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Acral lentiginous melanoma (ALM) is the most common subtype of acral melanoma. Even though recent genetic studies are reported in acral melanomas, the genetic differences between in-situ and invasive ALM remain unclear. We aimed to analyze specific genetic changes in ALM and compare genetic differences between in-situ and invasive lesions to identify genetic changes associated with the pathogenesis and progression of ALM. We performed whole genome sequencing of 71 tissue samples from 29 patients with ALM. Comparative analyses were performed, pairing in-situ ALMs with normal tissues and, furthermore, invasive ALMs with normal and in-situ tissues. Among 21 patients with in-situ ALMs, 3 patients (14.3%) had SMIM14 , SLC9B1 , FRG1 , FAM205A , ESRRA , and ESPN mutations, and copy number (CN) gains were identified in only 2 patients (9.5%). Comparing 13 invasive ALMs with in-situ tissues, CN gains were identified in GAB2 in 8 patients (61.5%), PAK1 in 6 patients (46.2%), and UCP2 and CCND1 in 5 patients (38.5%). Structural variants were frequent in in-situ and invasive ALM lesions. Both in-situ and invasive ALMs had very low frequencies of common driver mutations. Structural variants were common in both in-situ and invasive ALMs. Invasive ALMs had markedly increased CN gains, such as GAB2 , PAK1 , UCP2 , and CCND1 , compared with in-situ lesions. These results suggest that they are associated with melanoma invasion.
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Biomarcadores Tumorais , Ciclina D1 , Variações do Número de Cópias de DNA , Melanoma , Invasividade Neoplásica , Neoplasias Cutâneas , Sequenciamento Completo do Genoma , Quinases Ativadas por p21 , Humanos , Melanoma/genética , Melanoma/patologia , Masculino , Feminino , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Quinases Ativadas por p21/genética , Pessoa de Meia-Idade , Idoso , Ciclina D1/genética , Biomarcadores Tumorais/genética , Adulto , Proteínas Adaptadoras de Transdução de Sinal/genética , Idoso de 80 Anos ou mais , Predisposição Genética para Doença , Mutação , Fenótipo , Proteína Desacopladora 2RESUMO
Drivers of Spitz neoplasms include activating point mutations in HRAS and Spitz-associated genomic fusions. It has become evident that some BRAF -mutated melanocytic neoplasms can morphologically mimic Spitz tumors (STs). These have been termed BRAF mutated and morphologically spitzoid (BAMS). In this study, 17 experts from the International Melanoma Pathology Study Group assessed 54 cases which included 40 BAMS and 14 true STs. The participants reviewed the cases blinded to the genomic data and selected among several diagnostic options, including BAMS, ST, melanoma, and other. A total of 38% of all diagnostic selections in the BAMS cases were for BAMS, whereas 32% were for ST. In 22 of the BAMS cases, the favored diagnosis was BAMS, whereas in 17 of the BAMS cases, the favored diagnosis was ST. Among the 20 cases in the total group of 54 with the highest number of votes for ST, half were BAMS. Of BAMS, 75% had a number of votes for ST that was within the SD of votes for ST seen among true ST cases. There was poor interobserver agreement for the precise diagnosis of the BAMS (kappa = 0.16) but good agreement that these cases were not melanoma (kappa = 0.7). BAMS nevi/tumors can closely mimic Spitz neoplasms. Expert melanoma pathologists in this study favored a diagnosis of ST in nearly half of the BAMS cases. There are BAMS cases that even experts cannot morphologically distinguish from true Spitz neoplasms.
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Melanoma , Nevo de Células Epitelioides e Fusiformes , Nevo , Neoplasias Cutâneas , Humanos , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Proteínas Proto-Oncogênicas B-raf/genética , Nevo de Células Epitelioides e Fusiformes/diagnóstico , Nevo de Células Epitelioides e Fusiformes/genética , Nevo/diagnóstico , Diagnóstico DiferencialRESUMO
Epidermal hyperinnervation is a critical feature of pruritus during skin inflammation. However, the mechanisms underlying epidermal hyperinnervation are unclear. This study investigates the role of the transcription factor EGR1 in epidermal innervation by utilizing wild-type (Egr1+/+) and Egr1-null (Egr1â/â) mice topically applied Dermatophagoides farinae extract from dust mite. Our findings revealed that Egr1â/â mice exhibited reduced scratching behaviors and decreased density of epidermal innervation compared with Egr1+/+ mice. Furthermore, we identified artemin, a neurotrophic factor, as an EGR1 target responsible for Dermatophagoides farinae extract-induced hyperinnervation. It has been demonstrated that Dermatophagoides farinae extract stimulates toll-like receptors in keratinocytes. To elucidate the cellular mechanism, we stimulated keratinocytes with Pam3CSK4, a toll-like receptor 1/2 ligand. Pam3CSK4 triggered a toll-like receptor 1/2-mediated signaling cascade involving IRAK4, IκB kinase, MAPKs, ELK1, EGR1, and artemin, leading to increased neurite outgrowth and neuronal migration. In addition, increased expression of EGR1 and artemin was observed in the skin tissues of patients with atopic dermatitis. These findings highlight the significance of the EGR1-artemin axis in keratinocytes, promoting the process of epidermal innervation and suggesting it as a potential therapeutic target for alleviating itch and pain associated with house dust mite-induced skin inflammation.
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Proteína 1 de Resposta de Crescimento Precoce , Epiderme , Queratinócitos , Proteínas do Tecido Nervoso , Células Receptoras Sensoriais , Animais , Queratinócitos/metabolismo , Camundongos , Proteínas do Tecido Nervoso/metabolismo , Epiderme/inervação , Epiderme/metabolismo , Proteína 1 de Resposta de Crescimento Precoce/metabolismo , Proteína 1 de Resposta de Crescimento Precoce/genética , Células Receptoras Sensoriais/metabolismo , Dermatophagoides farinae/imunologia , Prurido/imunologia , Prurido/etiologia , Prurido/metabolismo , Modelos Animais de Doenças , Humanos , Antígenos de Dermatophagoides/imunologia , Transdução de Sinais , Camundongos Knockout , Masculino , Dermatite Atópica/imunologia , Dermatite Atópica/metabolismo , Dermatite Atópica/patologiaRESUMO
Cutaneous melanoma, a highly aggressive skin tumor, is characterized by complex signaling pathways in terms of its pathogenesis and progression. Although the degree of pigmentation in melanoma determines its progression, metastasis, and prognosis, its association with inflammatory cytokines remains unclear. Thus, we evaluated the associations between melanoma pigmentation and plasma levels of inflammatory cytokines; furthermore, we investigated the potential variations in this relationship across the primary anatomic sites of melanoma. We enrolled patients with cutaneous melanoma who visited Chonnam National University Hwasun Hospital between January 2021 and December 2021. The anatomical sites of melanoma were categorized as acral and non-acral sites. The degree of pigmentation was quantified using computer software. In total, nine inflammatory cytokines were analyzed, including interleukin (IL)-2, IL-4, IL-5, IL-10, IL-12, IL-13, granulocyte-macrophage colony-stimulating factor (GM-CSF), interferon-γ (IFN-γ), and tumor necrosis factor-α (TNF-α). This study included 80 melanoma patients. Of these, 53 had acral melanoma and 27 had non-acral melanoma. Overall, plasma concentrations of IL-2, IL-4, IL-5, GM-CSF, and IFN-γ demonstrated significant correlations with diminished pigmentation. Furthermore, in the acral melanoma patients group, plasma concentrations of IL-2, IL-4, IL-5, GM-CSF, IFN-γ, and TNF-α revealed significant correlations with diminished pigmentation. Our results reveal significant associations between melanoma pigmentation and various cytokine levels, particularly in acral melanoma patients; these associations can be influenced by factors related to acral melanoma, such as physical stress or trauma. These correlations may also provide directions for the treatment of acral melanoma.
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Melanoma , Neoplasias Cutâneas , Humanos , Citocinas , Fator Estimulador de Colônias de Granulócitos e Macrófagos , Interleucina-2 , Melanoma/patologia , Fator de Necrose Tumoral alfa , Interleucina-4 , Interleucina-5 , Neoplasias Cutâneas/patologia , Interferon gama , PigmentaçãoRESUMO
Breslow thickness, ulceration, and mitotic rate are well-known prognostic factors for sentinel lymph node (SLN) metastasis in cutaneous melanoma. We investigated risk factors, including especially the degree of pigmentation, for SLN metastasis in Korean melanoma patients. We enrolled 158, composed of Korean 107 acral and 51 non-acral melanoma patients who underwent SLN biopsy. Clinicopathologic features such as Breslow thickness, ulceration, mitotic rate, and the degree of pigmentation were evaluated. The recurrence-free survival (RFS) rate and date of recurrence were determined. Fifty-four patients (34.2%) had a positive SLN biopsy result. In a multivariate analysis, Breslow thickness (odds ratio [OR] 1.93; 95% confidence interval [CI], 1.12-3.47; p = .022) and heavy pigmentation (OR 13.14; 95% CI, 2.96-95.20, p = .002) were associated with SLN metastasis. Positive SLN patients had a higher rate of loco-regional and/or distant recurrence (hazard ratio 6.32; 95% CI, 3.39-11.79; p < .001). Heavy pigmentation was associated with poor RFS. Heavy pigmentation is an independent predictor of SLN metastasis in both acral and non-acral melanoma. Our results suggest the need for in-depth SLN evaluation of cutaneous melanoma patients with heavy pigmentation and provide clinicians with important information for determining patient prognosis.
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BACKGROUND: Merkel cell carcinoma (MCC) is a rare, aggressive skin cancer, of which most research has been conducted in Caucasians. Therefore, the clinicopathological features and prognosis of Merkel cell carcinoma in Asians are still scarce. The aim of this study is to investigate the epidemiology and survival of MCC in South Korea and provide representative information regarding MCC in Asia. METHODS: This was a retrospective, nationwide, multicenter study conducted in 12 centers across South Korea. Patients with pathologically proven MCC were included in the study. The clinicopathological features and clinical outcomes of the patients were investigated. Overall survival (OS) was analyzed using the Kaplan-Meier method, and independent prognostic factors were identified using Cox regression analysis. RESULTS: A total of 161 patients with MCC were evaluated. The mean age was 71 years with a female predominance. OS was significantly different among the stages. Among clinicopathological features, multivariate Cox regression analysis demonstrated that only the stage at diagnosis was associated with poorer overall survival. CONCLUSIONS: The results of our study suggest that the incidence of MCC was higher in females than in males and that there was a higher rate of local disease at the time of diagnosis. Among the variable clinicopathological features, disease stage at diagnosis was the only significant prognostic factor for MCC in South Korea. The findings of this nationwide, multicenter study suggest that MCC has distinct features in South Korea compared with other countries.
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Carcinoma de Célula de Merkel , Neoplasias Cutâneas , Masculino , Humanos , Feminino , Idoso , Carcinoma de Célula de Merkel/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/patologia , Estadiamento de Neoplasias , Análise de Sobrevida , PrognósticoRESUMO
Transarterial chemoembolization (TACE) is a widely used hepatocellular carcinoma (HCC) treatment. Some cases of supraumbilical skin rash after TACE in patients with HCC have been reported. To the best of the authors' knowledge, there are no reports on atypical, generalized rashes caused by doxorubicin systemic absorption after TACE. This paper presents the case of a 64-year-old male with HCC who developed generalized macules and patches one day after a successful TACE procedure. A histology examination of a skin biopsy of a dark reddish patch on the knee revealed severe interface dermatitis. He was treated with a topical steroid, and all skin rashes improved within a week with no side effects. This report presents this rare case with a literature review on skin rash after TACE.
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Carcinoma Hepatocelular , Quimioembolização Terapêutica , Exantema , Neoplasias Hepáticas , Masculino , Humanos , Pessoa de Meia-Idade , Carcinoma Hepatocelular/patologia , Neoplasias Hepáticas/patologia , Quimioembolização Terapêutica/efeitos adversos , Doxorrubicina/uso terapêutico , Exantema/etiologia , Exantema/terapia , Resultado do Tratamento , Estudos RetrospectivosRESUMO
Objectives@#The importance of public healthcare has been further emphasized by the arrival of the era of super-aged societies. This study investigates the landscape among oral health professionals, focusing on the concept development of the public oral health care (POHC) and essential oral health care (EOHC). @*Methods@#A questionnaire survey of oral health professionals was conducted at six associations or societies who have an interest in POHC from December 21 to December 29, 2022. Chi-squared and logistic regression analyses were adopted to identify significant differences between the responses according to general characteristics. Significant differences were considered at a P-value of 0.05. @*Results@#A total of 100 oral health professionals (48 dentists and 52 dental hygienists) participated in this study. The results revealed that there is a need for improvement of the POHC and the establishment of concepts related to the POHC and EOHC. The agreement rate was 90%, 85%, and 86% for the responsible organization, the target object and field, and the concept in the definition of the POHC, respectively. In the case of the construction of the EOHC, the agreement rate was 91% for “Quality of life,” and 85% for “Life and safety.” Among the community oral health programs as the POHC programs, “Oral health education program” showed the highest agreement rate. In healthcare institutions that are capable of providing the POHC services, “Oral health center in the public health center” had the highest agreement rate. @*Conclusions@#The POHC would be reasonable to define to ensure universal access to oral healthcare services for all citizens. In the case of EOHC, further research is needed to establish terminology and specific concepts in the future. This study could contribute valuable insights to the field of the POHC in an era of super-aged societies. As further research, more oral health professionals need to participate in the POHC-related policy and health care system.
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BACKGROUND: Melatonin receptors are present in the human skin and retina. These receptors can be stimulated by light emitting diodes (LEDs) at specific wavelengths, thereby inducing cutaneous photorejuvenation. However, the underlying mechanism remains unclear. OBJECTIVE: To evaluate the influence of LEDs at specific wavelengths on melatonin membrane receptor (MT1) and cutaneous photorejuvenation via the MT1 pathway in vitro. METHODS: Normal human dermal fibroblasts (HDFs) were irradiated using LEDs at different wavelengths (410~940 nm) at a dose of 1 J/cm². MT1 activity was evaluated after melatonin stimulation and LED irradiation. Thereafter, the expressions of collagen (COL) and matrix metalloproteinases (MMPs), with and without luzindole (MT1/2 receptor antagonist), were investigated via semi-quantitative reverse transcription polymerase chain reaction (PCR), real-time PCR, western blotting, and enzyme-linked immunosorbent assay. RESULTS: In HDFs, the MT1 mRNA and protein levels increased significantly in response to melatonin (dose, 50 nM) (p<0.01) and LED irradiation at 595, 630, 850, and 940 nm (p<0.01). LED irradiation up-regulated COL type I and down-regulated MMP-1. Compared to LED irradiation without luzindole, LED irradiation with luzindole produced no significant increase in COL type I mRNA and protein levels (p<0.01). CONCLUSION: We found that LED irradiation induces collagen synthesis and MMP-1 inhibition in HDFs via MT1 activation. Additionally, multiple LED wavelengths (595, 630, 850, and 940 nm) stimulated MT1 in HDFs, unlike in the eyes, where only blue light induced plasma melatonin suppression. This suggests the possibility of the melatoninergic pathway in photorejuvenation.
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Background: The presence of psychological distress has negatively affected the course and prognosis of melanoma. Psychological distress is influenced by cytokines and gene mutations, particularly in cancer, but no studies have investigated this phenomenon in melanoma patients. This study investigated the correlations of psychological distress, plasma cytokine levels, and gene mutations in melanoma patients, focusing on melanoma sites and TNM stages. Methods: This study prospectively evaluated melanoma patients who visited Chonnam National University Hwasun Hospital from September 2020 to March 2021. Melanoma sites were divided into acral and non-acral sites. Anxiety and depression were evaluated using the Hospital Anxiety and Depression Scale, and quality of life was evaluated with EuroQol-5 Dimensions. Plasma cytokine levels, and depression- and cytokine-related gene mutations were analyzed. Results: This study included 151 melanoma patients. Anxiety was found in 14.6% of the patients, and depression in 29.8%. The melanoma sites were not significantly associated with anxiety, depression, or quality of life. However, psychological distress was significantly associated with the plasma cytokines IL-2, IL-4, IL-5, IL-10, IL-12, TNF-α and IFN-γ. COMT, SLC6A4, SLC6A3, and IL-12b gene mutations were also associated with melanoma sites and TNM stage, anxiety, and QOL. Conclusion: Psychological distress was associated with plasma cytokine levels and depression- and cytokine-related gene mutations. Using psychiatric intervention and emotional support, cytokine levels related to melanoma can be changed, which may have positive effects on the prognosis and treatment of melanoma. More careful follow-up, evaluation, and management are needed for patients with gene mutations.
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Acral melanocytic neoplasms, including acral melanocytic nevus and acral melanoma, are common melanocytic lesions in Asian populations. Both lesions occur on the volar surface of the hands and feet, and on nail units. Acral melanocytic nevi occur on the arch area of the sole, whereas acral melanomas frequently occur on weight-bearing areas of the sole, and on the fingernails. Therefore, the development of acral melanoma may be associated with chronic pressure, physical stress, or trauma. Dermoscopy is a useful adjunctive diagnostic tool for differential diagnosis. Acral melanocytic nevus is characterized by a parallel furrow pattern, whereas acral melanoma has a parallel ridge pattern. Genetic alterations are also different between the two types of lesion. BRAF and NRAS mutations are common in acral melanocytic nevus, whereas acral melanoma shows lower rates of KIT, NF1, BRAF, and NRAS mutations and remarkable copy number variations in genes such as CCND1, CDK4, hTERT, PAK1, and GAB2. Sentinel lymph node biopsy is important for staging and prognosis. Contemporary treatments for melanoma include targeted therapy for mutations and immunotherapy, such as anti-PD1 inhibitors.
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BACKGROUND: Rosacea is a chronic inflammatory skin disease with a pathophysiological mechanism that remains unclear. Recently, dysregulation of the sensory nerve system has been implicated in the development of this condition. OBJECTIVE: This study aimed to investigate the effect of capsaicin on neuroinflammatory mediators in rosacea. In addition, this study aimed to evaluate the attenuating effects of capsazepine, a transient receptor potential vanilloid type 1 (TRPV1) antagonist. METHODS: We obtained skin tissue from both rosacea patients and normal individuals for an in vivo study. In addition, normal human epidermal keratinocytes (NHEKs) were cultured, and treated with capsaicin and capsazepine for an in vitro study. Quantitative changes in neuroinflammatory mediators were evaluated by semi-quantitative reverse transcription-polymerase chain reaction (PCR), real-time PCR, enzyme-linked immunosorbent assay, and immunofluorescence staining. RESULTS: The data showed the increase of TRPV1, TRPV4, cathelicidin (LL37) and tumor necrosis factor-α (TNF-α) in skin tissue by real-time PCR. In addition, the data showed that cathelicidin (LL37), kallikrein-5 (KLK-5), TNF-α, vascular endothelial growth factor (VEGF), interleukin (IL)-1α, IL-1ß, IL-8, and protease-activated receptor 2 (PAR2) increased in capsaicin-treated NHEKs. Capsazepine attenuated the expression of TRPV1 and other mediators, except for IL-8, in capsaicin-treated NHEKs. CONCLUSION: We confirmed that TRPV1, TRPV4, cathelicidin (LL37) and TNF-α are increased in rosacea skin, and that capsaicin is associated with increase of neuroinflammatory mediators such as LL37, KLK-5, TNF-α, VEGF, IL-1α, IL-1ß, IL-8, and PAR2. Modulators or inhibitors of neuroinflammatory mediators including TRPV1 could be potential therapeutic option in the treatment of patients with rosacea.
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[This retracts the article on p. 479 in vol. 29, PMID: 28761298.].
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Background: In South Korea, there have been few nationwide epidemiologic studies about premalignant actinic keratosis (AK), squamous cell carcinoma in situ (Bowen's disease), nonmelanoma skin cancer (NMSC), malignant melanoma of the skin (MM), Kaposi's sarcoma (KS), connective and soft tissue cancers, or mycosis fungoides (MF). Objective: Using a nationwide population-based study, we attempted to measure the incidence and the prevalence of the above-mentioned tumors in South Korea. Methods: The database we used included all claims in the Korean National Health Insurance program and the Korean Medical Aid program from 2008 to 2016. The International Classification of Diseases, 10th revision (ICD-10) was used to record diagnoses in this database. This data included AK, Bowen's disease, NMSC, MM, KS, connective and soft tissue cancers, and MF. Results: The age-standardized incidence and prevalence rate of AK, Bowen's disease, NMSC, MM, KS, connective and soft tissue cancers, as well as MF increased during the periods we investigated. The incidence and prevalence rate of AK and NMSC have increased two- to three-fold. In the case of Bowen's disease, MM, KS, connective and soft tissue cancers, or MF, we observed no significant tendency in age-standardized incidence or prevalence. Conclusion: We confirmed that the age-standardized incidence and prevalence rates of NMSC and AK tended to increase. These results might contribute to developing preventive and therapeutic strategies for skin cancers and may become a source for further studies.
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Objectives@#The purpose of this study was to identify whether stress experienced by those working in the local civil service was related to their oral health during the COVID-19 pandemic. @*Methods@#A survey was conducted on 431 civil servants from eight districts, currently working in the Daegu City Hall had COVID-19 related work duties during the pandemic. @*Results@#Several factors associated with oral health related quality of life were explored. Demographic details revealed that men had significantly better oral health related life quality as compared to women; further, being younger, being unmarried, and having a lower position had better outcomes for oral health related quality of life. Regarding the relationship between oral health behavior and oral health related quality of life, it was found that the better the subjective oral health, the higher the rate of not visiting the dentist in the past year. The COVID-19 pandemic has been a particularly important time to explore in order to understand how the stress experienced by local government officials is related to their oral health. It has been especially noted that the higher the work stress, the worse the oral health related quality of life amongst individuals. @*Conclusions@#Results of this study emphasize that at a time when fatigue among civil servants is increasing due to the prolonged COVID-19 pandemic, oral conditions caused by stress should be identified and greater awareness should be created about oral health care.
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RATIONALE: Syphilis is a contagious infectious disease caused by Treponema pallidum. Gastric involvement of syphilis is rare and has nonspecific gastrointestinal symptoms and endoscopic findings. To date, 16 cases have been reported in Korea. Here, we report 2 additional cases of gastric syphilis in men in their 30âsecond. PATIENTS CONCERNS: Two 35- and 33-year-old men presented with epigastric pain. DIAGNOSIS: The serum venereal disease research laboratory and fluorescent treponemal antibody absorption tests were positive. Esophagogastroduodenoscopy showed multiple variable-sized flat elevated lesions and geographic ulcers with whitish exudates in the antrum and body. Warthin-Starry silver staining of endoscopic biopsy specimens confirmed gastric syphilis. INTERVENTIONS: The patients were treated with an intramuscular injection of 2.4 million units of benzathine penicillin once a week for 3âweeks. OUTCOMES: Clinical symptoms and gastric lesions were completely resolved. LESSONS: First, gastric syphilis, despite its rarity and nonspecific symptoms and endoscopic findings, should be considered in a rare extracutaneous presentation of syphilis. Second, a high index of clinical suspicion and an accurate diagnosis based on a combination of clinical, radiological, endoscopic, serologic, and histopathologic findings provide an opportunity to identify and treat patients with gastric syphilis.
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Penicilina G Benzatina/administração & dosagem , Sífilis/tratamento farmacológico , Adulto , Biópsia , Endoscopia do Sistema Digestório , Humanos , Injeções Intramusculares , Masculino , Dor/etiologia , Prognóstico , Sífilis/diagnóstico , Sífilis/patologia , Sorodiagnóstico da Sífilis , Treponema pallidumRESUMO
Atypical Spitzoid melanocytic tumors are diagnostically challenging. Many studies have suggested various genomic markers to improve classification and prognostication. We aimed to assess whether next-generation sequencing studies using the Tempus xO assay assessing mutations in 1711 cancer-related genes and performing whole transcriptome mRNA sequencing for structural alterations could improve diagnostic agreement and accuracy in assessing neoplasms with Spitzoid histologic features. Twenty expert pathologists were asked to review 70 consultation level cases with Spitzoid features, once with limited clinical information and again with additional genomic information. There was an improvement in overall agreement with additional genomic information. Most significantly, there was increase in agreement of the diagnosis of conventional melanoma from moderate (κ=0.470, SE=0.0105) to substantial (κ=0.645, SE=0.0143) as measured by an average Cohen κ. Clinical follow-up was available in all 70 cases which substantiated that the improved agreement was clinically significant. Among 3 patients with distant metastatic disease, there was a highly significant increase in diagnostic recognition of the cases as conventional melanoma with genomics (P<0.005). In one case, none of 20 pathologists recognized a tumor with BRAF and TERT promoter mutations associated with fatal outcome as a conventional melanoma when only limited clinical information was provided, whereas 60% of pathologists correctly diagnosed this case when genomic information was also available. There was also a significant improvement in agreement of which lesions should be classified in the Spitz category/WHO Pathway from an average Cohen κ of 0.360 (SE=0.00921) to 0.607 (SE=0.0232) with genomics.
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Biomarcadores Tumorais/genética , Análise Mutacional de DNA , Sequenciamento de Nucleotídeos em Larga Escala , Mutação , Nevo de Células Epitelioides e Fusiformes/genética , Neoplasias Cutâneas/genética , Adulto , Biópsia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nevo de Células Epitelioides e Fusiformes/mortalidade , Nevo de Células Epitelioides e Fusiformes/patologia , Nevo de Células Epitelioides e Fusiformes/terapia , Variações Dependentes do Observador , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapiaRESUMO
RATIONALE: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an uncommon and aggressive hematologic malignancy that arises from plasmacytoid dendritic cells. BPDCN typically presents with skin lesions with or without involvement of lymph nodes, peripheral blood, or bone marrow. However, breast involvement of BPDCN is rare and there has been no report describing the radiologic features of BPDCN within breast parenchyma. PATIENT CONCERNS: We report a case of a 47-year-old woman who presented with an incidentally detected hypermetabolic breast lesion on PET/CT with concurrent right cheek plaque. DIAGNOSES: Skin biopsy was performed for the right cheek plaque. Mammography and breast ultrasonography were performed to evaluate the breast lesion. The lesion was depicted as a 2.5 cm sized focal asymmetry on mammogram and an irregular heterogeneous echoic mass within the mammary zone of the right upper outer breast. Core needle biopsy was performed for the breast lesion. Histologic diagnosis of the two lesions was BPDCN. INTERVENTIONS: The patient was treated with induction and consolidation chemotherapy and received allogenic peripheral blood stem cell transplantation. OUTCOMES: The patient remains in complete remission state without relapse at 34âmonths since initial diagnosis. LESSONS: This is the first case of BPDCN manifested as a breast parenchymal mass and assessed by diagnostic breast imaging tools (mammography and ultrasonography). This case report is significant for BPDCN within the breast parenchyma and presenting rare radiologic description of BPDCN.