Роль BRAF-мутацій у визначенні прогнозу папілярного раку щитоподібної залози

В. Г. Хоперія

doi:10.24026/1818-1384.2(35).2011.86267

Автор(и)

В. Г. Хоперія Український науково-практичний центр ендокринної хірургії, трансплантації ендокринних органів і тканин МОЗ України, Київ, Україна

DOI:

https://doi.org/10.24026/1818-1384.2(35).2011.86267

Ключові слова:

BRAF mutation, thyroid cancer, prognosis, molecular marker

Анотація

The purpose of this multicenter study was to investigate the prognostic significance of BRAF mutations in patients with papillary thyroid carcinoma (PTC). According to the results of multiple analysis of our research, supplemented by various amounts of sample, mixed risk factors, different compositions of PTC subtypes confirmed BRAF mutation with high-risk subtypes of PTC and its role in the formation and progression of PTC. We also demonstrated the relationship of BRAF mutation recurrent PTC, even in patients at an early stage but with high tumor aggressiveness. Thus, BRAF mutation is a new prognostic marker, which complements the existing traditional prognostic factors of PTC used. Determination of BRAF mutations in thyroid aspirate needle units will conduct risk stratification of PTC in the preoperative stage. Characteristics of BRAF mutations may contribute to both primary treatment and long-term monitoring of recurrent disease in patients with PTC.

Біографія автора

В. Г. Хоперія, Український науково-практичний центр ендокринної хірургії, трансплантації ендокринних органів і тканин МОЗ України, Київ

V. Khoperia

Посилання

Mercer K.E., Pritchard C.A. Raf proteins and cancer: B-Raf is identified as a mutational target // Biochim. Biophys. Acta. – 2003. – Vol. 1653. – P. 25-40. https://doi.org/10.1016/s0304-419x(03)00016-7

Hilger R.A., Scheulen M.E., Strumberg D. The RasRaf-MEK-ERK pathway in the treatment of cancer // Oncol Res Treat. – 2002. – Vol. 25. – P. 511-518. https://doi.org/10.1159/000068621

Davies H., Bignell G.R., Cox C., Stephens P., Edkins S., Clegg S., Teague J.,Woffendin H., Garnett M.J., Bottomley W., Davis N., Dicks E., Ewing R., Floyd Y., Gray K., Hall S., Hawes R., Hughes J., Kosmidou V., Menzies A., Mould C., Parker A., Stevens C., Watt S., Hooper S., Wilson R., Jayatilake H., Gusterson B.A., Cooper C., Shipley J., Hargrave D., Pritchard-Jones K., Maitland N., Chenevix-Trench G., Riggins G.J., Bigner D.D., Palmieri G., Cossu A., Flanagan A., Nicholson A., Ho J.W., Leung S.Y., Yuen S.T., Weber B.L., Seigler H.F., Darrow T.L., Paterson H., Marais R., Marshall C.J., Wooster R., Stratton M.R., Futreal P.A. Mutations of the BRAF gene in human cancer // Nature. – 2002. – Vol. 417. – P. 949-954. https://doi.org/10.1038/nature00766

Kimura E.T., Nikiforova M.N., Zhu Z., Knauf J.A., Nikiforov Y.E., Fagin J.A. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma // Cancer. Res. – 2003. – Vol. 63. – P. 1454-1457.

Cohen Y., Xing M., Mambo E., Guo Z., Wu G., Trink B., Beller U., Westra W.H., Ladenson P.W., Sidransky D. BRAF mutation in papillary thyroid carcinoma // J. Natl. Cancer. Inst. – 2003. – Vol. 95. – P. 625-627. https://doi.org/10.1093/jnci/95.8.625

Soares P., Trovisco V., Rocha A.S., Lima J., Castro P., Preto A., Maximo V., Botelho T., Seruca R., Sobrinho-Simoes M. BRAF mutations and RET/ PTC rearrangements are alternative events in the etiopathogenesis of PTC // Oncogene. – 2003. – Vol. 22. – P. 4578-4580. https://doi.org/10.1038/sj.onc.1206706

Xu X., Quiros R.M., Gattuso P., Ain K.B., Prinz R.A. High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines // Cancer Res. – 2003. – Vol. 63. – P. 4561-4567.

Fukushima T., Suzuki S., Mashiko M., Ohtake T., Endo Y., Takebayashi Y., Sekikawa K., Hagiwara K., Takenoshita S. BRAF mutations in papillary carcinomas of the thyroid // Oncogene. – 2003. – Vol. 22. – P. 6455-6457. https://doi.org/10.1038/sj.onc.1206739

Namba H., Nakashima M., Hayashi T., Hayashida N., Maeda S., Rogounovitch T.I., Ohtsuru A., Saenko V.A., Kanematsu T., Yamashita S. Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers // J. Clin. Endocrinol. Metab. – 2003. – V.88. – P.4393-4397. https://doi.org/10.1210/jc.2003-030305

Nikiforova M.N., Kimura E.T., Gandhi M., Biddinger P.W., Knauf J.A., Basolo F., Zhu Z., Giannini R., Salvatore G., Fusco A., Santoro M., Fagin J.A., Nikiforov Y.E. BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas // J. Clin. Endocrinol. Metab. – 2003. – Vol. 88. – P. 5399-5404. https://doi.org/10.1210/jc.2003-030838

Cohen Y., Rosenbaum E., Clark D.P., Zeiger M.A., Umbricht C.B., Tufano R.P., Sidransky D., Westra W.H. Mutational analysis of BRAF in fine needle aspiration biopsies of the thyroid: a potential application for the preoperative assessment of thyroid nodules // Clin. Cancer. Res. – 2004. – Vol. 10. – P. 2761-2765. https://doi.org/10.1158/1078-0432.ccr-03-0273

Xing M., Vasko V., Tallini G., Larin A., Wu G., Udelsman R., Ringel M.D., Ladenson P.W., Sidransky D. BRAF T1796A transversion mutation in various thyroid neoplasms // J. Clin. Endocrinol. Metab. – 2004. – Vol. 89. – P. 1365-1368. https://doi.org/10.1210/jc.2003-031488

Xing M., Tufano R.P., Tufaro A.P., Basaria S., Ewertz M., Rosenbaum E., Byrne P.J., Wang J., Sidransky D., Ladenson P.W. Detection of BRAF mutation on fine needle aspiration biopsy specimens: a new diagnostic tool for papillary thyroid cancer // J. Clin. Endocrinol. Metab. – 2004. – Vol. 89. – P. 2867-2872. https://doi.org/10.1210/jc.2003-032050

Xing M., Cohen Y., Mambo E., Tallini G., Udelsman R., Ladenson P.W., Sidransky D. Early occurrence of RASSF1A hypermethylation and its mutual exclusion with BRAF mutation in thyroid tumorigenesis // Cancer Res. – 2004. – Vol. 64. – P. 1664-1668. https://doi.org/10.1158/0008-5472.can-03-3242

Trovisco V., Vieira de Castro I., Soares P., Maximo V., Silva P., Magalhaes J., Abrosimov A., Guiu X.M., Sobrinho-Simoes M. BRAF mutations are associated with some histological types of papillary thyroid carcinoma // J. Pathol. – 2004. – Vol. 202. – P. 247-251. https://doi.org/10.1002/path.1511

Puxeddu E., Moretti S., Elisei R., Romei C., Pascucci R., Martinelli M., Marino C., Avenia N., Rossi E.D., Fadda G., Cavaliere A., Ribacchi R., Falorni A., Pontecorvi A., Pacini F., Pinchera A., Santeusanio F. BRAF(V599E) mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas // J. Clin. Endocrinol. Metab. – 2004. – Vol. 89. – P. 2414-2420. https://doi.org/10.1210/jc.2003-031425

Begum S., Rosenbaum E., Henrique R., Cohen Y., Sidransky D., Westra W.H. BRAF mutations in anaplastic thyroid carcinoma: implications for tumor origin, diagnosis and treatment // Mod. Pathol. – 2004. – Vol. 17. – P. 1359-1363. https://doi.org/10.1038/modpathol.3800198

Kim K.H., Kang D.W., Kim S.H., Seong I.O., Kang D.Y. Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population // Yonsei Med. J. – 2004. – Vol. 45. – P. 818-821. https://doi.org/10.3349/ymj.2004.45.5.818

Fugazzola L., Mannavola D., Cirello V., Vannucchi G., Muzza M., Vicentini L., Beck-Peccoz P. BRAF mutations in an Italian cohort of thyroid cancers / / Clin. Endocrinol. (Oxf). – 2004. – Vol. 61. – P. 239-243. https://doi.org/10.1111/j.1365-2265.2004.02089.x

Hundahl S.A., Fleming I.D., Fremgen A.M., Menck H.R. A National Cancer Data Base report on 53,856 cases of thyroid carcinoma treated in the U.S., 1985-1995 // Cancer. – 1998. – Vol. 83. – P. 2638-2648. https://doi.org/10.1002/(sici)1097-0142(19981215)83:12<2638::aid-cncr31>3.0.co;2-1

Paterson I.C., Greenlee R., Adams Jones D. Thyroid cancer in Wales 1985-1996: a cancer registry-based study // Clin. Oncol. (R Coll Radiol). – 1999. – Vol.11. – P. 245-251. https://doi.org/10.1053/clon.1999.9057

Hay I.D., Bergstralh E.J., Goellner J.R., Ebersold J.R., Grant C.S. Predictingoutcome in papillary thyroid carcinoma: development of a reliable prognostic scoring system in a cohort of 1779 patients surgically treated at one institution during 1940 through 1989 // Surgery. – 1993. – Vol. 114. – P. 1050-1057.

Mazzaferri E.L., Jhiang S.M. Long-term impact of initial surgical and medical therapy on papillary and follicular thyroid cancer // Am. J. Med. – 1994. – Vol. 97. – P. 418-428. https://doi.org/10.1016/0002-9343(94)90321-2

Fonseca E., Soares P., Rossi S., Sobrinho-Simoes M. Prognostic factors in thyroid carcinomas // Verh. Dtsch. Ges. Pathol. – 1997. – Vol. 81. – P. 82-96.

Gilliland F.D., Hunt W.C., Morris D.M., Key C.R. Prognostic factors for thyroid carcinoma. A population-based study of 15,698 cases from the Surveillance, Epidemiology and End Results (SEER) program 1973-1991 // Cancer. – 1997. – Vol. 79. – P. 564-573. https://doi.org/10.1002/(sici)1097-0142(19970201)79:3<564::aid-cncr20>3.0.co;2-0

Sherman S.I., Brierley J.D., Sperling M., Ain K.B., Bigos S.T., Cooper D.S., Haugen B.R., Ho M., Klein I., Ladenson P.W., Robbins J., Ross D.S., Specker B., Taylor T., Maxon H.R. 3rd Prospective multicenter study of thyroid carcinoma treatment: initial analysis of staging and outcome. National Thyroid Cancer Treatment Cooperative Study Registry Group // Cancer. – 1998. – Vol. 83. – P. 1012-1021. https://doi.org/10.1002/(sici)1097-0142(19980901)83:5<1012::aid-cncr28>3.0.co;2-9

LiVolsi V.A., Fadda G., Baloch Z.W. Prognostic factors in well-differentiated thyroid cancer // Rays. – 2000. – Vol. 25. – P. 163-175.

Xing M., Usadel H., Cohen Y., Tokumaru Y., Guo Z., Westra W.B., Tong B.C., Tallini G., Udelsman R., Califano J.A., Ladenson P.W., Sidransky D. Methylation of the thyroid-stimulating hormone receptor gene in epithelial thyroid tumors: a marker of malignancy and a cause of gene silencing / / Cancer Res. – 2003. – Vol. 63. – P. 2316-2321.

Kaplan E.L., Meier P. Nonparametric estimation from incomplete observations // J. Am. Stat. Assoc. – 1958. – Vol. 53. – P. 457-481. https://doi.org/10.2307/2281868

Cox D.R. Regression models and life tables (with discussion) // J. R. Stat. Soc. B. – 1972. – Vol. 34. – P. 187-220.

Hay I.D., Grant C.S., Bergstralh E.J., Thompson G.B., van Heerden J.A., Goellner J.R. Unilateral total lobectomy: is it sufficient surgical treatment for patients with AMES low-risk papillary thyroid carcinoma? // Surgery. – 1998. – Vol. 124. – P. 958-964. https://doi.org/10.1016/s0039-6060(98)70035-2

Salvatore G., Giannini R., Faviana P., Caleo A., Migliaccio I., Fagin J.A., Nikiforov Y.E., Troncone G., Palombini L., Basolo F., Santoro M. Analysis of BRAF point mutation and RET/PTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma // J. Clin. Endocrinol. Metab. – 2004. – Vol. 10. – P. 5175-5180. https://doi.org/10.1210/jc.2003-032221

Xing M. BRAF mutation in thyroid cancer // Endocr. Relat. Cancer. – 2005. – Vol. 12. – P. 245-262. https://doi.org/10.1677/erc.1.0978

Porra V., Ferraro-Peyret C., Durand C., SelmiRuby S., Giroud H., Berger-Dutrieux N., Decaussin M., Peix J.L., Bournaud C., Orgiazzi J., Borson-Chazot F., Dante R., Rousset B. Silencing of the tumor suppressor gene SLC5A8 is associated with BRAF mutations in classical papillary thyroid carcinomas // J. Clin. Endocrinol. Metab. – 2005. – Vol. 90. – P. 3028-3035. https://doi.org/10.1210/jc.2004-1394

Giordano T.J., Kuick R., Thomas D.G., Misek D.E., Vinco M., Sanders D., Zhu Z., Ciampi R., Roh M., Shedden K., Gauger P., Doherty G., Thompson N.W., Hanash S., Koenig R.J., Nikiforov Y.E. Molecular classification of papillary thyroid carcinoma: distinct BRAF, RAS, and RET/PTC mutation-specific gene expression profiles discovered by DNA microarray analysis // Oncogene. – 2005. – Vol. 24(44). – P. 6646-6656. https://doi.org/10.1038/sj.onc.1208822

Knauf J.A., Ma X., Smith E.P., Zhang L., Mitsutake N., Liao X.H., Refetoff S., Nikiforov Y.E., Fagin J.A. Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation // Cancer. Res. – 2005. – Vol. 65. – P. 4238-4245. https://doi.org/10.1158/0008-5472.can-05-0047

Trovisco V., Soares P., Preto A., de Castro I.V., Lima J., Castro P., Maximo V., Botelho T., Moreira S., Meireles A.M., Magalhaes J., Abrosimov A., Cameselle-Teijeiro J., Sobrinho-Simoes M. Type and prevalence of BRAF mutations are closely associated with papillary thyroid carcinoma histotype and patients' age but not with tumour aggressiveness // Virchows Arch. – 2005. – Vol. 446. – P. 589-595. https://doi.org/10.1007/s00428-005-1236-0