A5084291360- Sarcoma Diagnosis and Treatment
- Cutaneous Melanoma Detection and Management
- Cancer Genomics and Diagnostics
- Melanoma and MAPK Pathways
- Cancer and Skin Lesions
- Tumors and Oncological Cases
- Glioma Diagnosis and Treatment
- Soft tissue tumor case studies
- Vascular Tumors and Angiosarcomas
- Ear and Head Tumors
- Salivary Gland Tumors Diagnosis and Treatment
- Ocular Oncology and Treatments
- Oral and Maxillofacial Pathology
- melanin and skin pigmentation
- Bone Tumor Diagnosis and Treatments
- Cardiac tumors and thrombi
- Ovarian cancer diagnosis and treatment
- Cancer Mechanisms and Therapy
- Chromatin Remodeling and Cancer
- Lung Cancer Treatments and Mutations
- Nonmelanoma Skin Cancer Studies
- RNA regulation and disease
- Protein Degradation and Inhibitors
- Autoimmune Neurological Disorders and Treatments
- Neurofibromatosis and Schwannoma Cases
Centre Léon Bérard
2016-2025
Université Claude Bernard Lyon 1
2013-2025
Centre de Recherche en Cancérologie de Lyon
2016-2025
Inserm
2013-2025
Cancer Research Center
2018-2025
Centre National de la Recherche Scientifique
2018-2025
Centro de Investigación del Cáncer
2024
Hospices Civils de Lyon
2015-2022
Institut NeuroMyoGène
2022
Centre Hospitalier Universitaire de Tours
2021
SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with an aggressive clinical course and specific genetic alterations of the BAF chromatin remodeling complex. In present study, we reviewed pathologic features 30 cases SMARCA4-DTS, discussed its main differential diagnoses challenging diagnostic scenarios that average pathologist may face. addition, tested specificity "SMARCA4-DTS immunohistochemical signature" (co-loss SMARCA4 SMARCA2 overexpression SOX2) in...
Micro-RNAs (miRNA) are currently used as cancer biomarkers for hematological cancers and solid tumors. Osteosarcoma is the first primary malignant bone tumor, characterized by a complex genetic resistance to conventional treatments. For this latter property, median survival has not been improved since 1990 despite preoperative administration of chemotherapeutic agents. The prediction tumor response before chemotherapy treatment would constitute major progress pathology. We assessed in study...
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...
CIC -fused sarcomas represent an emerging family of tumors, for long connected to the Ewing group but underlined by distinct fusions with different partners. 3′ Fusion partners include DUX4 , FOXO4 and, as recently emphasized, NUTM1. In this study, we report clinicopathologic and molecular features a series 6 CIC-NUTM1 sarcomas. Mean age at diagnosis was years (2 27 y), 4 patients were male individuals. Primary tumors located in central nervous system (n=3), paravertebral soft tissue...
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...
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...
The 2015 WHO classification of tumors categorized malignant mesothelioma into epithelioid, biphasic (BMM), and sarcomatoid (SMM) for prognostic relevance treatment decisions. survival BMM is suspected to correlate with the amount component. criteria a component interobserver variability between pathologists identifying this are not well described. In ambiguous cases, "transitional" (TMM) subtype has been proposed but was accepted as specific in classification. aims study were evaluate...
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...
Recurrent gene fusions are common in salivary gland tumors including benign tumors, such as pleomorphic adenoma (PA) and myoepithelioma (ME). In cases where chromosomal rearrangement is identified the 1 (PLAG1) gene, different partners found. Oncocytic metaplasia, characterized by oncocytes with abundant eosinophilic granular cytoplasm hyperchromatic nuclei, a well-known phenomenon neoplasms. However, pure oncocytic variant of PA/ME showed PLAG1 rearrangements involving various at molecular...
Sarcomas are rare, heterogenous, and often difficult to classify. A large proportion of sarcomas associated with specific molecular genetic lesions such as translocations, mutations, amplifications, which helpful in the diagnosis individual cases. However, exact impact genetics on final is unknown. In this study, all soft tissue visceral arising patients living 3 European regions 2 countries (representing 13 million inhabitants) were collected reviewed during consecutive years. analysis was...
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...
Rhabdomyosarcoma (RMS) encompasses a heterogenous collection of tumors in which new groups have recently been identified that improved the World Health Organization (WHO) classification. While performing RNA-sequencing our routine practice, we 3 cases well-differentiated RMS harboring fusion genes. We also analyzed these through array-comparative genomic hybridization. Clinically, were deep paraspinal tumors, occurring neo-nat and young children. The patients underwent resection adjuvant...