Neurofibromatosis type-1 and pregnancy: a review
Keywords:
neurofibromatosis, neurofibromatosis type-1, NF1, pregnancy.Abstract
Introduction: Neurofibromatosis type-1 (NF1) is an autosomal dominant tumor predisposition genetic disease, with diverse expression that can affect almost any organ system. Pregnancy among patients with NF1 is remarkably stated as at high risk of complications.
Purpose: To present a short and comprehensive review of the literature concerning the relation between pregnancy and NF1.
Materials and Methods: Articles identification through electronic databases was performed by using key terms: pregnancy, neurofibromatosis, neurofibromatosis type-1.
Pregnancy issues: Most of the relevant citations are edited to announce case reports or studies based on few patients’ samples. Since, authors in the past frequently delivered conflicting results, new retrospective studies, based on larger patient groups and matched with control groups, showed up over the last decade, to support that pregnancy in patients with NF1 is actually at high risk of complications.
Conclusions: Pregnancy in women with NF1 seems to be notably at higher risk of complications, especially hypertension/preeclampsia, IUGR, stillbirth, preterm labor, cesarean section and maternal tumor growth tendency aggravation. Despite, most authors strongly recommend close monitoring of these patients during pregnancy, a normal outcome seems to be more probable to occur.
References
Gutmann DH , Ferner RE , Listernick RH , Korf BR , Wolters PL , Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers 2017;3:17004
Anderson JL, Gutmann DH. Neurofibromatosis type 1. Handb Clin Neurol 2015;132:75-86.
Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999;89:1–6.
Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 19899;26: 704–711.
McKeever K, Shepherd CW, Crawford H, Morrison PJ. An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age. Ulster Med J 1989;77:160–163.
Gashi AM, Gjocaj C, Ismajli J, Gojnovci X. JKIMSU 2018;7(1):82-85,
Dugoff L, Sujansky E. Neurofibromatosis Type 1 and Pregnancy. Am J Med Genet 1996;66:7-10
Weissman A, Jakobi P, Zaidise I, Drugan A. Neurofibromatosis and pregnancy. An update. J Reprod Med 1993;38(11):890-896.
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(1):46.e1-8.
Sangwan N, Duhan N. Normal obstetric outcome in neurofibromatosis-1 complicating pregnancy. J Science 2008;20:197-198.
Yap YS, McPherson JR, Ong CK, et al. The NF1 gene revisited - from bench to bedside. Oncotarget 2014;5(15):5873-5892.
Theos A, Korf BR. Pathophysiology of neurofibromatosis type 1. Ann Intern Med 2006;144:842–849
Mavani G, Kesar V, Devita M, Rosenstock J, Michelis M, Schwimmer J. Neurofibromatosis type 1-associated hypertension secondary to coarctation of the thoracic aorta. Clin Kidney J 2014;7:394-395.
Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44(2):81-88.
Isakson SH, Rizzardi AE, Coutts AW, et al. Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. Commun Biol 2018;1:158.
Ruggieri M, Huson SM. The neurofibromatoses. An overview. Ital J Neurol Sci 1999;20:89–108
Zimmer A. Neurofibromatosis. Radiologe 2013;53:1077–1083
Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol 2009;61:1–14
Brems H, Beert E, de Ravel T, Legius E. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol 2009;10(5):508–515
Evans DGR, Kallionpää RA, Clementi M, et al. Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study. Genet Med 2020;22:398–406
Cesaretti C, Melloni G, Quagliarini D. Neurofibromatosis type 1 and pregnancy: maternal complications and attitudes about prenatal diagnosis. Am J Med Genet A 2013;161A:386–388
Roth TM, Ramamurthy P, Muir D, et al. Influence of hormones and hormone metabolites on the growth of Schwann cells derived from embryonic stem cells and on tumor cell lines expressing variable levels of neurofibromin. Dev Dyn 2008; 237:513-524.
Kitano Y, Okamoto E, Saito K, Okano Y. Effects of several growth factors on cultured neurofibroma cells. J Dermatol Sci 1992;3:137-144.
Isikoglu M, Has R, Korkmaz D, Bebek N. Plexiform neurofibroma during and after pregnancy. Arch Gynecol Obstet 2002;267:41–42.
Swapp GH, Main RA. Neurofibromatosis in pregnancy. Br J Dermatol 1973;80,431-435
Jarvis GJ, Crompton AC. Neurofibromatosis in pregnancy. Br J Obstet Gynecol 1978;85:844-847.
Hadi HA. Clinical significance of neurofibromatosis in pregnancy. Am J Perinatol 1995;12(6):459-461
Segal D, Holcberg G, Sapir O, Sheiner E, Mazor M, Katz M. Neurofibromatosis in pregnancy Maternal and perinatal outcome. Eur J Obstet Gynecol RB 1999;84:59–61.
Posma E, Aalbers R, Kurniawan YS, van Essen AJ, Peeters PMJG, van Loon AJ. Neurofibromatosis type I and pregnancy: a fatal attraction? BJOG 2003;110:530 – 532.
Kosec V, Márton I. Neurofibromatosis Type 1 in Pregnancy. Coll Antropol 2006;30(1):247–249.
Nelson D, Greer L, Wendel G. Neurofibromatosis and Pregnancy A Report of Maternal Cardiopulmonary Compromise Obstet Gynecol 2010;116:507–509
Islam S. Neurofibromatosis type 1 and pregnancy Arch Dis Child Fetal Neonatal Ed 2012;97:A70
Cecchi R, Frati P, Capri O, Cipolloni L. A Rare Case of Sudden Death Due to Hypotension during Cesarean Section in a Woman Suffering from Pheochromocytoma and Neurofibromatosis. J Forensic Sci 2013;58(6):1636-1639
Harshini V, Vidyashree JB, Renuka R. A pregnant woman with NF-1. EJBPS 2015:2(1):170-173.
Ramos-Zúñiga R, Saldaña-Koppel DA. Neurofibromatosis type 1 and pregnancy: The transformation of a nodular to cystic neurofibroma in the cervical region. Surg Neurol Int 2015;6:S487-489
Jain K, Sharma M, Mangal H. Neurofibromatosis in pregnancy: study of 2 cases. Jain K et al. Int J Reprod Contracept Obstet Gynecol 2015;4(2):483-485.
Xiong M, Gilchrest BA, Obayan OK. Eruptive neurofibromas in pregnancy. JAAD 2015;1(1):23–24.
Dahiya S, Mukherjee S, Premi HK. Neurofibromatosis in Pregnancy. Int J Adv Integr Med Sci 2016;1(2):91-92.
Remon-Ruiz P, Aliaga-Verdugo A, Guerrero-Vazquez R. Pheochromocytoma in neurofibromatosis type 1 during pregnancy Gynecol Endocrinol 2017;33(2):93-95.
Leppävirta J, Kallionpää RA, Uusitalo E, et al. The pregnancy in neurofibromatosis 1: A retrospective register-based total population study. Am J Med Genet A. 2017;173(10):2641-2648
Kalmantis K, Petsa A, Daskalakis G, et al. Neurofibromatosis-1 and pregnancy: Case report. HJOG 2018;17(2):35-40.
Well L, Jaeger A, Kehrer-Sawatzki H, et al. The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1. PLoS ONE 2020;15(4): e0232031.
Brickner SM. Fibroma moUuscutn gravidarutn. A new clinical entity. Am J Obstet Gynaecol 1906;53:191
Shapre JC, Yoting RH. von Recklinghausen's neorofibromatosis. Clinical manifestations in 31 cases. Arch Intern Med 1937;59:299
Moritz HC, Snider E. von Recklinghausen's disease exacerbated during pregnancy: case report. Harper Hospital Bulletin 1962;20:79
