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SDH-deficient-гастроинтестинальные стромальные опухоли: парадоксальный эффект иматиниба
SDH-deficient-гастроинтестинальные стромальные опухоли: парадоксальный эффект иматиниба
Филоненко Д.А., Мещеряков А.А., Архири П.П. и др. SDH-deficient-гастроинтестинальные стромальные опухоли: парадоксальный эффект иматиниба. Современная Онкология. 2020; 22 (2): 133–136. DOI: 10.26442/18151434.2020.1.200053
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Аннотация
Гастроинтестинальные стромальные опухоли (ГИСО) с дефицитом сукцинатдегидрогеназы (dSDH GIST) – уникальная подгруппа ГИСО, при которых ключевым механизмом канцерогенеза являются нарушение метаболизма клетки и отсутствие мутаций генов KIT, PDGFRA. Дефицит SDH возникает вследствие мутаций генов SDHA, SDHB, SDHC, SDHD. Выделяют три варианта dSDH GIST: спорадические ГИСО, триада Карнея и диада Карнея (синдром Карнея–Стратакиса). Для dSDH GIST характерны ранний возраст, женский пол, локализация опухоли в желудке, мультифокальный рост, метастазирование в лимфатические узлы, индолентное течение и отсутствие эффекта иматиниба. Несмотря на данные литературы, наш клинический случай демонстрирует эффект иматиниба у пациентки с dSDH GIST. Пациентке 21 года с неполной триадой Карнея (множественные ГИСО желудка с метастазами в печени, по брюшине, хондрома в левом легком) был назначен иматиниб, через месяц отмечен клинический эффект, через 3 мес рентгенологический ответ – кистозная трансформация метастазов в печени, опухоли желудка. Эффект длился 8 мес.
Ключевые слова: гастроинтестинальный стромальные опухоли, сукцинатдегидрогеназа, триада Карнея, иматиниб.
Key words: gastrointestinal stromal tumors, succinate dehydrogenase, Carney triad, imatinib.
Ключевые слова: гастроинтестинальный стромальные опухоли, сукцинатдегидрогеназа, триада Карнея, иматиниб.
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Key words: gastrointestinal stromal tumors, succinate dehydrogenase, Carney triad, imatinib.
Полный текст
Список литературы
1. Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998; 279 (5350): 577–80.
2. Miettinen M, Lasota J. Gastrointestinal stromal tumors-definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 2001; 438 (1): 1.
3. Corless CL, Schroeder A, Griffith D et al. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23 (23): 5357.
4. Gill AJ, Chou A, Vilain R et al. Immunohistochemistry for SDHB Divides Gastrointestinal Stromal Tumors (GISTs) into 2 Distinct Types. Am J Surg Pathol 2010; 34 (34): 636–44.
5. Boikos SA, Pappo AS, Killian JK et al. Molecular subtypes of KIT/PDGFRA wild-type gastrointestinal stromal tumors: a report from the National Institutes of Health Gastrointestinal Stromal Tumor Clinic. JAMA Oncol 2016; 2 (7): 922–8.
6. Miettinen M, Lasota J. Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) – a review. Int J Biochem Cell Biology 2014; 53: 514–9.
7. The Nobile Prize in Phisiology or Medicine 1931. www.nobelprize.org/prizes/medicine/1931
8. Selak MA, Armour SM et al. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-prolyl hydroxylase. Cancer Сell 2005; 7: 77–85.
9. Pozza ED, Dando I, Pacchiana R et al. Regulation of succinate dehydrogenase and role of succinate in cancer. Semin Cell Dev Biol 2019: S1084-9521(19)30056-4.
10. Eijkelenkamp K, Osinga T, Links T. Clinical implications of the oncometabolite succinate in SDHx-mutation carriers. Clin Genetics 2020; 97: 39–53.
11. Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266 (1): 43–52.
12. Haller F, Moskalev EA, Faucz FR. Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. Endocr Relat Cancer 2014; 21 (4): 567–77. DOI: 10.1530/ERC-14-0254
13. Zhang L, Thomas C et al. Gastric Stromal Tumors in Carney Triad Are Different Clinically, Pathologically, and Behaviorally From Sporadic Gastric Gastrointestinal Stromal Tumors: Findings in 104 Cases. Am J Surg Pathol 2010; 34 (1): 53–64.
14. Ben-Ami E, Barysauskas CM, von Mehren M et al. Long-term follow-up results of the multicenter phase II trial of regorafenib in patients with metastatic and/or unresectable GI stromal tumor after failure of standard tyrosine kinase inhibitor therapy. Ann Oncol 2016; 27 (9): 1794–9
2. Miettinen M, Lasota J. Gastrointestinal stromal tumors-definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 2001; 438 (1): 1.
3. Corless CL, Schroeder A, Griffith D et al. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23 (23): 5357.
4. Gill AJ, Chou A, Vilain R et al. Immunohistochemistry for SDHB Divides Gastrointestinal Stromal Tumors (GISTs) into 2 Distinct Types. Am J Surg Pathol 2010; 34 (34): 636–44.
5. Boikos SA, Pappo AS, Killian JK et al. Molecular subtypes of KIT/PDGFRA wild-type gastrointestinal stromal tumors: a report from the National Institutes of Health Gastrointestinal Stromal Tumor Clinic. JAMA Oncol 2016; 2 (7): 922–8.
6. Miettinen M, Lasota J. Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) – a review. Int J Biochem Cell Biology 2014; 53: 514–9.
7. The Nobile Prize in Phisiology or Medicine 1931. www.nobelprize.org/prizes/medicine/1931
8. Selak MA, Armour SM et al. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-prolyl hydroxylase. Cancer Сell 2005; 7: 77–85.
9. Pozza ED, Dando I, Pacchiana R et al. Regulation of succinate dehydrogenase and role of succinate in cancer. Semin Cell Dev Biol 2019: S1084-9521(19)30056-4.
10. Eijkelenkamp K, Osinga T, Links T. Clinical implications of the oncometabolite succinate in SDHx-mutation carriers. Clin Genetics 2020; 97: 39–53.
11. Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266 (1): 43–52.
12. Haller F, Moskalev EA, Faucz FR. Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. Endocr Relat Cancer 2014; 21 (4): 567–77. DOI: 10.1530/ERC-14-0254
13. Zhang L, Thomas C et al. Gastric Stromal Tumors in Carney Triad Are Different Clinically, Pathologically, and Behaviorally From Sporadic Gastric Gastrointestinal Stromal Tumors: Findings in 104 Cases. Am J Surg Pathol 2010; 34 (1): 53–64.
14. Ben-Ami E, Barysauskas CM, von Mehren M et al. Long-term follow-up results of the multicenter phase II trial of regorafenib in patients with metastatic and/or unresectable GI stromal tumor after failure of standard tyrosine kinase inhibitor therapy. Ann Oncol 2016; 27 (9): 1794–9
2. Miettinen M, Lasota J. Gastrointestinal stromal tumors-definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 2001; 438 (1): 1.
3. Corless CL, Schroeder A, Griffith D et al. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23 (23): 5357.
4. Gill AJ, Chou A, Vilain R et al. Immunohistochemistry for SDHB Divides Gastrointestinal Stromal Tumors (GISTs) into 2 Distinct Types. Am J Surg Pathol 2010; 34 (34): 636–44.
5. Boikos SA, Pappo AS, Killian JK et al. Molecular subtypes of KIT/PDGFRA wild-type gastrointestinal stromal tumors: a report from the National Institutes of Health Gastrointestinal Stromal Tumor Clinic. JAMA Oncol 2016; 2 (7): 922–8.
6. Miettinen M, Lasota J. Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) – a review. Int J Biochem Cell Biology 2014; 53: 514–9.
7. The Nobile Prize in Phisiology or Medicine 1931. www.nobelprize.org/prizes/medicine/1931
8. Selak MA, Armour SM et al. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-prolyl hydroxylase. Cancer Сell 2005; 7: 77–85.
9. Pozza ED, Dando I, Pacchiana R et al. Regulation of succinate dehydrogenase and role of succinate in cancer. Semin Cell Dev Biol 2019: S1084-9521(19)30056-4.
10. Eijkelenkamp K, Osinga T, Links T. Clinical implications of the oncometabolite succinate in SDHx-mutation carriers. Clin Genetics 2020; 97: 39–53.
11. Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266 (1): 43–52.
12. Haller F, Moskalev EA, Faucz FR. Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. Endocr Relat Cancer 2014; 21 (4): 567–77. DOI: 10.1530/ERC-14-0254
13. Zhang L, Thomas C et al. Gastric Stromal Tumors in Carney Triad Are Different Clinically, Pathologically, and Behaviorally From Sporadic Gastric Gastrointestinal Stromal Tumors: Findings in 104 Cases. Am J Surg Pathol 2010; 34 (1): 53–64.
14. Ben-Ami E, Barysauskas CM, von Mehren M et al. Long-term follow-up results of the multicenter phase II trial of regorafenib in patients with metastatic and/or unresectable GI stromal tumor after failure of standard tyrosine kinase inhibitor therapy. Ann Oncol 2016; 27 (9): 1794–9
________________________________________________
2. Miettinen M, Lasota J. Gastrointestinal stromal tumors-definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 2001; 438 (1): 1.
3. Corless CL, Schroeder A, Griffith D et al. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23 (23): 5357.
4. Gill AJ, Chou A, Vilain R et al. Immunohistochemistry for SDHB Divides Gastrointestinal Stromal Tumors (GISTs) into 2 Distinct Types. Am J Surg Pathol 2010; 34 (34): 636–44.
5. Boikos SA, Pappo AS, Killian JK et al. Molecular subtypes of KIT/PDGFRA wild-type gastrointestinal stromal tumors: a report from the National Institutes of Health Gastrointestinal Stromal Tumor Clinic. JAMA Oncol 2016; 2 (7): 922–8.
6. Miettinen M, Lasota J. Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) – a review. Int J Biochem Cell Biology 2014; 53: 514–9.
7. The Nobile Prize in Phisiology or Medicine 1931. www.nobelprize.org/prizes/medicine/1931
8. Selak MA, Armour SM et al. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-prolyl hydroxylase. Cancer Сell 2005; 7: 77–85.
9. Pozza ED, Dando I, Pacchiana R et al. Regulation of succinate dehydrogenase and role of succinate in cancer. Semin Cell Dev Biol 2019: S1084-9521(19)30056-4.
10. Eijkelenkamp K, Osinga T, Links T. Clinical implications of the oncometabolite succinate in SDHx-mutation carriers. Clin Genetics 2020; 97: 39–53.
11. Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266 (1): 43–52.
12. Haller F, Moskalev EA, Faucz FR. Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. Endocr Relat Cancer 2014; 21 (4): 567–77. DOI: 10.1530/ERC-14-0254
13. Zhang L, Thomas C et al. Gastric Stromal Tumors in Carney Triad Are Different Clinically, Pathologically, and Behaviorally From Sporadic Gastric Gastrointestinal Stromal Tumors: Findings in 104 Cases. Am J Surg Pathol 2010; 34 (1): 53–64.
14. Ben-Ami E, Barysauskas CM, von Mehren M et al. Long-term follow-up results of the multicenter phase II trial of regorafenib in patients with metastatic and/or unresectable GI stromal tumor after failure of standard tyrosine kinase inhibitor therapy. Ann Oncol 2016; 27 (9): 1794–9
Авторы
Д.А. Филоненко*, А.А. Мещеряков, П.П. Архири, М.П. Никулин, Е.С. Колобанова
ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина» Минздрава России, Москва, Россия
*shubina_d@mail.ru
Blokhin National Medical Research Center of Oncology, Moscow, Russia
*shubina_d@mail.ru
ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина» Минздрава России, Москва, Россия
*shubina_d@mail.ru
________________________________________________
Blokhin National Medical Research Center of Oncology, Moscow, Russia
*shubina_d@mail.ru
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