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Перспективы лечения нейрофиброматоза 1-го типа
Перспективы лечения нейрофиброматоза 1-го типа
Мустафин Р.Н. Перспективы лечения нейрофиброматоза 1-го типа. Современная Онкология. 2022;24(2):209–215. DOI: 10.26442/18151434.2022.2.201431
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Аннотация
Нейрофиброматоз 1-го типа (НФ1) – аутосомно-доминантный наследственный опухолевый синдром, встречающийся с частотой 1:3000 населения. Около 50% случаев болезни – спорадические, в результате вновь возникшей герминативной мутации в гене NF1. Продукт гена – онкосупрессорный белок нейрофибромин, оказывающий негативное регуляторное влияние на систему RAS-RAF-MEK-ERK. Пациенты сохраняют способность к деторождению, и распространенность болезни в человеческой популяции увеличивается. Именно поэтому перспективна разработка быстрых и эффективных методов диагностики мутации NF1 в семьях с НФ1 для проведения вторичной пренатальной профилактики. Мутации в гене NF1 играют роль также в спорадическом канцерогенезе и в развитии резистентности злокачественных опухолей к химиотерапии. Характерными проявлениями НФ1 являются множественные подкожные и кожные нейрофибромы, пигментные пятна на теле, скелетные аномалии, умственная отсталость, опухоли головного мозга и зрительных нервов. Серьезная проблема НФ1 – склонные к озлокачествлению плексиформные нейрофибромы, развивающиеся у 50% больных и часто обезображивающие их внешность или сдавливающие жизненно важные органы. Сложность в лечении связана с вовлечением в патогенез НФ1 иммунной системы, поскольку в нейрофибромах обнаруживается большое количество дегранулирующих тучных клеток. Выбрасываемые при этом цитокины не обеспечивают должного противоопухолевого иммунного ответа, но стимулируют образование новых и рост существующих нейрофибром. В связи с этим одним из методов терапии предложен длительный прием кетотифена. Хирургическое удаление нейрофибром сопряжено с рецидивами и индуцированием роста новых опухолей, поэтому необходим поиск новых способов лечения НФ1. Описана комплексная терапия с применением кетотифена, Лидазы и Аевита для подавления роста нейрофибром при НФ1. Показана эффективность терапии опухолей при НФ1 с помощью АТФ-независимого ингибитора митоген-активируемой протеинкиназы. Однако для его широкого внедрения в клинику необходимы исследования на больших выборках больных, а также доступность лекарства для больных. Перспективна генная терапия, для разработки которой необходимы идентификация типа мутации в гене NF1 у каждого индивида и использование специфических микроРНК.
Ключевые слова: злокачественные новообразования, кетотифен, селуметиниб, лечение, митоген-активируемая протеинкиназа, мутации, нейрофиброматоз 1-го типа, плексиформные нейрофибромы, таргетная терапия
Keywords: malignant neoplasms, ketotifen, selumetinib, treatment, mitogen-activated protein kinase, mutations, neurofibromatosis type 1, plexiform neurofibromas, targeted therapy
Ключевые слова: злокачественные новообразования, кетотифен, селуметиниб, лечение, митоген-активируемая протеинкиназа, мутации, нейрофиброматоз 1-го типа, плексиформные нейрофибромы, таргетная терапия
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Keywords: malignant neoplasms, ketotifen, selumetinib, treatment, mitogen-activated protein kinase, mutations, neurofibromatosis type 1, plexiform neurofibromas, targeted therapy
Полный текст
Список литературы
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2. Ratner N, Miller SJ. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer. 2015;15(5):290-301.
3. Ater JL, Xia C, Mazewski CM, et al. Nonrandomized comparison of neurofibromatosis type 1 and non-neurofibromatosis type 1 children who received carboplatin and vincristine for progressive low-grade glioma: A report from the Children’s Oncology Group. Cancer. 2016;122(12):1928-36. DOI:10.1002/cncr.29987
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5. Payne JM, Barton B, Ullrich NJ, et al. Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. Neurology. 2016;87(24):2575-84.
6. Baldo F, Grasso AG, Wiel LC, et al. Selumetinib in the Treatment of Symptomatic Intractable Plexiform Neurofibromas in Neurofibromatosis Type 1: A Prospective Case Series with Emphasis on Side Effects. Paediatr Drugs. 2020;22(4):417-23.
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8. Whittaker SR, Theurillat JP, Allen EV, et al. A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition. Cancer Discov. 2013;3(3):350-62.
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11. Pearson A, Proszek P, Pascual J, et al. Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance. Clin Cancer Res. 2020;26(3):608-22.
12. Su J, Ruan S, Dai S, et al. NF1 regulates apoptosis in ovarian cancer cells by targeting MCL1 via miR-142-5p. Pharmacogenomics. 2019;20(3):155-65.
13. Vedrine SM, Vourc’h P, Tabagh R, et al. A functional Tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. Neurosci Lett. 2011;491(2):118-21. DOI:10.1016/j.neulet.2011.01.019
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15. Riccardi VM. Current utilization of mast cell stabilizers for preemptive treatment of NF1 neurofibromas. Neuro Open Journal. 2015;2(2):67-73.
16. Yang FC, Ingram DA, Chen S, et al. Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells. J Clin Invest. 2003;112(12):1851-61.
17. Chen S, Burgin S, McDaniel A, et al. Nf1-/- Schwann cell-conditioned medium modulates mast cell degranulation by c-Kit-mediated hyperactivation of phpsphatidylinositol 3-kinase. Am J Pathol. 2010;177(6):3125-32.
18. Karmakar S, Reilly KM. The role of the immune system in neurofibromatosis type 1-associated nervous system tumors. CNS Oncol. 2017;6(1):45-60.
19. Farschtschi S, Park SJ, Sawitzki B, et al. Effector T cell subclasses associate with tumor burden in neurofibromatosis type 1 patients. Cancer Immunol Immunother. 2016;65(9):1113-21.
20. Marjanska A, Kbicka M, Kurylo-Rafinska B, et al. Lymphocyte Subpopulations in Patients With Neurofibromatosis Type 1-associated Optic Pathway Gliomas and Plexiform Neurofibromas. Anticancer Res. 2019;39(11):6389-92.
21. Park SJ, Sawitzki B, Klowe L, et al. Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors. BMC Med. 2013;11:109. DOI:10.1186/1741-7015-11-109
22. Mashour GA, Driever PH, Hartmann M, et al. Circulating growth factor levels are associated with tumorigenesis in neurofibromatosis type 1. Clin Cancer Res. 2004;10(17):5677-83.
23. Paschou M, Doxakis E. Neurofibromin 1 is a miRNA target in neurons. PLoS One. 2012;7(10):346773. DOI:10.1371/journal.pone.0046773
24. Stark MS, Bonazzi VF, Boyle GM, et al. miR-514a regulates the tumour suppressor NF1 and modulates BRAFi sensitivity in melanoma. Oncotarget. 2015;6(19):17753‑63. DOI:10.18632/oncotarget.3924
25. Wang S, Ma G, Zhu H, et al. miR-107 regulates tumor progression by targeting NF1 in gastric cancer. Sci Rep. 2016;6:36531. DOI:10.1038/srep36531
26. Sun XX, Zhang SS, Dai CY, et al. LuksS-PV-Regulated MicroRNA-125a 3p Promotes THP-1 Macrophages Differentiation and Apoptosis by Down-Regulating NF1 and Bcl-2. Cell Physiol. Biochem. 2017;44(3):1093-105.
27. Guo L, Li B, Yang J, et al. Fibroblast-derived exosomal microRNA-369 potentiates migration and invasion of lung squamous cell carcinoma cells via NF1-mediated MAPK signaling pathway. Int J Mol Med. 2020;46(2):595-608.
28. Chen J, Cui J, Guo X, et al. Increased expression of miR-641 contributes to erlotinib resistance in non-small-cell lung cancer cells by targeting NF1. Cancer Med. 2018;7(4):1394-403. DOI:10.1002/cam4.1326
29. Zhu H, Yang J, Yang S. MicroRNA-103a-3p potentiates chemoresistance to cisplatin in non-small cell lung carcinoma by targeting neurofibromatosis 1. Exp Ther Med. 2020;19(3):1797-805. DOI:10.3892/etm.2020.8418
30. Li S, Li W, Chen G, et al. MiRNA-27a-3p induces temozolomide resistance in gliomas by inhibiting NF1 level. Am J Transl Res. 2020;12(8):4749-56.
31. Lu H, Liu P, Pang Q. MiR-27a-3p/miR-27b-3p Promotes Neurofibromatosis Type 1 via Targeting of NF1. J Mol Neurosci. 2021;71(11):2353-63.
DOI:10.1007/s12031-020-01779-2
32. Walker JA, Upadhyaya M. Emerging therapeutic targeting for neurofibromatosis. Expert Opin Ther Targets. 2018;22(5):419-37.
33. Cui XW, Ren JY, Gu YH, et al. NF1, Neurofibromin and Gene Therapy: Prospects of Next-Generation Therapy. Curr Gene Ther. 2020;20(2):100-8.
DOI:10.2174/1566523220666200806111451
34. Keeling KM, Xue X, Gunn G, Bedwell DM. Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet. 2014;15:371-94.
35. Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFRT function by overcoming premature stop mutations. Nat Med. 1996;2(4):467-9.
36. Lee MJ, Hung SH, Huang MC, et al. Doxycycline potentiates antitumor effect of 5-aminolevulinic acid-mediated photodynamic therapy in malignant peripheral nerve sheath tumor cells. PLoS One. 2017;12(5):e0178493.
37. Pros E, Fernandez-Rodriguez J, Canet B, et al. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat. 2009;30(3):454-62.
38. Xing H, Meng L. CRISPR-cas9: a powerful tool towards precision medicine in cancer treatment. Acta Pharmacol Sin. 2020;41(5):583-7.
39. Li X, Gao M, Choi JM, et al. Clustered, Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9-coupled Affinity Purification/Mass Spectrometry Analysis Revealed a Novel Role of Neurofibromin in mTOR Signaling. Mol Cell Proteomics. 2017;16(4):594-607. DOI:10.1074/mcp.M116.064543
40. Zehou O, Ferkal S, Brugieres P, et al. Absence of Efficacy of Everolimus in Neurofibromatosis 1-Related Plexiform Neurofibromas: Results from a Phase 2a Trial. J Invest Dermatol. 2019;139(3):718-20.
41. Gottfried ON, Viskochil DH, Fults DW, Couldwell WT. Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications. Neurosurgery. 2006;58(1):1-16.
42. Robertson KA, Nalepa G, Yang FC, et al. Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. Lancet Oncol. 2012;13(12):1218-24.
43. Jakacki RI, Dombi E, Steinberg SM, et al. Phase II trial of pegylated interferon alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas. Neuro Oncol. 2017;19(2):289-97.
44. Babovic-Vuksanovic D, Ballman K, Michels V, et al. Phase II trial of pirfenidone in adults with neurofibromatosis type 1. Neurology. 2006;67(10):1860-2.
45. Widemann BC, Babovic-Vuksnovic D, Dombi E, et al. Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. Pediatr Blood Cancer. 2014;61(9):1598-602.
46. Widemann BC, Dombi E, Gillespie A, et al. Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. Neuro Oncol. 2014;16(5):707-18.
47. Galvin R, Watson AL, Largaespada DA, et al. Neurofibromatosis in the Era of Precision Medicine: Development of MEK Inhibitors and Recent Successes with Selumetinib. Curr Oncol Rep. 2021;23(4):45. DOI:10.1007/s11912-021-01032-y
48. Dombi E, Baldwin A, Marcus L, et al. Activity of Selumetinib in Neurofibromatosis Type1-Related Plexiform Neurofibromas. N Engl J Med. 2016;375(26):2550-60. DOI:10.1056/NEJMoa1605943
49. Ahsan S, Ge Y, Tainsky M.A. Combinatorial therapeutic targeting of BMP2 and MEK-ERK pathways in NF1-associated malignant peripheral nerve sheath tumors. Oncotarget. 2016;7(35):57171-85. DOI:10.18632/oncotarget.11036
50. Baldo F, Magnolato A, Barbi E, Bruno I. Selumetinib side effects in children treated for plexiform neurofibromas: first case reports of peripheral edema and hair color change. BMC Pediatr. 2021;21(1):67. DOI:10.1186/s12887-021-02530-5
51. Santo VE, Passos J, Nzwalo H, et al. Selumetinib for plexiform neurofibromas in neurofibromatosis type 1: a single-institution experience. J Neurooncol. 2020;147(2):459-63. DOI:10.1007/s11060-020-03443-6
52. Gross AM, Wolters PL, Dombi E, et al. Selubetinib in Children with Inoperable Plexiform Neurofibromas. N Engl J Med. 2020;382(15):1430‑42. DOI:10.1056/NEJMoa1912735
53. Fangusaro J, Onar-Thomas A, Poussaint TY, et al. Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type-1-associated recurrent, refractory, or progressive low-grade gliomas: a multicentre, phase 2 trial. Lancet Oncol. 2019;20(7):1011-22.
54. Jackson S, Baker EH, Gross AM, et al. The MEK inhibitor selumetinib reduces spinal neurofibroma burden in patients with NF1 and plexiform neurofibromas. Neurooncol Adv. 2020;2(1):vdaa095. DOI:10.1093/moajnl/vdaa095
55. Bearden CE, Hellemann GS, Rosser T, et al. A randomized placebo-controlled lovastatin trial for neurobehavioral function in neurofibromatosis I. Ann Clin Transl Neurol. 2016;3(4):266-79. DOI:10.1002/acn3.288
56. Carnes RM, Kesterson RA, Korf BR, et al. Affinity Purification of NF1 Protein-Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners. Genes (Basel). 2019;10(9):650. DOI:10.3390/genes10090650
57. Makurdumian LA. Effektivnost' kompleksnoi metodiki lecheniia bol'nykh neirofibromatozom I tipa (bolezn'iu Reklingkhauzena): dis. … kand. med. nauk. Moscow, 2003 (in Russian).
58. Wang S, Liechty B, Patel S, et al. Programmed death ligand 1 expression and tumor infiltrating lymphocytes in neurofibromatosis type 1 and 2 associated tumors. J Neurooncol. 2018;138(1):183-90. DOI:10.1007/s11060-018-2788-6
59. Karajannis MA, Legault G, Fisher MJ, et al. Phase II study of sorafenib in children with recurrent or progressive low-grade astrocytomas. Neuro Oncol. 2014;16(10):1408-16. DOI:10.1093/neuonc/nou059
60. Thomson CS, Pundavela J, Perrino M, et al. WNT5A inhibition alters the malignant peripheral nerve sheath tumor microenvironment and enhances tumor growth. Oncogene. 2021;40(24):4229-41. DOI:10.1038/s41388-021-01773-x
DOI:10.1038/s41434-019-0080-9
2. Ratner N, Miller SJ. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer. 2015;15(5):290-301.
3. Ater JL, Xia C, Mazewski CM, et al. Nonrandomized comparison of neurofibromatosis type 1 and non-neurofibromatosis type 1 children who received carboplatin and vincristine for progressive low-grade glioma: A report from the Children’s Oncology Group. Cancer. 2016;122(12):1928-36. DOI:10.1002/cncr.29987
4. Wei CJ, Gu SC, Ren JY, et al. The impact of host immune cells on the development of neurofibromatosis type 1: The abnormal immune system provides an immune microenvironment for tumorigenesis. Neurooncol Adv. 2019;1(1):vdz037.
5. Payne JM, Barton B, Ullrich NJ, et al. Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. Neurology. 2016;87(24):2575-84.
6. Baldo F, Grasso AG, Wiel LC, et al. Selumetinib in the Treatment of Symptomatic Intractable Plexiform Neurofibromas in Neurofibromatosis Type 1: A Prospective Case Series with Emphasis on Side Effects. Paediatr Drugs. 2020;22(4):417-23.
7. Philpott C, Tovell H, Frayling IM, et al. The NF1 somatic mutational landscape in sporadic human cancers. Hum Genomics. 2017;11(1):13.
8. Whittaker SR, Theurillat JP, Allen EV, et al. A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition. Cancer Discov. 2013;3(3):350-62.
9. De Bruin EC, Cowell C, Warne PH, et al. Reduced NF1 expression confers resistance to EGFR inhibition in lung cancer. Cancer Discov. 2014;4(5):606-19.
10. Krauthammer M, Kong Y, Bacchiocchi A, et al. Exome sequencing identifies recrurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas. Nat Genet. 2015;47(9):996-1002. DOI:10.1038/ng.3361
11. Pearson A, Proszek P, Pascual J, et al. Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance. Clin Cancer Res. 2020;26(3):608-22.
12. Su J, Ruan S, Dai S, et al. NF1 regulates apoptosis in ovarian cancer cells by targeting MCL1 via miR-142-5p. Pharmacogenomics. 2019;20(3):155-65.
13. Vedrine SM, Vourc’h P, Tabagh R, et al. A functional Tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. Neurosci Lett. 2011;491(2):118-21. DOI:10.1016/j.neulet.2011.01.019
14. Zhu C, Saberwal G, Lu Y, et al. The interferon consensus sequence-binding protein activates transcription of the gene encoding neurofibromin 1. J Biol Chem. 2004;279(49):50874-85. DOI:10.1074/jbc.M405736200
15. Riccardi VM. Current utilization of mast cell stabilizers for preemptive treatment of NF1 neurofibromas. Neuro Open Journal. 2015;2(2):67-73.
16. Yang FC, Ingram DA, Chen S, et al. Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells. J Clin Invest. 2003;112(12):1851-61.
17. Chen S, Burgin S, McDaniel A, et al. Nf1-/- Schwann cell-conditioned medium modulates mast cell degranulation by c-Kit-mediated hyperactivation of phpsphatidylinositol 3-kinase. Am J Pathol. 2010;177(6):3125-32.
18. Karmakar S, Reilly KM. The role of the immune system in neurofibromatosis type 1-associated nervous system tumors. CNS Oncol. 2017;6(1):45-60.
19. Farschtschi S, Park SJ, Sawitzki B, et al. Effector T cell subclasses associate with tumor burden in neurofibromatosis type 1 patients. Cancer Immunol Immunother. 2016;65(9):1113-21.
20. Marjanska A, Kbicka M, Kurylo-Rafinska B, et al. Lymphocyte Subpopulations in Patients With Neurofibromatosis Type 1-associated Optic Pathway Gliomas and Plexiform Neurofibromas. Anticancer Res. 2019;39(11):6389-92.
21. Park SJ, Sawitzki B, Klowe L, et al. Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors. BMC Med. 2013;11:109. DOI:10.1186/1741-7015-11-109
22. Mashour GA, Driever PH, Hartmann M, et al. Circulating growth factor levels are associated with tumorigenesis in neurofibromatosis type 1. Clin Cancer Res. 2004;10(17):5677-83.
23. Paschou M, Doxakis E. Neurofibromin 1 is a miRNA target in neurons. PLoS One. 2012;7(10):346773. DOI:10.1371/journal.pone.0046773
24. Stark MS, Bonazzi VF, Boyle GM, et al. miR-514a regulates the tumour suppressor NF1 and modulates BRAFi sensitivity in melanoma. Oncotarget. 2015;6(19):17753‑63. DOI:10.18632/oncotarget.3924
25. Wang S, Ma G, Zhu H, et al. miR-107 regulates tumor progression by targeting NF1 in gastric cancer. Sci Rep. 2016;6:36531. DOI:10.1038/srep36531
26. Sun XX, Zhang SS, Dai CY, et al. LuksS-PV-Regulated MicroRNA-125a 3p Promotes THP-1 Macrophages Differentiation and Apoptosis by Down-Regulating NF1 and Bcl-2. Cell Physiol. Biochem. 2017;44(3):1093-105.
27. Guo L, Li B, Yang J, et al. Fibroblast-derived exosomal microRNA-369 potentiates migration and invasion of lung squamous cell carcinoma cells via NF1-mediated MAPK signaling pathway. Int J Mol Med. 2020;46(2):595-608.
28. Chen J, Cui J, Guo X, et al. Increased expression of miR-641 contributes to erlotinib resistance in non-small-cell lung cancer cells by targeting NF1. Cancer Med. 2018;7(4):1394-403. DOI:10.1002/cam4.1326
29. Zhu H, Yang J, Yang S. MicroRNA-103a-3p potentiates chemoresistance to cisplatin in non-small cell lung carcinoma by targeting neurofibromatosis 1. Exp Ther Med. 2020;19(3):1797-805. DOI:10.3892/etm.2020.8418
30. Li S, Li W, Chen G, et al. MiRNA-27a-3p induces temozolomide resistance in gliomas by inhibiting NF1 level. Am J Transl Res. 2020;12(8):4749-56.
31. Lu H, Liu P, Pang Q. MiR-27a-3p/miR-27b-3p Promotes Neurofibromatosis Type 1 via Targeting of NF1. J Mol Neurosci. 2021;71(11):2353-63.
DOI:10.1007/s12031-020-01779-2
32. Walker JA, Upadhyaya M. Emerging therapeutic targeting for neurofibromatosis. Expert Opin Ther Targets. 2018;22(5):419-37.
33. Cui XW, Ren JY, Gu YH, et al. NF1, Neurofibromin and Gene Therapy: Prospects of Next-Generation Therapy. Curr Gene Ther. 2020;20(2):100-8.
DOI:10.2174/1566523220666200806111451
34. Keeling KM, Xue X, Gunn G, Bedwell DM. Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet. 2014;15:371-94.
35. Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFRT function by overcoming premature stop mutations. Nat Med. 1996;2(4):467-9.
36. Lee MJ, Hung SH, Huang MC, et al. Doxycycline potentiates antitumor effect of 5-aminolevulinic acid-mediated photodynamic therapy in malignant peripheral nerve sheath tumor cells. PLoS One. 2017;12(5):e0178493.
37. Pros E, Fernandez-Rodriguez J, Canet B, et al. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat. 2009;30(3):454-62.
38. Xing H, Meng L. CRISPR-cas9: a powerful tool towards precision medicine in cancer treatment. Acta Pharmacol Sin. 2020;41(5):583-7.
39. Li X, Gao M, Choi JM, et al. Clustered, Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9-coupled Affinity Purification/Mass Spectrometry Analysis Revealed a Novel Role of Neurofibromin in mTOR Signaling. Mol Cell Proteomics. 2017;16(4):594-607. DOI:10.1074/mcp.M116.064543
40. Zehou O, Ferkal S, Brugieres P, et al. Absence of Efficacy of Everolimus in Neurofibromatosis 1-Related Plexiform Neurofibromas: Results from a Phase 2a Trial. J Invest Dermatol. 2019;139(3):718-20.
41. Gottfried ON, Viskochil DH, Fults DW, Couldwell WT. Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications. Neurosurgery. 2006;58(1):1-16.
42. Robertson KA, Nalepa G, Yang FC, et al. Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. Lancet Oncol. 2012;13(12):1218-24.
43. Jakacki RI, Dombi E, Steinberg SM, et al. Phase II trial of pegylated interferon alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas. Neuro Oncol. 2017;19(2):289-97.
44. Babovic-Vuksanovic D, Ballman K, Michels V, et al. Phase II trial of pirfenidone in adults with neurofibromatosis type 1. Neurology. 2006;67(10):1860-2.
45. Widemann BC, Babovic-Vuksnovic D, Dombi E, et al. Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. Pediatr Blood Cancer. 2014;61(9):1598-602.
46. Widemann BC, Dombi E, Gillespie A, et al. Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. Neuro Oncol. 2014;16(5):707-18.
47. Galvin R, Watson AL, Largaespada DA, et al. Neurofibromatosis in the Era of Precision Medicine: Development of MEK Inhibitors and Recent Successes with Selumetinib. Curr Oncol Rep. 2021;23(4):45. DOI:10.1007/s11912-021-01032-y
48. Dombi E, Baldwin A, Marcus L, et al. Activity of Selumetinib in Neurofibromatosis Type1-Related Plexiform Neurofibromas. N Engl J Med. 2016;375(26):2550-60. DOI:10.1056/NEJMoa1605943
49. Ahsan S, Ge Y, Tainsky M.A. Combinatorial therapeutic targeting of BMP2 and MEK-ERK pathways in NF1-associated malignant peripheral nerve sheath tumors. Oncotarget. 2016;7(35):57171-85. DOI:10.18632/oncotarget.11036
50. Baldo F, Magnolato A, Barbi E, Bruno I. Selumetinib side effects in children treated for plexiform neurofibromas: first case reports of peripheral edema and hair color change. BMC Pediatr. 2021;21(1):67. DOI:10.1186/s12887-021-02530-5
51. Santo VE, Passos J, Nzwalo H, et al. Selumetinib for plexiform neurofibromas in neurofibromatosis type 1: a single-institution experience. J Neurooncol. 2020;147(2):459-63. DOI:10.1007/s11060-020-03443-6
52. Gross AM, Wolters PL, Dombi E, et al. Selubetinib in Children with Inoperable Plexiform Neurofibromas. N Engl J Med. 2020;382(15):1430‑42. DOI:10.1056/NEJMoa1912735
53. Fangusaro J, Onar-Thomas A, Poussaint TY, et al. Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type-1-associated recurrent, refractory, or progressive low-grade gliomas: a multicentre, phase 2 trial. Lancet Oncol. 2019;20(7):1011-22.
54. Jackson S, Baker EH, Gross AM, et al. The MEK inhibitor selumetinib reduces spinal neurofibroma burden in patients with NF1 and plexiform neurofibromas. Neurooncol Adv. 2020;2(1):vdaa095. DOI:10.1093/moajnl/vdaa095
55. Bearden CE, Hellemann GS, Rosser T, et al. A randomized placebo-controlled lovastatin trial for neurobehavioral function in neurofibromatosis I. Ann Clin Transl Neurol. 2016;3(4):266-79. DOI:10.1002/acn3.288
56. Carnes RM, Kesterson RA, Korf BR, et al. Affinity Purification of NF1 Protein-Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners. Genes (Basel). 2019;10(9):650. DOI:10.3390/genes10090650
57. Макурдумян Л.А. Эффективность комплексной методики лечения больных нейрофиброматозом I типа (болезнью Реклингхаузена): дис. … канд. мед. наук. М., 2003 [Makurdumian LA. Effektivnost' kompleksnoi metodiki lecheniia bol'nykh neirofibromatozom I tipa (bolezn'iu Reklingkhauzena): dis. … kand. med. nauk. Moscow, 2003 (in Russian)].
58. Wang S, Liechty B, Patel S, et al. Programmed death ligand 1 expression and tumor infiltrating lymphocytes in neurofibromatosis type 1 and 2 associated tumors. J Neurooncol. 2018;138(1):183-90. DOI:10.1007/s11060-018-2788-6
59. Karajannis MA, Legault G, Fisher MJ, et al. Phase II study of sorafenib in children with recurrent or progressive low-grade astrocytomas. Neuro Oncol. 2014;16(10):1408-16. DOI:10.1093/neuonc/nou059
60. Thomson CS, Pundavela J, Perrino M, et al. WNT5A inhibition alters the malignant peripheral nerve sheath tumor microenvironment and enhances tumor growth. Oncogene. 2021;40(24):4229-41. DOI:10.1038/s41388-021-01773-x
________________________________________________
DOI:10.1038/s41434-019-0080-9
2. Ratner N, Miller SJ. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer. 2015;15(5):290-301.
3. Ater JL, Xia C, Mazewski CM, et al. Nonrandomized comparison of neurofibromatosis type 1 and non-neurofibromatosis type 1 children who received carboplatin and vincristine for progressive low-grade glioma: A report from the Children’s Oncology Group. Cancer. 2016;122(12):1928-36. DOI:10.1002/cncr.29987
4. Wei CJ, Gu SC, Ren JY, et al. The impact of host immune cells on the development of neurofibromatosis type 1: The abnormal immune system provides an immune microenvironment for tumorigenesis. Neurooncol Adv. 2019;1(1):vdz037.
5. Payne JM, Barton B, Ullrich NJ, et al. Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. Neurology. 2016;87(24):2575-84.
6. Baldo F, Grasso AG, Wiel LC, et al. Selumetinib in the Treatment of Symptomatic Intractable Plexiform Neurofibromas in Neurofibromatosis Type 1: A Prospective Case Series with Emphasis on Side Effects. Paediatr Drugs. 2020;22(4):417-23.
7. Philpott C, Tovell H, Frayling IM, et al. The NF1 somatic mutational landscape in sporadic human cancers. Hum Genomics. 2017;11(1):13.
8. Whittaker SR, Theurillat JP, Allen EV, et al. A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition. Cancer Discov. 2013;3(3):350-62.
9. De Bruin EC, Cowell C, Warne PH, et al. Reduced NF1 expression confers resistance to EGFR inhibition in lung cancer. Cancer Discov. 2014;4(5):606-19.
10. Krauthammer M, Kong Y, Bacchiocchi A, et al. Exome sequencing identifies recrurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas. Nat Genet. 2015;47(9):996-1002. DOI:10.1038/ng.3361
11. Pearson A, Proszek P, Pascual J, et al. Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance. Clin Cancer Res. 2020;26(3):608-22.
12. Su J, Ruan S, Dai S, et al. NF1 regulates apoptosis in ovarian cancer cells by targeting MCL1 via miR-142-5p. Pharmacogenomics. 2019;20(3):155-65.
13. Vedrine SM, Vourc’h P, Tabagh R, et al. A functional Tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. Neurosci Lett. 2011;491(2):118-21. DOI:10.1016/j.neulet.2011.01.019
14. Zhu C, Saberwal G, Lu Y, et al. The interferon consensus sequence-binding protein activates transcription of the gene encoding neurofibromin 1. J Biol Chem. 2004;279(49):50874-85. DOI:10.1074/jbc.M405736200
15. Riccardi VM. Current utilization of mast cell stabilizers for preemptive treatment of NF1 neurofibromas. Neuro Open Journal. 2015;2(2):67-73.
16. Yang FC, Ingram DA, Chen S, et al. Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells. J Clin Invest. 2003;112(12):1851-61.
17. Chen S, Burgin S, McDaniel A, et al. Nf1-/- Schwann cell-conditioned medium modulates mast cell degranulation by c-Kit-mediated hyperactivation of phpsphatidylinositol 3-kinase. Am J Pathol. 2010;177(6):3125-32.
18. Karmakar S, Reilly KM. The role of the immune system in neurofibromatosis type 1-associated nervous system tumors. CNS Oncol. 2017;6(1):45-60.
19. Farschtschi S, Park SJ, Sawitzki B, et al. Effector T cell subclasses associate with tumor burden in neurofibromatosis type 1 patients. Cancer Immunol Immunother. 2016;65(9):1113-21.
20. Marjanska A, Kbicka M, Kurylo-Rafinska B, et al. Lymphocyte Subpopulations in Patients With Neurofibromatosis Type 1-associated Optic Pathway Gliomas and Plexiform Neurofibromas. Anticancer Res. 2019;39(11):6389-92.
21. Park SJ, Sawitzki B, Klowe L, et al. Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors. BMC Med. 2013;11:109. DOI:10.1186/1741-7015-11-109
22. Mashour GA, Driever PH, Hartmann M, et al. Circulating growth factor levels are associated with tumorigenesis in neurofibromatosis type 1. Clin Cancer Res. 2004;10(17):5677-83.
23. Paschou M, Doxakis E. Neurofibromin 1 is a miRNA target in neurons. PLoS One. 2012;7(10):346773. DOI:10.1371/journal.pone.0046773
24. Stark MS, Bonazzi VF, Boyle GM, et al. miR-514a regulates the tumour suppressor NF1 and modulates BRAFi sensitivity in melanoma. Oncotarget. 2015;6(19):17753‑63. DOI:10.18632/oncotarget.3924
25. Wang S, Ma G, Zhu H, et al. miR-107 regulates tumor progression by targeting NF1 in gastric cancer. Sci Rep. 2016;6:36531. DOI:10.1038/srep36531
26. Sun XX, Zhang SS, Dai CY, et al. LuksS-PV-Regulated MicroRNA-125a 3p Promotes THP-1 Macrophages Differentiation and Apoptosis by Down-Regulating NF1 and Bcl-2. Cell Physiol. Biochem. 2017;44(3):1093-105.
27. Guo L, Li B, Yang J, et al. Fibroblast-derived exosomal microRNA-369 potentiates migration and invasion of lung squamous cell carcinoma cells via NF1-mediated MAPK signaling pathway. Int J Mol Med. 2020;46(2):595-608.
28. Chen J, Cui J, Guo X, et al. Increased expression of miR-641 contributes to erlotinib resistance in non-small-cell lung cancer cells by targeting NF1. Cancer Med. 2018;7(4):1394-403. DOI:10.1002/cam4.1326
29. Zhu H, Yang J, Yang S. MicroRNA-103a-3p potentiates chemoresistance to cisplatin in non-small cell lung carcinoma by targeting neurofibromatosis 1. Exp Ther Med. 2020;19(3):1797-805. DOI:10.3892/etm.2020.8418
30. Li S, Li W, Chen G, et al. MiRNA-27a-3p induces temozolomide resistance in gliomas by inhibiting NF1 level. Am J Transl Res. 2020;12(8):4749-56.
31. Lu H, Liu P, Pang Q. MiR-27a-3p/miR-27b-3p Promotes Neurofibromatosis Type 1 via Targeting of NF1. J Mol Neurosci. 2021;71(11):2353-63.
DOI:10.1007/s12031-020-01779-2
32. Walker JA, Upadhyaya M. Emerging therapeutic targeting for neurofibromatosis. Expert Opin Ther Targets. 2018;22(5):419-37.
33. Cui XW, Ren JY, Gu YH, et al. NF1, Neurofibromin and Gene Therapy: Prospects of Next-Generation Therapy. Curr Gene Ther. 2020;20(2):100-8.
DOI:10.2174/1566523220666200806111451
34. Keeling KM, Xue X, Gunn G, Bedwell DM. Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet. 2014;15:371-94.
35. Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFRT function by overcoming premature stop mutations. Nat Med. 1996;2(4):467-9.
36. Lee MJ, Hung SH, Huang MC, et al. Doxycycline potentiates antitumor effect of 5-aminolevulinic acid-mediated photodynamic therapy in malignant peripheral nerve sheath tumor cells. PLoS One. 2017;12(5):e0178493.
37. Pros E, Fernandez-Rodriguez J, Canet B, et al. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat. 2009;30(3):454-62.
38. Xing H, Meng L. CRISPR-cas9: a powerful tool towards precision medicine in cancer treatment. Acta Pharmacol Sin. 2020;41(5):583-7.
39. Li X, Gao M, Choi JM, et al. Clustered, Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9-coupled Affinity Purification/Mass Spectrometry Analysis Revealed a Novel Role of Neurofibromin in mTOR Signaling. Mol Cell Proteomics. 2017;16(4):594-607. DOI:10.1074/mcp.M116.064543
40. Zehou O, Ferkal S, Brugieres P, et al. Absence of Efficacy of Everolimus in Neurofibromatosis 1-Related Plexiform Neurofibromas: Results from a Phase 2a Trial. J Invest Dermatol. 2019;139(3):718-20.
41. Gottfried ON, Viskochil DH, Fults DW, Couldwell WT. Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications. Neurosurgery. 2006;58(1):1-16.
42. Robertson KA, Nalepa G, Yang FC, et al. Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. Lancet Oncol. 2012;13(12):1218-24.
43. Jakacki RI, Dombi E, Steinberg SM, et al. Phase II trial of pegylated interferon alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas. Neuro Oncol. 2017;19(2):289-97.
44. Babovic-Vuksanovic D, Ballman K, Michels V, et al. Phase II trial of pirfenidone in adults with neurofibromatosis type 1. Neurology. 2006;67(10):1860-2.
45. Widemann BC, Babovic-Vuksnovic D, Dombi E, et al. Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas. Pediatr Blood Cancer. 2014;61(9):1598-602.
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Авторы
Р.Н. Мустафин*
ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России, Уфа, Россия
*ruji79@mail.ru
Bashkir State Medical University, Ufa, Russia
*ruji79@mail.ru
ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава России, Уфа, Россия
*ruji79@mail.ru
________________________________________________
Bashkir State Medical University, Ufa, Russia
*ruji79@mail.ru
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