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Abstrak :
Latar Belakang: Skrining kanker kulit dilakukan sebagai salah satu upaya dalam mengurangi morbiditas dan mortalitas yang ditimbulkan akibat kanker kulit. Karsinoma sel basal (KSB) merupakan salah satu kanker kulit yang paling sering ditemukan. KSB berpigmen seringkali menunjukkan fitur klinis yang menyerupai melanoma, sehingga kriteria klinis ABCDE diduga dapat menjadi salah satu pilihan dalam membantu penegakan diagnosis. Tujuan: Mengevaluasi kriteria klinis ABCDE sebagai alat bantu skrining KSB berpigmen dibandingkan dengan baku emas histopatologik. Metode: Penelitian potong lintang analitik ini dilakukan pada bulan Januari sampai dengan Juni 2023 di Rumah Sakit Umum Pusat Nasional dr. Cipto Mangunkusumo (RSUPNCM). Pasien dengan lesi tumor kulit berpigmen dari tahun 2017 sampai dengan 2022 yang mempunyai data klinis, histopatologis, dan foto dokumentasi yang lengkap direkrut ke dalam penelitian secara konsekutif. Kriteria eksklusi mencakup lesi berukuran lebih dari 2 cm, ras kulit putih (tipe kulit Fitzpatrick 1-3), serta hasil pembacaan histopatologis lesi tumor sesuai dengan penyakit prakanker dan kanker kulit lainnya. Data diolah secara statistik menggunakan perangkat lunak Stata versi 16 (StataCorpTM) dan Medcalc diagnostic evaluation test calculator. Hasil: Sebanyak 84 pasien direkrut ke dalam penelitian dengan total 95 lesi yang mencakup 61 lesi KSB dan 34 lesi non-KSB. Median usia subjek KSB lebih tua dibandingkan dengan usia subjek non-KSB (p<0,001). Median ukuran lesi KSB lebih besar dibandingkan dengan ukuran lesi non-KSB (p<0,001). Lesi pada subjek KSB lebih banyak di wajah dibandingkan dengan subjek non-KSB (p=0,005). Proporsi kepositivan KSB berdasarkan kriteria klinis ABCDE adalah 87,5%. Kriteria klinis ABCDE menunjukkan sensitivitas 57,4% (interval kepercayaan [IK] 95% 44,0%–70,0%); spesifisitas 85,3% (IK 95% 68,9%–95,0%); nilai duga positif 87,5% (IK 95% 75,2%–94,2%); nilai duga negatif 52,7% (IK 95% 44,7%–60,6%); dan akurasi 67,4% (IK 95% 57,0%–76,6%) dalam mendiagnosis KSB berpigmen. Kesimpulan: Kriteria klinis ABCDE secara lengkap mempunyai nilai diagnostik yang kurang baik sebagai alat bantu skrining KSB berpigmen. ......Background: Skin cancer screening is performed as an effort to reduce the morbidity and mortality caused by skin cancer. Basal cell carcinoma (BCC) is one of the most common skin cancers. Pigmented BCC often shows clinical features resembling melanoma, so that ABCDE clinical criteria are thought to be a potential modality to help establishing the diagnosis of pigmented BCC. Objective: To evaluate the ABCDE clinical criteria for the screening of pigmented BCC compared to histopathological examination as the gold standard examination. Method: This analytical cross-sectional study was performed from January to June 2023 in dr. Cipto Mangunkusumo National Central General Hospital (RSUPNCM). Subjects with pigmented skin lesions visiting RSUPNCM from 2017 to 2022 whose clinical data, histopathological data, and photographs were documented completely were recruited to the study consecutively. Exclusion criteria included lesion’s size more than 2 cm, light skin (Fitzpatrick skin type 1-3), and histopathological diagnosis in line with precancerous lesion or other skin cancer. Data were analyzed with Stata software version 16 (StataCorpTM) and Medcalc diagnostic evaluation test calculator. Results: A total of 84 subjects were recruited to the study with a total of 95 lesions consisting of 61 BCC lesions and 35 non-BCC lesions. Median age of the BCC subjects was older than that of non-BCC subjects (p<0.001). Median lesion’s size of the BCC lesions was larger than that of non-BCC lesions (p<0.001). The lesion location in BCC subjects was significantly prevalent on the face (p=0.005). The proportion of BCC positivity based on ABCDE clinical criteria was 87.5%. ABCDE criteria had sensitivity of 57.4% (95% Confidence Interval [CI] 44.0%–70.0%); specificity of 85.3% (95% CI 68.9%–95.0%); PPV of 87.5% (95% CI 75.2%–94.2%); NPV of 52.7% (95% CI 44.7%–60.6%); and accuracy of 67.4% (95% CI 57.0%–76.6%) in diagnosing pigmented BCC. Conclusion: Fulfilling all ABCDE clinical criteria had poor diagnostic value for the screening of pigmented BCC.

Abstrak :
Pigmentasi merupakan proses fisiologis yang ditandai dengan perubahan warna kulit yang terjadi secara kompleks dan dapat dipengaruhi oleh profil genetik. Hingga saat ini, belum terdapat penelitian serta publikasi yang membahas bagaimana profil genetik dapat mempengaruhi karakteristik pigmentasi di Indonesia. Analisis Genome-Wide Association Study (GWAS) pada penelitian ini dilakukan terhadap 94 subjek wanita pada populasi di Jakarta. Penelitian meliputi pengambilan dan pengolahan data, uji asosiasi, dan analisis pengayaan menggunakan berbagai basis data. Uji asosiasi menunjukkan terdapat dua SNP yang memiliki asosiasi terhadap indeks melanin dengan nilai P <1x10-5 yaitu rs10031234 (nilai P: 3,229x10-6) dan rs11548325 (nilai P: 7,808x10-6). Analisis pengayaan menunjukkan SNP rs10031234 terletak pada region gen SORCS2, sementara SNP rs11548325 terletak pada region gen PSAPL1. Gen SORCS2 terekspresi pada jaringan kulit khususnya pada sel yang berkaitan dengan akar rambut dan fibroblast. Variasi rs11548325 terjadi pada domain SapA diketahui berkaitan dengan metabolisme sphingolipid. Analisis pengayaan fungsi menunjukkan kaitan gen-gen yang terasosiasi dengan proses keratinisasi. Namun demikian, perlu dilakukan penelitian lebih lanjut menggunakan sampel yang lebih besar agar dapat diperoleh nilai signifikansi yang lebih bermakna serta analisis korelasi antar kedua SNP rs10031234 dan rs11548325 dengan fungsi molekuler. ......Skin pigmentation is a physiological process characterized by changes in the color of the skin and can be influenced by genetic profiles. To date, there have been no studies and publications that discuss how genetic profiles can affect skin pigmentation in Indonesia. Genome-Wide Association Study (GWAS) was conducted on 94 female subjects who live in Jakarta. The research procedure includes data collection and processing, association testing, and enrichment analysis using various databases. The association test showed that there were two SNPs associated with the melanin index with a P value <1x10-5, which are rs10031234 (P value: 3.229x10-6) and rs11548325 (P value: 7.808x10-6). Enrichment analysis showed that SNP rs10031234 was located in the SORCS2 gene region, while SNP rs11548325 was located in the PSAPL1 and SORCS2 gene regions. SORCS2 gene is expressed in skin tissue, especially in cells associated with hair roots and fibroblasts. The rs11548325 variation located in the SapA domain which is known to be related to glycosphingolipid metabolism. Functional enrichment analysis showed the association of genes associated with the keratinization process. However, it is necessary to carry out further research using a larger sample to obtain a higher significance value, and also conducting correlation analysis between SNP rs10031234 and rs11548325 with molecular.