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"Latar Belakang: Peningkatan kasus kanker tiroid belakangan ini menimbulkan pertanyaan tentang overdiagnosis. ACR-TIRADS merupakan sistem stratifikasi yang dikembangkan untuk mengurangi overdiagnosis dalam mendeteksi kanker tiroid dengan menggunakan ultrasonografi. AI-TIRADS merupakan modifikasi baru dari ACR-TIRADS yang diklaim memiliki nilai diagnostik yang lebih baik, namun AI-TIRADS belum pernah diuji pada populasi Indonesia. Tujuan: Peneliti ingin mengetahui apakah AI-TIRADS memang benar lebih baik dibandingkan ACR-TIRADS dalam menentukan keganasan suatu nodul tiroid. Metode: Penelitian ini mengevaluasi 124 nodul tiroid yang terdiri atas 62 nodul jinak dan 62 nodul ganas berdasarkan ACR-TIRADS dan AI-TIRADS. Setiap penentuan keganasan didasarkan dari lima kategori yang dipakai oleh TIRADS (komposisi, ekogenisitas, bentuk, tepian dan fokus ekogenik). Hasil temuan kedua sistem stratifikasi risiko ini kemudian dibandingkan nilai diagnostiknya dengan pemeriksaan sitopatologi berdasarkan kriteria Bethesda. Hasil: AI-TIRADS secara umum menunjukkan nilai diagnostik yang lebih baik daripada ACR-TIRADS. Tingkat kesesuaian AI-TIRADS terhadap pemeriksaan sitopatologi lebih baik dibandingkan ACR-TIRADS (0,387 dan 0,242). Spesifisitas AI-TIRADS lebih baik (58,06% vs 41,94%; p< 0,00) dibandingkan ACR-TIRADS, namun sensitivitas AI-TIRADS sedikit lebih rendah dibandingkan ACR-TIRADS (80,65% vs 82,26%; p<0,00). AI-TIRADS juga memiliki nilai duga positif dan nilai duga negatif yang lebih baik dibandingkan ACR-TIRADS (AI-TIRADS: 65,79% dan 75% vs ACR-TIRADS: 58,62% dan 70,27%). Kesimpulan: AI-TIRADS memiliki nilai diagnostik yang lebih baik dan dapat mengurangi jumlah positif palsu, namun AI-TIRADS masih memiliki kesulitan dalam mendeteksi keganasan pada nodul tiroid yang padat kistik. Diperlukan pengembangan lebih lanjut dari AI-TIRADS untuk meningkatkan kemampuan diagnostik dalam menentukan keganasan nodul tiroid, khususnya pada nodul padat kistik.

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Background: The recent increase in thyroid cancer cases has raised questions about overdiagnosis. ACR-TIRADS is a risk stratification system developed to reduce overdiagnosis in thyroid cancer detection using ultrasound. AI-TIRADS is a recent modification of ACR-TIRADS claimed to have better diagnostic value, but it has not been tested in the Indonesian population. Objective: The author aimed to determine whether AI-TIRADS is indeed superior to ACR-TIRADS in assessing the malignancy of thyroid nodules. Methods: This study evaluated 124 thyroid nodules, consisting of 62 benign and 62 malignant nodules, based on ACR-TIRADS and AI- TIRADS. Malignancy determinations were based on five categories used by TIRADS (composition, echogenicity, shape, margins, and echogenic foci). The findings of both risk stratification systems were then compared with their diagnostic values in cytopathological examinations based on Bethesda criteria. Results: AI- TIRADS, in general, demonstrated superior diagnostic value compared to ACR- TIRADS. The concordance rate of AI-TIRADS with cytopathological examinations was better than that of ACR-TIRADS (0.387 and 0.242). AI-TIRADS exhibited better specificity (58.06% vs. 41.94%; p < 0.00) compared to ACR-TIRADS, although AI-TIRADS had slightly lower sensitivity (80.65% vs. 82.26%; p < 0.00) compared to ACR-TIRADS. AI-TIRADS also had better positive predictive values and negative predictive values (AI-TIRADS: 65.79% and 75% vs. ACR-TIRADS: 58.62% and 70.27%). Conclusion: AI-TIRADS has better diagnostic value and managed to reduces the number of false positives. However, AI-TIRADS still faces challenges in detecting malignancy in solid cystic thyroid nodules. Further development of AI-TIRADS is needed to enhance its diagnostic capabilities in determining the malignancy of thyroid nodules, especially in solid cystic nodules."

"Metilasi DNA merupakan perubahan epigenetik yang umum terjadi sebagai penyebab inaktivasi gen pada tumor suppressor genes (TSGs). Metilasi pada promoter TSG memiliki asosiasi dengan pembentukan kanker tiroid. Metode methylation-specific multiplex ligation dependent-probe amplification (MS-MLPA) merupakan salah satu metode berbasis PCR yang dapat melakukan identifikasi metilasi pada beberapa gen dan analisis copy number variant secara simultan. Tujuan dari penelitian ini adalah untuk mengoptimasi metode MS-MLPA dan mengidentifikasi metilasi TSG pada kanker tiroid dengan metode MS-MLPA. Sebanyak 40 sampel fine needle aspiration biopsy (FNAB) dikumpulkan secara retrospektif di Rumah Sakit Kanker Dharmais. Sampel FNAB berasal dari pasien yang memiliki kelainan nodul tiroid. Metilasi TSG dianalisis dengan metode MS-MLPA menggunakan probemix Tumour Suppressor Mix 1 ME001-C2 (MRC-Holland). Sampel FNAB dibandingkan dengan reference sample berupa sampel darah yang berasal dari individu sehat. Penelitian ini berhasil mengoptimasi metode MS-MLPA dan mendeteksi metilasi pada 4 jenis tumor suppressor genes, yaitu gen RASSF1A, gen CASP8, gen FHIT, dan gen CHFR. Hasil identifikasi menunjukkan bahwa terdapat 20 sampel tumor ganas dan 2 sampel tumor jinak mengalami metilasi.

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DNA methylation is a common epigenetic change that causes gene inactivation in tumor suppressor genes (TSGs). TSGpromoter methylation has an association with the formation of thyroid cancer. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a PCR-based method that can identify methylation in several genes and copy number variant simultaneously. The aim of this study is to optimize methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and to identify tumor suppressor genes methylation of thyroid cancer using MS-MLPA. Retrospectively 40 Fine Needle Aspiration Biopsy samples were collected in Dharmais Cancer Hospital. FNAB samples were collected from patients with thyroid nodules abnormalities. Tumor suppressor genes methylation were analyzed using Tumour Suppressor Mix 1 ME001-C2 probemix (MRC-Holland) as MS-MLPA reagents. FNAB samples were compared with reference sample from blood that were collected from healthy people. This study has successfully optimizing MS-MLPA method and detecting 4 methylated tumor suppressor genes, RASSF1A, CAPS8, FHIT and CHFR. Methylation identification shows 20 malignant histopathology samples and 2 benign histopathology samples were methylated.

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"Concurrently, there have been a number of recent advances in surgical treatment, as well as diagnostic modalities that allow us to detect small amounts of residual local and metastatic disease. Additionally, a reexamination of past treatment regimens has led to new recommendations regarding the use of radioactive iodine, and to new therapeutic options, such as targeted therapy which have supplanted the use of more toxic chemotherapy for metastatic cancer. Multiple academic organizations have developed consensus guidelines for the management of thyroid cancer, occasionally with conflicting recommendations.

In Thyroid cancer, a renowned group of authors presents a broad overview of the pathology, pathophysiology, diagnosis, and management of thyroid cancer, with an emphasis on recent evidence-based information. "

"ABSTRAKLatar Belakang: Kanker tiroid merupakan keganasan endokrin yang paling sering ditemukan dan insidennya semakin meningkat. Meskipun metode biopsi aspirasi jarum halus memiliki sensitivitas yang baik dalam mendiagnosis nodul tiroid, sebanyak 10-40 masih memberikan hasil inkonklusif dalam penentuan keganasan. Hal ini sering merugikan pasien karena harus mengalami re-operasi apabila terdapat keganasan pada hasil histopatologi.Tujuan Penelitian: Mengetahui proporsi dan mendapatkan nilai diagnostik dari pemeriksaan mutasi BRAF, NRAS, dan promoter TERT pada spesimen BAJAH untuk meningkatkan akurasi diagnosis kanker tiroid.Metode Penelitian: Studi retrospektif dengan mengikutsertakan 50 pasien nodul tiroid yang memerlukan pembedahan. Spesimen diambil pada saat proses BAJAH atau pasca operasi. Deteksi mutasi BRAF, NRAS, dan promoter TERT menggunakan metode DNA sekuensing Sanger . Hasil mutasi akan dibandingkan dengan pemeriksaan baku emas histopatologi.Hasil: Dari 50 kasus yang ikut dalam analisis, terdapat 39 kasus 78 merupakan keganasan tiroid. Nilai proporsi mutasi BRAF, NRAS, dan pTERT berturut-turut sebesar 31 , 18 , dan 13 . Uji diagnostik mutasi BRAF menghasilkan sensitivitas, spesifisitas, nilai duga positif, dan nilai duga negatif berturut-turut 31 , 100 , 100 , 29 terhadap kanker tiroid. Untuk mutasi NRAS sebesar 18 , 100 . 100 , 26 . Sedangkan untuk mutasi pTERT sebesar 13 , 100 , 100 , 24 . Jika ketiga mutasi tersebut dikombinasikan, maka nilainya akan meningkat menjadi 49 , 100 , 100 , 35 . Kesimpulan: Pemeriksaan mutasi BRAF, NRAS dan promoter TERT pada kanker tiroid masing-masing memiliki spesifisitas yang tinggi. Jika ketiganya dikombinasikan maka akan meningkatkan sensitivitas untuk membantu dalam meningkatkan akurasi diagnosis keganasan tiroid.

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ABSTRACTBackground Thyroid cancer is the most common endocrine malignancy and it rsquo s incidence is on the rise. Although the fine needle aspiration biopsy FNAB has a good sensitivity in the diagnosis of thyroid nodules, as much as 10 40 still gives inconclusive results in malignant determination. This is often detrimental to patients having to undergo re surgery if there is a malignancy in the histopathologic outcome.Aim To establish the proportion and diagnostic value of BRAF, NRAS, and TERT promoter mutation detection on FNAB specimens to improve the accuracy of thyroid cancer diagnosis.Methods The retrospective study by involving 50 patients with thyroid nodules surgery. Specimens were taken during the FNAB or postoperative process. Detection of BRAF, NRAS, and TERT promoter mutation using DNA sequencing method Sanger . The mutation results will be compared with the histopathologic gold standard examination.Resuts Of the 50 cases involved in the analysis, there were 39 cases 78 of thyroid malignancies. The proportion of BRAF, NRAS, and pTERT mutations was 31 , 18 , and 13 , respectively. BRAF mutation diagnostic test results in sensitivity, specificity, positive predictive value, and negative predictive value were 31 , 100 , 100 , 29 respectively. For NRAS mutation were 18 , 100 . 100 , 26 . As for pTERT mutation were 13 , 100 , 100 , 24 . If the three mutations are combined, then the value will increase to 45 , 100 , 100 , 35 .Conclusion Detection mutations of BRAF, NRAS and TERT promoters in thyroid cancer have a high specificity. If all three are combined it will increase the sensitivity to improve the accuracy of the diagnosis in thyroid malignancy."

"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.

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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."