Bilir RA, KARAALP İL, Karateke A. Neurofibromatosis and pregnancy. J Clin Obstet Gynecol. 2020;30:153–6.
Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Méd Genet. 1996;66:7–10.
Article PubMed CAS Google Scholar
Kim T-K, Park Y-S, Nakagawa I. Clinical and genetic overview of neurofibromatosis type 2 (NF2). J Korean Neurosurg Soc. 2025;68:272–7.
Article PubMed PubMed Central Google Scholar
Kim B-H, Chung Y-H, Woo T-G, Kang S, Park S, Kim M, et al. NF2-Related schwannomatosis (NF2): molecular insights and therapeutic avenues. Int J Mol Sci. 2024;25:6558.
Article PubMed PubMed Central CAS Google Scholar
Nastac A, Panaitescu AM, Huluță I, Gică N, Gorecki G-P, Botezatu R, et al. Maternal and fetal complications in pregnant women with neurofibromatosis type 1: literature review and two case reports. J Clin Med. 2025;14:451.
Article PubMed PubMed Central CAS Google Scholar
Hassel JC, Livingstone E, Allam JP, Behre HM, Bojunga J, Klein HH, et al. Fertility preservation and management of pregnancy in melanoma patients requiring systemic therapy. ESMO Open. 2021;6:100248.
Article PubMed PubMed Central CAS Google Scholar
Dahiya S, Mukherjee S, Premi H. Neurofibromatosis in pregnancy. Int J Adv Integr Méd Sci. 2016;1:91–2.
Terry AR, Barker FG, Leffert L, Bateman BT, Souter I, Plotkin SR. Neurofibromatosis type 1 and pregnancy complications: a population-based study. Am J Obstet Gynecol. 2013;209:e461–8.
Anastasaki C, Orozco P, Gutmann DH. RAS and beyond: the many faces of the neurofibromatosis type 1 protein. Dis Model Mech. 2022;15:dmm049362.
Article PubMed PubMed Central CAS Google Scholar
Vernimmen V, Paulussen ADC, Dreesen JCFM, van Golde RJ, Esteki MZ, Coonen E, et al. Preimplantation genetic testing for neurofibromatosis type 1: more than 20 years of clinical experience. Eur J Hum Genet. 2023;31:918–24.
Article PubMed PubMed Central Google Scholar
Pacot L, Vidaud D, Ye M, Chansavang A, Coustier A, Maillard T, et al. Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics. Npj Genom Med. 2024;9:41.
Article PubMed PubMed Central CAS Google Scholar
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23:1506–13.
Article PubMed PubMed Central Google Scholar
Bettegowda C, Upadhayaya M, Evans DG, Kim A, Mathios D, Hanemann CO, et al. Genotype-Phenotype correlations in neurofibromatosis and their potential clinical use. Neurology. 2021;97:S91–8.
Article PubMed PubMed Central CAS Google Scholar
Friedman JM. Neurofibromatosis 1. GeneReviews. 2025.
Idler J, Turkoglu O, Patek K, Stuart S, Taskin B, Sivaswamy L, et al. Neurocutaneous disorders in pregnancy. Obstet Gynecol Surv. 2023;78:606–19.
Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American college of medical genetics and genomics (ACMG). Genet Med. 2018;20:671–82.
Akbarzadeh MA, Vaez-Gharamaleki Y, Hosseini M-S. Mirdametinib approval for neurofibromatosis type 1 with inoperable plexiform neurofibromas: the journey of MEK inhibitors. ESMO Rare Cancers. 2025;100015.
Terry AR, Merker VL, Barker FG, Leffert L, Bateman BT, Souter I, et al. Pregnancy complications in women with rare tumor suppressor syndromes affecting central and peripheral nervous system. Am J Obstet Gynecol. 2015;213:108–9.
Leppävirta J, Kallionpää RA, Uusitalo E, Vahlberg T, Pöyhönen M, Timonen S, et al. The pregnancy in neurofibromatosis 1: A retrospective register-based total population study. Am J Méd Genet Part A. 2017;173:2641–8.
Kenborg L, Boschini C, Bidstrup PE, Dalton SO, Doser K, Nielsen TT, et al. Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study. J Méd Genet. 2022;59:237–42.
Kitamoto M, Narumi M, Oda T, Tamura N, Uchida T, Itoh H. Pregnancy complicated by neurofibromatosis type 1 in a patient with a history of massive spontaneous hemothorax: a case report. Hypertens Res Pregnancy. 2022;10:121–4.
McEwing RL, Joelle R, Mohlo M, Bernard J, Hillion Y, Ville Y. Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings. Prenat Diagn. 2006;26:1110–4.
Dagalakis U, Lodish M, Dombi E, Sinaii N, Sabo J, Baldwin A, et al. Puberty and plexiform neurofibroma tumor growth in patients with neurofibromatosis type I. J Pediatr. 2014;164:620–4.
Article PubMed CAS Google Scholar
Geller M, Mezitis SGE, Nunes FP, Ribeiro MG, Araújo AP, de Bronstein QC. MD, Progesterone and Estrogen receptors in neurofibromas of patients with NF1. Clin Med Insights: Pathol. 2008;1:CPath.S1002.
Kallionpää RA, Määttänen J, Leppävirta J, Peltonen S, Peltonen J. Pregnancy and the risk for cancer in neurofibromatosis 1. Genes. Chromosom Cancer. 2025;64:e70017.
Mitra P, Pradhan A, Ghosh S, Chaudhary K. Neurofibromatosis in pregnancy: the pitfalls. Int J Clin Obstet Gynaecol. 2025;9:91–3.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation. Genet Med. 2022;24:1967–77.
Article PubMed CAS Google Scholar
Forde C, King AT, Rutherford SA, Hammerbeck-Ward C, Lloyd SK, Freeman SR, et al. Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution. Neuro-Oncol. 2020;23:1113–24.
Article PubMed Central Google Scholar
Evans DgR. Neurofibromatosis type 2 (NF2): A clinical and molecular review. Orphanet J Rare Dis. 2009;4:16.
Brown CM, Ahmad ZK, Ryan AF, Doherty JK. Estrogen receptor expression in sporadic vestibular schwannomas. Otol Neurotol. 2011;32:158–62.
Article PubMed PubMed Central Google Scholar
Beatty CW, Scheithauer BW, Katzmann JA, Roche PC, Kjeldahl KS, Ebersold MJ. Acoustic Schwannoma and pregnancy: A DNA flow cytometric, steroid hormone receptor, and proliferation marker study. Laryngoscope. 1995;105:693–700.
Article PubMed CAS Google Scholar
Morris KA, Golding JF, Axon PR, Afridi S, Blesing C, Ferner RE, et al. Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation. Neuro-Oncol Pr. 2016;3:281–9.
Spiegel JE, Hapgood A, Hess PE. Epidural anesthesia in a parturient with neurofibromatosis type 2 undergoing Cesarean section. Int J Obstet Anesth. 2005;14:336–9.
Comments (0)