Gen Füzyonlar ve Tiroid Kanseri
Year 2024,
Volume: 5 Issue: 3, 85 - 92, 31.07.2024
Burcu Çelikel
,
Nihat Aksakal
,
Semen Önder
,
Gülçin Yegen
,
Ümit Zeybek
Abstract
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.
References
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cancers in 185 countries. CA Cancer J Clin. 2024; 1-35. doi:10.3322/
caac.21834.
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388 (10061): 2783-2795. doi: 10.1016/S01406736(16)30172-6
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USA: Lippincott, Williams & Wilkins; 2001. p. 382-402.
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10.1016/s0304-3835(00)00697-2.
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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,
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0590-1.
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10.1158/2159-8290.CD-14-0765.
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A., Ou S.-H.I., Shaw A.T., Mino-Kenudson M., Drilon A. Clinicopathologic
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Year 2024,
Volume: 5 Issue: 3, 85 - 92, 31.07.2024
Burcu Çelikel
,
Nihat Aksakal
,
Semen Önder
,
Gülçin Yegen
,
Ümit Zeybek
References
- 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.
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