Publications by authors named "Calonje E"

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 PDF
Article Synopsis
  • The Spitz group of melanocytic tumors should ideally include those with specific genomic changes like kinase receptor fusions and HRAS mutations, while traditional melanoma markers like BRAF mutations indicate a different diagnosis.
  • A study involving 70 melanocytic tumors utilized targeted sequencing to differentiate between Spitz and conventional melanomas and clarify their classifications.
  • The findings revealed substantial discrepancies in initial diagnoses, with 34% of cases having differing outcomes after molecular analysis, highlighting the need for genetic testing to improve diagnostic reliability in challenging cases.
View Article and Find Full Text PDF

Rhinophyma is the advanced stage of rosacea and manifests clinically with disfigurement of the nose. The histopathology has been classified into classical and severe types. We studied the clinicopathological characteristics of 8 cases with the diagnosis of rhinophyma.

View Article and Find Full Text PDF
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.
View Article and Find Full Text PDF
Article Synopsis
  • The diagnosis of herpes zoster (HZ) can be complicated by atypical histological presentations that don’t show the usual viral changes.
  • The review focuses on the existing research around these atypical skin manifestations and highlights the importance of recognizing subtle hints in the histology.
  • Techniques like immunohistochemistry are discussed to aid in accurate diagnosis, along with common mistakes that can occur in this process.
View Article and Find Full Text PDF

Aims: There have been exceptional reports of morphoea presenting with epidermal changes overlapping histopathologically with cutaneous T cell lymphoma of the mycosis fungoides type (MF). This phenomenon gives rise to an ambiguous clinicopathological scenario in which distinguishing these conditions may be challenging. The aim of this study is to characterise the clinical, histopathological and molecular findings of this phenomenon through a case series.

View Article and Find Full Text PDF
Article Synopsis
  • Cutaneous mixed tumors are categorized into apocrine and eccrine types, with apocrine tumors commonly featuring a unique plasmacytoid myoepithelial component, particularly in hyaline cell-rich types.
  • This study analyzed 41 cases, revealing that apocrine tumors frequently exhibited PLAG1 and HMGA2 fusions, while eccrine tumors showed distinct SOX10 internal duplications through RNA sequencing.
  • Clustering analysis highlighted the genetic differences across tumor types, confirming a unique profile for eccrine mixed tumors and establishing relationships among various tumor types, contributing to a deeper understanding of their molecular characteristics.
View Article and Find Full Text PDF

Recurrent oncogenic drivers have been identified in a variety of sweat gland tumors. Recently, integration of human papillomavirus type 42 (HPV42) has been reported in digital papillary adenocarcinoma (DPA). The main objectives of the present study were (i) to provide an overview of the prevalence of previously identified oncogenic drivers in acral sweat gland tumors and (ii) to genetically characterize tumors in which no recurrent genetic alteration has been identified yet.

View Article and Find Full Text PDF

Digital papillary adenocarcinoma (DPA) is a rare sweat gland neoplasm that has exceptionally been reported outside acral locations. Recently, human papillomavirus 42 was identified as the main oncogenic driver of DPA. Herein, we report 5 tumors arising in extra-acral locations predominantly in the female anogenital skin.

View Article and Find Full Text PDF

Aims: Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of the sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent YAP1::MAML2 and YAP1::NUTM1 fusion in poroma and porocarcinoma.

View Article and Find Full Text PDF
Article Synopsis
  • Despite existing checkpoint inhibitor therapies, about half of melanoma patients still struggle with poor outcomes.
  • A new engineered monoclonal IgE antibody targeting the CSPG4 antigen shows promise by binding to melanoma cells and enhancing immune responses.
  • In studies, this IgE therapy significantly improved survival and anti-tumor activity in models, suggesting its potential as an effective treatment option for melanoma patients.
View Article and Find Full Text PDF

: There is a broad spectrum of vulvar pigmented lesions that differ based on their histopathological and clinical features. Chronic vulvar purpura is a rare entity, associated with a broad morphological spectrum, from lichen aureus, Zoon's vulvitis, pigmented purpuric dermatosis and with lichen planus as in our case. In this article we discuss a case of an 86-year-old white woman with hyperpigmentation on her upper vulva, next to the introitus, with complaints of urine incontinence.

View Article and Find Full Text PDF

Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive monogenic autoinflammatory syndrome that is classically characterised by polyarteritis nodosa, systemic vasculitis and stroke. The spectrum of disease manifestations has broadened to encompass a range of cutaneous, vascular and haematological manifestations. We report a novel association in two sisters with heterozygous p.

View Article and Find Full Text PDF

Unlabelled: The skin is exposed to viral pathogens, but whether they contribute to the oncogenesis of skin cancers has not been systematically explored. Here we investigated 19 skin tumor types by analyzing off-target reads from commonly available next-generation sequencing data for viral pathogens. We identified human papillomavirus 42 (HPV42) in 96% (n = 45/47) of digital papillary adenocarcinoma (DPA), an aggressive cancer occurring on the fingers and toes.

View Article and Find Full Text PDF

In the UK, sea urchin-related injuries (SUIs) most commonly present in returning travellers. Delayed complications mainly affect the skin but nerves, tendons, joints and bones may also be involved. The management of chronic reactions may be challenging and a variety of approaches have been described.

View Article and Find Full Text PDF

Encorafenib is a BRAF inhibitor increasingly used as a second-line treatment for metastatic melanoma and colorectal cancer. BRAF inhibitors have been reported to be associated with new and changing melanocytic lesions, including eruptive naevi. We describe two cases of eruptive naevi secondary to encorafenib used for the treatment of BRAF-mutant metastatic colorectal cancer.

View Article and Find Full Text PDF

Melanocytic lesions in the nail apparatus are often challenging. Both subungual melanomas (SUM) and blue naevus of the nail are very rare. Occasionally, melanomas may mimic blue naevus histologically.

View Article and Find Full Text PDF