A5062721118- Cutaneous Melanoma Detection and Management
- Cancer Genomics and Diagnostics
- Melanoma and MAPK Pathways
- Cancer and Skin Lesions
- Ocular Oncology and Treatments
- Sarcoma Diagnosis and Treatment
- Cancer Immunotherapy and Biomarkers
- melanin and skin pigmentation
- Nonmelanoma Skin Cancer Studies
- Immunotherapy and Immune Responses
- Cancer Cells and Metastasis
- Tumors and Oncological Cases
- Genetic and rare skin diseases.
- Cell Adhesion Molecules Research
- Colorectal Cancer Treatments and Studies
- Pancreatic and Hepatic Oncology Research
- Infectious Diseases and Mycology
- Vascular Tumors and Angiosarcomas
- Cutaneous lymphoproliferative disorders research
- CAR-T cell therapy research
- Ferroptosis and cancer prognosis
- Lung Cancer Treatments and Mutations
- Nail Diseases and Treatments
- Cancer Diagnosis and Treatment
- Advanced Breast Cancer Therapies
Université Claude Bernard Lyon 1
2010-2025
Centre Léon Bérard
2016-2025
Inserm
2010-2025
Cancer Research Center
2020-2025
Centre de Recherche en Cancérologie de Lyon
2015-2025
Centre National de la Recherche Scientifique
2010-2025
National Center for Tumor Diseases
2024
University Hospital Carl Gustav Carus
2024
Onco Lille
2023
Immunité et Cancer
2023
Oncogenic gene fusions have been identified in many cancers and serve as biomarkers or targets for therapy. Here we identify six different melanocytic tumours with genomic rearrangements of MET fusing the kinase domain in-frame to N-terminal partners. These lack activating mutations other established melanoma oncogenes. We functionally characterize two fusion proteins (TRIM4-MET ZKSCAN1-MET) find that they constitutively activate mitogen-activated protein (MAPK), phosphoinositol-3 (PI3K)...
Activating kinase fusions have recently been described as early oncogenic events that are mutually exclusive with HRAS and BRAF mutations in Spitz tumors. Here, we report a series of 32 tumors ALK (6 nevi, 22 atypical tumors, 4 spitzoid melanomas) patients ranging from 5 months to 64 years (median=12 y) age. The typically presented exophytic papules on the extremities were occasionally darkly pigmented. In addition previously other tumor types (NPM1-ALK, TPR-ALK), identified 2 novel...
Deep penetrating nevus (DPN) is characterized by enlarged, pigmented melanocytes that extend through the dermis. DPN can be difficult to distinguish from melanoma but rarely displays aggressive biological behavior. Here, we identify a combination of mutations β-catenin and mitogen-activated protein kinase pathways as characteristic DPN. Mutations pathway change phenotype common with BRAF mutation into DPN, increased pigmentation, cell volume nuclear cyclin D1 levels. Our results suggest...
Research Article5 September 2016Open Access Source DataTransparent process ZEB1-mediated melanoma cell plasticity enhances resistance to MAPK inhibitors Geoffrey Richard Cancer Center of Lyon, INSERM U1052, France CNRS UMR 5286, Université de ISPB, Lyon 1, Centre Léon Bérard, Search for more papers by this author Stéphane Dalle Dermatology Unit, Hospices Civils CH Sud, Pierre Bénite Cedex, Marie-Ambre Monet Maud Ligier Amélie Boespflug Roxane M Pommier Arnaud la Fouchardière Department...
Melanomas associated with blue nevi (MABN) or mimicking cellular (MMCBN) represent exceptional variants of malignant cutaneous melanocytic tumors. Uveal and leptomeningeal melanomas frequently have somatic mutations GNAQ GNA11, which are believed to be early driver mutations. In uveal melanomas, monosomy 3, linked the BAP1 gene, is an adverse prognostic factor. We studied clinical, histologic, expression profile, molecular data 11 cases MABN/MMCBN 24 nevi. Most occurred on scalps adult...
Background The efficacy of immunotherapies in metastatic melanoma depends on a robust T cell infiltration. Oncogenic alterations tumor cells have been associated to exclusion. Identifying novel cancer cell-intrinsic non-genetic mechanisms immune escape, the targeting which would reinstate recruitment, allow restore response anti-programmed death protein 1 (PD-1) antibody therapy. epithelial-to-mesenchymal transition (EMT)-inducing transcription factor ZEB1 is major regulator plasticity,...
Abstract Many neoplasms remain unclassified after histopathological examination, which requires further molecular analysis. To this regard, mesenchymal are particularly challenging due to the combination of their rarity and large number subtypes, many entities still lack robust diagnostic hallmarks. RNA transcriptomic profiles have proven be a reliable basis for classification previously tumors notably neoplasms. Using exome‐based capture sequencing on more than 5000 samples archival...
Importance A standardized pathology classification system for melanocytic lesions is needed to aid both pathologists and clinicians in cataloging currently existing diverse terminologies the diagnosis treatment of patients. The Melanocytic Pathology Assessment Tool Hierarchy Diagnosis (MPATH-Dx) has been developed this purpose. Objective To revise MPATH-Dx version 1.0 tool, using feedback from dermatopathologists participating National Institutes Health–funded Reducing Errors Interpretations...
The BRCA1‐associated protein 1 ( BAP1 ) gene encodes a nuclear deubiquitin enzyme which acts as tumour suppressor. Loss of function germline mutations have been associated with an enhanced risk uveal and cutaneous melanomas, mesothelioma, clear cell renal cancer atypical melanocytic proliferations. In two independent families, we noticed unusual frequency basal carcinomas (BCCs). Indeed, 19 BCCs were diagnosed in four patients, either superficial (13/19) or nodular (6/19) subtype; they all...
Activating NTRK1 fusions have been described as oncogenic events across the spectrum of Spitz tumors. Herein we report a series 38 tumors with fusion. These distinctive histopathologic features characterized by filigree-like rete ridges which are elongated, thin and branched, dermal melanocytes arranged in rosette-like configuration, marked diminishment melanocyte size descent into dermis. distinct from those other genetically defined subtypes can aid microscopic diagnosis help prioritize...
Aims Porocarcinoma is a malignant sweat gland tumour differentiated toward the upper part of duct and may arise from transformation preexisting benign poroma. In 2019, Sekine et al. demonstrated presence YAP1::MAML2 YAP1::NUTM1 fusions in most poromas porocarcinomas. Recently, our group identified PAK2‐ subset poromas. Herein we report series 12 porocarcinoma cases harbouring PAK1/2/3 fusions. Methods Results Five patients were male median age was 79 years (ranges: 59–95). Tumours located on...
We report 5 cases of primary intradermal nodular unpigmented tumors with a melanocytic immunophenotype associated novel CRTC1-TRIM11 fusion. Clinically, the cutaneous nodules were slowly growing in 3 women and 2 men (25 to 82 y old, median, 28 y) no specific topography. Lesion size ranged from 4 12 mm (median, mm). The strictly located dermis pattern. cells arranged confluent nests fascicules. Central fibronecrotic areas present cases. Cells medium large, sometimes multinucleated, presented...
Abstract Gaps in the translation of research findings to clinical management have been recognized for decades. They exist diagnosis as well cancer. The international standards cancer are contained within World Health Organization (WHO) Classification Tumours, published by International Agency Research on Cancer (IARC) and known worldwide WHO Blue Books. In addition their relevance individual patients, these volumes provide a valuable contribution surveillance, fulfilling an important role...
Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMTCT) is a recently described dermally based neoplasm differentiation. It can easily be confused clear cell sarcoma and metastatic melanoma. Our understanding of this lesion, including its potential for aggressive disease, has been limited by the small number previously reported cases (13) clinical follow-up data. Here, we report series 41 CMTCT confirmed molecular studies. We find that lesion shows highly uniform reproducible...
Recurrent oncogenic drivers have been identified in a variety of sweat gland tumors. Recently, integration human papillomavirus type 42 (HPV42) has reported digital papillary adenocarcinoma (DPA). The main objectives the present study were (i) to provide an overview prevalence previously acral tumors and (ii) genetically characterize which no recurrent genetic alteration yet. Cases from database French network CARADERM. After histologic review, presence alterations was investigated entire...