Neurofibromatoses: pathomorphological and clinical polymorphism, efficacy of targeted therapy
https://doi.org/10.31146/2949-4664-apps-2-1-196-207
Abstract
Neurofibromatoses are a group of inherited monogenic diseases with variable expression, characterized by the development of multiple tumors in tissues of neuroectodermal origin. Despite the similarity of phenotypic manifestations, each form differs in the spectrum of clinical manifestations, onset age of the first symptoms, severity of course, and approaches to treatment, the results of which are reflected in the prognosis and patients’ quality of life. The article analyzes the data from domestic and foreign studies on various forms of neurofibromatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations, as well as treatment, including the example of 2 own clinical observations are discussed in this article.
About the Authors
Zh. M. Tsotsonava
Astrakhan State Medical University
Russian Federation
Russian Federation
N. V. Tkacheva
Astrakhan State Medical University
Russian Federation
Russian Federation
S. . Gasanova
Astrakhan State Medical University
Russian Federation
Russian Federation
A. . Dzeitova
Astrakhan State Medical University
Russian Federation
Russian Federation
References
1. Le C, Bedocs PM. Neurofibromatosis. 2023 Jan 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. PMID: 29083784.
2. Makashova E.S., Zolotova S. V., Kostyuchenko V. V., Galkin M. V., Ginzberg M. A.et al. Neurofibromatosis 2: new perspectives in treatment (case report).Russian journal of neurosurgery. 2021; 23(1):109-118. (In Russ.) doi: 10.17650/1683-3295-2021-23-1-109-118.@@ Макашова Е. С., Золотова С. В., Костюченко В. В., Галкин М. В., Гинзберг М. А., Данилов Г. В., Антипина Н. А., Коновалов Н. А., Голанов А. В. Нейрофиброматоз II типа: новые перспективы в лечении (клиническое наблюдение). Нейрохирургия. 2021;23(1):109-118. doi: 10.17650/1683-3295-2021-23-1-109-118.
3. Adil A., Koritala T., Munakomi S., Singh A. K. Neurofibromatosis Type 1. 2023 Aug 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. PMID: 29083628.
4. Farschtschi S.C., Mainka T., Glatzel M. et al. C-Fiber Loss as a Possible Cause of Neuropathic Pain in Schwannomatosis.Int J Mol Sci. 2020 May 18;21(10):3569. doi: 10.3390/ijms21103569.
5. Kresak J.L., Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet. 2016 Jun;5(2):98-104. doi: 10.1055/s-0036-1579766.
6. Mustafin R. N. Prospects for diagnostics and treatment of neurofibromatosis type 1 in Russia. Siberian journal of oncology. 2023;22(3):119-124. (In Russ.) doi: 10.21294/1814-4861-2023-22-3-119-124.@@ Мустафин Р. Н. Возможности диагностики и лечения нейрофиброматоза 1-го типа в России. Сибирский онкологический журнал. 2023; 22(3):119-124. doi: 10.21294/1814-4861-2023-22-3-119-124.
7. Tsotsonava Z.M., Belopasov V. V., Tkacheva N. V. Neoplastic potential for malformations of the development of ecto- and mesodermal structures. L. O. Badalyan Neurological Journal. 2020;1(4):208-216. (In Russ.)@@ Цоцонава Ж. М., Белопасов В. В., Ткачева Н. В. Неопластический потенциал при пороках развития экто- и мезодермальных структур. Неврологический журнал имени Л. О. Бадаляна. 2020;1(4):208-216. doi: 10.46563/2686-8997-2020-1-4-208-216.
8. Gutmann D.H., Ferner R. E., Listernick R. H., Korf B. R., Wolters P. L., Johnson K. J. Neurofibromatosis type 1. Nat Rev Dis Primers. 2017 Feb 23;3: 17004. doi: 10.1038/nrdp.2017.4.
9. Legius E., Messiaen L., Wolkenstein P., Pancza P., Avery R. A., Berman Y., Blakeley J., Babovic-Vuksanovic D., Cunha K. S., Ferner R., Fisher M. J., Friedman J. M., Gutmann D. H., Kehrer-Sawatzki H., Korf B. R., Mautner V. F., Peltonen S., Rauen K. A., Riccardi V., Schorry E., Stemmer-Rachamimov A., Stevenson D. A., Tadini G., Ullrich N. J., Viskochil D., Wimmer K., Yohay K.; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5.
10. Kutsev S.I., Maschan A. A., Belogurova M. B. et al. Resolution of the Expert council on the problems of diagnosis and treatment of patients with plexiform neurofibromas.Russian Journal of Pediatric Hematology and Oncology. 2021;8(2):144-152. (In Russ.) doi: 10.21682/2311-1267-2021-8-2-144-152.@@ Куцев С. И., Масчан А. А., Белогурова М. Б. и соавт. Резолюция Экспертного совета по проблемам диагностики и лечения пациентов с плексиформными нейрофибромами. Российский журнал детской гематологии и онкологии (РЖДГиО). 2021;8(2):144-152. doi: 10.21682/2311-1267-2021-8-2-144-152.
11. Koczkowska M., Callens T., Chen Y. et al. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929.
12. Friedrich R.E., Tuzcu C. T. Surgery for Peripheral Nerve Sheath Tumours of the Buttocks, Legs and Feet in 90 Patients With Neurofibromatosis Type 1. In Vivo. 2021 Mar-Apr;35(2):889-905. doi: 10.21873/invivo.12329.
13. Zarichanskij V.A., Chkadua T. Z., Egiazaryan A. K., Sogachev G. V. Modern concept of generalized neurofibromatosis type I: diagnosis, treatment. Head and neck.Russian Journal. 2023;11(1):28-36. (in Russ.) doi: 10.25792/HN.2023.11.1.28-36.@@ Заричанский В. А., Чкадуа Т. З., Егиазарян А. К., Согачев Г. В. Современная концепция генерализованного нейрофиброматоза I типа: диагностика, лечение. Head and neck. Голова и шея. Российский журнал. 2023;11(1):28-36. doi: 10.25792/HN.2023.11.1.28-36.
14. Filizoglu N., Ozguven S. Neurofibromatosis Type 2: Multiple Meningiomatosis and Vestibular Schwannomas on 68 Ga-DOTATATE PET/CT. Clin Nucl Med. 2022 Nov 1;47(11): e710-e712. doi: 10.1097/RLU.0000000000004355.
15. Anderson M.K., Johnson M., Thornburg L., Halford Z. A Review of Selumetinib in the Treatment of Neurofibromatosis Type 1-Related Plexiform Neurofibromas. Ann Pharmacother. 2022 Jun;56(6):716-726. doi: 10.1177/10600280211046298.
16. Coy S., Rashid R., Stemmer-Rachamimov A., Santagata S. An update on the CNS manifestations of neurofibromatosis type 2. Acta Neuropathol. 2020 Apr;139(4):643-665. doi: 10.1007/s00401-019-02029-5.
17. Bachir S., Shah S., Shapiro S., Koehler A., Mahammedi A., Samy R. N., Zuccarello M., Schorry E., Sengupta S. Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis.Int J Mol Sci. 2021 Jan 12;22(2):690. doi: 10.3390/ijms22020690.
18. Evans D.G., King A. T., Bowers N. L., Tobi S., Wallace A. J., Perry M., Anup R., Lloyd S. K.L., Rutherford S. A., Hammerbeck-Ward C., Pathmanaban O. N., Stapleton E., Freeman S. R., Kellett M., Halliday D., Parry A., Gair J. J., Axon P., Laitt R., Thomas O., Afridi S., Ferner R. E., Harkness E. F., Smith M. J.; English Specialist NF2 Research Group. Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing. Genet Med. 2019 Jul;21(7):1525-1533. doi: 10.1038/s41436-018-0384-y.
19. Jordan J.T., Smith M. J., Walker J. A. et al. Pain correlates with germline mutation in schwannomatosis. Medicine (Baltimore). 2018 Feb;97(5): e9717. doi: 10.1097/MD.0000000000009717.
20. MacCollin M., Chiocca E. A., Evans D. G. et al. Diagnostic criteria for schwannomatosis. Neurology. 2005 Jun 14;64(11):1838-45. doi: 10.1212/01.WNL.0000163982.78900.AD.
21. Mansouri S., Suppiah S., Mamatjan Y. et al. Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. Acta Neuropathol. 2021 Jan;141(1):101-116. doi: 10.1007/s00401-020-02230-x.
22. Plotkin S.R., Blakeley J. O., Evans D. G. et al. Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. Am J Med Genet A. 2013 Mar;161A(3):405-16. doi: 10.1002/ajmg.a.35760.
23. Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.Int J Mol Sci. 2021 May 29;22(11):5850. doi: 10.3390/ijms22115850.
24. Schraepen C., Donkersloot P., Duyvendak W., Plazier M., Put E., Roosen G., Vanvolsem S., Wissels M., Bamps S. What to know about schwannomatosis: a literature review. Br J Neurosurg. 2022 Apr;36(2):171-174. doi: 10.1080/ 02688697.2020.1836323.
Review
For citations:
Tsotsonava Zh.M., Tkacheva N.V., Gasanova S., Dzeitova A. Neurofibromatoses: pathomorphological and clinical polymorphism, efficacy of targeted therapy. Archives of Pediatrics and Pediatric Surgery. 2024;2(1):196-207. (In Russ.) https://doi.org/10.31146/2949-4664-apps-2-1-196-207
Views:
157
Email this article 