Neoplasms, Basal Cell

肿瘤,基础细胞
  • 文章类型: Observational Study
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  • 文章类型: Case Reports
    毛滴虫瘤是豚鼠中最常见的非恶性皮肤肿瘤。虽然选择的治疗方法是手术切除,全身麻醉和大组织切除后的术后愈合和不适可能会发生并发症。我们描述了一个有意识的治疗毛滴虫瘤的病例,使用可注射利多卡因作为局部麻醉剂的微创外科手术,没有并发症和优秀的美容效果。
    Trichofolliculomas are the most common nonmalignant cutaneous tumors in guinea pigs. While the treatment of choice is surgical excision, complications may occur with general anesthesia and postoperative healing and discomfort after large tissue resection. We describe a case of a trichofolliculoma treated with a conscious, minimally invasive surgical procedure utilizing injectable lidocaine as local anesthetic, with no complications and excellent cosmetic results.
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  • 文章类型: Journal Article
    基底细胞癌(BCC)是由hedgehog信号失调引起的常见皮肤癌。BCC通常可以通过手术治愈;但是,对于眼眶和眼周BCC(opBCC),手术切除可能会危及视功能。我们最近的临床试验强调了vismodegib在opBCC患者中保留视觉器官的实用性:67%的患者在组织学上表现出完全反应。然而,进一步分析切除样本发现角蛋白阳性,刺猬激活(Gli1阳性),增生性微肿瘤。治疗前肿瘤的测序显示低频率存在的抗性赋予突变。此外,1例具有低频SMOW535L突变的患者在研究后2年复发,尽管没有残留疾病的临床证据.这种复发性肿瘤的测序显示SMOW535L突变的富集,揭示了vismodegib治疗富集了传统组织学无法检测到的抗性细胞。在靶向治疗的时代,可能有必要将分子遗传学分析与前瞻性临床试验联系起来,以提供对临床结果的机械理解.试用注册:ClinicalTrials.gov标识符:NCT02436408。
    Basal cell carcinoma (BCC) is a common skin cancer caused by deregulated hedgehog signaling. BCC is often curable surgically; however, for orbital and periocular BCCs (opBCC), surgical excision may put visual function at risk. Our recent clinical trial highlighted the utility of vismodegib for preserving visual organs in opBCC patients: 67% of patients displayed a complete response histologically. However, further analysis of excision samples uncovered keratin positive, hedgehog active (Gli1 positive), proliferative micro-tumors. Sequencing of pre-treatment tumors revealed resistance conferring mutations present at low frequency. In addition, one patient with a low-frequency SMO W535L mutation recurred two years post study despite no clinical evidence of residual disease. Sequencing of this recurrent tumor revealed an enrichment for the SMO W535L mutation, revealing that vismodegib treatment enriched for resistant cells undetectable by traditional histology. In the age of targeted therapies, linking molecular genetic analysis to prospective clinical trials may be necessary to provide mechanistic understanding of clinical outcomes. Trial Registration: ClinicalTrials.gov Identifier: NCT02436408.
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  • 文章类型: Journal Article
    尽管皮肤镜检查在皮肤科肿瘤学中的重要性快速增长,关于眼睑边缘肿瘤的皮肤镜模式还知之甚少。该研究的目的是分析眼睑边缘肿瘤的皮肤镜特征。这是一次回顾,单中心,连续研究包括皮肤科诊断的眼睑边缘肿瘤的临床和皮肤镜分析,2016年6月1日至2020年12月31日在格但斯克医科大学的性病学和变态反应学。与良性病变相比,恶性非黑色素细胞病变的皮肤镜特征明显更普遍的是睫毛生长的改变,无结构的粉红色区域,星状的米利亚囊肿,和垂直血管。相比之下,与良性黑素细胞病变相比,恶性黑素细胞病变的皮肤镜检查特征明显更高。基底细胞癌,与hiddrocystoma相比,更常见于溃疡和无结构的粉红色区域。区分基底细胞癌和皮肤痣的主要特征是溃疡的存在,睫毛生长的改变,无结构的粉红色和无结构的白色区域,和肿瘤内的垂直血管,这些特征在基底细胞癌中更常见。蓝色痣,血管瘤,或仅表现为蓝色无结构区域的色素性软骨瘤可能难以根据皮肤镜检查进行区分。该研究为评估眼睑边缘肿瘤提供了额外的皮肤镜线索。以前报道的一些观察结果是典型的基底细胞癌(例如,垂直于眼睑边缘排列的线性血管)也记录在伴随其他病例的正常眼睑边缘内,根据我们的研究,不能用作pathognomonic特征。相比之下,看起来黄色结构(半月形,星状的米利亚样囊肿)可能是重要的皮肤镜特征,尽管需要进一步的研究来证实我们的观察结果。
    Despite rapid growth in the significance of dermoscopy in dermatological oncology, relatively little is yet known about the dermoscopic patterns of eyelid margin tumors. The aim of the study was to analyze the dermoscopic features of eyelid margin tumors. This was a retrospective, single-center, consecutive study which included clinical and dermoscopic analysis of eyelid margin tumors diagnosed at the Department of Dermatology, Venereology and Allergology at the Medical University of Gdańsk from 1 June 2016 to 31 December 2020. Dermoscopic features significantly more prevalent in malignant non-melanocytic lesions compared to benign ones were alteration in eyelash growth, structureless pink areas, starry milia-like cysts, and perpendicular vessels. In contrast, there were no dermoscopic features that occurred significantly more frequently in malignant melanocytic lesions when compared to benign ones. Basal cell carcinoma, in comparison to hidrocystoma, more commonly presented with ulceration and structureless pink areas. The main features differentiating basal cell carcinoma from dermal nevus were the presence of ulceration, alteration in eyelash growth, structureless pink and structureless white areas, and perpendicular vessels within the tumor with each of these features observed more commonly in basal cell carcinoma. Blue nevus, hemangioma, or pigmented hidrocystoma presenting exclusively with blue structureless areas may be difficult to differentiate based on dermoscopy. The study offers additional dermoscopic clues in the assessment of eyelid margin tumors. Some observations reported previously to be typical of basal cell carcinoma (e.g., linear vessels arranged perpendicularly to the eyelid margin) were documented also within the normal eyelid margin accompanying other cases, and according to our study, cannot be useful as a pathognomonic feature. In contrast, it seems that yellow structures (half-moon sign, starry milia-like cysts) may be important dermoscopic features, though further studies are needed to confirm our observations.
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  • 文章类型: Journal Article
    目标:非黑色素瘤皮肤癌(NMSC)患者-即,基底细胞癌(BCC)或鳞状细胞癌(SCC)-具有发展为第二皮肤癌的风险增加。这项研究的目的是描述频率,每1000人年发病率,以及接受Mohs显微手术(MMS)治疗的NMSC患者队列中第二次皮肤癌的预测因素。
    方法:对2013年7月至2020年2月在西班牙22家医院接受MMS的NMSC患者全国队列进行前瞻性研究;病例数据记录在REGESMOHS注册中。研究变量包括人口统计学特征,在研究期间诊断出的每1000人年第二次皮肤癌的频率和发病率,和使用混合效应逻辑回归确定的危险因素。
    结果:我们分析了4768例接受MMS的患者的数据;4397(92%)患有BCC,371(8%)患有SCC。平均随访时间为2.4年。总的来说,1201例患者(25%)在随访期间发生了第二次皮肤癌;1013例肿瘤为BCC(21%),154人是SCC(3%),20例为黑色素瘤(0.4%)。任何癌症的发病率为107/1000人年(95%CI,101-113),BCC每1000人年90(95%CI,85-96),SCC每1000人年14人(95%CI,12-16),黑色素瘤每1000人年2例(95%CI,1-3)。更多的男性比女性发展为随后的皮肤癌(738[61%]对463[39%])。主要危险因素为诊断前多发肿瘤病史(相对危险度[RR],4.6;95%CI,2.9-7.1),免疫抑制(RR,2.1;95%CI,1.4-3.1),和男性(RR,1.6;95%CI,1.4-1.9)。
    结论:MMS治疗NMSC后,患者发生第二次肿瘤的风险增加。危险因素是诊断时的多发性肿瘤病史,免疫抑制,和男性。
    OBJECTIVE: Patients with nonmelanoma skin cancer (NMSC)-ie, basal cell carcinoma (BCC) or squamous cell carcinoma (SCC)-have an increased risk of developing a second skin cancer. The aim of this study was to describe the frequency, incidence per 1000 person-years, and predictors of a second skin cancer in a cohort of patients with NMSC treated with Mohs micrographic surgery (MMS).
    METHODS: Prospective study of a national cohort of patients with NMSC who underwent MMS at 22 Spanish hospitals between July 2013 and February 2020; case data were recorded in the REGESMOHS registry. The study variables included demographic characteristics, frequency and incidence per 1000 person-years of second skin cancers diagnosed during the study period, and risk factors identified using mixed-effects logistic regression.
    RESULTS: We analyzed data for 4768 patients who underwent MMS; 4397 (92%) had BCC and 371 (8%) had SCC. Mean follow-up was 2.4 years. Overall, 1201 patients (25%) developed a second skin cancer during follow-up; 1013 of the tumors were BCCs (21%), 154 were SCCs (3%), and 20 were melanomas (0.4%). The incidence was 107 per 1000 person-years (95% CI, 101-113) for any cancer, 90 per 1000 person-years (95% CI, 85-96) for BCC, 14 (95% CI, 12-16) per 1000 person-years for SCC, and 2 (95% CI, 1-3) per 1000 person-years for melanoma. More men than women developed a subsequent skin cancer (738 [61%] vs 463 [39%]). The main risk factors were a history of multiple tumors before diagnosis (relative risk [RR], 4.6; 95% CI, 2.9-7.1), immunosuppression (RR, 2.1; 95% CI, 1.4-3.1), and male sex (RR, 1.6; 95% CI, 1.4-1.9).
    CONCLUSIONS: Patients have an increased risk of developing a second tumor after MMS treatment of NMSC. Risk factors are a history of multiple tumors at diagnosis, immunosuppression, and male sex.
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  • 文章类型: Journal Article
    目标:非黑色素瘤皮肤癌(NMSC)患者-即,基底细胞癌(BCC)或鳞状细胞癌(SCC)-具有发展为第二皮肤癌的风险增加。这项研究的目的是描述频率,每1000人年发病率,以及接受Mohs显微手术(MMS)治疗的NMSC患者队列中第二次皮肤癌的预测因素。
    方法:对2013年7月至2020年2月在西班牙22家医院接受MMS的NMSC患者全国队列进行前瞻性研究;病例数据记录在REGESMOHS注册中。研究变量包括人口统计学特征,在研究期间诊断出的每1000人年第二次皮肤癌的频率和发病率,和使用混合效应逻辑回归确定的危险因素。
    结果:我们分析了4768例接受MMS的患者的数据;4397(92%)患有BCC,371(8%)患有SCC。平均随访时间为2.4年。总的来说,1201例患者(25%)在随访期间发生了第二次皮肤癌;1013例肿瘤为BCC(21%),154人是SCC(3%),20例为黑色素瘤(0.4%)。任何癌症的发病率为107/1000人年(95%CI,101-113),BCC每1000人年90(95%CI,85-96),SCC每1000人年14人(95%CI,12-16),黑色素瘤每1000人年2例(95%CI,1-3)。更多的男性比女性发展为随后的皮肤癌(738[61%]对463[39%])。主要危险因素为诊断前多发肿瘤病史(相对危险度[RR],4.6;95%CI,2.9-7.1),免疫抑制(RR,2.1;95%CI,1.4-3.1),和男性(RR,1.6;95%CI,1.4-1.9)。
    结论:MMS治疗NMSC后,患者发生第二次肿瘤的风险增加。危险因素是诊断时的多发性肿瘤病史,免疫抑制,和男性。
    OBJECTIVE: Patients with nonmelanoma skin cancer (NMSC)-ie, basal cell carcinoma (BCC) or squamous cell carcinoma (SCC)-have an increased risk of developing a second skin cancer. The aim of this study was to describe the frequency, incidence per 1000 person-years, and predictors of a second skin cancer in a cohort of patients with NMSC treated with Mohs micrographic surgery (MMS).
    METHODS: Prospective study of a national cohort of patients with NMSC who underwent MMS at 22 Spanish hospitals between July 2013 and February 2020; case data were recorded in the REGESMOHS registry. The study variables included demographic characteristics, frequency and incidence per 1000 person-years of second skin cancers diagnosed during the study period, and risk factors identified using mixed-effects logistic regression.
    RESULTS: We analyzed data for 4768 patients who underwent MMS; 4397 (92%) had BCC and 371 (8%) had SCC. Mean follow-up was 2.4 years. Overall, 1201 patients (25%) developed a second skin cancer during follow-up; 1013 of the tumors were BCCs (21%), 154 were SCCs (3%), and 20 were melanomas (0.4%). The incidence was 107 per 1000 person-years (95% CI, 101-113) for any cancer, 90 per 1000 person-years (95% CI, 85-96) for BCC, 14 (95% CI, 12-16) per 1000 person-years for SCC, and 2 (95% CI, 1-3) per 1000 person-years for melanoma. More men than women developed a subsequent skin cancer (738 [61%] vs 463 [39%]). The main risk factors were a history of multiple tumors before diagnosis (relative risk [RR], 4.6; 95% CI, 2.9-7.1), immunosuppression (RR, 2.1; 95% CI, 1.4-3.1), and male sex (RR, 1.6; 95% CI, 1.4-1.9).
    CONCLUSIONS: Patients have an increased risk of developing a second tumor after MMS treatment of NMSC. Risk factors are a history of multiple tumors at diagnosis, immunosuppression, and male sex.
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  • 文章类型: Evaluation Study
    UNASSIGNED: Single-cell RNA-seq has become a powerful tool to understand tumor cell heterogenicity. This study tried to screen prognosis-related genes in basal-like breast tumors and evaluate their correlations with cellular states at the single-cell level.Bulk RNA-seq data of basal-like tumor cases from The Cancer Genome Atlas-Breast Cancer (TCGA-BRCA) and single-cell RNA-seq from GSE75688 were retrospectively reviewed. Kaplan-Meier survival curves, univariate and multivariate analysis based on Cox regression model were conducted for survival analysis. Gene set enrichment analysis (GSEA) and single-cell cellular functional state analysis were performed.Twenty thousand five hundred thirty genes with bulk RNA-seq data in TCGA were subjected to screening. Preliminary screening identified 10 candidate progression-related genes, including CDH19, AQP5, SDR16C5, NCAN, TTYH1, XAGE2, RIMS2, GZMB, LY6D, and FAM3B. By checking their profiles using single-cell RNA-seq data, only CDH19, SDR16C5, TTYH1, and RIMS2 had expression in primary triple-negative breast cancer (TNBC) cells. Prognostic analysis only confirmed that RIMS2 expression was an independent prognostic indicator of favorable progression free survival (PFS) (HR: 0.78, 95%: 0.64-0.95, P  = .015). GSEA analysis showed that low RIMS2 group expression had genes significantly enriched in DNA Repair, and MYC Targets V2. Among the 89 basal-like cells, RIMS2 expression was negatively correlated with DNA repair and epithelial-to-mesenchymal transition (EMT).RIMS2 expression was negatively associated with DNA repair capability of basal-like breast tumor cells and might serve as an independent indicator of favorable PFS.
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  • 文章类型: Journal Article
    BACKGROUND: Basal cell carcinomas (BCCs) have previously been treated off-label with ingenol mebutate (IM). Ablative fractional laser (AFL) may improve efficacy of IM by increasing drug uptake in the tumour. Optical coherence tomography (OCT) and reflectance confocal microscopy (RCM) detect BCC non-invasively. Our aim was to investigate BCC response and tolerability after combined AFL and IM treatment of low-risk BCCs.
    METHODS: Twenty patients with histologically verified superficial (n = 7) and nodular (n = 13) BCCs were treated with combined fractional CO2 -laser (10 600 nm) and IM 0.015% or 0.05%, the concentration depending on anatomical location. BCC response was evaluated clinically, by OCT and RCM at day 29 and 90 after first treatment, and histologically at day 90. Treatment was repeated at day 29 if BCC persisted. Local skin reactions (LSRs) were assessed using LSR scale at all visits.
    RESULTS: At day 29, 18/20 patients received a second treatment due to residual BCC detected clinically, by OCT or RCM. OCT and RCM presented subclinical BCCs in five of 20 cases (25%). At day 90, overall histological cure rate was 70%, corresponding to clinical (65%) and OCT/RCM (60%) cure rates, and agreement between evaluation methods was substantial (kappa ≥ 0.796, P < 0.0001). Clearance rates were similar for sBCCs and nBCCs (P = 0.354) and for lesions treated with IM 0.015% and 0.05% (P = 0.141). LSRs were tolerable, but scarring was observed in the majority of cleared patients.
    CONCLUSIONS: Two treatments of combined AFL and IM show potential to treat low-risk BCCs with acceptable tolerability. OCT and RCM show promise to detect subclinical BCCs at short-term follow-up.
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  • 文章类型: Clinical Trial
    BACKGROUND: Solar UVR is a major cause of skin cancer but also an important source of vitamin D (VitD), essential for musculoskeletal health. Conflicting public health messages may confuse patients with skin cancer prone to further skin cancer.
    OBJECTIVE: To explore the knowledge, behaviour and attitudes of patients with skin cancer to sunlight exposure and VitD sources.
    METHODS: Patients (n = 10) previously treated for multiple basal cell cancer in a hospital setting participated in focus group sessions with semi-structured discussions to explore: knowledge of VitD, sun-avoidance behaviour and attitude towards sunlight exposure messages. Thematic data analysis was performed using software programme MAXQDA11.
    RESULTS: Pre-existing knowledge of VitD was low. Most patients practised sun avoidance and were not inclined to increase exposure. Patients did not perceive VitD deficiency as a substantial risk to their own health, or a need to take VitD supplements. They aimed to increase VitD status through dietary intake, but knowledge of food VitD content was lacking.
    CONCLUSIONS: The patients with skin cancer, appropriate to their heightened skin cancer risk, appeared unlikely to increase their sun exposure to gain VitD. However, education is required regarding the generally low levels of VitD in foodstuffs, and the requirement for supplements/fortified foods if strict sun avoidance is employed.
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  • 文章类型: Case Reports
    背景:转移是癌症患者死亡的主要原因,并且仍然是一个特征不清的过程。目前尚不清楚在肿瘤进展中何时出现转移能力,以及这种能力是原发性肿瘤固有的还是在原发性肿瘤形成后很好地获得的。定义克隆异质性的下一代测序和分析方法提供了用于识别个体内原发性和转移性肿瘤中的遗传事件和这些事件之间的时间关系的手段。
    结果:我们对两个原发性肿瘤进行了DNA全基因组和mRNA测序,每个都有四个或五个不同的组织部位特异性转移,来自两个患有三阴性/基底样乳腺癌的个体。正如他们的案例历史所证明的那样,每位患者的病程均为侵袭性病程,生存期缩短.在每个病人中,整体基因表达特征,DNA拷贝数模式,和体细胞突变模式在每个原发性肿瘤及其相关转移中高度相似。在原发灶中发现的几乎所有突变都是在转移灶中发现的(对于两名患者,52/54和75/75)。在每个肿瘤中都发现了许多这些突变(分别为11/54和65/75)。此外,每个转移的转移特异性事件较少,并且与原发肿瘤共享至少50%的体细胞突变库,并通过基因表达聚类分析将每位患者的所有样本分组在一起。TP53是两个患者之间唯一的共同突变基因,并且在这项研究中存在于每个肿瘤中。引人注目的是,每个转移都是由多克隆接种而不是单一来源的细胞引起的,很少有新的突变,只存在于转移灶中,在mRNA中表达。由于这两名患者之间的临床差异以及我们研究的样本量小,这些发现的普遍性需要在更大的患者队列中进一步检查.
    结论:我们的研究结果表明,多克隆接种可能在基底样乳腺癌中很常见。在这两个病人中,原发性肿瘤中的突变和DNA拷贝数变化似乎对转移潜力有生物学影响,而转移中出现的突变更有可能是乘客。
    BACKGROUND: Metastasis is the main cause of cancer patient deaths and remains a poorly characterized process. It is still unclear when in tumor progression the ability to metastasize arises and whether this ability is inherent to the primary tumor or is acquired well after primary tumor formation. Next-generation sequencing and analytical methods to define clonal heterogeneity provide a means for identifying genetic events and the temporal relationships between these events in the primary and metastatic tumors within an individual.
    RESULTS: We performed DNA whole genome and mRNA sequencing on two primary tumors, each with either four or five distinct tissue site-specific metastases, from two individuals with triple-negative/basal-like breast cancers. As evidenced by their case histories, each patient had an aggressive disease course with abbreviated survival. In each patient, the overall gene expression signatures, DNA copy number patterns, and somatic mutation patterns were highly similar across each primary tumor and its associated metastases. Almost every mutation found in the primary was found in a metastasis (for the two patients, 52/54 and 75/75). Many of these mutations were found in every tumor (11/54 and 65/75, respectively). In addition, each metastasis had fewer metastatic-specific events and shared at least 50% of its somatic mutation repertoire with the primary tumor, and all samples from each patient grouped together by gene expression clustering analysis. TP53 was the only mutated gene in common between both patients and was present in every tumor in this study. Strikingly, each metastasis resulted from multiclonal seeding instead of from a single cell of origin, and few of the new mutations, present only in the metastases, were expressed in mRNAs. Because of the clinical differences between these two patients and the small sample size of our study, the generalizability of these findings will need to be further examined in larger cohorts of patients.
    CONCLUSIONS: Our findings suggest that multiclonal seeding may be common amongst basal-like breast cancers. In these two patients, mutations and DNA copy number changes in the primary tumors appear to have had a biologic impact on metastatic potential, whereas mutations arising in the metastases were much more likely to be passengers.
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