Роль виявлення мутації BRAF V600E під час проведення ТАПБ вузлів щитоподібної залози

В. Г. Хоперія

doi:10.24026/1818-1384.3(36).2011.86661

Автор(и)

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

DOI:

https://doi.org/10.24026/1818-1384.3(36).2011.86661

Ключові слова:

papillary carcinoma, BRAF mutation, fine needle biopsies

Анотація

TheBRAF mutation is specific for thyroid papillary cancer (PTC) and correlates with PTCs invasiveness. Detection of BRAF mutation on fine needle biopsies (FNAB) can improve accuracy of cytological diagnosis in patients with thyroid nodules.

This study investigated whether detection of BRAF mutation can be performed on routinely stained FNABs. One hundred thirty four FNABs samples stained by MayGrunwald/Geimsa technique were classified as suspicious (30 cases) or malignant FNABs (104 cases). Postoperative diagnoses were 10 benign and 124 malignant tumors. In suspicious FNABs, BRAF mutation was found in 2/30 (6%) of cases (2 PTC). In malignant FNABs, BRAF mutation was detected in 47/104 (45.2%) There was a significant association of BRAF mutation in preoperative FNAB specimens with the presence of extrathyroidal extension and lymph node metastases. Stained FNAB specimens can be used for DNA extraction and assessment of BRAF mutation. Detection of BRAF mutation has a limited value in diagnosis of malignancy in cases of suspicious FNABs. In malignant FNABs, detection of BRAF mutation could be a useful adjunct for preoperative identification of tumors with a high risk of extra-thyroidal extension and metastases.

Біографія автора

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

V. Hoperia

Посилання

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.

Heim. M. et al. La cytoponction a l`aiguille fine des nodules thyroidiens. Valeur diagnostique et place dans la strategie therapeutique // Rev. F. Endocrinol. Clin. – 1984. – Vol. 25, № 1. – P. 37-42.

Gharib H. Fine-needle aspiration biopsy of thyroid nodules: advantages, limitations, and effect // Mayo Clin. Proc. – 1994. – Vol. 69, № 1. – P. 44-49. https://doi.org/10.1016/s0025-6196(12)61611-5

AACE/AAES medical/surgical guidelines for clinical practice: management of thyroid carcinoma. American Association of Clinical Endocrinologists. American College of Endocrinology // Endocr. Pract. – 2001. – Vol. 7, № 3. – P. 202-220. https://doi.org/10.4158/ep.7.3.202

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

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 Ras-Raf-MEK-ERK pathway in the treatment of cancer // Oncol. Res. Treat. – 2002. – Vol. 25. – P. 511-518. https://doi.org/10.1159/000068621

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. – Vol. 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