Research & Literature

Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors.

Salamon J, Mautner VF, Adam G, Derlin T

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin 2015; (187(12)):1084-92 doi:10.1055/s-0035-1553505.

In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients.

Parrozzani R, Clementi M, Frizziero L, et al.

Investigative ophthalmology & visual science 2015; (56(10)):6036-42 doi:10.1167/iovs.14-16053.

Neurofibromatosis type 1.

Anderson JL, Gutmann DH

Handbook of clinical neurology 2015; (132()):75-86.

Aberrant Myeloid Differentiation Contributes to the Development of Osteoporosis in Neurofibromatosis Type 1.

Rhodes SD, Yang FC

Current osteoporosis reports 2016; (14(1)):10-5 doi:10.1007/s11914-016-0298-z.

Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.

Ahlawat S, Fayad LM, Khan MS, et al.

Neurology 2016; (87(7 Suppl 1)):S31-9 doi:10.1212/WNL.0000000000002929.

Von recklinghausen disease: one patient - various problems.

Bergler-Czop B, Miziołek B, Brzezińska-Wcisło L

Balkan journal of medical genetics : BJMG 2016; (19(1)):95-102 doi:10.1515/bjmg-2016-0013.

Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.

Sohier P, Luscan A, Lloyd A, et al.

Genes, chromosomes & cancer 2017; (56(5)):421-426 doi:10.1002/gcc.22446.

Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1.

Trevisson E, Cassina M, Opocher E, et al.

Journal of neuro-oncology 2017; (134(2)):279-287 doi:10.1007/s11060-017-2517-6.

Cutaneous neurofibromas in the genomics era: current understanding and open questions.

Allaway RJ, Gosline SJC, La Rosa S, et al.

British journal of cancer 2018; (118(12)):1539-1548 doi:10.1038/s41416-018-0073-2.

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.

Xiao H, Yuan L, Xu H, et al.

Journal of molecular neuroscience : MN 2018; (65(4)):557-563 doi:10.1007/s12031-018-1128-9.

Was the internal thoracic arterial graft selection for coronary artery bypass grafting appropriate in a patient with neurofibromatosis-1?

Nakayama T, Nakayama M, Harada T, et al.

SAGE open medical case reports 2019; (7()):2050313X18818724 doi:10.1177/2050313X18818724.

Integrative Analysis Identifies Candidate Tumor Microenvironment and Intracellular Signaling Pathways that Define Tumor Heterogeneity in NF1.

Banerjee J, Allaway RJ, Taroni JN, et al.

Genes 2020; (11(2)) doi:10.3390/genes11020226.

Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.

Anastasaki C, Wegscheid ML, Hartigan K, et al.

Stem cell reports 2020; (14(4)):541-550 doi:10.1016/j.stemcr.2020.03.007.

The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1.

Well L, Jaeger A, Kehrer-Sawatzki H, et al.

PloS one 2020; (15(4)):e0232031 doi:10.1371/journal.pone.0232031.

Appendiceal neurofibroma and diverticula in a neurofibromatosis type 1 patient with chronic right lower quadrant pain.

Van de Steen K, Riedl R, Strypstein S, Boerma EJ

BMJ case reports 2020; (13(6)) doi:10.1136/bcr-2020-234383.

Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome.

Toledano-Alhadef H, Mautner VF, Gugel I, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(10)):2279-2284 doi:10.1007/s00381-020-04708-1.

Clinical characterization of children and adolescents with NF1 microdeletions.

Kehrer-Sawatzki H, Kluwe L, Salamon J, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(10)):2297-2310 doi:10.1007/s00381-020-04717-0.

Transition Readiness Assessment in Adolescents and Young Adults with Neurofibromatosis Type 1 (NF1).

Goetsch Weisman A, Haws T, Lee J, et al.

Comprehensive child and adolescent nursing 2023; (46(3)):223-239 doi:10.1080/24694193.2020.1806402.

Neurofibromatosis -1 diagnosed from an intraoral swelling - a case series.

Fahy E, Mulvihill C, O'Donoghue G, et al.

Australian dental journal 2021; (66(2)):205-211 doi:10.1111/adj.12797.

Clinical Pharmacokinetics and Pharmacodynamics of Selumetinib.

Campagne O, Yeo KK, Fangusaro J, Stewart CF

Clinical pharmacokinetics 2021; (60(3)):283-303 doi:10.1007/s40262-020-00967-y.

MEK inhibitors in RASopathies.

Bergqvist C, Wolkenstein P

Current opinion in oncology 2021; (33(2)):110-119 doi:10.1097/CCO.0000000000000711.

Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy.

García-Martínez FJ, Azorín D, Duat-Rodríguez A, Hernández-Martín Á

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2021; (19(1)):73-80 doi:10.1111/ddg.14322.

GIST associated with von recklinghausen disease: Report of two cases and review of literature.

Vargas Ávila AL, Jiménez Leyva A, Vargas Flores J, et al.

Annals of medicine and surgery (2012) 2021; (62()):365-368 doi:10.1016/j.amsu.2021.01.033.

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation.

Biayna J, Mazuelas H, Gel B, et al.

Scientific reports 2021; (11(1)):3661 doi:10.1038/s41598-021-83152-w.

A phase II trial of selumetinib in children with recurrent optic pathway and hypothalamic low-grade glioma without NF1: a Pediatric Brain Tumor Consortium study.

Fangusaro J, Onar-Thomas A, Poussaint TY, et al.

Neuro-oncology 2021; (23(10)):1777-1788 doi:10.1093/neuonc/noab047.

Spontaneous Hip Dislocation Complicating the Management of Malignant Peripheral Nerve Sheath Tumor Arising Within a Plexiform Neurofibroma.

Mrowczynski OD, Vasekar M, Fox E, et al.

Cureus 2021; (13(7)):e16320 doi:10.7759/cureus.16320.

Malignant Peripheral Nerve Sheath Tumor Presenting as Horner's Syndrome.

Azharudeen M, Selvaraj J, Pillai V, et al.

Cureus 2021; (13(9)):e18341 doi:10.7759/cureus.18341.

[Expert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition)].

National Multi-Center Treatment Collaboration Group For Neurofibromatosis Type , National Multi-Center Research Platform For Plastic And Reconstructive Surgery

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery 2021; (35(11)):1384-1395 doi:10.7507/1002-1892.202108065.

Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study.

Henning AM, Handrup MM, Kjeldsen SM, et al.

Orphanet journal of rare diseases 2021; (16(1)):489 doi:10.1186/s13023-021-02121-8.

Plexiform neurofibroma: shedding light on the investigational agents in clinical trials.

Acar S, Armstrong AE, Hirbe AC

Expert opinion on investigational drugs 2022; (31(1)):31-40 doi:10.1080/13543784.2022.2022120.

Orthopaedic manifestations of neurofibromatosis type 1: A case report.

Năstase F, Radaschin DS, Niculeț E, et al.

Experimental and therapeutic medicine 2022; (23(2)):135 doi:10.3892/etm.2021.11058.

Screening for Hereditary Pheochromocytoma in a Patient with Neurofibromatosis Type 1: A Case Report.

Ferreira Barros II, Manso F, Caldas E Silva AI, Silva Lopes Pereira MR

TouchREVIEWS in endocrinology 2021; (17(1)):79-82 doi:10.17925/EE.2021.17.1.79.

The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.

Kehrer-Sawatzki H, Bäzner U, Krämer J, et al.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2022; (20(3)):273-277 doi:10.1111/ddg.14707.

Current concepts of neurofibromatosis type 1: pathophysiology and treatment.

Choi J, An S, Lim SY

Archives of craniofacial surgery 2022; (23(1)):6-16 doi:10.7181/acfs.2022.00633.

Transition to adult care of young patients with neurofibromatosis type 1 and cognitive deficits: a single-centre study.

Lausdahl S, Handrup MM, Rubak SL, et al.

Orphanet journal of rare diseases 2022; (17(1)):208 doi:10.1186/s13023-022-02356-z.

Image-Based Differentiation of Benign and Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1.

Liu J, Huang JN, Wang MH, et al.

Frontiers in oncology 2022; (12()):898971 doi:10.3389/fonc.2022.898971.

Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit.

Solares I, Vinal D, Morales-Conejo M

Revista clinica espanola 2022; (222(8)):486-495 doi:10.1016/j.rceng.2022.02.007.

Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.

Ho WY, Farrelly E, Stevenson DA

American journal of medical genetics. Part A 2022; (188(9)):2584-2589 doi:10.1002/ajmg.a.62890.

MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.

de Blank PMK, Gross AM, Akshintala S, et al.

Neuro-oncology 2022; (24(11)):1845-1856 doi:10.1093/neuonc/noac165.

Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation.

Sayın Kocakap DB, Gündüz Ö, Özer L, Durak M

Balkan journal of medical genetics : BJMG 2021; (24(2)):99-102 doi:10.2478/bjmg-2021-0021.

[Translated article] Neurofibromatosis Type 1: Diagnostic Timelines in Children.

García-Martínez FJ, Hernández-Martín A

Actas dermo-sifiliograficas 2023; (114(3)):T187-T193 doi:10.1016/j.ad.2022.10.043.

Lymphomas in patients with neurofibromatosis type 1 (NF1): another malignancy in the NF1 syndrome?

Fareez F, Wang BH, Brain I, Lu JQ

Pathology 2023; (55(3)):302-314 doi:10.1016/j.pathol.2023.01.002.

Malignant Peripheral Nerve Sheath Tumors: Latest Concepts in Disease Pathogenesis and Clinical Management.

Yao C, Zhou H, Dong Y, et al.

Cancers 2023; (15(4)) doi:10.3390/cancers15041077.

Combining SOS1 and MEK Inhibitors in a Murine Model of Plexiform Neurofibroma Results in Tumor Shrinkage.

Jackson M, Ahmari N, Wu J, et al.

The Journal of pharmacology and experimental therapeutics 2023; (385(2)):106-116 doi:10.1124/jpet.122.001431.

Breast Cancer Screening Utilization and Outcomes in Women With Neurofibromatosis Type 1.

Yan K, Gao Y, Heller SL

Clinical breast cancer 2023; (23(4)):e200-e205 doi:10.1016/j.clbc.2023.02.005.

Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia.

de Rivas MO, Gabás JM, Cabeza MÁT, et al.

Diagnostics (Basel, Switzerland) 2023; (13(7)) doi:10.3390/diagnostics13071348.

Neurofibromatosis Type 1-Associated Optic Pathway Gliomas: Current Challenges and Future Prospects.

Tang Y, Gutmann DH

Cancer management and research 2023; (15()):667-681 doi:10.2147/CMAR.S362678.

Neurofibromatosis 1 (von Recklinghausen Disease).

Yoshida Y

The Keio journal of medicine 2025; (74(1)):37-41 doi:10.2302/kjm.2023-0013-IR.

An Isolated Case of Unilateral Macro-Ophthalmia With Resultant Anisometropic Amblyopia in Neurofibromatosis 1.

Mukit FA, Cape HT, Huq SS, Bohn S

Cureus 2023; (15(9)):e44679 doi:10.7759/cureus.44679.

Perceived transition readiness among adolescents and young adults with neurofibromatosis type 1 and plexiform neurofibromas: a cross-sectional descriptive study.

Siegel A, Lockridge R, Struemph KL, et al.

Journal of pediatric psychology 2024; (49(6)):383-391 doi:10.1093/jpepsy/jsae006.

Lambdoid Suture Defect in a 12-year-old Neurofibromatosis Patient.

Almahmood H, Al-Sayed S, Agab W

Cureus 2024; (16(2)):e54567 doi:10.7759/cureus.54567.

Malignant Transformation of Plexiform Neurofibroma Due to Neglected Giant Soft Tissue Swelling of the Back: A Case Report.

Bin Abdul Halim WMA, Bin Mat Hassan S, Bt Awang M, Abdullah MAH

Cureus 2024; (16(7)):e63807 doi:10.7759/cureus.63807.

Imaging findings of type I neurofibromatosis with outcome of malignant peripheral nerve sheath tumor in the right lower extremity.

Liu WH, Yang L, Wang XY, et al.

Journal of clinical ultrasound : JCU 2024; (52(9)):1450-1452 doi:10.1002/jcu.23807.

Nephrotic syndrome in a child with neurofibromatosis type 1: A case report and literature review.

Cheng B, Yang H, Huang L, et al.

Nephrology (Carlton, Vic.) 2024; (29(12)):973-976 doi:10.1111/nep.14393.

Spontaneous Tension Hemothorax in a Patient With Neurofibromatosis Type 1.

Koike Y, Kousen D, Kurinobu T, Shimizu K

Cureus 2024; (16(10)):e71486 doi:10.7759/cureus.71486.

Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors.

Schmalhofer ML, Farschtschi S, Kluwe L, et al.

Orphanet journal of rare diseases 2024; (19(1)):412 doi:10.1186/s13023-024-03420-6.

Cutaneous Toxicities of MEK Inhibitor Use in Children: A Comparison of Binimetinib and Selumetinib.

Needle CD, Yin L, Young TK, et al.

Pediatric dermatology 2025; (42(1)):67-72 doi:10.1111/pde.15792.

A single-center case study series assessing the effect of selumetinib use in patients with neurofibromatosis-related plexiform neurofibromas.

Passos J, Soares MP, Salgado D, et al.

Neuro-oncology advances 2024; (6(1)):vdae177 doi:10.1093/noajnl/vdae177.

Neurofibromatosis type 1 - an update.

Moodley M, Lopez KR

Seminars in pediatric neurology 2024; (52()):101172 doi:10.1016/j.spen.2024.101172.

Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.

Vienne-Jumeau A, Tilleul J, Tilleul-Hatwell V, et al.

Ophthalmic genetics 2025; (46(2)):186-191 doi:10.1080/13816810.2024.2440053.

Editorial: Understanding the Nature of Attention Problems in Neurofibromatosis Type 1: Clinical and Research Implications.

Vogel AC

Journal of the American Academy of Child and Adolescent Psychiatry 2025; (64(4)):419-420 doi:10.1016/j.jaac.2024.12.005.

Identification of the Determinants of Plexiform Neurofibroma Morbidity in Pediatric and Young Adult Neurofibromatosis Type 1 Patients: A Pilot Multivariate Approach.

de Brons B, Dhaenens B, van Minkelen R, Oostenbrink R

Cancers 2025; (17(1)) doi:10.3390/cancers17010123.

A rare unifocal gastric gastrointestinal stromal tumor in a young NF1 patient: A case report.

Gupta S, Ahuja S, Kalwaniya DS

International journal of surgery case reports 2025; (129()):111126 doi:10.1016/j.ijscr.2025.111126.

From benign neurofibromas to malignant peripheral nerve sheath tumors (MPNST): a gaming among multiple factors.

Yu Y, Wei C, Yue M, et al.

Cellular oncology (Dordrecht, Netherlands) 2025; (48(4)):841-857 doi:10.1007/s13402-025-01054-9.

Comprehensive approach of executive functions in children with neurofibromatosis type 1.

Remaud J, Guerra A, Beaussart-Corbat ML, et al.

Neuropsychology 2025; (39(4)):332-346 doi:10.1037/neu0000995.

Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker?

Santangelo A, Chelleri C, Tomasino M, et al.

Cancers 2025; (17(9)) doi:10.3390/cancers17091490.

Mirdametinib: First Approval.

Hoy SM

Drugs 2025; (85(7)):977-984 doi:10.1007/s40265-025-02190-0.

Impact of Optic Pathway Gliomas on Puberty and Growth in Neurofibromatosis Type 1: A 20-Year Experience From a Tertiary Center.

Haysom R, Chinoy A

Journal of child neurology 2025; (40(10)):882-888 doi:10.1177/08830738251341591.

A transcriptomic, proteomic, and functional genetic atlas dissects neurofibromin function in the peripheral nervous system.

Vasudevan HN, Arang N, Sacconi Nunez M, et al.

Proceedings of the National Academy of Sciences of the United States of America 2025; (122(27)):e2506823122 doi:10.1073/pnas.2506823122.

Targeted Therapies in Neurofibromatosis Type 1.

Sato AA, Earl D, Wallace SE

American journal of medical genetics. Part C, Seminars in medical genetics 2025; (199(3)):154-160 doi:10.1002/ajmg.c.32151.

A Retrospective Study of Diffuse Plexiform Neurofibroma With Surgical Intervention in Neurofibromatosis 1.

Koga M, Yoshinaga A, Ehara Y, et al.

The Journal of dermatology 2025; (52(10)):1589-1592 doi:10.1111/1346-8138.17888.

Mirdametinib: FDA approved MEK inhibitor for neurofibromatosis type 1.

Saara , Kamboj S, Rani D

Cancer chemotherapy and pharmacology 2025; (95(1)):101 doi:10.1007/s00280-025-04827-z.

Multidisciplinary Management of Plexiform Neurofibromas in Pediatric Patients With Neurofibromatosis 1: Insights From Advisory Board-Guided Clinical Experience in Japan.

Ehara Y, Okanishi T, Suyama Y, et al.

The Journal of dermatology 2026; (53(1)):135-139 doi:10.1111/1346-8138.70030.

Neurofibromatosis Type 1: Genetic Mechanisms and Advances in Therapeutic Innovation.

Lu Y, Xu M, Chen X, et al.

Cancers 2025; (17(23)) doi:10.3390/cancers17233788.

Mechanical Stiffening Promotes Growth, Invasion, and Mitogen-Activated Protein Kinase Kinase (MEK) Inhibitor Resistance in 3D Plexiform Neurofibroma Cultures.

Ji K, Shi C, Zhang J

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.01.26.701794.

Impaired Bone Healing and Fracture Complications during Limb Lengthening in a Neurofibromatosis Type 1 Patient Receiving Selumetinib: Case Report and Literature Review.

Safari Z, Tirta M, Rahbek O, Kold S

Journal of orthopaedic case reports 2026; (16(2)):221-227 doi:10.13107/jocr.2026.v16.i02.6810.