Abstract Melanoma can develop in a congenital melanocytic nevus (CMN). In fact, a large CMN is associated with a high risk of developing melanoma. Although melanomas arising from CMNs are thought to have a pathogenesis distinct from conventional melanomas, no studies have been conducted on the evolution or tumor heterogeneity of CMN melanomas. We applied multi‐region whole‐exome sequencing to investigate the clonal nature of driver events and evolutionary processes in CMNs and melanomas arising from CMNs. In two patients, we observed an independent subclonal evolution in cancerized fields of CMNs and chromosome 8q amplification in both melanomas arising from CMNs. The amplification of MYC, located in chromosome 8q, was correlated with the percentage of tumor cells expressing high levels of MYC protein detected in melanoma cells by immunohistochemistry. Our analysis suggests that each CMN cell may evolve sporadically and that amplification of MYC might be a key event for melanoma development in CMNs.
Background: An acral lentiginous melanoma (ALM) is the most common type of cutaneous melanoma in Asians. A remarkable improvement recently made in the prognosis of ALM may possibly be explained by early detection including melanoma in situ. But, the studies in Korean patients with ALM in situ are extremely rare. Objectives: To make dermatologist aware of the clinical and histopathological findings during ALM in situ. Methods: We have retrospectively studied 9 cases of melanoma in situ in the past 17 years from 1997 to 2013. And subungual variants were excluded. Here we describe clinical and histologic features of nine cases of ALM in situ including immunohistochemical staining with Melan-A and HMB45. Results: The mean age was 55.8, and the most common site of ALM in situ was the right heel. Interestingly, two cases were less than 5 mm in diameter. All lesions stained with H & E demonstrated a similar pattern of larger atypical melanocytes with irregular shapes and hyperchromatic nuclei confined to the epidermis. In all cases, Melan-A and HMB45 staining showed positive results. Conclusion: Even if the lesion is small in diameter, when clinically suspected, biopsy should be performed with Melan-A and HMB45 staining.
Additional file 3. Table S2. Effect allele frequencies (EAFs) of open-angle glaucoma-related single nucleotide polymorphisms in East Asian groups, including Koreans.
The prevalence of vitamin D deficiency varies from 20.8% to 61.6% among populations of different ethnicities, suggesting the existence of a genetic component. The purpose of this study was to provide insights into the genetic causes of vitamin D concentration differences among individuals of diverse ancestry. We collected 320 single-nucleotide polymorphisms (SNPs) associated with vitamin D concentrations from a genome-wide association studies catalog. Their population-level allele frequencies were derived based on the 1000 Genomes Project and Korean Reference Genome Database. We used Fisher's exact tests to assess the significance of the enrichment or depletion of the effect allele at a given SNP in the database. In addition, we calculated the SNP-based genetic risk score (GRS) and performed correlation analysis with vitamin D concentration that included latitude. European, American, and South Asian populations showed similar heatmap patterns, whereas African, East Asian, and Korean populations had distinct ones. The GRS calculated from allele frequencies of vitamin D concentration was highest among Europeans, followed by East Asians and Africans. In addition, the difference in vitamin D concentration was highly correlated with genetic factors rather than latitude effects.
Abstract Background Colorectal cancer is the second leading cause of cancer-related fatalities. Recent genome-wide association studies (GWAS) identified genetic loci implicated in colorectal cancer susceptibility. This study aimed to uncover genetic factors influencing colorectal cancer rates among different populations, particularly in East Asia where prevalence is increasing. Methods A total of 423 colorectal cancer-associated single-nucleotide polymorphisms (SNPs) in the GWAS catalog were examined. Allele frequencies of these SNPs were analyzed across various populations. Data on allele frequencies at the population level were sourced from the 1000 Genomes Project and the Korean Reference Genome Database. We used Fisher's exact test to determine if the effect allele at a specific SNP was significantly overrepresented or underrepresented. Results Allele frequencies varied across populations. East Asians and Koreans showed similar patterns, distinct from Europeans. They also displayed higher genetic risk scores, correlating with colorectal cancer incidence. Conclusions Disparities in allele frequencies of colorectal cancer -associated SNPs were identified across populations, particularly between Koreans and other ethnic groups. These distinctions may help elucidate the heightened colorectal cancer prevalence, primarily among Koreans and East Asians. Our study underscores that genetic dissimilarities can, in part, account for the variance in colorectal cancer occurrence among diverse population subgroups.
Clinically applicable platforms revealing actionable genomic alterations may improve the treatment efficacy of myeloma patients. In this pilot study, we used a high depth targeted sequencing panel containing 83 anti-cancer drug target genes to sequence genomic DNAs extracted from bone marrow aspirates of 23 patients with myeloma and 12 patients with amyloid light-chain (AL) amyloidosis. Mutation analysis revealed NRAS as the most commonly mutated gene (30%, 7/23) in myeloma patients followed by KRAS (26%, 6/23) and BRAF (22%, 5/23). However, no significant mutations were found in the 12 patients with AL amyloidosis. Notably, 6 of the 23 myeloma patients showed multi-site and/or multi-gene mutations in NRAS, KRAS, or BRAF, indicating compound aberrations in the Mitogen activated protein kinase (MAPK) pathway. Gene panel sequencing also revealed cytogenetic abnormalities associated with prognosis in myeloma patients. In conclusion, our pilot study suggests that targeted gene sequencing may have an important prognostic value for myeloma patients for the identification of actionable genomic alterations and cytogenetic aberrations.
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