Phacomatoses. Clarification of Genetic Origin in Neurofibromatosis Types 1 and 2 By Molecular-Genetic Diagnostics and Guidelines for the Appointment of Specific Treatment

Authors

  • R.K. Shiraliyeva Azerbaijan State Advanced Training Institute for Doctors named after A. Aliyev, Department of Neurology and Clinical Neurophysiology, Baku, Azerbaijan
  • A.K. Mammadbayli Azerbaijan Medical University, Department of Neurology, Baku, Azerbaijan
  • U.A. Asadova Azerbaijan State Advanced Training Institute for Doctors named after A. Aliyev, Department of Neurology and Clinical Neurophysiology, Baku, Azerbaijan

DOI:

https://doi.org/10.61788/njn.v2i24.11

Keywords:

phacomatosis, NF1, Recklinghausen neurofibromatosis, NF2, schwannomatosis, MGD

Abstract

The article provides information on the etiology and pathogenesis of phacomatoses, presents the classification, clinic and features of the course of their various forms. Details are given about such forms as NF1 (Recklinghausen neurofibromatosis) and NF2 (schwannomatosis). Due to the fact that somatic mosaicism somewhat complicates the work of molecular genetic diagnostics (MGD), the tissue allocated for testing should be selected correctly and laboratory methods with high sensitivity should be used.

References

Buçkova T.N., Zryaçkin N.İ., Çebotaryova Q.İ., Tixnenko O.V. Neyrofibromatoz tip 1 halı baş beyin astrositoması ilə pediatrın təcrübəsində // Vestnik Volq. M. 3-cü buraxılış (75), 2020. DOI 10.19163/1994-9480-2020-3(75)-138-144

Pleksiform neyrofibroma ilə pasientlərin diaqnoz və müalicə problemlərinə dair ekspert şurasının qətnaməsi // Rusiya uşaq hematologiyası və onkologiyası jurnalı. 2021, 8(2): 144-52.

Landry J.P., Schertz K.L., Chiang Y.J., Bhalla A.D., et al. Comparison of Cancer Prevalence in Patients With Neurofi bromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020 // JAMA Netw Open 2021;4(3): e210945. doi: 10.1001/jamanetworkopen.2021.0945.

Mahdi J., Shah A.C., Sato A., Morris S.M., et al. A multi-institutional study of brainstem gliomas in children with neurofi bromatosis type 1 // Neurology 2017;88(16):1584-9. doi: 10.1212/WNL.0000000000003881.

Uusitalo E., Kallionpää R.A., Kurki S., Rantanen M., et al. Breast cancer in neurofi bromatosis type 1: overrepresentation of unfavourable prognostic factors // Br J Cancer2017;116(2):211-7. doi: 10.1038/bjc.2016.403.

Miller D.T., Freedenberg D., Schorry E., Ullrich N.J., Viskochil D., Korf B.R., Council on Genetics; American College of Medical Genetics and Genomics. Health supervision for children with neurofi bromatosis type 1 // Pediatrics 2019;143(5): e20190660. doi: 10.1542/peds.2019-0660.

Nelson C.N., Dombi E., Rosenblum J.S., Miettinen M.M., et al. Safe marginal resection of atypical neurofi bromas in neurofi bromatosis type 1 // J Neurosurg 2019;1-11. doi: 10.3171/2019.7. JNS 191353.

Chamseddin B.H., Hernandez L.N., Solorzano D., Vega J., Le L.Q. Robust surgical approach for cutaneous neurofi broma in neurofi bromatosis type 1 // JCI Insight 2019;5(11): e128881. doi: 10.1172/jci.insight.128881

Bosch M.M., Boltshauser E., Harpes P., Landau K. Ophthalmologic findings and long-term course in patients with neurofi bromatosis type 2 // Am J Ophthalmol 2006;141(6):1068-77. doi: 10.1016/j.ajo.2005.12.042

Downloads

Published

31.12.2023

How to Cite

Shiraliyeva, R., Mammadbayli, A., & Asadova, U. (2023). Phacomatoses. Clarification of Genetic Origin in Neurofibromatosis Types 1 and 2 By Molecular-Genetic Diagnostics and Guidelines for the Appointment of Specific Treatment. National Journal of Neurology, 62–67. https://doi.org/10.61788/njn.v2i24.11

Issue

2023: No.2 (24)

Section

Help to the Practical Doctor

License

Copyright (c) 2026 National Association of Neurologists

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.