Keywords
How to Cite
Abstract
In this review presented the most relevant scientific information on the molecular and genetic features of gastrointestinal stromal tumors (GISTs). GISTs is a heterogeneous group of mesenchymal neoplasms of the gastrointestinal tract, which according to modern ideas originate from the interstitial cells of Cajal. It was found that this disease is largely somatic mutations: in the overwhelming majority of cases, activating mutations in kit or PDGFRA genes that encode effector tyrosine kinases are found in tumor cells. Constitutive activation of these enzymes triggers a complex cascade of intracellular reactions, the result of which is the enhancement of cell proliferation and tumor growth. In the absence of the above-mentioned driver mutations, the GISTs is referred to as a “wild type”. The profile of mutations affects the aggressiveness of the GISTs flow and the sensitivity to target antitumor drugs. Thus, carrying out a mutational analysis in the case of a GISTs is of great prognostic significance.References
Scoggins C., eds. Gastrointestinal Stromal Tumors: Bench to Bedside.: Springer, 2017.
Mazur M., Clark H. Gastric stromal tumors: reappraisal of histogenesis // Am. J. Surg. Pathol. - 1983. - Т. 7. -№ 6. - P507-519.
Herrera G.A., Pinto de Moraes H., Grizzle W.E., Han S.G. Malignant small bowel neoplasm of enteric plexus derivation (plexosarcoma) - Light and electron microscopic study confirming the origin of the neoplasm // Dig. Dis. Sci. - 1984. - Т. 29. - № 3. - P. 275-284.
Herrera G.A., Cerezo L., Jones J.E., Sack J. et al. Gastrointestinal autonomic nerve tumors. "Plexosarcomas" // Arch. Pathol. Lab. Med. - 1989. - Т. 113. - № 8. - P. 846-853.
Sircar K., Hewlett B.R., Huizinga J.D., Chorneyko K. et al. Interstitial cells of Cajal as precursors of gastrointestinal stromal tumors // Am J. Surg. Pathol. - 1999. - Т. 23. - № 4. - P. 377-389.
Kindblom L.G., Remotti H.E., Aldenborg F., Meis-Kindblom J.M. Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal // Am. J. Pathol. -1998. - Т 152. - № 5. P. 1259-1269
Miettinen M., Sarlomo-Rikala M., Lasota J. Gastrointestinal stromal tumors: recent advances in understanding of their biology // Hum. Pathol. - 1999. - Т. 30. - № 10. - P. 1213-1220
Fletcher C.D., Berman J.J., Corless C., Gorstein F. et al. Diagnosis of gastrointestinal stromal tumors: A consensus approach // Hum. Pathol. - 2002. - Т. 33. - № 5. - P. 459-465
Steigen S.E., Eide T.J. Gastrointestinal stromal tumors (GISTs): a review // Acta pathologica, microbiologica et immunologica Scandinavica. - 2009. - T. 117. - № 2. - P. 73-86. - DOI: 10.1111/j.1600-0463.2008.00020.x
Tran T, Davila J.A., El-Serag H.B. The epidemiology of malignant gastrointestinal stromal tumors: An analysis of 1,458 cases from 1992 to 2000 // Am. J. Gastroenterol. - 2005. - Т 100. - № 1. - P 162-168. - DOI: 10.1111/j.1572-0241.2005.40709.x
Perez E.A., Livingstone A.S., Franceschi D., Rocha-Lima C. et al. Current incidence and outcomes of gastrointestinal mesenchymal tumors including gastrointestinal stromal tumors // J. Am. Coll. Surg. - 2006. - Т. 202. - № 4. - P. 623-629. - DOI: 10.1016/j.jamcoll-surg.2006.01.002
Nilsson B., Bumming P., Meis-Kindblom J.M., 0dn A. et al. Gastrointestinal stromal tumors: the incidence, prevalence, clinical course, and prognostication in the preimatinib mesylate era- a population-based study in western Sweden // Cancer. - 2005. - Т 103. -P 821-829. - DOI: 10.1002/cncr.20862
Mucciarini C., Rossi G., Bertolini F, Valli R. et al. Incidence and clinicopathologic features of gastrointestinal stromal tumors. A population-based study // BMC Cancer. 2007. - Т. 7. - P 230. - DOI: 10.1186/1471-2407-7-230
Monges G., Bisot-Locard S., Blay J.Y, Bouvier A.M. et al. The estimated incidence of gastrointestinal stromal tumors in France. Results of PR0GIST study conducted among pathologists // Bull. Cancer. - 2010. - Т 97. -№ 3. - P. 16-22. - DOI: 10.1684/bdc.2010.1041
Nishida T., Blay J.Y, Hirota S., Kitagawa Y et al. The standard diagnosis, treatment, and follow-up of gastrointestinal stromal tumors based on guidelines // Gastric Cancer. - 2016. - Т. 19. - № 1. - P 3-14. - DOI: 10.1007/s10120-015-0526-8
Miettinen M., Sobin L.H., Lasota J. Gastrointestinal stromal tumors of the stomach: a clinicopathologic, immu-nohistochemical, and molecular genetic study of 1765 cases with long-term follow-up // Am. J. Surg. Pathol. 2005. - Т 29. - № 1. - P52-68
DeMatteo R.P, Lewis J.J., Leung D., Mudan S.S. et al. Two hundred gastrointestinal stromal tumors: recurrence patterns and prognostic factors for survival // Ann. Surg. - 2000. - Т. 231. - № 1. - P. 51-58.
Miettinen M., Furlong M., Sarlomo-Rikala M., Burke A. et al. Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the rectum and anus: a clinicopathologic, immunohistochemical, and molecular genetic study of 144 cases // Am. J. Surg. Pathol. -2001. - Т. 25. - № 9. - P. 1121-1133.
Miettinen M., Lasota J. Gastrointestinal stromal tumors: Pathology and prognosis at different sites // Semin. Diagn. Pathol. - 2006. - Т 23. - № 2. - P 70-83.
Hirota S., Isozaki K., Moriyama Y, Hashimoto K. et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors // Science. - 1998. - Т. 279. - № 5350. - P. 577-580.
Yamamoto H., 0da Y Gastrointestinal stromal tumor: Recent advances in pathology and genetics // Pathol. Int. - 2015. - Т. 65. - № 1. - P. 9-18. - DOI: 10.1111/pin.12230
Rubin B.P., Singer S., Tsao C., Duensing A. et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors // Cancer Res. - 2001. - Т. 61. -№ 22. - P. 8118-8121.
Cho S., Kitadai Y., Yoshida S., Tanaka S. et al. Deletion of the KIT gene is associated with liver metastasis and poor prognosis in patients with gastrointestinal stromal tumor in the stomach // Int. J. Oncol. - 2006. - Т. 28. - № 6. - P. 1361-1367.
Andersson J., Bumming P., Meis-Kindblom J.M., Sihto H. et al. Gastrointestinal Stromal Tumors With KIT Exon 11 Deletions Are Associated With Poor Prognosis // Gastroenterology. - 2006. -Т. 130. - № 6. - P. 1573-1581. -. DOI: 10.1053/j.gastro.2006.01.043
Lux M.L., Rubin B.P., Biase T.L., Chen C.J. et al. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors // Am. J. Pathol. - 2000. - Т. 156. - № 3. - P.791-795. - DOI: 10.1016/S0002-9440(10)64946-2
Lasota J., Corless C.L., Heinrich M.C., Debiec-Rychter M. et al. Clinicopathologic Profile of Gastrointestinal Stromal Tumors (GISTs) with Primary KIT Exon 13 or Exon 17 Mutations: A Multicenter Study on 54 Cases // Mod Pathol. - 2008. - Т. 21. - № 4. - P. 476-484. -. DOI: 10.1038/modpathol.2008.2
Huss s., Kénstlinger H., Wardelmann e., Kleine M.A. et al. A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIt exon 8 (p.D419del) // Mod Pathol. - 2013. - Т. 26. - No 7. - P. 1004-1012. -. DOI: 10.1038/modpathol.2013.47
Heinrich M.C., Corless C.L., Duensing A., McGreevey L. et al. PDGFRA activating mutations in gastrointestinal stromal tumors // Science. - 2003. - Т. 299. - № 5607. - P. 708-710. - DOI: 10.1126/science.1079666
Medeiros F., Corless C.L., Duensing A., Hornick J.L. et al. KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications // Am. J. Surg. Pathol. - 2004. - Т. 28. - № 7. - P. 889-894.
Farag S., Somaiah N., Choi H., Heeres B. et al. Clinical characteristics and treatment outcome in a large multicentre observational cohort of PDGFRA exon 18 mutated gastrointestinal stromal tumour patients // Eur. J. Cancer. - 2017. - Т. 76. - P. 76-83. -DOI: 10.1016/j.ejca.2017.02.007
Nishida T., Hirota S., Taniguchi M., Hashimoto K. et al. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene // Nat Genet. - 1998. - Т. 19. - P. 323-324. - doi:10.1038/1209
Corless C.L. Gastrointestinal stromal tumors: what do we know now? // Mod. Pathol. - 2014. - Т. 27 - Suppl 1. - № S1. -P. S1-16. - DOI: 10.1038/mod-pathol.2013.173
Gao J., Li J., Li Y., Li Z. et al. Intratumoral KIT mutational heterogeneity and recurrent KIT/ PDGFRA mutations in KIT/PDGFRA wild-type gastrointestinal stromal tumors // Oncotarget. - 2016. - Т. 7. - № 21. - P. 3024130249. - DOI: 10.18632/oncotarget.7148
Gottlieb E., Tomlinson I.P.M. Mitochondrial tumour suppressors: a genetic and biochemical update // Nat. Rev. Cancer. - 2005. - Т. 5. - № 11. - P. 857-866. - DOI: 10.1038/nrc1737
Killian J.K., Kim S.Y., Miettinen M., Smith C. et al. Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor // Cancer Discov. -2013. - Т. 3. - № 6. - P. 648657. - DOI: 10.1158/2159-8290.cd-13-0092
Mason E.F., Hornick J.L. Succinate dehydrogenase deficiency is associated with decreased 5-hydroxymethyl-cytosine production in gastrointestinal stromal tumors: implications for mechanisms of tumorigenesis // Mod. Pathol. - 2013. - Т. 26. - № 11. - P. 1492-1497. -. DOI: 10.1038/modpathol.2013.86
Gill A.J. Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia // Pathology. -2012. - Т. 44. - № 4. - P. 285-292. - DOI: 10.1097/PAT.0b013e3283539932
Lasota J., Wang Z., Kim S.Y., Helman L. et al. Expression of the receptor for type i insulin-like growth factor (IGF1R) in gastrointestinal stromal tumors: an immu-nohistochemical study of 1078 cases with diagnostic and therapeutic implications // Am. J. Surg. Pathol. - 2013. - Т. 37. - № 1. - P. 114-119. - DOI: 10.1097/PAS.0b013e3182613c86
Doyle L.A., Nelson D., Heinrich M.C., Corless C.L. et al. Loss of succinate dehydrogenase subunit B. (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: A comprehensive genotype-phenotype correlation study // Histopathology. - 2012. - Т. 61. - № 5. - P. 801-809. - DOI: 10.1111/j.1365-2559.2012.04300.x
Miettinen M., Lasota J., Sobin L.H. Gastrointestinal stromal tumors of the stomach in children and young adults: A clinicopathologic, immunohistochemical, and molecular genetic study of 44 cases with long-term follow-up and review of the literature // Am J. surg. Pathol. - 2005. - Т. 29. - P. 1373-1381
Rege T.A., Wagner A.J., Corless C.L., Heinrich M.C. et al. «Pediatric-type» gastrointestinal stromal tumors in adults: distinctive histology predicts genotype and clinical behavior // Am J. Surg. Pathol. - 2011. - Т. 35. - № 4. - P. 495-504. - DOI: 10.1097/PAS.0b013e31820e5f7d
Miettinen M., Lasota J. Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - A review // Int. J. Biochem. Cell Biol. - 2014. - Т. 53. - P. 514-519. - DOI: 10.1016/j.biocel.2014.05.033
Carney J.A. The triad of gastric epithelioid leiomyosarcoma, functioning extra-adrenal paraganglioma, and pulmonary chondroma // Cancer. - 1979. - T. 43. - P. 374-382.
Matyakhina L., Bei T.A., McWhinney S.R., Pasini B. et al. Genetics of carney triad: Recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors // J. Clin. Endocrinol. Metab. - 2007. - Т. 92. - № 8. - P. 2938-2943. - DOI: 10.1210/jc.2007-0797
Haller F., Moskalev E.A., Faucz F.R., BarthelmelS S. et al. Aberrant DNA hypermethylation of SDHC: A novel mechanism of tumor development in Carney triad // Endocr. Relat. Cancer. - 2014. - Т. 21. - № 4. - P. 567577. - DOI: 10.1530/ERC-14-0254
Carney J.A., Stratakis C.A. Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad // Am. J. Med. Genet. - 2002. - Т. 108. - № 2. -P. 132-139.
Pasini B., McWhinney S.R., Bei T, Matyakhina L. et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD // Eur. J. Hum Genet. - 2008. - Т. 16. - P. 79-88. - DOI: 10.1038/sj.ejhg.5201904
Miettinen M., Wang Z.F., Sarlomo-Rikala M., Osuch C. et al. Succinate dehydrogenase-deficient GISTs: a clinico-pathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age // Am J. Surg. Pathol. - 2011. - Т. 35. - № 11. - P. 1712-1721. - DOI: 10.1097/PAS.0b013e3182260752
Agaram N.P., Wong G.C., Guo T., Maki R.G. et al. Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors // Genes Chromosom. Cancer. - 2008. - Т. 47. - № 10. - P. 853859. - DOI: 10.1002/gcc.20589
Agaimy A., Terracciano L.M., Dirnhofer S., Tornillo L. et al. V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours // J. Clin. Pathol. - 2009. - Т. 62. - № 7. - P. 613-616. -DOI: 10.1136/jcp.2009.064550
Hostein I., Faur N., Primois C., Boury F. et al. BRAF mutation status in gastrointestinal stromal tumors // Am. J. Clin. Pathol. - 2010. - Т. 133. - № 1. - P. 141-148. -. DOI: 10.1309/AJCPPCKGA2QGBJ1R
Rossi S., Sbaraglia M., Dell'Orto M.C., Gasparotto D. et al. Concomitant KIT/BRAF and PDGFRA/BRAF mutations are rare events in gastrointestinal stromal tumors // Oncotarget. -2016. - Т. 7. - № 21. - P. 30109-18. - DOI: 10.18632/oncotarget.8768
Shi S.-S., Wang X., Xia Q.Y., Rao Q. et al. P16 overexpression in BRAF-mutated gastrointestinal stromal tumors // Expert Rev. Mol. Diagn. - 2017. - Т. 17. - № 2. - P. 195-201. - DOI: 10.1080/14737159.2017.1272413
Falchook G.S., Trent J.C., Heinrich M.C., Beadling C. et al. BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance // Oncotarget. - 2013. - Т. 4. - № 2. - P.310-315. - DOI: 10.18632/oncotarget.864
Wozniak A., Sciot R., Guillou L., Pauwels P. et al. Array CGH analysis in primary gastrointestinal stromal tumors: Cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status // Genes Chromosom. Cancer. - 2007. - Т. 46. - № 3. - P. 261-276. - DOI: 10.1002/gcc.20408
El-Rifai W., Sarlomo-Rikala M., Andersson L.C., Miettinen M. et al. High-resolution deletion mapping of chromosome 14 in stromal tumors of the gastrointestinal tract suggests two distinct tumor suppressor loci // Genes Chromosom. Cancer. - 2000. - Т. 27. - P. 387-391
Debiec-Rychter M., Lasota J., Sarlomo-Rikala M., Kordek R. et al. Chromosomal aberrations in malignant gastrointestinal stromal tumors: correlation with c-KIT gene mutation // Cancer Genet Cytogenet. - 2001. - Т. 128. - № 1. - P. 24-30
Patil D.T., Rubin B.P. Gastrointestinal stromal tumor: advances in diagnosis and management // Arch. Pathol. Lab. Med. - 2011. - Т. 135. - № 10. - P. 12981310. - DOI: 10.5858/arpa.2011-0022-RA
Miettinen M., Fetsch J.F., Sobin L.H., Lasota J. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases // Am J. Surg. Pathol. - 2006. - Т. 30. - № 1. - P. 90-96
Yamamoto H., Tobo T., Nakamori M., Imamura M. et al. Neurofibromatosis type 1-related gastrointestinal stromal tumors: A special reference to loss of heterozygosity at 14q and 22q // J. Cancer Res. Clin. Oncol. - 2009. - Т. 135. - № 6. - P. 791-798. - DOI: 10.1007/s00432-008-0514-z
Reichardt P., Demetri G.D., Gelderblom H., Rutkowski P. et al. Correlation of KIT and PDGFRA mutational status with clinical benefit in patients with gastrointestinal stromal tumor treated with sunitinib in a worldwide treatment-use trial // BMC Cancer. - 2016. - Т. 16. - № 1. - P. 22. - DOI: 10.1186/s12885-016-2051-5
Bannon A., Klug L.R., Corless C.L., Heinrich M.C. Using molecular diagnostic testing to personalize the treatment of patients with gastrointestinal stromal tumors // Expert. Rev. Mol. Diagn. - 2017. - Т. 17. - № 5. - P.445-457. - DOI: 10.1080/14737159.2017.1308826
Gao J., Tian Y, Li J., Sun N. et al. Secondary mutations of c-KIT contribute to acquired resistance to imatinib and decrease efficacy of sunitinib in Chinese patients with gastrointestinal stromal tumors // Med. Oncol. - 2013. - Т. 30. - № 2. - DOI: 10.1007/s12032-013-0522-y
Antonescu C.R., DeMatteo R.P. CCR 20th Anniversary Commentary: A Genetic Mechanism of Imatinib Resistance in Gastrointestinal Stromal Tumor-Where Are We a Decade Later? // Clin. Cancer Res. - 2015. - Т. 21. - № 15. - P. 3363-3365. - DOI: 10.1158/1078-0432.CCR-14-3120
Richter K.K., Dempster A., Tos A.P., Premkumar R. et al. Challenging differential diagnosis of a wild-type gastrointestinal stromal tumour (GIST) or rare reticular perineurioma of the stomach? The role for mutational analysis // N. Z. Med. J. - 2011. - Т. 124. - № 1331
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
© АННМО «Вопросы онкологии», Copyright (c) 2019