology, Apr 2023. URL: https://doi.org/10.1038/s42003-023-04815-0, doi:10.1038/s42003-023-04815-0. This article has 47 citations and is from a peer-reviewed journal.

24. (na2024pastpresentand pages 5-6): Brian Na, Shilp R. Shah, and Harish N. Vasudevan. Past, present, and future therapeutic strategies for nf-1-associated tumors. Current Oncology Reports, 26:706-713, May 2024. URL: https://doi.org/10.1007/s11912-024-01527-4, doi:10.1007/s11912-024-01527-4. This article has 20 citations and is from a peer-reviewed journal.

25. (tang2023neurofibromatosistype1associated pages 6-8): Yunshuo Tang and David H Gutmann. Neurofibromatosis type 1-associated optic pathway gliomas: current challenges and future prospects. Cancer Management and Research, 15:667-681, Jul 2023. URL: https://doi.org/10.2147/cmar.s362678, doi:10.2147/cmar.s362678. This article has 36 citations and is from a peer-reviewed journal.

26. (carton2023erngenturistumour pages 6-7): Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink, Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R. Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, and Anja Wagner. Ern genturis tumour surveillance guidelines for individuals with neurofibromatosis type 1. eClinicalMedicine, 56:101818, Feb 2023. URL: https://doi.org/10.1016/j.eclinm.2022.101818, doi:10.1016/j.eclinm.2022.101818. This article has 129 citations and is from a peer-reviewed journal.

27. (carton2023erngenturistumour pages 5-6): Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink, Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R. Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, and Anja Wagner. Ern genturis tumour surveillance guidelines for individuals with neurofibromatosis type 1. eClinicalMedicine, 56:101818, Feb 2023. URL: https://doi.org/10.1016/j.eclinm.2022.101818, doi:10.1016/j.eclinm.2022.101818. This article has 129 citations and is from a peer-reviewed journal.

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32. (yao2023malignantperipheralnerve pages 11-13): Chengjun Yao, Haiying Zhou, Yanzhao Dong, Ahmad Alhaskawi, Sohaib Hasan Abdullah Ezzi, Zewei Wang, Jingtian Lai, Vishnu Goutham Kota, Mohamed Hasan Abdulla Hasan Abdulla, and Hui Lu. Malignant peripheral nerve sheath tumors: latest concepts in disease pathogenesis and clinical management. Cancers, 15:1077, Feb 2023. URL: https://doi.org/10.3390/cancers15041077, doi:10.3390/cancers15041077. This article has 118 citations.

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39. (carton2023erngenturistumour pages 7-8): Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink, Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R. Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, and Anja Wagner. Ern genturis tumour surveillance guidelines for individuals with neurofibromatosis type 1. eClinicalMedicine, 56:101818, Feb 2023. URL: https://doi.org/10.1016/j.eclinm.2022.101818, doi:10.1016/j.eclinm.2022.101818. This article has 129 citations and is from a peer-reviewed journal.