Опухоли головы и шеи. 2025; 15: 115-123
Возможности персонализированной медицины в лечении местно-распространенного нерезектабельного рефрактерного плоскоклеточного рака полости носа с редкой драйверной мутацией
https://doi.org/10.17650/2222-1468-2025-15-3-115-123Аннотация
Рак слизистой оболочки полости носа – злокачественное новообразование, развивающееся из слизистого эпителия полости носа или придаточных пазух. злокачественные новообразования полости носа и придаточных пазух составляют 1,4 % всех злокачественных опухолей и 3–5 % опухолей головы и шеи. Данная патология встречается у мужчин в 2 раза чаще, чем у женщин, и в основном у пациентов старше 55 лет (около 80 % случаев). Пятилетняя общая выживаемость при заболевании I стадии составляет 82 %, при IV – 43 %. Несмотря на совершенствование диагностики рака слизистой оболочки полости носа по-прежнему более чем у 80 % больных его выявляют на III–IV стадии, что связано с неспецифическими симптомами заболевания на ранних (I и II) стадиях. Традиционные методы лечения (хирургическое вмешательство, лучевая терапия и химиотерапия) нередко позволяют добиться полного излечения пациентов с данной патологией. Однако в большинстве случаев при местно-распространенном опухолевом процессе подобный подход обладает ограниченными возможностями и часто сопряжен со значительными побочными эффектами. с учетом прогрессирования плоскоклеточного рака слизистой оболочки полости носа при использовании стандартных схем противоопухолевой терапии необходим поиск новых мишеней для последующей высокоэффективной таргетной терапии. В этом может помочь расширенное молекулярно-генетическое исследование с применением мультигенных панелей на основе секвенирования нового поколения. при раке слизистой оболочки полости носа чаще всего встречаются мутации в 5 генах: TP53 (до 80 % случаев), EGFR (до 77 % случаев), IDH2 (около 55 % случаев), PIK3CA (14 % случаев) и CDKN2A (9 % случаев).
В статье представлен клинический случай успешного лечения местно-распространенного нерезектабельного, рефрактерного к терапии плоскоклеточного рака слизистой оболочки полости носа с редкой драйверной мутацией.
Список литературы
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26. Basset-Seguin N., Maubec E. Recent advanced in the treatment of advanced SCC tumors. Cancers (Basel) 2022;14(3):550. DOI: 10.3390/cancers14030550
27. Buonamici S., Williams J., Morrissey M. et al. Interfering with resistance to smoothened antagonists by inhibition of the PI3K pathway in medulloblastoma. Scie Transl Med 2010;2(51):51ra70. DOI: 10.1126/scitranslmed.3001599
28. Kim J., Aftab B., Tang J. et al. Itraconazole and arsenic trioxide inhibit hedgehog pathway activation and tumor growth associated with acquired resistance to smoothened antagonists. Cancer Cell 2013;23(1):23–34. DOI: 10.1016/j.ccr.2012.11.017
29. Dorywalska M., Dushin R., Moine L. et al. Molecular basis of valine-citrulline-PABC Linker Instability in Site-Specific ADCs and its mitigation by linker design. Mol Cancer Ther 2016;15(5):958–70. DOI: 10.1158/1535-7163.MCT-15-1004
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Head and Neck Tumors (HNT). 2025; 15: 115-123
Successful targeted therapy in treatment of non-resectable refractory squamous cell cancer of nasal cavity with mutation in PTCH1 gene
https://doi.org/10.17650/2222-1468-2025-15-3-115-123Abstract
Cancer of the nasal mucosa is a malignant tumor originating from the mucous epithelium of the nasal cavity or paranasal sinuses. Nasal and paranasal sinus cancer accounts for 1.4 % of all malignancies and 3–5 % of head and neck tumors. Males are twice as likely to be affected as females, particularly those aged 55 years and older (nearly 80 % of cases). The five-year survival rate is 8 2 % in patients with stage I disease and 43 % in patients with stage IV disease. Despite the advances in the diagnosis of nasal cancer, over 80 % of new patients are diagnosed with stage III–IV disease because of nonspecific symptoms in early (I and II) stages. Traditional treatment methods (including surgery, radiation therapy and chemotherapy) often allow us to achieve complete recovery in patients with this disorder. However, in most patients with locally advanced cancer, this approach has a limited effectiveness and is often associated with severe side effects. Considering frequent progression of nasal squamous cell carcinomas on standard regimens, it is necessary to search for new treatment targets to improve outcomes. Extensive molecular testing using multigenic panels based on next-generation sequencing can be helpful in this case. The most common mutations in nasal cancers occur in five genes: TP53 (up to 80 % of cases), EGFR (up to 77 % of cases), IDH2 (approximately 55 % of cases), PIK3CA (14 % of cases), and CDKN2A (9 % of cases). We report a case of successful treatment of a patient with locally advanced, non-resectable, drug-resistant nasal squamous cell carcinoma with a rare driver mutation.
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25. Migden M., Guminski A., Gutzmer R. et al. Treatment with two different doses of sonidegib in patients with locally advanced or metastatic basal cell carcinoma (BOLT): a multicentre, randomised, double-blind phase 2 trial. Lancet Oncol 2015;16(6):716–28. DOI: 10.1016/S1470-2045(15)70100-2
26. Basset-Seguin N., Maubec E. Recent advanced in the treatment of advanced SCC tumors. Cancers (Basel) 2022;14(3):550. DOI: 10.3390/cancers14030550
27. Buonamici S., Williams J., Morrissey M. et al. Interfering with resistance to smoothened antagonists by inhibition of the PI3K pathway in medulloblastoma. Scie Transl Med 2010;2(51):51ra70. DOI: 10.1126/scitranslmed.3001599
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29. Dorywalska M., Dushin R., Moine L. et al. Molecular basis of valine-citrulline-PABC Linker Instability in Site-Specific ADCs and its mitigation by linker design. Mol Cancer Ther 2016;15(5):958–70. DOI: 10.1158/1535-7163.MCT-15-1004
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31. Pastorino L., Pollio A., Pellacani G. et al. Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. PLoS One 2012;7(8):e43827. DOI: 10.1371/journal.pone.0043827
