Pigment Cell & Melanoma Research最新文献_第5页

X and Y Differences in Melanoma Survival Between the Sexes 男女黑色素瘤存活率的 X 和 Y 差异。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-08-23 DOI: 10.1111/pcmr.13194

Peter Hersey, Hsin-Yi Tseng, Sara Alavi, Jessamy Tiffen

{"title":"X and Y Differences in Melanoma Survival Between the Sexes","authors":"Peter Hersey, Hsin-Yi Tseng, Sara Alavi, Jessamy Tiffen","doi":"10.1111/pcmr.13194","DOIUrl":"10.1111/pcmr.13194","url":null,"abstract":"Marked differences in survival from melanoma are noted between men and women that cannot be accounted for by behavioral differences. We and others have provided evidence that this difference may be due to increased expression of immune-related genes from the second X chromosome because of failure of X inactivation. In the present review, we have examined evidence for the contrary view that survival differences are due to weaker immune responses in males. One reason for this may be the loss of Y chromosomes (LOY), particularly in older males. The genes involved may have direct roles in immune responses or be noncoding RNAs that regulate both sex and autosomal genes involved in immune responses or tumor growth. Loss of the KDM6C and KDM5D demethylases appeared to common genes involved. The second factor appears to be the activation of androgen receptors (AR) on melanoma cells that increase their invasiveness and growth. Induction of T-cell exhaustion by AR that limits immune responses against melanoma appeared a common finding. The development of treatments to overcome effects related to gene loss on Y poses challenges, but several avenues related to AR signaling appear worthy of further study in the treatment of metastatic disease.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11681842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142046040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Photobiomodulation Using 830 nm Lighting-Emitting Diode Inhibits Melanogenesis via FOXO3a in Human Melanocyte 使用 830 纳米发光二极管进行光生物调节可通过 FOXO3a 抑制人类黑色素细胞的黑色素生成

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-08-21 DOI: 10.1111/pcmr.13193

Yanjun Dan, Li Chen, Shanglin Jin, Xiaoxue Xing, Yijian Zhu, Min Jiang, Chengfeng Zhang, Leihong Flora Xiang

{"title":"Photobiomodulation Using 830 nm Lighting-Emitting Diode Inhibits Melanogenesis via FOXO3a in Human Melanocyte","authors":"Yanjun Dan, Li Chen, Shanglin Jin, Xiaoxue Xing, Yijian Zhu, Min Jiang, Chengfeng Zhang, Leihong Flora Xiang","doi":"10.1111/pcmr.13193","DOIUrl":"10.1111/pcmr.13193","url":null,"abstract":"<div>\u0000 \u0000 Photobiomodulation (PBM) using 830 nm light-emitting diode (LED) benefits tissue regeneration, wound healing and neural stimulation. However, there is not much exploration of its effect on melanocytes and ex vivo skin model. This study aims to investigate the mechanism behind the anti-melanogenic activity of 830 nm LED and provides evidence for its activity in human ex vivo skin model. Our results showed that 830 nm LED at fluences ranging from 5 to 20 J/cm2 inhibited melanosome maturation and reduced melanin content, tyrosinase activity and melanogenesis-related proteins. 830 nm LED inhibited the phosphorylation of AKT and its downstream FOXO3a, leading to nuclear translocation of FOXO3a. Furthermore, FOXO3a knockdown and AKT activator like SC79 could reverse the melanogenesis inhibition phenotype induced by 830 nm LED. In human ex vivo skin model, Fontana–Masson staining revealed a decrease in epidermal basal pigmentation after 830 nm LED irradiation. Taken together, 830 nm LED demonstrated the anti-melanogenic activity via FOXO3a.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 5","pages":"681-692"},"PeriodicalIF":3.9,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142015817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparative Transcriptome Analysis Reveals Differential Cutaneous Gene Expression in the Color Variation of Two Ornamental Discus, Red Melon and Red Cover 比较转录组分析揭示了红瓜和红盖两种观赏蝶形花颜色变异中不同的皮肤基因表达。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-08-14 DOI: 10.1111/pcmr.13190

Tian Tsyh Ng, Cher Chien Lau, Min Pau Tan, Li Lian Wong, Yeong Yik Sung, Tengku Sifzizul Tengku Muhammad, Sui Liying, Muhd Danish-Daniel

{"title":"Comparative Transcriptome Analysis Reveals Differential Cutaneous Gene Expression in the Color Variation of Two Ornamental Discus, Red Melon and Red Cover","authors":"Tian Tsyh Ng, Cher Chien Lau, Min Pau Tan, Li Lian Wong, Yeong Yik Sung, Tengku Sifzizul Tengku Muhammad, Sui Liying, Muhd Danish-Daniel","doi":"10.1111/pcmr.13190","DOIUrl":"10.1111/pcmr.13190","url":null,"abstract":"<div>\u0000 \u0000 Red Melon (RM) and Red Cover (RC) discus (Symphysodon spp.) are ornamental fish varieties that were selectively bred from the wild parental lineages of the brown discus S. aquafaciatus over many generations, resulting in distinct cutaneous patterns from juveniles to adults. To better understand the underlying mechanisms, skin samples were collected from juveniles aged 60 days and adults aged 1 year from RM and RC for investigations. Microscopic observation detected xanthophores and erythrophores in all samples, except RC juveniles with no erythrophores. Melanophores were presented only in RC. The comparative analysis revealed that genes involved in pteridine synthesis (gch1 and zgc:153031), one-carbon metabolism (aldh1l2 and zgc153031), and lipid metabolism (apoda and klf1) were differentially expressed in RM juveniles, which may be associated with the development of erythrophores and xanthophores. The temporal inhibition of melanophore differentiation and development was observed in RM juveniles, coupled with elevated expression of notum2 and sost, two antagonist genes in Wnt-signaling, suggesting their roles in melanophore development. Distinct pigment pattern between RM and RC since the juvenile stage may be driven by the differential expression of multiple axial developmental genes, including GATA, ankyrin, and mitotic spindle orientation proteins. This is the first report to describe the differential growth of cutaneous pigments and the molecular processes involved in red discus. The results provided valuable insights into pigment pattern differences in an interesting ornamental fish model.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"881-888"},"PeriodicalIF":3.9,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141974693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The prognostic implications of cuproptosis-related gene signature and the potential of PPIC as a promising biomarker in cutaneous melanoma 杯突相关基因特征对预后的影响以及 PPIC 作为皮肤黑色素瘤生物标志物的潜力。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-08-08 DOI: 10.1111/pcmr.13185

Bin Zhou, Shanshan Sha, Qi Wang, Shuomin Sun, Juan Tao, Jinjin Zhu, Liyun Dong

{"title":"The prognostic implications of cuproptosis-related gene signature and the potential of PPIC as a promising biomarker in cutaneous melanoma","authors":"Bin Zhou, Shanshan Sha, Qi Wang, Shuomin Sun, Juan Tao, Jinjin Zhu, Liyun Dong","doi":"10.1111/pcmr.13185","DOIUrl":"10.1111/pcmr.13185","url":null,"abstract":"Cutaneous melanoma is the most lethal of all skin tumors. Recently, cuproptosis, a novel form of cell death linked to oxidative phosphorylation, has emerged as an important factor. However, the precise role of cuproptosis in melanoma remains unclear. Our research explored the potential links between cuproptosis-related genes, prognosis, immune microenvironments, and melanoma treatments. Significantly, cuproptosis regulators showed remarkable differences between melanoma and normal tissues, establishing their relevance to melanoma. The newly developed cuproptosis-related gene signature (CGS) demonstrated a robust ability to predict overall survival (OS) in melanoma. We constructed a novel nomogram that combined clinical features with CGS to improve predictive accuracy. In addition, the study revealed correlations between CGS and immune cell populations, including CD8+T cells, Tfh cells, B cells, and myeloid-derived suppressor cells. Within the CGS, Peptidylprolyl isomerase C (PPIC) emerged as the most strongly associated with poor prognosis and drug resistance in melanoma. PPIC was identified as a promoter of melanoma progression, enhancing cell invasiveness while concurrently suppressing CD8+T cell activation. This comprehensive study not only elucidated the intricate connections between CGS, melanoma prognosis, immune microenvironment, and drug resistance but also provided compelling evidence supporting PPIC as a promising biomarker for predicting OS in melanoma treatment.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"864-880"},"PeriodicalIF":3.9,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141900259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The classification of melanocytic gene signatures 黑色素细胞基因特征的分类。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-07-28 DOI: 10.1111/pcmr.13189

Min Hu, Samuel Coleman, Robert L. Judson-Torres, Aik Choon Tan

{"title":"The classification of melanocytic gene signatures","authors":"Min Hu, Samuel Coleman, Robert L. Judson-Torres, Aik Choon Tan","doi":"10.1111/pcmr.13189","DOIUrl":"10.1111/pcmr.13189","url":null,"abstract":"Gene expression profiling technologies have revolutionized cell biology, enabling researchers to identify gene signatures linked to various biological attributes of melanomas, such as pigmentation status, differentiation state, proliferative versus invasive capacity, and disease progression. Although the discovery of gene signatures has significantly enhanced our understanding of melanocytic phenotypes, reconciling the numerous signatures reported across independent studies and different profiling platforms remains a challenge. Current methods for classifying melanocytic gene signatures depend on exact gene overlap and comparison with unstandardized baseline transcriptomes. In this study, we aimed to categorize published gene signatures into clusters based on their similar patterns of expression across clinical cutaneous melanoma specimens. We analyzed nearly 800 melanoma samples from six gene expression repositories and developed a classification framework for gene signatures that is resilient against biases in gene identification across profiling platforms and inconsistencies in baseline standards. Using 39 frequently cited published gene signatures, our analysis revealed seven principal classes of gene signatures that correlate with previously identified phenotypes: Differentiated, Mitotic/MYC, AXL, Amelanotic, Neuro, Hypometabolic, and Invasive. Each class is consistent with the phenotypes that the constituent gene signatures represent, and our classification method does not rely on overlapping genes between signatures. To facilitate broader application, we created WIMMS (what is my melanocytic signature, available at https://wimms.tanlab.org/), a user-friendly web application. WIMMS allows users to categorize any gene signature, determining its relationship to predominantly cited signatures and its representation within the seven principal classes.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"854-863"},"PeriodicalIF":3.9,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.13189","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141786667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Causes of death and patterns of metastatic disease at the end of life for patients with advanced melanoma in the immunotherapy era 免疫疗法时代晚期黑色素瘤患者临终时的死亡原因和转移性疾病模式。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-07-28 DOI: 10.1111/pcmr.13188

Daniel Y. Lee, Madeline McNamara, Alexander Yang, Maxim Yaskolko, Harriet Kluger, Thuy Tran, Kelly Olino, James Clune, Mario Sznol, Jeffrey J. Ishizuka

{"title":"Causes of death and patterns of metastatic disease at the end of life for patients with advanced melanoma in the immunotherapy era","authors":"Daniel Y. Lee, Madeline McNamara, Alexander Yang, Maxim Yaskolko, Harriet Kluger, Thuy Tran, Kelly Olino, James Clune, Mario Sznol, Jeffrey J. Ishizuka","doi":"10.1111/pcmr.13188","DOIUrl":"10.1111/pcmr.13188","url":null,"abstract":"Despite remarkable advances in immunotherapy, melanoma remains a significant cause of cancer mortality. Many factors concerning melanoma mortality are poorly understood, posing an obstacle to optimal care. We conducted a retrospective observational cohort study of 183 patients with metastatic melanoma who died following immunotherapy treatment to investigate sites of metastases at death, settings of death, and mechanisms of death. The median time from metastatic diagnosis to death was 16.1 months (range 0.3–135.1 months). Most patients experienced hospitalization within 3 months before death (80.3%), with 31.7% dying while hospitalized, 31.2% while in inpatient hospice, and 29.4% while in home hospice. The most common sites of metastases at death were distant lymph nodes (62.8%), lung (57.9%), liver (50.8%), brain (38.8%), and bone (37.7%). The most common causes of death were progressive failure to thrive (57.5%), respiratory failure (22.4%), and infection (21.8%); the vast majority (87.9%) of patients died from melanoma-specific causes. Overall, 10.9% of patients in our cohort had survival >5 years after metastatic diagnosis, and 76.2% of long-term survivors died due to melanoma. This study describes factors associated with melanoma mortality, highlighting an ongoing need for therapeutic advancements.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"847-853"},"PeriodicalIF":3.9,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141786666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Conventional suspension delivery versus tattooing pen-assisted suspension delivery in non-cultured epidermal cell suspension procedure for vitiligo: A randomized controlled trial 在治疗白癜风的非培养表皮细胞悬浮术中，传统悬浮给药法与纹身笔辅助悬浮给药法的比较：随机对照试验。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-07-19 DOI: 10.1111/pcmr.13187

Akshay Meena, Keshavamurthy Vinay, Muthu Sendhil Kumaran, Sheetanshu Kumar, Anuradha Bishnoi, Davinder Parsad

{"title":"Conventional suspension delivery versus tattooing pen-assisted suspension delivery in non-cultured epidermal cell suspension procedure for vitiligo: A randomized controlled trial","authors":"Akshay Meena, Keshavamurthy Vinay, Muthu Sendhil Kumaran, Sheetanshu Kumar, Anuradha Bishnoi, Davinder Parsad","doi":"10.1111/pcmr.13187","DOIUrl":"10.1111/pcmr.13187","url":null,"abstract":"Non-cultured epidermal suspension (NCES) is one of the most widely used surgical therapy for stable vitiligo patients in which recipient size preparation plays an important role in the outcome of NCES. The primary objective is to evaluate and compare the efficacy and safety of conventional suspension delivery after manual dermabrasion (CSMD) versus tattooing pen-assisted suspension delivery (TPSD) in NCES. Paired vitiligo units (VU) in 36 patients, matched with respect to size and location were divided into two groups. The VU in Group 1 underwent suspension delivery by CSMD while the VU in Group 2 underwent same by TPSD. All the VU were followed up at regular intervals until 24 weeks. At the end of 24 weeks, 31 VU (86.1%) in Group 1 achieved >75% repigmentation which was significantly higher (p = .02, chi-square test) as compared to 22 VU (61.1%) in Group 2. The color matching in both the groups VU was also comparable (p = .84, chi-square test). The patient global assessment (PGA) was significantly higher in Group 1 VU as compared to Group 2. Treatment response in terms of repigmentation and PGA was significantly better in VU treated with CSMD as compared to TPSD. Recipient site complications were seen more commonly in Group 1 VU as compared to Group 2. Perilesional halo at the recipient site was seen in none of the VU in Group 2 which was significantly lower than 6 VU in Group 1 than (p = .02, chi-square test). Better results may be possible with technical improvisations in tattooing pen needle diameter and depth of penetration.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"839-846"},"PeriodicalIF":3.9,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141730865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prognostic value of clinical and radiomic parameters in patients with liver metastases from uveal melanoma 葡萄膜黑色素瘤肝转移患者临床和放射学参数的预后价值。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-07-12 DOI: 10.1111/pcmr.13184

Mael Lever, Simon Bogner, Melina Giousmas, Fabian D. Mairinger, Hideo A. Baba, Heike Richly, Tanja Gromke, Martin Schuler, Nikolaos E. Bechrakis, Halime Kalkavan

{"title":"Prognostic value of clinical and radiomic parameters in patients with liver metastases from uveal melanoma","authors":"Mael Lever, Simon Bogner, Melina Giousmas, Fabian D. Mairinger, Hideo A. Baba, Heike Richly, Tanja Gromke, Martin Schuler, Nikolaos E. Bechrakis, Halime Kalkavan","doi":"10.1111/pcmr.13184","DOIUrl":"10.1111/pcmr.13184","url":null,"abstract":"Approximately every second patient with uveal melanoma develops distant metastases, with the liver as the predominant target organ. While the median survival after diagnosis of distant metastases is limited to a year, yet-to-be-defined subgroups of patients experience a more favorable outcome. Therefore, prognostic biomarkers could help identify distinct risk groups to guide patient counseling, therapeutic decision-making, and stratification of study populations. To this end, we retrospectively analyzed a cohort of 101 patients with newly diagnosed hepatic metastases from uveal melanoma by using Cox-Lasso regression machine learning, adapted to a high-dimensional input parameter space. We show that substantial binary risk stratification can be performed, based on (i) clinical and laboratory parameters, (ii) measures of quantitative overall hepatic tumor burden, and (iii) radiomic parameters. Yet, combining two or all three domains failed to improve prognostic separation of patients. Additionally, we identified highly relevant clinical parameters (including lactate dehydrogenase, thrombocyte counts, aspartate transaminase, and the metastasis-free interval) at first diagnosis of metastatic disease as predictors for time-to-treatment failure and overall survival. Taken together, the risk stratification models, built by our machine-learning algorithm, identified a comparable and independent prognostic value of clinical, radiological, and radiomic parameters in uveal melanoma patients with hepatic metastases.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"831-838"},"PeriodicalIF":3.9,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.13184","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Detection of cell-free tumor DNA in cerebrospinal fluid as a diagnostic biomarker for leptomeningeal melanoma metastasis: A case series 检测脑脊液中的游离细胞肿瘤 DNA 作为脑膜黑色素瘤转移的诊断生物标志物：病例系列。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-07-11 DOI: 10.1111/pcmr.13186

Iris Dirven, Manon Vounckx, Jolien I. Kessels, Justine Lauwyck, Gil Awada, Anne-Marie Vanbinst, Bart Neyns

{"title":"Detection of cell-free tumor DNA in cerebrospinal fluid as a diagnostic biomarker for leptomeningeal melanoma metastasis: A case series","authors":"Iris Dirven, Manon Vounckx, Jolien I. Kessels, Justine Lauwyck, Gil Awada, Anne-Marie Vanbinst, Bart Neyns","doi":"10.1111/pcmr.13186","DOIUrl":"10.1111/pcmr.13186","url":null,"abstract":"Leptomeningeal melanoma metastases (LMM) are associated with poor survival. Diagnosis is based on clinical presentation, brain MRI and cerebrospinal fluid (CSF) analysis. Inconclusive findings at initial presentation can delay treatment. In this single-center case series, detection of BRAFV600- and NRASQ61-mutant cell-free tumor DNA (cfDNA) in CSF was evaluated as a complementary diagnostic biomarker. In 12 patients with clinical suspicion of LMM, a retrospective analysis of MRI, CSF cytology and cfDNA analysis on 1 mL of CSF using the Idylla® platform was carried out. Nine patients displayed MRI abnormalities suggesting LMM. CSF analysis identified malignant cells in three patients (including one without MRI abnormalities). BRAFV600- or NRASQ61-mutant cfDNA was detected in CSF of nine patients (eight with and one without MRI abnormalities; all patients with positive CSF cytology). Subsequent follow-up confirmed LMM in all patients with positive and in one patient with a negative CSF cfDNA analysis (sensitivity 81.8%; specificity 100%). Our findings suggest that analyzing BRAFV600- and NRASQ61-mutant cfDNA in CSF using the Idylla® platform holds promise as a sensitive and specific complementary diagnostic biomarker for LMM, particularly in case of inconsistency between imaging and CSF cytology. The 110-min analysis can facilitate urgent treatment decisions.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"822-830"},"PeriodicalIF":3.9,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genome wide association study and meta-analysis identified multiple new risk loci for freckles in 4813 Chinese individuals 全基因组关联研究和荟萃分析在 4813 名中国人中发现了多个新的雀斑风险位点。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-07-06 DOI: 10.1111/pcmr.13183

Sihan Luo, Zhuo Li, Minhao Wang, Zhili Liu, Daiyue Wang, Yuanming Bai, Huiyao Ge, Yafen Yu, Yanxia Yu, Weiwei Chen, Yirui Wang, Chang Zhang, Jing Yu, Can Song, Chengzhi Lv, Qi Zhen, Yang Han, Liangdan Sun

引用次数: 0