Acral melanoma is a subtype of melanoma with distinct epidemiological, clinical and mutational profiles. To define the genomic alterations in acral melanoma, we conducted whole-genome sequencing and SNP array analysis of five metastatic tumours and their matched normal genomes. We identified the somatic mutations, copy number alterations and structural variants in these tumours and combined our data with published studies to identify recurrently mutated genes likely to be the drivers of acral melanomagenesis. We compared and contrasted the genomic landscapes of acral, mucosal, uveal and common cutaneous melanoma to reveal the distinctive mutational characteristics of each subtype.
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Acral Lentiginous Melanoma. Part I. Epidemiology, Etiology, Clinical Presentation, and Diagnosis.
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January 2025
Department of Dermatology, George Washington University, Washington, DC. Electronic address:
This review article focuses on acral lentiginous melanoma (ALM), a rare cutaneous malignancy and the least common subtype of cutaneous malignant melanoma (CMM). ALM exhibits distinct characteristics, such as low overall mutation rates and increased chromosomal alterations. It is associated with worse prognosis, more advanced disease, and lower survival rates compared to other CMM subtypes.
View Article and Find Full Text PDFAcral Lentiginous Melanoma. Part II. Staging, Surgical Management, The Role of Systemic Therapy, Shortcomings and Future Directions.
J Am Acad Dermatol
January 2025
Department of Dermatology, Keck School of Medicine, University of Southern California, Los Angeles, CA; Division of Oncology, Keck School of Medicine, University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, CA. Electronic address:
This comprehensive review navigates the clinical management and challenges of acral lentiginous melanoma (ALM), including staging, surgical interventions, and systemic therapies. Multimodality treatment and clinical trials are recommended for advanced cases.
View Article and Find Full Text PDFSingle-cell analysis unveils cell subtypes of acral melanoma cells at the early and late differentiation stages.
J Cancer
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Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital, School of Medicine, Shanghai Jiao Tong University, 639 Zhi Zao Ju Rd, Shanghai, 200011, China.
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View Article and Find Full Text PDFGenomic and Transcriptomic Profiling of Digital Papillary Adenocarcinomas Reveals Alterations in Matrix Remodeling and Metabolic Genes.
J Cutan Pathol
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Department of Pathology and Dermatology, NYU Langone Medical Center, New York, New York, USA.
Background: Digital papillary adenocarcinoma (DPAC) is a rare but aggressive cutaneous malignant sweat gland neoplasm that occurs on acral sites. Despite its clinical significance, the cellular and genetic characteristics of DPAC remain incompletely understood.
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Durvalumab and tremelimumab in patients with advanced rare cancer: a multi-centre, non-blinded, open-label phase II basket trial.
EClinicalMedicine
January 2025
Canadian Cancer Trials Group, Queen's University, Kingston, ON, Canada.
Background: Dual inhibition of cytotoxic T-lymphocyte associated protein 4 (CTLA-4) and programmed death ligand 1 (PD-L1) has been shown to be an effective treatment strategy in many cancers. We sought to determine the objective response rate of combination durvalumab (D) plus tremelimumab (TM) in parallel cohorts of patients with carefully selected rare cancer types in which these agents had not previously been evaluated in phase II trials and for which there was clinical or biological rationale for dual immune checkpoint inhibitor therapy to be active.
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