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Primary central nervous system (CNS) melanoma is an extremely rare condition, with an incidence rate of 0.01 per 100,000 individuals per year. Despite its rarity, the etiology and pathogenesis of this disease are not yet fully understood. Primary CNS melanoma exhibits highly aggressive biological behavior and presents clinically in a distinct manner from other types of melanomas. It can develop at any age, predominantly affecting the meninges as the primary site, with clinical symptoms varying depending on the neoplasm's location. Due to the lack of specificity in its presentation and the challenging nature of imaging diagnosis, distinguishing primary CNS melanoma from other CNS diseases. The combination of challenges in early detection, heightened tumor aggressiveness, and the obscured location of its origin contribute to an unfavorable prognostic outcome. Furthermore, there has been currently no consensus on a standardized treatment approach for primary CNS melanoma. Despite recent advancements in targeted therapy and immunotherapy for CNS melanoma, patients with primary CNS melanoma have limited treatment options due to their inadequate response to these therapies. Here, we provided a comprehensive summary of the epidemiology, clinical features, molecular pathological manifestations, and available diagnostic and therapeutic approaches of primary CNS melanoma. Additionally, we proposed potential therapeutic strategies for it. [ABSTRACT FROM AUTHOR]

Primary urethral melanoma is extremely rare and malignant, and accounts for <1% of all melanoma cases. Here, we aimed to gain more insight into the pathological and follow-up outcomes of patients with this tumor type. We conducted a retrospective analysis of nine patients who had undergone comprehensive treatment at West China Hospital since 2009. Furthermore, we also performed a questionnaire-based survey to determine the quality of life and health statuses of surviving patients. Most participants were women, and their ages ranged between 57 and 78 years (mean age: 64.9 years). Common clinical presentations included pigmentation, moles, and irregular neoplasms in the urethral meatus with or without bleeding. The final diagnosis was based on pathological and immunohistochemical examination results. All patients underwent regular follow-ups after receiving surgical or non-surgical therapy, such as chemotherapy or radiotherapy. Our study revealed that pathological and immunohistochemical tests are crucial for precise diagnosis, especially in asymptomatic patients. Primary malignant urethral melanoma generally has a poor prognosis; therefore, early and accurate diagnosis is imperative. Timely surgical intervention and immunotherapy can help improve patient prognosis. Moreover, an optimistic outlook and family support may augment the clinical management of this disease. [ABSTRACT FROM AUTHOR]

Primary malignant melanoma, though rare, is believed to be the most common non-epithelial neoplasm of the oesophagus. Compared to epithelial esophageal malignancies, melanoma is more aggressive and metastatic, resulting in poor therapeutic response and prognosis. Immunohistochemical staining is often diagnostic; conventional staining classically reveals epithelioid cells with pigment deposits. We report a case of primary esophageal melanoma in an elderly male who presented with dysphagia, treated palliatively with esophageal stenting.

Primary brain melanomas are exceedingly rare, and metastasis outside of the central nervous system is an uncommon occurrence. The patients initially presented with an intraparenchymal hematoma with associated symptoms. Extensive diagnostic tests did not reveal any tumor-related or vascular patterns contributing to these bleedings. A comprehensive surgical resection was conducted, and the diagnosis of Central Nervous System (CNS) melanoma was confirmed through histological examination. Despite the generally poor prognosis associated with malignant melanomas, the combination of complete surgical resection and emerging therapies is extending overall survival and enhancing the quality of life. In cases where primary brain melanoma is suspected, even in the presence of extracerebral metastasis, aggressive treatment may be a viable consideration. [ABSTRACT FROM AUTHOR]

Abstract Background Cutaneous melanomas account for more than 95% of all cases of primary melanoma, making non-cutaneous primary melanomas truly rare. Cases of primary mucosal melanomas of the oral cavity have been widely described; however, instances of primary melanomas arising from salivary glands have been rarely described. To date, this is only the second case of primary melanoma of the submandibular gland. Case presentation This is a report of a case of a 36-year-old healthy male patient, who was referred to us with the chief complaint of a growing swelling on the left side of his lower jaw. Evaluations revealed an evident facial asymmetry in the frontal view with a firm, non-tender swelling. Initial orthopantomogram did not reveal any alterations in the trabeculation or morphology of the jaws and the surrounding structures. A soft tissue ultrasonography of the left submandibular gland and anterior region of mandible revealed a hypoechoic cystic mass with numerous micro-echoes. Further para-clinical examinations yielded the definitive diagnosis of primary melanoma of the submandibular gland. Moreover, no evidence of distant osteometastasis was observed in whole-body scans. Subsequent surgical management with the approach of excising the submandibular salivary gland and concurrent selective neck dissection was implemented. Conclusions This report emphasizes the importance of thorough examination and prompt referral to designated specialists in cases with suspicious behaviors which are unresponsive to treatments. It can be further concluded that melanoma can mimic a range of benign pathologies; therefore, putting it in the list differential diagnosis of similar lesions seems plausible.

It is unclear why some melanomas aggressively metastasize while others remain indolent. Available studies employing multi‐omic profiling of melanomas are based on large primary or metastatic tumors. We examine the genomic landscape of early‐stage melanomas diagnosed prior to the modern era of immunological treatments. Untreated cases with Stage II/III cutaneous melanoma were identified from institutions throughout the United States, Australia and Spain. FFPE tumor sections were profiled for mutation, methylation and microRNAs. Preliminary results from mutation profiling and clinical pathologic correlates show the distribution of four driver mutation sub‐types: 31% BRAF; 18% NRAS; 21% NF1; 26% Triple Wild Type. BRAF mutant tumors had younger age at diagnosis, more associated nevi, more tumor infiltrating lymphocytes, and fewer thick tumors although at generally more advanced stage. NF1 mutant tumors were frequent on the head/neck in older patients with severe solar elastosis, thicker tumors but in earlier stages. Triple Wild Type tumors were predominantly male, frequently on the leg, with more perineural invasion. Mutations in TERT, TP53, CDKN2A and ARID2 were observed often, with TP53 mutations occurring particularly frequently in the NF1 sub‐type. The InterMEL study will provide the most extensive multi‐omic profiling of early‐stage melanoma to date. Initial results demonstrate a nuanced understanding of the mutational and clinicopathological landscape of these early‐stage tumors. [ABSTRACT FROM AUTHOR]

Xiuyun Xuan,1 Yuqi Wang,2 Yanhong Sun,3 Changzheng Huang1 1Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022, People’s Republic of China; 2Department of Radiology, Municipal Hospital Affiliated to Xuzhou Medical University, Xuzhou, Jiangsu, 221002, People’s Republic of China; 3Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009, People’s Republic of ChinaCorrespondence: Yanhong Sun; Changzheng Huang Tel/Fax +86 0571-87783777; Tel/Fax +86 027-85726359Email sunyh1128@zju.edu.cn; hcz0501@126.comBackground: Melanoma is one of the most malignant and aggressive skin tumors, and its incidence is increasing worldwide. However, few studies have investigated the process of tumorigenesis from normal skin to melanoma.Methods: Several bioinformatics analyses, including GEO databases, Oncomine database, TCGA database, STRING, MCODE and cytoHubba plug-ins, GEPIA, TIMER and TRRUST and DGIdb, were performed to disclose the hub genes and immunology implicated in primary melanoma tumorigenesis. Finally, immunohistochemistry (IHC) and quantitative real-time PCR (qPCR) were used to validate the results of bioinformatics analysis in vitro.Results: A total of 295 overlapping DEGs (ODEGs) (157 upregulated and 138 downregulated) and 9 hub genes were identified between primary melanoma and normal skin tissues. Functional analysis of these 9 hub genes indicated that the genes were primarily enriched in cell chemotaxis, the chemokine-mediated signaling pathway, the extracellular region, the extracellular space, chemokine activity and CXCR3 chemokine receptor binding. KEGG pathway enrichment showed that these genes were primarily involved in the chemokine signaling pathway, cytokine–cytokine receptor interaction, the toll-like receptor signaling pathway, the cytosolic DNA-sensing pathway and the TNF signaling pathway. Upregulated CCL5, CCL4, CXCL9 and CXCL10 demonstrated good overall survival (OS), and most of them have a higher expression in stage 0 and 1 of melanoma. Moreover, immune infiltration analysis showed that the above hub genes showed a strong positive correlation between their expression and infiltration of the six immune cell subsets. Transcription factor regulation network suggested that RELA and NFKB1 are the transcription factors of CCL4, CCL5, CXCL10 and CXCL2, while IRF7, IRF3 and IRF1 are the transcription factors of CCL5 and CXCL10. Drug–gene interaction analysis identified 46 drug–gene interactions. In vitro data demonstrated that the level of CCL4, CCL5, CXCL9 and CXCL10 is higher in melanoma than that in normal skin tissues, either at tissue or cell lines level.Conclusion: In summary, we identified 4 key chemokine members related to tumorigenesis and progression in primary melanoma, and these results may help to elucidate melanoma tumorigenesis and facilitate its treatment.Keywords: bioinformatic analysis, primary melanoma, normal skin, prognosis, tumorigenesis

Melanomas of vertebral body are usually metastatic lesions. Isolated vertebral body melanomas are rare may be due to unknown primary. Only threesuch cases havebeen reported in literature. We are reporting a 30-year-old female presented with progressive quadriparesis and bladder involvement. On evaluation, an extradural lesion at the C4-5 level with the destruction of C4 vertebral body and anterior in the prevertebral space seen with areas of blooming. The patient underwent surgery and biopsy was suggestive of melanoma. On further evaluation, we could find any other lesion in the body. The lesion can be either metastatic with unknown primary or primarily arising from vertebrae. Primary vertebral body melanomas are rare, surgical decompressions followed by immunotherapy may prolong the survival in this patients. [ABSTRACT FROM AUTHOR]

Background: Cutaneous melanomas account for more than 95% of all cases of primary melanoma, making non-cutaneous primary melanomas truly rare. Cases of primary mucosal melanomas of the oral cavity have been widely described; however, instances of primary melanomas arising from salivary glands have been rarely described. To date, this is only the second case of primary melanoma of the submandibular gland. Case presentation: This is a report of a case of a 36-year-old healthy male patient, who was referred to us with the chief complaint of a growing swelling on the left side of his lower jaw. Evaluations revealed an evident facial asymmetry in the frontal view with a firm, non-tender swelling. Initial orthopantomogram did not reveal any alterations in the trabeculation or morphology of the jaws and the surrounding structures. A soft tissue ultrasonography of the left submandibular gland and anterior region of mandible revealed a hypoechoic cystic mass with numerous micro-echoes. Further para-clinical examinations yielded the definitive diagnosis of primary melanoma of the submandibular gland. Moreover, no evidence of distant osteometastasis was observed in whole-body scans. Subsequent surgical management with the approach of excising the submandibular salivary gland and concurrent selective neck dissection was implemented. Conclusions: This report emphasizes the importance of thorough examination and prompt referral to designated specialists in cases with suspicious behaviors which are unresponsive to treatments. It can be further concluded that melanoma can mimic a range of benign pathologies; therefore, putting it in the list differential diagnosis of similar lesions seems plausible. [ABSTRACT FROM AUTHOR]

While the tumor immune microenvironment (TIME) of metastatic melanoma has been well characterized, the primary melanoma TIME is comparatively poorly understood. Additionally, although the association of tumor-infiltrating lymphocytes with primary melanoma patient outcome has been known for decades, it is not considered in the current AJCC melanoma staging system. Detailed immune phenotyping of advanced melanoma has revealed multiple immune biomarkers, including the presence of CD8+ T-cells, for predicting response to immunotherapies. However, in primary melanomas, immune biomarkers are lacking and CD8+ T-cells have yet to be extensively characterized. As recent studies combining immune features and clinicopathologic characteristics have created more accurate predictive models, this study sought to characterize the TIME of primary melanomas and identify predictors of patient outcome. We first phenotyped CD8+ T cells in fresh stage II primary melanomas using flow cytometry (n = 6), identifying a CD39+ tumor-resident CD8+ T-cell subset enriched for PD-1 expression. We then performed Opal multiplex immunohistochemistry and quantitative pathology-based immune profiling of CD8+ T-cell subsets, along with B cells, NK cells, Langerhans cells and Class I MHC expression in stage II primary melanoma specimens from patients with long-term follow-up (n = 66), comparing patients based on their recurrence status at 5 years after primary diagnosis. A CD39+CD103+PD-1-CD8+ T-cell population (P2) comprised a significantly higher proportion of intratumoral and stromal CD8+ T-cells in patients with recurrence-free survival (RFS) >5 years vs those with RFS <5 years (p = 0.013). Similarly, intratumoral B cells (p = 0.044) and a significantly higher B cell density at the tumor/stromal interface were associated with RFS. Both P2 and B cells localized in significantly closer proximity to melanoma cells in patients who remained recurrence-free (P2 p = 0.0139, B cell p = 0.0049). Our results highlight how characterizing the TIME in primary melanomas may provide new insights into how the complex interplay of the immune system and tumor can modify the disease outcomes. Furthermore, in the context of current clinical trials of adjuvant anti-PD-1 therapies in high-risk stage II primary melanoma, assessment of B cells and P2 could identify patients at risk of recurrence and aid in long-term treatment decisions at the point of primary melanoma diagnosis. [ABSTRACT FROM AUTHOR]

While the tumor immune microenvironment (TIME) of metastatic melanoma has been well characterized, the primary melanoma TIME is comparatively poorly understood. Additionally, although the association of tumor-infiltrating lymphocytes with primary melanoma patient outcome has been known for decades, it is not considered in the current AJCC melanoma staging system. Detailed immune phenotyping of advanced melanoma has revealed multiple immune biomarkers, including the presence of CD8+ T-cells, for predicting response to immunotherapies. However, in primary melanomas, immune biomarkers are lacking and CD8+ T-cells have yet to be extensively characterized. As recent studies combining immune features and clinicopathologic characteristics have created more accurate predictive models, this study sought to characterize the TIME of primary melanomas and identify predictors of patient outcome. We first phenotyped CD8+ T cells in fresh stage II primary melanomas using flow cytometry (n = 6), identifying a CD39+ tumor-resident CD8+ T-cell subset enriched for PD-1 expression. We then performed Opal multiplex immunohistochemistry and quantitative pathology-based immune profiling of CD8+ T-cell subsets, along with B cells, NK cells, Langerhans cells and Class I MHC expression in stage II primary melanoma specimens from patients with long-term follow-up (n = 66), comparing patients based on their recurrence status at 5 years after primary diagnosis. A CD39+CD103+PD-1- CD8+ T-cell population (P2) comprised a significantly higher proportion of intratumoral and stromal CD8+ T-cells in patients with recurrence-free survival (RFS) ≥5 years vs those with RFS

An improved understanding of the impact of skin cancer on patients’ daily life may optimize disease management. This questionnaire survey of adult patients in real-world settings aimed to assess patient perception of the diagnosis announcement, and the impact of the diagnosis on the patients’ professional and personal life. Data from 355 patients with melanoma and 320 patients with basal cell carcinoma (BCC) were analysed. Melanoma significantly impacted the couple, and sexual relationships, as well as family and social life, and reduced the patient’s libido more significantly than did BCC (all p

Background: Primary melanocytic tumors of the central nervous system accounts for approximately 1% of all melanoma with a peak incidence in the fourth decade. The tumor originates from leptomeningeal melanocytes with a variable degree of belligerence. The proliferation of these melanocytes in large amounts in the dermis and nervous system can raise suspicion of neurocutaneous melanosis (NCM), which is an association between malignant melanoma and the presence of a giant intradermal nevus. Case Description: We present a case of a 62-year-old South Asian male with a large congenital melanocytic nevus (>20 cm in size) in the left hemifacial, and head region who presented with complaints of a single episode of grand-mal seizure followed by neuropsychiatric symptoms. The patient was thoroughly evaluated both clinically and surgically leading to a rare diagnosis of primary leptomeningeal melanoma of the left temporal lobe. The patient subsequently underwent a neuronavigation guided left temporal craniotomy with gross total resection of the lesion. Conclusion: Primary leptomeningeal melanoma with a clinical association with NCM is rarely ever reported within the literature. To date, our case is one of the very few instances where such an association is being reported in this age group along with rare neuropsychiatric symptoms. [ABSTRACT FROM AUTHOR]

Introduction: The characteristics and the prognostic value of regression in primary melanomas are controversial. Objectives: To further characterize “hot” and “cold” tumor’s stromas and to investigate the association between dermoscopy, pathology, and the prognostic implications of regression. Methods: A 14-year-collection-based retrospective analysis was carried out on 40 patients with confirmed regressive melanomas. Results: The extent of regression in dermoscopy was associated with the stage of the regression (P = 0.05) and with the MelanA patterns in histology (P = 0.02). Blue-gray and gray-brown color of the peppering (P = 0.01), and the eccentric, multifocal character of the dermoscopic regression (P = 0.05) were associated with “hot” stromas (CD8+, Granzym B+). Focal histologic regression (regressing melanomas) was associated with a good outcome (P < 0.001), while a complete regression (regressed melanomas) was associated with melanoma-related death (P < 0.001). “Hot” stromas (CD8+ were significantly associated with survival at 10 years (P = 0.044), while “hot” stromas (Granzyme B+) were associated with the locoregional extension (P = 0.016), and the initial distant metastasis (P = 0.016). Conclusions: Dermoscopic features of regression in primary melanomas were associated with the stage of regression, its extent, and the “hot” or “cold” nature of the tumor stroma, with prognostic implications.

Primary malignant melanoma of the ovary arising in a cystic teratoma is extremely rare. There is no melanocytic component in the normal ovarian tissue. However, melanocytes may be present in a cystic teratoma of the ovary, especially at the basal layer of squamous epithelium. We report a case of primary malignant melanoma of the ovary arising in a cystic teratoma. We demonstrate junctional activity of melanocytes showing malignant transformation with both radial and vertical growth phases, a feature diagnostic for primary malignant melanoma but not always demonstrated in such cases. We compiled and reviewed twelve cases that are also able to demonstrate junctional activity.

Skin cutaneous melanoma (SKCM) is a multifactorial disease that presents a poor prognosis due to its rapid progression towards metastasis. This study focused on the identification of prognostic differentially expressed genes (DEGs) between primary and metastatic SKCM. DEGs were obtained using three chip data sets from the Gene Expression Omnibus database. The protein‐protein interaction network was described by STRING and Cytoscape. Kaplan‐Meier curves were implemented to evaluate survival benefits within distinct groups. A total of 258 DEGs were distinguished as possible candidate biomarkers. Besides, survival curves indicated that DSG3, DSC3, PKP1, EVPL, IVL, FLG, SPRR1A and SPRR1B were of significant value to predict the metastatic transformation of melanoma. To further validate our hypotheses, functional enrichment and significant pathways of the hub genes were performed to indicate that the most involved considerable path. In summary, this study identified substantial DEGs participating in melanoma metastasis. DGS3, DSC3, PKP1, EVPL, IVL, FLG, SPRR1A and SPRR1B may be considered as new biomarkers in the therapeutics of metastatic melanoma, which might help us predict the potential metastatic capability of SKCM patients, thus provide earlier precautionary treatments. However, further experiments are still required to support the specific mechanisms of these hub genes. [ABSTRACT FROM AUTHOR]

MicroRNAs (miRNAs) have been proven to regulate the development and progression of cancer through various mechanisms. The aim of the present study was to compare miRNA expression between primary melanomas from different sites. We analyzed the expression of 84 miRNAs in 27 primary melanoma and 5 nevus formalin-fixed paraffin-embedded (FFPE) samples using the Human Cancer PathwayFinder miScript miRNA PCR Array. The FFPE samples were obtained from the archives of the Municipal Clinical Emergency Hospital of Timisoara and included 10 cutaneous melanomas, 10 uveal melanomas, 7 mucosal melanomas, and 5 cutaneous nevi. Out of 84 miRNAs, 11 miRNAs showed altered expression in all types of melanoma compared with the nevi. Among these, miR-155-5p, miR-9-5p, miR-142-5p, miR-19a-3p, miR-134-5p, and miR-301a-3p were upregulated, while miR-205-5p, miR-203a-3p, miR-27b-3p, miR-218-5p, and miR-23b-3p were downregulated. The highest similarity in miRNA expression pattern was found between uveal and mucosal melanoma groups, i.e., 15 miRNAs had altered expression in both groups. Overall, we identified several miRNAs with significantly altered expression in primary melanomas, including those reported for the first time in this type of cancer. Among them, mir-9-5p, mir-203a-3p, mir-19a-3p, mir-27b-3p, and mir-218-5p showed altered expression in all three melanoma types vs. nevi. Further research should explore the potential of these miRNAs in melanoma.

Melanoma is a highly aggressive cancer, attracting increasing attention worldwide. The 5-year survival rate of patients with metastatic melanoma is low. Therefore, it is critical to identify potential effective biomarkers for diagnosis of melanoma metastasis. In the present study, the melanoma cohort and immune genes were obtained from the Cancer Genome Atlas (TCGA) database and the ImmPort database, respectively. Then, we constructed the immune risk score (IRS) using univariate and multivariate logistic analysis. The area under the curve (AUC) of IRS in sequencing samples and the initial diagnosis patients was 0.90 and 0.80, respectively. Besides, IRS could add benefits for metastasis diagnosis. For sequencing samples, IRS (OR = 16.35, 95% CI = 8.74–30.59) increased the odds for melanoma metastasis. Similar results were obtained in the initial diagnosis patients (OR = 8.93, 95% CI = 3.53–22.61). A composite nomogram was built based on IRS and clinical information with well-fitted calibration curves. We further used other independent melanoma cohorts from Gene Expression Omnibus (GEO) databases to confirm the reliability and validity of the IRS (AUC > 0.75, OR > 1.04, and P value < 0.01 in all cohorts). In conclusion, IRS is significantly associated with melanoma metastasis and can be a novel effective signature for predicting the metastasis risk.

Primary spinal melanoma is too rare to have any systemic statistical data on the epidemiology of this disease. We report a 58-year-old woman presented with spastic gait for 10 days, preceded by chronic pain at her left anterior chest that progressively spread to her neck, left shoulder, and arm in half a year. Cervical magnetic resonance imaging (MRI) displayed a well-enhancing focal intraspinal extramedullary tumor at C6/7 level. After surgical resection of the tumor and thorough studies to exclude extraspinal melanoma, the primary spinal melanoma is diagnosed. Postoperative MRI did not disclose any evidence of recurrence at 4 and 21 months later. We present the clinical, radiological, and pathological features of a patient with a primary cervical extramedullary spinal melanoma.

Melanoma in advanced stages is one of the most aggressive tumors and the deadliest of skin cancers. To date, the histopathological staging focuses on tumor thickness, and clinical staging is a major estimate of the clinical behavior of primary melanoma. Here we report on an observational study with in-depth molecular profiling at the protein level including post-translational modifications (PTMs) on eleven primary tumors from melanoma patients. Global proteomics, phosphoproteomics, and acetylomics were performed on each sample. We observed an up-regulation of key mitochondrial functions, including the mitochondrial translation machinery and the down-regulation of structural proteins involved in cell adhesion, the cytoskeleton organization, and epidermis development, which dictates the progression of the disease. Additionally, the PTM level pathways related to RNA processing and transport, as well as chromatin organization, were dysregulated in relation to the progression of melanoma. Most of the pathways dysregulated in this cohort were enriched in genes differentially expressed at the transcript level when similar groups are compared or metastasis to primary melanomas. At the genome level, we found significant differences in the mutation profiles between metastatic and primary melanomas. Our findings also highlighted sex-related differences in the molecular profiles. Remarkably, primary melanomas in women showed higher levels of antigen processing and presentation, and activation of the immune system response. Our results provide novel insights, relevant for developing personalized precision treatments for melanoma patients.

This study was aimed to identify novel miRNA biomarkers and explore the cooperative function of multi-RNAs in the progress of primary melanoma. The miRNA expression profile GSE62370 generated from 9 congenital nevi and 92 primary melanoma samples was downloaded from the Gene Expression Omnibus database. Differentially expressed miRNAs between primary melanoma and congenital nevi were compared and the target genes of them were selected. Pathway enrichment analysis and protein/protein interaction (PPI) network of miRNA target genes were performed. In addition, the differential expression of miRNAs to identify the tumor stage-dependent differences in miRNA expression was analyzed. Differentially expressed miRNAs, including 6 upregulated and 23 downregulated, were found in primary melanoma. Besides, the miRNA-associated gene regulatory network revealed 274 nodes, including miR-142-5p and miR-125b, and 307 miRNA-target pairs. miRNA-related Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway, such as melanoma, was found. Target genes in the PPI module were mainly enriched in cancer-related pathways. Finally, the melanoma stage-related overexpressed miR-142-5p and the downregulated miR-550, miR-1826, miR-1201, miR-205, and miR-125b were identified. Some validated miRNAs, including miR-125a/b, let-7a/b, and miR-205, were found and illustrated the reliability of our study. Four novel miRNAs, including miR-142-5p, miR-550a, miR-1826, and miR-1201, were considered to have potential prognostic values for primary melanoma. [ABSTRACT FROM AUTHOR]

Introduction: It is unusual to have uveal and cutaneous melanoma in the same patient. It is challenging to differentiate between primary uveal melanoma (UM) and melanoma metastatic to the uvea. Objective: The aim of this study is to evaluate the characteristics of patients who presented with concurrent melanomas (primary or metastatic) of the skin and uveal tract. Materials and Methods: Eleven patients with both uveal and cutaneous melanomas were obtained from the McGill University Ocular Pathology Laboratory database. The characteristics included cell type, number of mitotic figures, presence of necrosis, the time interval between primary and secondary melanoma and the presence of metastasis in other organs. Results: Five patients presented with both primary uveal and primary cutaneous melanoma, three patients with UM metastatic to the skin, and three patients with cutaneous melanoma metastatic to the uvea. In all of our cases, there was a time difference between the appearance of cutaneous and UM in the same patient. Conclusion: Patients with two primary melanomas presented with spindle-cell type (uveal tumor), a Breslow index <1 mm, >7 years between tumors. Systemic disease was negative. Patients with metastasis from cutaneous melanoma to the eye and from ocular to the skin showed epithelioid cell type, a Breslow index >1.5 mm, <5 years between tumors and positive systemic disease. [ABSTRACT FROM AUTHOR]

Central nervous system (CNS) malignant melanomas are rare tumors of the CNS that are thought to arise from aberrant changes in melanocytes of the neural crest or melanocytic elements of the pia mater during early embryonic development. As a rare type of CNS malignant melanoma, only a few cases of primary malignant melanoma in the spinal canal have been reported thus far. The majority of these studies have reported on the diagnosis, radiographic features and gross total resection of primary spinal canal malignant melanoma; however, the prognosis and ideal treatment of patients with residual tumors remain elusive. The current study presented the rare case of a patient with primary malignant melanoma originating from the thoracic spinal canal, without any history of irradiation exposure and with an incompletely resected tumor. Disease-free survival of >2.5 years was observed in this patient who was treated with concurrent chemoradiotherapy followed by adjuvant chemotherapy with temozolomide and bevacizumab. [ABSTRACT FROM AUTHOR]

Intra-cranial melanomas are commonly metastatic, from primary melanoma elsewhere in the body. The primary occurrence of a melanoma in the brain parenchyma is rare. We report a case of 26-year aged woman who presented with headache, hearing loss, mild cerebellar signs. On imaging, a space occupying lesion was found in the right cerebellopontine angle and a preoperative diagnosis of schwannoma/ meningioma was made. She underwent right retro-mastoid sub-occipital craniectomy and excision of a blackish vascular tumour. Histopathological examination revealed a melanocytoma intermediate grade, mib Index 4-5%. Search for dermal, mucous and ocular lesions were negative. She received image guidance adjuvant radiation to the post- operative tumour bed to 50.4 Gy/28 fractions @ 180 cGy tumor. She tolerated the treatment well and is symptom free 12 months after treatment. We report a rare case of primary melanocytic tumour of the cerebellopontine angle.

Primary central nervous system (pCNS) melanoma is an extremely rare malignant tumor. We explored the incidence, outcomes, and predictors of pCNS melanoma. We queried the Surveillance, Epidemiology, and End Results database to identify all patients diagnosed with pCNS melanoma during 1973–2015. Overall survival (OS) was obtained by using the Kaplan-Meier curves. Log-rank test was used to compare survival across groups of age, sex, race, tumor location, size, surgical resection, radiotherapy, chemotherapy and year of diagnosis. Cox regression was used for univariate and multivariate analysis of survival. A total of 84 pCNS melanomas were identified with a 5-year OS of 37.7%. The overall age-adjusted incidence rate was 0.52 per 10,000,000 person-years. Age ≤19 years (vs. age 20–59 years, hazard ratio [HR] = 2.37, 95% confidence interval [CI]: 1.11–5.07, P = 0.03) and intracranial location (vs. intraspinal, HR = 1.98, 95% CI: 1.04–3.77, P = 0.04) were associated with decreased survival rate. Gross total resection surgery (vs. partial resection, HR = 0.31, 95% CI: 0.15–0.66, P = 0.002) was associated with improved survival rate. There was no significant association between other demographic characteristics, tumor size, therapy methods, year of diagnosis, and OS. The overall age-adjusted incidence rate of pCNS melanoma is 0.52 per 10,000,000 person-years. Age ≤19 years and intracranial tumor location are independent risk factors of low survival rate, whereas gross total resection is associated with better survival rate. [ABSTRACT FROM AUTHOR]

Treatment of malignant melanoma, the most aggressive form of skin cancer, continues to be a major challenge for clinicians. New targeted therapies with kinase inhibitors or drugs which modify the immune response are often accompanied by the development of resistance or severe side effects. In this context, chondroitin sulfate proteoglycan 4 (CSPG4), a highly immunogenic melanoma tumor antigen, could be a potential target for alternative therapeutic approaches. The aim of the present study was to identify differences in the levels of CSPG4 protein expression in primary and metastatic melanomas as well as to analyze correlations between CSPG4 expression and histopathological data and patient characteristics. A total of 189 melanoma tissue samples from Lower Austria, including primary melanomas and melanoma metastases, were immunohistochemically stained for the expression of CSPG4 and statistical analyses were performed. A total of 65.6% of melanoma tissue samples stained positive for the expression of CSPG4. Primary nodular and primary superficial spreading melanomas demonstrated a significantly higher number of positively stained tissue samples for CSPG4 compared with primary lentigo maligna melanomas. No significant differences in the expression of CSPG4 were demonstrated between primary melanomas and melanoma metastases. The present study supports the advancement of the understanding of CSPG4 tissue expression patterns in melanoma patients and provides additional information for further investigation of CSPG4 as a potential therapeutic target. [ABSTRACT FROM AUTHOR]

Introduction: It is unusual to have uveal and cutaneous melanoma in the same patient. It is challenging to differentiate between primary uveal melanoma (UM) and melanoma metastatic to the uvea. Objective: The aim of this study is to evaluate the characteristics of patients who presented with concurrent melanomas (primary or metastatic) of the skin and uveal tract. Materials and Methods: Eleven patients with both uveal and cutaneous melanomas were obtained from the McGill University Ocular Pathology Laboratory database. The characteristics included cell type, number of mitotic figures, presence of necrosis, the time interval between primary and secondary melanoma and the presence of metastasis in other organs. Results: Five patients presented with both primary uveal and primary cutaneous melanoma, three patients with UM metastatic to the skin, and three patients with cutaneous melanoma metastatic to the uvea. In all of our cases, there was a time difference between the appearance of cutaneous and UM in the same patient. Conclusion: Patients with two primary melanomas presented with spindle-cell type (uveal tumor), a Breslow index 7 years between tumors. Systemic disease was negative. Patients with metastasis from cutaneous melanoma to the eye and from ocular to the skin showed epithelioid cell type, a Breslow index >1.5 mm,