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"[ABSTRAKLatar Belakang: Karsinoma papiler tiroid (KPT) merupakan keganasan terseringorgan endokrin dengan prognosis yang sangat baik, namun pada beberapa kasusdapat terjadi rekurensi dan mortalitas. Beberapa faktor prognostik dan mutasi Btyperapidly accelerated fibrosarcoma V600E (BRAF V600E) dikatakanberhubungan dengan prognosis yang lebih buruk. Pemeriksaan imunohistokimiaprotein BRAF V600E dipercaya dapat mendeteksi adanya mutasi denganspesifisitas 100% dan sensitivitas 89%. Tujuan penelitian ini untuk mengetahuiimunoekspresi BRAF V600E dan hubungannya dengan faktor-faktor prognostik.Bahan dan Cara: Penelitian dilakukan secara retrospektif, desain deskriptifanalitik studi potong lintang. Sampel penelitian berasal dari RSCM berjumlah 50kasus KPT yang dinilai ulang untuk menentukan faktor-faktor prognostik secaramikroskopik. Pemeriksaaan mutasi BRAF V600E menggunakan tehnikimunohistokimia dan penilaian menggunakan H score.Hasil: Nilai H score ³ 326,5 ditentukan sebagai mutasi BRAF V600E positif dan< 326,5 sebagai mutasi BRAF V600E negatif. Terdapat 17 (34%) kasus positifmengalami mutasi BRAF V600E. Rerata usia pada kasus dengan mutasi BRAF V600Epositif adalah 44,71 tahun. Ukuran tumor pada kasus dengan mutasi BRAF V600E positifberkisar antara 0,1-4cm. Tujuh belas kasus yang mengalami mutasi, 6 dlaki-laki dan 11perempuan. Tujuh kasus dengan perluasan keluar tiroid, 11 kasus dengan metastasiskelenjar getah bening (KGB), dan 8 kasus dengan varian histopatologik tall cell.Kesimpulan: Terdapat hubungan bermakna antara mutasi BRAF V600E denganperluasan keluar tiroid, metastasis kelenjar getah bening (KGB), dan varianhistopatologik tall cell. Tidak terdapat hubungan bermakna antara mutasi BRAFV600E dengan usia, jenis kelamin, dan ukuran tumor.

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ABSTRACTBackgroud: Papillary Thyroid Carcinoma (PTC) is the most common malignantneoplasm of the endocrine organ with an excellent prognosis, but in some casespresent with recurrency and mortality. There are prognostic factors and BRAFV600E mutation that related to worse prognosis. Immunohistochemicalinvestigetion of BRAF V600E protein believe can detect mutation wth 100%specificity and 89% sensitivity. Recent study suggest PTC with BRAF V600Emutation do thyroidectomy with prophylactic lymph node dissection. BRAFV600E specific inhibitor effective to the patient with advance stadium, patientwith metastases, and resistant to iodium radioactive. Aim of this study is to obtainBRAF V600E and the relation with prognostic factors.Material and Methods: This is a retrospective descriptive-analytic crosssectionalstudy. Fifty patient with PTC comes from Ciptomangunkusumo Hospitaland reviewed to determine prognostic factors microscopicaly. BRAF V600Emutation detected by immunohistochemical staining and assesed with H score.Result: H score ³ 326,5 determined as positive BRAF V600E mutation and <326,5 as negative BRAF V600E mutation. BRAF V600E mutation was detectedin 17 (34%) cases by immunohistochemistry. The mean age of the cases withpositive BRAF V600E mutation was 44.71 years, while the negative 41.58. Thesize of the tumor in cases with BRAF V600E mutation positive range between0,1-4cm, while negative 0,1-9cm. Seventeen cases have mutations, 6 of them sexmale and 11 female. Seven cases with extrathyroidal extension (ETE), 11 caseswith lymph node metastasis (KGB), and 8 cases with tall cell variant.Conclusion: There are significant correlation between BRAF V600E mutationwith extrathyroidal extension, lymph node metastases, and tall cell variant. Thereare no significant correlation between BRAF V600E mutation with age, gender,and size of the tumor, Backgroud: Papillary Thyroid Carcinoma (PTC) is the most common malignantneoplasm of the endocrine organ with an excellent prognosis, but in some casespresent with recurrency and mortality. There are prognostic factors and BRAFV600E mutation that related to worse prognosis. Immunohistochemicalinvestigetion of BRAF V600E protein believe can detect mutation wth 100%specificity and 89% sensitivity. Recent study suggest PTC with BRAF V600Emutation do thyroidectomy with prophylactic lymph node dissection. BRAFV600E specific inhibitor effective to the patient with advance stadium, patientwith metastases, and resistant to iodium radioactive. Aim of this study is to obtainBRAF V600E and the relation with prognostic factors.Material and Methods: This is a retrospective descriptive-analytic crosssectionalstudy. Fifty patient with PTC comes from Ciptomangunkusumo Hospitaland reviewed to determine prognostic factors microscopicaly. BRAF V600Emutation detected by immunohistochemical staining and assesed with H score.Result: H score ³ 326,5 determined as positive BRAF V600E mutation and <326,5 as negative BRAF V600E mutation. BRAF V600E mutation was detectedin 17 (34%) cases by immunohistochemistry. The mean age of the cases withpositive BRAF V600E mutation was 44.71 years, while the negative 41.58. Thesize of the tumor in cases with BRAF V600E mutation positive range between0,1-4cm, while negative 0,1-9cm. Seventeen cases have mutations, 6 of them sexmale and 11 female. Seven cases with extrathyroidal extension (ETE), 11 caseswith lymph node metastasis (KGB), and 8 cases with tall cell variant.Conclusion: There are significant correlation between BRAF V600E mutationwith extrathyroidal extension, lymph node metastases, and tall cell variant. Thereare no significant correlation between BRAF V600E mutation with age, gender,and size of the tumor]"

"ABSTRAKV600E adalah perubahan genetik yang paling banyak terjadi pada kanker tiroid, dan telah menjadi penanda diagnostik penting pada jenis histopatologi ganas, khususnya karsinoma papiler. Tujuan dari penelitian ini adalah untuk mengembangkan dan memvalidasi teknik screnning BRAF V600E pada kanker tiroid menggunakan metode high resolution melting (HRM). Sebanyak 57 pasien dengan kelainan nodul tiroid dikumpulkan secara retrospektif di Rumah Sakit Kanker Dharmais yang dikoleksi dari tahun 2012-2014. Mutasi gen BRAF V600E dianalisis dari sampel fine needle aspiration biopsy (FNAB) menggunakan teknik HRM reagen MeltDoctor HRM Master Mix (Applied Biosystem) yang divalidasi dengan teknik Sanger Sequencing. Penelitian ini berhasil mengoptimalisasi metode HRM dengan membedakan melting curve sampel kontrol positif mutasi gen BRAF V600E dengan sampel normal. Berdasarkan hasil validasi dengan teknik Sanger Sequencing, diperoleh hasil gambaran elektroferogram pada gen BRAF ekson 15 yang mengalami mutasi titik pada basa nukleotida ke 1799 T>A (V600E). Hasil screening menunjukkan bahwa terdapat 13 sampel terdeteksi positif mutasi gen BRAF V600E pada jenis histopatologi ganas karsinoma tiroid papiler (12) dan karsinoma anaplastik (1). Tidak ditemukan satu pun mutasi gen BRAF V600E pada sampel dengan histopatologi jinak ataupun kontrol normal. Berdasarkan hasil tersebut, dapat disimpulkan bahwa teknik HRM dapat digunakan untuk screening mutasi gen BRAF V600E pada kanker tiroid.

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ABSTRACTBRAF V600E gene mutation is the most common genetic alteration that found in thyroid cancer and has been an important diagnostic marker for malignant histopathology, specifically papillary carcinoma. The aim of this study is to develop and validate BRAF V600E gene mutation screening technique on thyroid cancer patients using high resolution melting (HRM) method. Retrospectively 57 patients with thyroid nodules abnormalities were collected in Dharmais Cancer Hospital collected in 2012-2014. Mutation in BRAF V600E gene were analyze from fine needles aspiration biopsy (FNAB) using MeltDoctor HRM Master Mix (Applied Biosystem) as the HRM reagen and validated using Sanger sequencing. This Study have optimalize HRM method by differentiating positive control BRAF V600E gene melting curve mutaion with normal sampel. Validation using Sanger sequencing depict electropherogram of BRAF gene on exon 15 point mutation on nucleotide 1799 T>A (V600E). Screening shows 13 samples detected positive on BRAF V600E gene mutation on malignant histopathology thyroid papillary carcinoma (12) and anaplastic carcinoma (1). No mutation found on benign histopathology samples and normal samples. The conclusion of this study is HRM technique can be use to screen mutation BRAF V600E on thyroid cancer. "

"Latar Belakang: Kanker tiroid adalah keganasan yang paling sering terjadi pada sistem endokrin. Kanker tiroid yang paling sering terjadi adalah karsinoma tiroid papiler (KTP), dengan sebagian besar kasus dapat disembuhkan dengan angka kesintasan >95% selama 20 tahun. Namun, apabila terjadi kekambuhan, maka angka mortalitasnya yang meningkat. Skoring prognostik penting sebagai penentu pengobatan yang bertujuan untuk mengelompokkan pasien ke dalam kelompok risiko yang sesuai sehingga memungkinkan pasien untuk mendapatkan optimalisasi modalitas pengobatan. Skoring prognosis yang umum digunakan adalah skoring AMES, MACIS, dan AGES. Mutasi gen BRAF V600E dihubungkan dengan prognosis yang buruk karena persistensi dan kekambuhan penyakit. Suatu studi menambahkan pemeriksaan mutasi BRAF V600E kedalam skoring prognosis dan bermakna secara statistik sedangkan studi lainnya tidak memiliki kemaknaan secara statistik. Metode: Studi ini merupakan studi potong lintang terhadap pasien KTP di RSUPN Cipto Mangunkusumo menggunakan data sekunder berupa status mutasi BRAF V600E dan data untuk mengkalkulasi skoring prognosis (Usia, USG preoperatif, CT-Scan atau MRI, data histopatologi, dan data laporan pembedahan). Parameter yang diukur meliputi proporsi dan hubungan antara mutasi BRAF V600E dengan skoring prognosis (AMES, MACIS, dan AGES). Hasil: Proporsi mutasi BRAF V600E pada skoring prognosis yaitu: Skoring AMES: High Risk: 71,4% dan Low Risk: 28,6%, Skoring MACIS: Skor ³ 8: 38,1%; Skor 7 – 7,99: 9,5%; Skor 6 – 6,99: 19%; dan Skor < 6: 33,3%, dan Skoring AGES: Skor ³ 6: 61,9%; Skor 5 – 5,99: 0%; Skor 4 – 4,99: 4,8%; dan Skor < 4: 33,3%. Analisis bivariat menunjukan mutasi BRAF V600E bermakna secara statistik dengan skoring MACIS dengan Odd Ratio (OR) 2,96 (p Value = 0,044, Confidence Interval (CI) 95% = 1,01 – 8,64), sedangkan skoring AMES dan AGES tidak bermakna secara statistik. Kesimpulan: Mutasi BRAF V600E dengan hasil positif meningkatkan prognosis buruk pada skoring MACIS sebanyak 2,96 kali.......Introduction: Thyroid cancer is the most common malignancy of the endocrine system. The most common type of thyroid cancer is papillary thyroid carcinoma (PTC), and most cases are curable, with a 20-year survival rate of more than 95%. However, when it recurs, it has a high mortality rate. Prognostic scoring systems are important as treatment determinants that aim to classify patients into appropriate risk groups to optimize treatment modalities. Commonly used prognostic scoring systems are the AMES, MACIS, and AGES. Mutation of BRAF V600E is associated with a poor prognosis due to disease persistence and recurrence. One study added the BRAF V600E mutation to the prognosis scoring, and it was statistically significant, while another study showed no statistical significance. Methods: This study was a cross-sectional study of PTC patients at Cipto Mangunkusumo Hospital using secondary data, such as BRAF V600E mutation status and data to calculate prognosis scoring systems. Parameters measured included the proportion and association between the BRAF V600E mutation and prognosis scoring systems (AMES, MACIS, and AGES). Results: The proportion of BRAF V600E mutations in prognosis scoring systems was as follows: AMES - High Risk: 71.4% and Low Risk: 28.6%; MACIS Scoring - Score ≥ 8: 38.1%; Score 7–7.99: 9.5%; Score 6–6.99: 19%; and Score < 6: 33.3%; and AGES - Score ≥ 6: 61.9%; Score 5–5.99: 0%; Score 4–4.99: 4.8%; and Score < 4: 33.3%. Bivariate analysis showed that the BRAF V600E mutation was statistically significant with MACIS scoring, with an Odd Ratio (OR) of 2.96 (p Value = 0.044, Confidence Interval (CI) 95% = 1.01–8.64), while AMES and AGES scoring were not statistically significant. Conclusion: A positive BRAF V600E mutation result increases the poor prognosis on MACIS scoring by 2.96 times."