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Gen Füzyonlar ve Tiroid Kanseri

Yıl 2024, Cilt: 5 Sayı: 3, 85 - 92, 31.07.2024

Öz

Tiroid kanseri, endokrin maligniteler arasında en yaygın
görülenidir. Tiroid kanserlerine özellikle tiroid nodülü
tespiti ve örneklemenin daha sıklıkla uygulandığı gelişmiş
ve gelişmekte olan ülkelerde daha çok rastlanmaktadır.
Çoğu tiroid kanseri yavaş bir klinik tablosu sergilemesine
rağmen, artış gösteren insidansı tümör hücrelerinde bulunan onkojenik değişikliklerin araştırılmasını ve onları
hedefleyen tedavileri de beraberinde getirmiştir. Birçok
kanserde driver veya passenger mutasyonları olarak bilinen füzyon genleri, iki ya da daha fazla genin parçalarının birleşmesine yol açan kimerik genlerdir. Kromozomal
yeniden düzenlemelerin veya anormal transkripsiyonun
sonucu olarak oluşabilirler. Füzyon genleri, tiroid kanseri
ve çeşitli kanser türlerinin tanısı ve hedef ilaç belirlenebilmesi için yararlı biyobelirteçler olarak kabul edilmiş ve
tespit edilen değişiklikler klinikte hastaların hedefli tedavileri için uygulamaya alınmıştır. Gen füzyonu pozitif olan
hastaya uygun tirozin kinaz inhibitörü (TKI) ilaç tedavisi
başlanabilmektedir. Günümüzde çok sayıda TKI ajan küçük hücre dışı akciğer kanseri, tiroid kanseri ve melanoma
gibi çeşitli kanserlerde kullanılmaktadır. Hastalar böylelikle hedefli tedaviden yararlanabilmekte ve progresyonsuz sağkalım ve kaliteli yaşam süreci elde edilebilmektedir.
Bu derlemede tiroid kanserinde tespit edilen gen füzyonlarının açıklanması ve tirozin kinaz hedefli tedavilerin
öneminin vurgulanması hedeflenmiştir.

Kaynakça

  • 1.Bray F , Laversanne M , Sung H , et al. Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2024; 1-35. doi:10.3322/ caac.21834.
  • 2. Cabanillas ME, McFadden DG, Durante C. Thyroid cancer. Lancet 2016; 388 (10061): 2783-2795. doi: 10.1016/S01406736(16)30172-6
  • 3. Mazzaferri EL. Thyroid cancer. In Becker KL (editor). Principles and Practice of Endocrinology and Metabolism, 3rd Ed. Philadelphia, PA, USA: Lippincott, Williams & Wilkins; 2001. p. 382-402.
  • 4. Gimm O.Thyroid Cancer. Cancer Lett 2001 Feb 26;163(2):143-56. doi: 10.1016/s0304-3835(00)00697-2.
  • 5. Melmed S et al. Williams textbook of endocrinology.In: Schlumberger JM, Filetti S, Hay DL. Nontoxicdiffuse and nodular goiter and thyroid neoplasia. Saunders Elsevier, 12th edition, Philadelphia 2011.p. 440-475. doi:10.1016/B978-1-4377-0324-5.00014-6,
  • 6. Fernandes, J.K., Day, T.A., Richardson, M.S. et al. Overview of the management of differentiated thyroid cancer. Curr. Treat. Options in Oncol. , Oncology 2005, 6:47–57. doi.org/10.1007/s11864-005-0012-3
  • 7. Gosnell JE, Clark HO. Surgical approaches to thyroid tumors. . Endocrinol Metab Clin N Am 2008;37(2):437-455. doi:10.1016/j.ecl.2008.02.002
  • 8. Schlumberger M, Sherman SI. Approach to the patient with advanced differentiated thyroid cancer. European Journal of Endocrinology 2012;166:5-11.doi: 10.1530/EJE-11-0631.
  • 9. Sherman IS. Targeted therapies for thyroid tumors. Mod Pathol 2011;24:44-52. doi:10.1038/modpathol.2010.165.
  • 10. Burinicardi F Charles et al. Schwartz’s principels of surgery. In: Lal G, Clark HO. Thyroid, parathyroid, adrenal. McGraw Hill Company, Ninth Edition, Newyork 2010:1343-1408.
  • 11. Tural, S., Tekcan, A., Elbistan, M., & Kara, N. Tiroit kanseri genetiği. J. Exp. Clin. Med., 2013; 30: 55-62. doi: 10.5835/jecm.omu.30.s1.008
  • 12. Castellone MD, Santoro M. Dysregulated RET signaling in thyroid cancer. Endocrinol Metab Clin North Am. 2008 Jun;37(2):363-74. DOI: 10.1016/j.ecl.2008.02.006
  • 13. Tallini G, Asa SL. RET oncogene activation in papillary thyroid carcinoma. Adv Anat Pathol 2001; 8: 345-54. doi: 10.1097/00125480-200111000-00005
  • 14.Santoro M, Dathan NA, Berlingieri MT, Bongarzone I, Paulin C, Grieco M, Pierotti MA, Vecchio G, Fusco A. Molecular characterization of RET/PTC3; a novel rearranged version of the RETproto-oncogene in a human thyroid papillary carcinoma. Oncogene. 1994 Feb;9(2):509-16. doi:10.1385/ EP:13:1:03
  • 15. Fugazzola L, Pilotti S, Pinchera A, Vorontsova TV,Mondellini P, Bongarzone I, Greco A, Astakhova L,Butti MG, Demidchik EP, et al. Oncogenic rearrangements of the RET proto-oncogene in papillary thyroid carcinomas from children exposed to the Chernobyl nuclear accident. Cancer Res. 1995 Dec 1;55(23):5617-20. doi: 10.1016/s0300-9084(97)82012-3.
  • 16. Elisei R, Romei C, Vorontsova T, Cosci B, Veremeychik V, Kuchinskaya E, Basolo F, Demidchik EP, Miccoli P, Pinchera A, Pacini F. RET/PTC rearrangements in thyroid nodules: studies in irradiated and not irradiated, malignant and benign thyroid lesions in children and adults. J Clin Endocrinol Metab. 2001 Jul;86(7):3211-6. doi: 10.1210/jcem.86.7.7678.
  • 17. Powell, D.J.Jr., Russell, J., Nibu, K., Li, G., Rhee, E., Liao, M., Goldstein, M., Keane, W.M., Santoro, M., Fusco, A., Rothstein, J.L. The RET/PTC3 oncogene: Metastatic solid-type papillary carcinomas in murine thyroids. Cancer. Res. 1998; 58: 5523-5528.
  • 18. Nikiforov YE, Rowland JM, Bove KE, Monforte-Munoz H, Fagin JA. Distinct pattern of ret oncogene rearrangements in morphological variants of radiation-induced and sporadic thyroid papillary carcinomas in children. Cancer Res. 1997 May 1;57(9):1690-4.
  • 19. Zhang, T., Lu, Y., Ye, Q., Zhang, M., Zheng, L., Yin, X., ... & Su, X. An evaluation and recommendation of the optimal methodologies to detect RET gene rearrangements in papillary thyroid carcinoma. Genes, Chromosomes and Cancer 2015; 54(3): 168-176.doi: 10.1002/gcc.22229
  • 20. Park, S. J., Kang, Y. E., Kim, J. H., Park, J. L., Kim, S. K., Baek, S. W., ... & Kim, S. Y. (2022). Transcriptomic analysis of papillary thyroid cancer: a focus on immune-subtyping, oncogenic fusion, and recurrence. Clin Exp Otorhinolaryngol. 2022 May; 15(2): 183–193. doi: 10.21053/ceo.2021.02215
  • 21. Viola, D., Giani, C., Mazzeo, S., Ugolini, C., Ciampi, R., Molinaro, E., ... & Elisei,. KIF5B/RET rearrangement in a carcinoma of the thyroid gland: a case report of a fatal disease. The Journal of Clinical Endocrinology & Metabolism 2017; 102(9), 3091-3096.doi: 10.1210/jc.2017-00304.
  • 22. Staubitz, J. I., Musholt, T. J., Schad, A., Springer, E., Lang, H., Rajalingam, K., ... & Hartmann, N. ANKRD26-RET-a novel gene fusion involving RET in papillary thyroid carcinoma. Cancer Genet 2019 Oct:238:10-17.doi: 10.1016/j.cancergen.2019.07.002.
  • 23. Sanger Institute. Catalogue of somatic mutations in cancer. http://cancer. sanger.ac.uk/cancergenome/projects/cosmic/ Accessed March 15, 2014.
  • 24. Parimi, V., Tolba, K., Danziger, N., Kuang, Z., Sun, D., Lin, D. I., ... & Huang, R. S. Genomic landscape of 891 RET fusions detected across diverse solid tumor types. NPJ Precision Oncology, 7(1), 10. NPJ Precis Oncol 2023 Jan 23;7(1):10.doi: 10.1038/s41698-023-00347-2.
  • 25. Grubbs, E. G., Ng, P. K. S., Bui, J., Busaidy, N. L., Chen, K., Lee, J. E., ... & Cote, G. J. RET fusion as a novel driver of medullary thyroid carcinoma. JClin Endocrinol Metab. 2015 Mar;100(3):788-93. doi: 10.1210/jc.2014-4153.
  • 26. Kummar S., Lassen U. TRK inhibition: a new tumor-agnostic treatment strategy. . Target Oncol. 2018 Oct;13(5):545-556. doi: 10.1007/s11523-018- 0590-1.
  • 27. Vaishnavi A., Le A.T., Doebele R.C. TRKing down an old oncogene in a new era of targeted therapy. Cancer Discov. 2015 Jan;5(1):25-34. doi: 10.1158/2159-8290.CD-14-0765.
  • 28. Farago A., Taylor M., Doebele R., Zhu V., Kummar S., Spira A., Boyle T., Haura E., Arcila M., Benayed R., Aisner D., Horick N., Lennerz J., Le L., Iafrate A., Ou S.-H.I., Shaw A.T., Mino-Kenudson M., Drilon A. Clinicopathologic features of non–small-cell lung cancer harboring an NTRK gene fusion. JCO Precis Oncol. 2018:2018:PO.18.00037.doi: 10.1200/PO.18.00037. Epub 2018 Jul 23.
  • 29. Hsiao, S. J., Zehir, A., Sireci, A. N., & Aisner, D. L. Detection of tumor NTRK gene fusions to identify patients who may benefit from tyrosine kinase (TRK) inhibitor therapy. The Journal of Molecular Diagnostics, 21(4), 553- 571.. J Mol Diagn. 2019 Jul;21(4):553-571.doi: 10.1016/j.jmoldx.2019.03.008.
  • 30. Francis G.L., Waguespack S.G., Bauer A.J., Angelos P., Benvenga S., Cerutti J.M., Dinauer C.A., Hamilton J., Hay I.D., Luster M., Parisi M.T., Rachmiel M., Thompson G.B., Yamashita S., American Thyroid Association Guidelines Task Force Management guidelines for children with thyroid nodules and differentiated thyroid cancer. Thyroid. 2015 Jul;25(7):716-59.. doi: 10.1089/thy.2014.0460.
  • 31. Prasad M.L., Vyas M., Horne M.J., Virk R.K., Morotti R., Liu Z., Tallini G., Nikiforova M.N., Christison-Lagay E.R., Udelsman R., Dinauer C.A., Nikiforov Y.E. NTRK fusion oncogenes in pediatric papillary thyroid carcinoma in northeast United States. Cancer. 2016 Apr 1;122(7):1097-107.doi: 10.1002/cncr.29887.
  • 32. Gatalica Z., Xiu J., Swensen J., Vranic S. Molecular characterization of cancers with NTRK gene fusions. Mod Pathol. 2019 Jan;32(1):147-153. doi: 10.1038/s41379-018-0118-3.
  • 33. Miranda, C., Minoletti, F., Greco, A., Sozzi, G., Pierotti, M.A. Refined localization of the human TPR gene to chromosome 1q25 by in situ hybridization. Genomics. 1994 Oct;23(3):714-5. doi: 10.1006/geno.1994.1566.
  • 34. Musholt, T.J., Musholt, P.B., Khaladj, N., Schulz, D., Scheumann, G.F., Klempnauer, J., 2000. Prognostic significance of RET and NTRK1 rear¬rangements in sporadic papillary thyroid carcinoma. Surgery. 128, 984-993. Surgery. 2000 Dec;128(6):984-93.doi: 10.1067/msy.2000.110845.
  • 35. Cassol, C. A. & Asa, S. L. Molecular pathology of thyroid cancer. Diagn Histopathol 2011;17: 124–139.doi: 10.1016/j.mpdhp.2010.12.006.
  • 36. Drilon A., Laetsch T.W., Kummar S., DuBois S.G., Lassen U.N., Demetri G.D. Efficacy of larotrectinib in TRK fusion–positive cancers in adults and children. N Engl J Med. 2018;378:731–739. doi: 10.1056/NEJMoa1714448.
  • 37. Seymen PN, Gumuslu E. Determination of ALK Gene Rearrangment with FISH Method in Non Small Cell Lung Carcinoma. JAREM. 2019 Mar18;9(2):66-70. dOI:10.5152/jarem.2019.2211
  • 38. Ji, J. H., Oh, Y. L., Hong, M., Yun, J. W., Lee, H. W., Kim, D., ... & Sun, J. M. Identification of driving ALK fusion genes and genomic landscape of medullary thyroid cancer. PLoS Genetic. 2015 Aug 21;11(8):e1005467. doi: 10.1371/journal.pgen.1005467.
  • 39. Wong DW, Leung EL, Wong SK, Tin VP, Sihoe AD, Cheng LC, et al. A novel KIF5B-ALK variant in nonsmall cell lung cancer. Cancer. 2011;117: 2709–2718. doi:10.1002/cncr.25843.
  • 40. Ou SH, Klempner SJ, Greenbowe JR, Azada M, Schrock AB, Ali SM, et al. Identification of a novel HIP1-ALK fusion variant in Non-Small-Cell Lung Cancer (NSCLC) and discovery of ALK I1171 (I1171N/S) mutations in two ALK-rearranged NSCLC patients with resistance to Alectinib. J Thorac Oncol. 2014 Dec;9(12):1821-5. doi: 10.1097/JTO.0000000000000368.
  • 41. Kerr KM, López-Ríos F. Precision medicine in NSCLC and pathology: how does ALK fit in the pathway?. Ann Oncol. 2016 Sep:27 Suppl 3:iii16-iii24.doi: 10.1093/annonc/mdw302.
  • 42. Bergethon K, Shaw AT, OU SH. ROS-1 rearrangements define a unique molecular class of lung cancers. J Clin Oncol. 2012 Mar 10;30(8):863-70. doi: 10.1200/JCO.2011.35.6345.
  • 43. Bubendorf L, Büttner R, Al-Dayel F, et al. Testing for ROS-1 in nonsmall cell lung cancer: a review with recommendations. Virchows Arch. 2016 Nov;469(5):489-503.doi: 10.1007/s00428-016-2000-3.
  • 44. Ritterhouse LL, Wirth LJ, Randolph GW, et al.: ROS1 rearrangement in thyroid cancer. Thyroid. 2016 Jun;26(6):794-7.doi: 10.1089/ thy.2016.0101.
  • 45. Drilon A, Siena S, Ou HI, ve diğerleri: Çok hedefli pan-TRK, ROS1 ve ALK inhibitörü entrektinib'in (RXDX-101) güvenliği ve antitümör aktivitesi: İki faz 1 denemesinden elde edilen birleşik sonuçlar (ALKA372-001) ve STARTRK-1). Cancer Discov. 2017 Apr;7(4):400-409.doi: 10.1158/2159-8290.CD-16-1237.
  • 46. Shaw AT, Ou SH, Bang YJ, et al.: Crizotinib in ROS1-rearranged nonsmall-cell lung cancer. Engl J Med. 2014 Nov 20;371(21):1963-71. doi: 10.1056/NEJMoa1406766.
  • 47. Davies KD, Le AT, Theodoro MF, et al.Identifying and targeting ROS1 gene fusions in non-small cell lung cancer. Clin Cancer Res. 2012 Sep 1;18(17):4570-9.doi: 10.1158/1078-0432.CCR-12-0550.
  • 48. Nikiforova MN, Lynch RA, Biddinger PW, Alexander EK, DornGW 2nd, Tallini G, et al. RAS point mutations and PAX8-PPARgamma rearrangement in thyroid tumors: evidence for distinctmolecular pathways in thyroid follicular carcinoma. J Clin Endocrinol Metab. 2003 May;88(5):2318-26. doi: 10.1210/jc.2002-021907.
  • 49. French, C.A., Alexander, E.K., Cibas, E.S., Nose, V., Laguette, J., Faquin, W., Garber, J., Moore, F. Jr., Fletcher, J.A., Larsen, P.R., Kroll, T.G., 2003. Genetic and biological subgroups of low-stage follicular thyroid cancer. Am J Pathol. 2003 Apr;162(4):1053-60. doi: 10.1016/S0002- 9440(10)63902-8.
Toplam 49 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Yardımcı Sağlık ve Rehabilitasyon Bilimi (Diğer)
Bölüm Derlemeler
Yazarlar

Burcu Çelikel

Nihat Aksakal

Semen Önder

Gülçin Yegen

Ümit Zeybek

Yayımlanma Tarihi 31 Temmuz 2024
Gönderilme Tarihi 7 Temmuz 2024
Kabul Tarihi 26 Temmuz 2024
Yayımlandığı Sayı Yıl 2024 Cilt: 5 Sayı: 3

Kaynak Göster

AMA Çelikel B, Aksakal N, Önder S, Yegen G, Zeybek Ü. Gen Füzyonlar ve Tiroid Kanseri. JMS. Temmuz 2024;5(3):85-92.