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Pathology Oncology Research : POR Oct 2018Conjunctival melanoma is a rare but sight and life threatening malignancy. It accounts for 2%-5% of all ocular tumours and 5%-7% of all ocular melanomas with an... (Review)
Review
Conjunctival melanoma is a rare but sight and life threatening malignancy. It accounts for 2%-5% of all ocular tumours and 5%-7% of all ocular melanomas with an incidence of 0.2-0.8 per million in the Caucasian population with rare cases reported in the non-Caucasians. In recent decades the incidence of uveal melanoma has been relatively stable whilst conjunctival and cutaneous melanoma have shown increasing incidence which may be connected to the result of environmental exposure to ultraviolet light. The dissimilarity in incidence between light and dark pigmented individuals observed in conjunctival melanomas compared to uveal and cutaneous melanomas may be related to differences in their histological structures and genetic profile. Recent molecular biological studies support the fact that each type of melanoma undergoes its own molecular changes and has characteristic biological behaviour. Further studies are required for each type of melanoma in order to ascertain their individual etiology and pathogenesis and based on this knowledge develop relevant preventative and treatment procedures.
Topics: Conjunctival Neoplasms; Humans; Incidence; Melanoma
PubMed: 29802540
DOI: 10.1007/s12253-018-0419-3 -
The Oncologist Aug 2022Acral and mucosal melanomas (MM) are rare subtypes of melanoma that are biologically and clinically distinct from cutaneous melanoma. Despite the progress in the... (Review)
Review
Acral and mucosal melanomas (MM) are rare subtypes of melanoma that are biologically and clinically distinct from cutaneous melanoma. Despite the progress in the treatment of cutaneous melanomas with the development of targeted and immune therapies, the therapeutic options for these less common subtypes remain limited. Difficulties in early diagnosis, the aggressive nature of the disease, and the frequently occult sites of origin have also contributed to the poor prognosis associated with acral and MM, with substantially worse long-term prognosis. The rarity of these subtypes has posed significant barriers to better understanding their biological features and investigating novel therapies. Consequently, establishing standardized treatment guidelines has been a challenge. In this review, we provide a brief overview of the current knowledge regarding acral and MM, focusing on their epidemiology, genetic backgrounds, and unique clinical characteristics. Further discussion centers around the management of primary and advanced disease and the role of emerging targeted and immune therapies for these subtypes, specifically focusing on issues relevant to medical oncologists.
Topics: Humans; Medical Oncology; Melanoma; Mutation; Skin Neoplasms; Melanoma, Cutaneous Malignant
PubMed: 35640549
DOI: 10.1093/oncolo/oyac091 -
Comptes Rendus Biologies Nov 2021Melanocytes are located in various parts of the human body, such as the skin and the eye. Their transformation leads to melanoma, an aggressive and deadly neoplasm.... (Review)
Review
Melanocytes are located in various parts of the human body, such as the skin and the eye. Their transformation leads to melanoma, an aggressive and deadly neoplasm. Cutaneous and uveal melanomas show different characteristics, including significant differences in genetic alterations, metastatic sites and therapeutic response. In recent decades, great efforts have been made to obtain a more comprehensive understanding of genetics, genomics and molecular changes, enabling the identification of key cellular processes and signaling pathways in melanomas. Major breakthroughs were realized in the treatment of metastatic cutaneous melanoma, but most patients relapse. Currently, there is no approved systemic treatment for metastatic uveal melanoma. Thus, these two different cancers are in therapeutic need to overcome treatment failure and improve patient prognosis. In this review we discuss on one hand the mutation of MITF, the master gene of melanocyte homeostasis, which we identified as a new melanoma predisposition gene in cutaneous melanoma, and on the other hand the recent findings of intratumor heterogeneity and characterization of cell sub-populations in primary uveal melanomas. These studies offer new tools for early detection and therapeutic targets.
Topics: Humans; Melanoma; Skin Neoplasms; Uveal Neoplasms; Melanoma, Cutaneous Malignant
PubMed: 35786627
DOI: 10.5802/crbiol.63 -
Ugeskrift For Laeger Nov 2023Disturbances of the nail apparatus are common and mainly benign. This review aims to investigate the aetiology of these disturbances, which range from more common benign... (Review)
Review
Disturbances of the nail apparatus are common and mainly benign. This review aims to investigate the aetiology of these disturbances, which range from more common benign causes to less common melanomas. Melanonychia may be the most prominent concern and is characterised by brown or black nail plate discoloration. Hence, understanding the most common nail changes, their epidemiology, pathophysiology, and clinical features are imperative to diagnosis and may prevent unnecessary surgical procedures in cases where it is not warranted.
Topics: Humans; Skin Neoplasms; Dermoscopy; Melanoma; Nails; Nail Diseases
PubMed: 38018740
DOI: No ID Found -
Pigment Cell & Melanoma Research Jan 2021Melanoma is the deadliest form of skin cancer, possessing a diverse landscape of subtypes with distinct molecular signatures and levels of aggressiveness. Although... (Review)
Review
Melanoma is the deadliest form of skin cancer, possessing a diverse landscape of subtypes with distinct molecular signatures and levels of aggressiveness. Although immense progress has been achieved therapeutically for patients with the most common forms of this disease, little is known of how to effectively treat patients with rarer subtypes of melanoma. These subtypes include acral lentiginous (the rarest form of cutaneous melanoma; AL), uveal, and mucosal melanomas, which display variations in distribution across (a) the world, (b) patient age-groups, and (c) anatomic sites. Unfortunately, patients with these relatively rare subtypes of melanoma typically respond worse to therapies approved for the more common, non-AL cutaneous melanoma and do not have effective alternatives, and thus consequently have worse overall survival rates. Achieving durable therapeutic responses in these high-risk melanoma subtypes represents one of the greatest challenges of the field. This review aims to collate and highlight effective preclinical and/or clinical strategies against these rare forms of melanoma.
Topics: Animals; Humans; Melanoma; Rare Diseases; Skin Neoplasms; Melanoma, Cutaneous Malignant
PubMed: 32274887
DOI: 10.1111/pcmr.12880 -
Archives of Pathology & Laboratory... Feb 2008The iris is the least common site of primary uveal melanoma. The prognosis of iris melanoma is better than that of melanoma of the ciliary body and choroid, but the... (Review)
Review
The iris is the least common site of primary uveal melanoma. The prognosis of iris melanoma is better than that of melanoma of the ciliary body and choroid, but the reason for this difference is unclear. One possible explanation is that iris melanoma is smaller than its posterior segment counterparts at the time of diagnosis. Most iris melanomas are spindle cell types, according to a modified Callender classification system. There is evidence that the proliferation of melanocytes of the anterior iris surface (iris plaque) and diffuse stromal invasion may be risk factors for local recurrence and metastasis, respectively.
Topics: Biomarkers, Tumor; Humans; Immunohistochemistry; Iris Neoplasms; Melanoma; Middle Aged; Prognosis; Survival Rate
PubMed: 18251588
DOI: 10.5858/2008-132-268-IM -
Revista Espanola de Enfermedades... Nov 2022The vast majority of malignant melanomas in the small intestine are metastasis of cutaneous tumors. Few cases have been published on primary melanomas in this location,...
The vast majority of malignant melanomas in the small intestine are metastasis of cutaneous tumors. Few cases have been published on primary melanomas in this location, some authors consider that they are always metastatic and that the primary tumor has regressed. In this letter, we present the case of a 77-year-old woman with a history of cutaneous melanoma excision 38 years ago who was diagnosed with ileal melanoma in the absence of other lesions during the study of iron deficiency anemia, and we discuss about the origin of this type of neoplasms.
Topics: Female; Humans; Aged; Melanoma; Skin Neoplasms; Intestine, Small; Ileum
PubMed: 35770591
DOI: 10.17235/reed.2022.8944/2022 -
Genome Medicine Jun 2022Acral and mucosal melanomas are aggressive subtypes of melanoma, which have a significantly lower burden of somatic mutations than cutaneous melanomas, but more frequent... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Acral and mucosal melanomas are aggressive subtypes of melanoma, which have a significantly lower burden of somatic mutations than cutaneous melanomas, but more frequent copy number variations, focused gene amplifications, and structural alterations. The landscapes of their genomic alterations remain to be fully characterized.
METHODS
We compiled sequencing data of 240 human acral and mucosal melanoma samples from 11 previously published studies and applied a uniform pipeline to call tumor cell content, ploidy, somatic and germline mutations, as well as CNVs, LOH, and SVs. We identified genes that are significantly mutated or recurrently affected by CNVs and implicated in oncogenesis. We further examined the difference in the frequency of recurrent pathogenic alterations between the two melanoma subtypes, correlation between pathogenic alterations, and their association with clinical features.
RESULTS
We nominated PTPRJ, mutated and homozygously deleted in 3.8% (9/240) and 0.8% (2/240) of samples, respectively, as a probable tumor suppressor gene, and FER and SKP2, amplified in 3.8% and 11.7% of samples, respectively, as probable oncogenes. We further identified a long tail of infrequent pathogenic alterations, involving genes such as CIC and LZTR1. Pathogenic germline mutations were observed on MITF, PTEN, ATM, and PRKN. We found BRAF V600E mutations in acral melanomas with fewer structural variations, suggesting that they are distinct and related to cutaneous melanomas. Amplifications of PAK1 and GAB2 were more commonly observed in acral melanomas, whereas SF3B1 R625 codon mutations were unique to mucosal melanomas (12.9%). Amplifications at 11q13-14 were frequently accompanied by fusion to a region on chromosome 6q12, revealing a recurrent novel structural rearrangement whose role remains to be elucidated.
CONCLUSIONS
Our meta-analysis expands the catalog of driver mutations in acral and mucosal melanomas, sheds new light on their pathogenesis and broadens the catalog of therapeutic targets for these difficult-to-treat cancers.
Topics: DNA Copy Number Variations; Genomics; Humans; Melanoma; Mutation; Skin Neoplasms; Transcription Factors; Melanoma, Cutaneous Malignant
PubMed: 35706047
DOI: 10.1186/s13073-022-01068-0 -
Singapore Medical Journal Nov 2018Although spongiotic (eczematous), psoriatic and cutaneous skin infections are among the most common in dermatology consultations, melanocytic lesions - including the... (Review)
Review
Although spongiotic (eczematous), psoriatic and cutaneous skin infections are among the most common in dermatology consultations, melanocytic lesions - including the different types of nevi and melanomas - are among those that cause a great deal of concern and stress to patients and their clinicians. A diagnosis of benign melanocytic nevus carries a very good prognosis. However, a diagnosis of melanoma might indicate more aggressive treatment, lifelong surveillance and a worse prognosis. Differentiating between these conditions is not always a straightforward process for clinicians and pathologists. Therefore, knowledge of melanoma mimickers is very important for clinicians in general, and dermatologists and pathologists in particular. In this review, we called attention to some of the more frequent benign but unusual melanocytic lesions that are of diagnostic concern for clinicians evaluating these cutaneous proliferations.
Topics: Cell Proliferation; Diagnosis, Differential; Humans; Incidence; Melanoma; Nevus, Pigmented; Prognosis; Risk; Skin; Skin Neoplasms; United States; Melanoma, Cutaneous Malignant
PubMed: 29774360
DOI: 10.11622/smedj.2018041 -
Acta Dermato-venereologica Sep 2011The increased incidence of cutaneous malignant melanoma, together with only minor changes in mortality, has brought into question the existence of a melanoma epidemic.... (Review)
Review
The increased incidence of cutaneous malignant melanoma, together with only minor changes in mortality, has brought into question the existence of a melanoma epidemic. The discrepancy between incidence and mortality suggests that most newly diagnosed melanomas have indolent behaviour. This review summarizes the most recent epidemiological findings regarding the incidence of cutaneous malignant melanoma, mortality, Breslow thickness and clinical stage. Studies published between 2005 and 2010 with more than 2,000 test subjects were included in this review. These studies all report an increase in incidence of melanoma during the last few decades, with by far the highest increase in tumours at a very early stage (T1 or IA). Little or no change was seen in mortality. However, increases in both mortality and incidence of thick melanomas were found in the oldest subgroups, especially in men. These findings indicate the existence of a certain degree of overdiagnosis of melanoma. They also indicate the existence of two different types of epidemic, for younger and older subgroups.
Topics: Age Factors; Female; Humans; Incidence; Male; Melanoma; Neoplasm Staging; Predictive Value of Tests; Prognosis; Risk Assessment; Risk Factors; Sex Factors; Skin Neoplasms; Time Factors
PubMed: 21874217
DOI: 10.2340/00015555-1177