Publications by authors named "P Sohier"
Aims: Sebaceous neoplasms constitute a group of adnexal tumours, including sebaceous adenoma, sebaceoma and sebaceous carcinoma. Although mismatch repair deficiency may be observed, the nature of the genetic alterations contributing to the development of most of these tumours is still unknown. In the present study, we describe the clinical, microscopic, and molecular features of eight sebaceomas with GRHL gene rearrangement.
View Article and Find Full Text PDFThe histological similarities between pleomorphic adenomas (PAs) and cutaneous mixed tumors (CMTs) found in certain facial regions can create a diagnostic challenge. Molecular findings reveal common genetic profiles, particularly PLAG1 rearrangements in both PA and CMT. Although molecular distinctions have received limited attention, our observations indicate multiple cases of CMTs carrying the TRPS1::PLAG1 fusion.
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- - Naevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic condition caused by mutations in the Sonic Hedgehog (SHH) pathway, leading to early development of multiple basal cell carcinomas (BCCs) and related skin tumors like basaloid follicular hamartoma (BFH).
- - A study analyzed 140 skin tumors from NBCCS patients and 140 control BCC tumors to compare their morphological characteristics, finding that BFH was exclusively present in NBCCS patients and had distinct histopathological features.
- - The research indicates that BFH could represent precursors to BCC, as it was identified in up to 24% of the tumors in NBCCS patients, with possible
Article Synopsis
- * Researchers discovered that the hormone hepcidin is highly expressed in the skin of psoriasis patients, particularly those with treatment-resistant pustular forms.
- * In experiments with mice, high levels of hepcidin in skin cells caused excessive skin growth and immune cell attraction, suggesting hepcidin plays a key role in psoriasis and could be a target for new treatments.
Article Synopsis
- The study investigates 16 primary cutaneous carcinomas with mutations in genes that activate the Wnt/β-catenin pathway, noting that these tumors lack matrical differentiation, which is typically associated with such mutations.
- The tumors predominantly affected elderly patients, with a median age of 80, and were mainly located on the head, neck, and upper limbs, leading to metastatic cases in some patients.
- Key findings include poor differentiation in tumor structure, distinct immunohistochemical profiles, and recurrent mutations in APC and CTNNB1, indicating that these tumors represent a unique group apart from other established skin tumor types.