379 results on '"Eduardo Calonje"'
Search Results
2. Anti-cancer pro-inflammatory effects of an IgE antibody targeting the melanoma-associated antigen chondroitin sulfate proteoglycan 4
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Jitesh Chauhan, Melanie Grandits, Lais C. G. F. Palhares, Silvia Mele, Mano Nakamura, Jacobo López-Abente, Silvia Crescioli, Roman Laddach, Pablo Romero-Clavijo, Anthony Cheung, Chara Stavraka, Alicia M. Chenoweth, Heng Sheng Sow, Giulia Chiaruttini, Amy E. Gilbert, Tihomir Dodev, Alexander Koers, Giulia Pellizzari, Kristina M. Ilieva, Francis Man, Niwa Ali, Carl Hobbs, Sara Lombardi, Daniël A. Lionarons, Hannah J. Gould, Andrew J. Beavil, Jenny L. C. Geh, Alastair D. MacKenzie Ross, Ciaran Healy, Eduardo Calonje, Julian Downward, Frank O. Nestle, Sophia Tsoka, Debra H. Josephs, Philip J. Blower, Panagiotis Karagiannis, Katie E. Lacy, James Spicer, Sophia N. Karagiannis, and Heather J. Bax
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Science - Abstract
Abstract Outcomes for half of patients with melanoma remain poor despite standard-of-care checkpoint inhibitor therapies. The prevalence of the melanoma-associated antigen chondroitin sulfate proteoglycan 4 (CSPG4) expression is ~70%, therefore effective immunotherapies directed at CSPG4 could benefit many patients. Since IgE exerts potent immune-activating functions in tissues, we engineer a monoclonal IgE antibody with human constant domains recognizing CSPG4 to target melanoma. CSPG4 IgE binds to human melanomas including metastases, mediates tumoricidal antibody-dependent cellular cytotoxicity and stimulates human IgE Fc-receptor-expressing monocytes towards pro-inflammatory phenotypes. IgE demonstrates anti-tumor activity in human melanoma xenograft models engrafted with human effector cells and is associated with enhanced macrophage infiltration, enriched monocyte and macrophage gene signatures and pro-inflammatory signaling pathways in the tumor microenvironment. IgE prolongs the survival of patient-derived xenograft-bearing mice reconstituted with autologous immune cells. No ex vivo activation of basophils in patient blood is measured in the presence of CSPG4 IgE. Our findings support a promising IgE-based immunotherapy for melanoma.
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- 2023
- Full Text
- View/download PDF
3. Vulvar Lichen Planus Presenting as Chronic Vulvar Purpura
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Boštjan Luzar, Anamarija Truden, Lara Turk, Vid Janša, Fiona Lewis, Eduardo Calonje, and Špela Smrkolj
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chronic vulvar purpura ,vulvar lichen planus ,Zoon’s vulvitis ,lichen aureus ,pigmented purpuric dermatosis ,Medicine (General) ,R5-920 - Abstract
Background: 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. Case presentation: 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. Biopsy revealed subepithelial stromal lichenoid inflammatory infiltrate containing plasma cells, lymphocytes and some neutrophilic granulocytes as well as dilated and congested vessels. Hemosiderin deposits and erythrocyte extravasation were found. There was evidence of hyperkeratosis with hyper granulosis and erosions. Spongiosis was also noted. Few melanocytes were identified with no sign of malignancy. These findings correlate with the diagnosis of vulvar lichen planus. Conclusions: Chronic vulvar purpura is a clinical term used for different chronic inflammatory dermatoses presenting as red bluish or violaceous discolorations on the vulva, often associated with cayenne-pepper-like speckling. Considering a great overlap of possible diseases, the final diagnosis could be challenging. It is important to exclude a melanocytic tumour in these cases.
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- 2023
- Full Text
- View/download PDF
4. Compartmentalized Epidermal Activation of β-Catenin Differentially Affects Lineage Reprogramming and Underlies Tumor Heterogeneity
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Kai Kretzschmar, Christine Weber, Ryan R. Driskell, Eduardo Calonje, and Fiona M. Watt
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Biology (General) ,QH301-705.5 - Abstract
Wnt/β-catenin activation in adult epidermis can induce new hair follicle formation and tumor development. We used lineage tracing to uncover the relative contribution of different stem cell populations. LGR6+ and LRIG1+ stem cells contributed to ectopic hair follicles formed in the sebaceous gland upon β-catenin activation, whereas LGR5+ cells did not. Lgr6, but not Lrig1 or Lgr5, was expressed in a subpopulation of interfollicular epidermal cells that were competent to form new hair follicles. Oncogenic β-catenin expression in LGR5+ cells led to formation of pilomatricomas, while LRIG1+ cells formed trichoadenomas and LGR6+ cells formed dermatofibromas. Tumor formation was always accompanied by a local increase in dermal fibroblast density and transient extracellular matrix remodeling. However, each tumor had a distinct stromal signature in terms of immune cell infiltrate and expression of CD26 and CD44. We conclude that compartmentalization of epidermal stem cells underlies different responses to β-catenin and skin tumor heterogeneity.
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- 2016
- Full Text
- View/download PDF
5. Elevated IgG4 in patient circulation is associated with the risk of disease progression in melanoma
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Panagiotis Karagiannis, Federica Villanova, Debra H Josephs, Isabel Correa, Mieke Van Hemelrijck, Carl Hobbs, Louise Saul, Isioma U Egbuniwe, Isabella Tosi, Kristina M Ilieva, Emma Kent, Eduardo Calonje, Mark Harries, Ian Fentiman, Joyce Taylor-Papadimitriou, Joy Burchell, James F Spicer, Katie E Lacy, Frank O Nestle, and Sophia N Karagiannis
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B cells ,biomarker ,cancer inflammation ,humoral response ,immunomodulation ,immunomonitoring ,Immunologic diseases. Allergy ,RC581-607 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Emerging evidence suggests pathological and immunoregulatory functions for IgG4 antibodies and IgG4+ B cells in inflammatory diseases and malignancies. We previously reported that IgG4 antibodies restrict activation of immune effector cell functions and impair humoral responses in melanoma. Here, we investigate IgG4 as a predictor of risk for disease progression in a study of human sera (n = 271: 167 melanoma patients; 104 healthy volunteers) and peripheral blood B cells (n = 71: 47 melanoma patients; 24 healthy volunteers). IgG4 (IgG4/IgGtotal) serum levels were elevated in melanoma. High relative IgG4 levels negatively correlated with progression-free survival (PFS) and overall survival. In early stage (I–II) disease, serum IgG4 was independently negatively prognostic for progression-free survival, as was elevation of IgG4+ circulating B cells (CD45+CD22+CD19+CD3−CD14−). In human tissues (n = 256; 108 cutaneous melanomas; 56 involved lymph nodes; 60 distant metastases; 32 normal skin samples) IgG4+ cell infiltrates were found in 42.6% of melanomas, 21.4% of involved lymph nodes and 30% of metastases, suggesting inflammatory conditions that favor IgG4 at the peripheral and local levels. Consistent with emerging evidence for an immunosuppressive role for IgG4, these findings indicate association of elevated IgG4 with disease progression and less favorable clinical outcomes. Characterizing immunoglobulin and other humoral immune profiles in melanoma might identify valuable prognostic tools for patient stratification and in the future lead to more effective treatments less prone to tumor-induced blockade mechanisms.
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- 2015
- Full Text
- View/download PDF
6. CorrespondenceExtramammary Paget disease in a patient with hidradenitis suppurativa
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Conn McGrath, Roberto Corso, Andrew Williams, Nick Watkin, Eduardo Calonje, Ellie Rashidghamat, and Helena Malhomme de la Roche
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Dermatology - Published
- 2022
7. Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2
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Eugene Liat Hui Ong, Samantha Cooray, Paul Brogan, and Eduardo Calonje
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Adenosine Deaminase ,Mutation ,Humans ,Intercellular Signaling Peptides and Proteins ,Dermatology ,General Medicine ,Sweet Syndrome ,Polyarteritis Nodosa ,Pathology and Forensic Medicine - Abstract
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.R169G/p.M309l mutations in ADA2 with low serum ADA2 activity who both presented similarly with clinical and histological features consistent with histiocytoid Sweet syndrome.
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- 2022
8. Subungual melanoma with blue naevus-like morphological features: a clinicopathological retrospective analysis of nine cases
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Blanca Martin, Arnaud de la Fouchardiere, Dorota Markiewicz, Elvira Bartolo, Kapil Bhargava, Fiona Lewis, and Eduardo Calonje
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Diagnosis, Differential ,Nail Diseases ,Skin Neoplasms ,Nevus, Blue ,Humans ,Melanoma ,Retrospective Studies ,Pathology and Forensic Medicine - Abstract
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. Benign and malignant blue melanocytic lesions are commonly associated with G protein mutations, a distinct abnormality not associated with conventional subungual melanomas. We describe the clinical, histological and immunohistochemical features of nine cases of SUM with blue naevus-like morphological features. Mutations in exon 4 and 5 of GNAQ and GNA11 were investigated in two cases, which showed no mutations. RNA-seq of one case revealed unknown mutations along with mutations in ATM, METK and ARID1A. Our study delineates a variant of SUM that mimics blue naevus. Awareness of this pitfall is important when evaluating heavily pigmented lesions around the nail in order to avoid misdiagnosis. Appropriate sampling of subungual lesions and clinicopathological correlation are paramount to reach the correct diagnosis.
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- 2022
9. Recurrent PAK2 rearrangements in poroma with folliculo‐sebaceous differentiation
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Thibault Kervarrec, Daniel Pissaloux, Sandrine Paindavoine, Franck Tirode, Amélie Osio, Samia Mourah, Fanélie Jouenne, Pierre Sohier, Eduardo Calonje, Agnes Pekar, Evelyn Vanesa Erazo Luna, Keisuke Goto, Flore Delalande, Eric Frouin, Nicolas Macagno, Françoise Drouot, Monique Faisan, Bernard Cribier, Maxime Battistella, and Arnaud de la Fouchardière
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Histology ,General Medicine ,Pathology and Forensic Medicine - Published
- 2023
10. Clinical, histopathological and prognostic features of primary cutaneous acral <scp>CD8</scp> + T‐cell lymphoma and other dermal <scp>CD8</scp> + cutaneous lymphoproliferations: results of an <scp>EORTC</scp> Cutaneous Lymphoma Group workshop*
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Werner Kempf, Tony Petrella, Rein Willemze, Patty Jansen, Emilio Berti, Marco Santucci, Eva Geissinger, Lorenzo Cerroni, Eve Maubec, Maxime Battistella, John Goodlad, Emmanuella Guenova, Katariina Lappalainen, Annamari Ranki, Paul Craig, Eduardo Calonje, Blanca Martin, Sean Whittaker, Ilske Oschlies, Ulrike Wehkamp, Jan P. Nicolay, Marion Wobser, Julia Scarisbruck, Nicola Pimpinelli, Rudi Stadler, Katrin Kerl French, Pietro Quaglino, Jinran Lin, Lianjun Chen, Michaela Beer, Patrick Emanuel, Stephane Dalle, and Alistair Robson
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Dermatology - Published
- 2022
11. Supplementary Table S12 from Human Papillomavirus 42 Drives Digital Papillary Adenocarcinoma and Elicits a Germ Cell–like Program Conserved in HPV-Positive Cancers
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Anna C. Obenauf, Thomas Wiesner, Klaus G. Griewank, Frank Stubenrauch, Arno Rütten, Eduardo Calonje, Lorenzo Cerroni, Reinhard Kirnbauer, Babak Itzinger-Monshi, Klaus J. Busam, Rajmohan Murali, Etienne Coyaud, Kamel Bachiri, Estelle Laurent, Thibault Kervarrec, Karl Mechtler, Michael Schutzbier, Alexander Schleiffer, Thomas L. Steinacker, Shona M. Cronin, Pauline S. Jung, Tobias Neumann, and Lukas Leiendecker
- Abstract
HPV42 consensus genomes.
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- 2023
12. Data from Human Papillomavirus 42 Drives Digital Papillary Adenocarcinoma and Elicits a Germ Cell–like Program Conserved in HPV-Positive Cancers
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Anna C. Obenauf, Thomas Wiesner, Klaus G. Griewank, Frank Stubenrauch, Arno Rütten, Eduardo Calonje, Lorenzo Cerroni, Reinhard Kirnbauer, Babak Itzinger-Monshi, Klaus J. Busam, Rajmohan Murali, Etienne Coyaud, Kamel Bachiri, Estelle Laurent, Thibault Kervarrec, Karl Mechtler, Michael Schutzbier, Alexander Schleiffer, Thomas L. Steinacker, Shona M. Cronin, Pauline S. Jung, Tobias Neumann, and Lukas Leiendecker
- Abstract
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. We show that HPV42, so far considered a nononcogenic, “low-risk” HPV, recapitulates the molecular hallmarks of oncogenic, “high-risk” HPVs. Using machine learning, we find that HPV-driven transformation elicits a germ cell–like transcriptional program conserved throughout all HPV-driven cancers (DPA, cervical carcinoma, and head and neck cancer). We further show that this germ cell–like transcriptional program, even when reduced to the top two genes (CDKN2A and SYCP2), serves as a fingerprint of oncogenic HPVs with implications for early detection, diagnosis, and therapy of all HPV-driven cancers.Significance:We identify HPV42 as a uniform driver of DPA and add a new member to the short list of tumorigenic viruses in humans. We discover that all oncogenic HPVs evoke a germ cell–like transcriptional program with important implications for detecting, diagnosing, and treating all HPV-driven cancers.See related commentary by Starrett et al., p. 17.This article is highlighted in the In This Issue feature, p. 1
- Published
- 2023
13. Spontaneous resolution of lentigo maligna: a case report
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Maged Daruish, Rakesh Patalay, and Eduardo Calonje
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Dermatology - Abstract
A 64-year-old man with a known history of psoriasis was under regular clinical and reflectance confocal microscopy follow-up for a biopsy-proven lentigo maligna on his right forehead. Five years after the initial diagnosis the lesion gradually disappeared with no concurrent effective treatment. Spontaneous resolution is reported in various skin tumours but to our knowledge, this phenomenon has not been previously described in lentigo maligna.
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- 2023
14. Other Malignant Vulval Tumours
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Zlatko Marusic and Eduardo Calonje
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- 2022
15. Benign Vulval Tumours
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Zlatko Marusic and Eduardo Calonje
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- 2022
16. Benign Vulval Naevi
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Zlatko Marusic and Eduardo Calonje
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- 2022
17. Recurrent <scp>FOXK1</scp> :: <scp>GRHL</scp> and <scp>GPS2</scp> :: <scp>GRHL</scp> fusions in trichogerminoma
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Thibault Kervarrec, Daniel Pissaloux, Jeremie Poilane, Franck Tirode, Anne Tallet, Christine Collin, Matthias Tallegas, Patricia Berthon, Pauline Gaboriaud, Pierre Sohier, Eduardo Calonje, Boštjan Luzar, Keisuke Goto, Kristof Cokelaere, Laurence Lamant, Brigitte Balme, Richard Wild, Agnes Neuville, Lydia Deschamps, Elisabeth Auberger, Veronique Paumier, Helene Bonte, Isabelle Moulonguet, Françoise Plantier, Valérie Cales, Vincent Pinsolle, Denis Roblet, Frantz Dupuy, Alexiane Dallot, Alice Seris, Thomas Jouary, Roland Houben, David Schrama, Sonja Hesbacher, Nicolas Macagno, Maxime Battistella, Bernard Cribier, Beatrice Vergier, Arnaud Fouchardière, and Marie‐Laure Jullie
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Pathology and Forensic Medicine - Published
- 2022
18. An update on cutaneous vascular tumours
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Agnes Pekar-Lukacs, Eduardo Calonje, and Zlatko Marušić
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Pathology ,medicine.medical_specialty ,Histology ,Vascular Tumors ,business.industry ,medicine ,Immunohistochemistry ,Angiosarcoma ,business ,World health ,Pathology and Forensic Medicine - Abstract
The classification of vascular lesions is complex. There is a slight overlap between reactive, developmental and benign vascular tumours, and some conditions defy precise classification. This review follows the most recent World Health Organization (WHO) classification of cutaneous vascular tumors and provides the framework for a systematic study, incorporating as many recent advances in molecular and immunohistochemical diagnostics as possible at this moment in time.
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- 2022
19. A hidden and rare variant of porokeratosis: A case report of porokeratosis ptychotropica and report of the literature
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Fiona Tasker, Fiona Lewis, Naomi Kemp, Eglantine Lebas, and Jaime Eduardo Calonje
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Biopsy ,Humans ,Buttocks ,Dermatology ,Porokeratosis - Published
- 2022
20. ESP, EORTC, and EURACAN Expert Opinion
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Willeke A. M. Blokx, Eduardo Calonje, Daniela Massi, Arnaud de la Fouchardière, Susana Puig, Sophie Piperno-Neumann, Llucia Alos, Boštjan Luzar, Euracan, and Léon C van Kempen
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0301 basic medicine ,medicine.medical_specialty ,integumentary system ,business.industry ,Melanoma ,Cell Biology ,General Medicine ,medicine.disease ,Somatic evolution in cancer ,Dermatology ,Pathology and Forensic Medicine ,03 medical and health sciences ,General pathology ,030104 developmental biology ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Expert opinion ,medicine ,Intermediate Grade ,Melanocytoma ,business ,Who classification ,Molecular Biology ,Pathological - Abstract
The recent WHO classification of skin tumors has underscored the importance of acknowledging intermediate grade melanocytic proliferations. A multistep acquisition of oncogenic events drives the progressive transformation of nevi into melanomas. The various pathways described are modulated by the initial oncogenic drivers that define the common, blue, and Spitz nevi groups. Intermediate lesions are most often the result of a clonal evolution within such nevi. Based on this established classification, we have suggested for each pathway a practical diagnostic approach, benefiting from the recently developed molecular tools, both in the setting of general pathology labs and expert centers. Moreover, recommendations regarding the re-excision and clinical follow-up are given to support decision-making in multidisciplinary tumor boards.
- Published
- 2021
21. Progressive atrophic indurated plaques in a 16‐year‐old boy
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W. Abdelrahman, A. Shahid, Eduardo Calonje, Kathryn Shepherd, E. Lebas, S. Baron, and Vinay Shivamurthy
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Male ,Leg ,Neoplasms, Connective Tissue ,medicine.medical_specialty ,Skin Neoplasms ,Adolescent ,business.industry ,Dermatology ,Fibroblasts ,Nevus, Spindle Cell ,medicine ,Humans ,Atrophy ,business - Published
- 2021
22. A rare mimic of basal cell carcinoma
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E. Kamp, E. Musbahi, Eduardo Calonje, A. Ascott, N. Nardini, G. Graham, and E. Topham
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Aged, 80 and over ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,business.industry ,Dermatology ,medicine.disease ,Diagnosis, Differential ,Carcinoma, Basal Cell ,Carcinoma, Squamous Cell ,medicine ,Carcinoma ,Humans ,Female ,Basal cell carcinoma ,business - Abstract
Lymphoepithelioma-like carcinoma of the skin is an extremely rare tumour whose aetiology is yet to be established. An 83-year-old female presented with a rapidly growing plaque on the chest wall diagnosed as lymphoepithelioma-like carcinoma histologically.
- Published
- 2021
23. Long-term management options for sea urchin injury: a case series
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Mariel James, Waseem Bakkour, Anna Checkley, Eduardo Calonje, and Stephen L. Walker
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Sea Urchins ,Animals ,Humans ,Dermatology ,Skin - Abstract
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. Surgical measures are often undertaken, particularly when retained spines are suspected. We demonstrate, through three cases presenting in the UK with chronic SUIs, that conservative management, surgery and intralesional corticosteroids may all be associated with satisfactory outcomes. Management options should consider the presence of retained spines, injury site, symptoms and importantly, patient preference.
- Published
- 2022
24. Eruptive naevi associated with encorafenib for metastatic colorectal cancer: two cases
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Yasmin Alfallouji, Ashley Spencer, Eduardo Calonje, Conal M. Perrett, Richard Watchorn, Catherine Borysiewicz, Tara Hodgkinson, Harpreet Wasan, Christopher B. Bunker, and Rachel U. Sidwell
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Dermatology - Abstract
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.
- Published
- 2022
25. Human Papillomavirus 42 Drives Digital Papillary Adenocarcinoma and Elicits a Germ Cell-like Program Conserved in HPV-Positive Cancers
- Author
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Lukas Leiendecker, Tobias Neumann, Pauline S. Jung, Shona M. Cronin, Thomas L. Steinacker, Alexander Schleiffer, Michael Schutzbier, Karl Mechtler, Thibault Kervarrec, Estelle Laurent, Kamel Bachiri, Etienne Coyaud, Rajmohan Murali, Klaus J. Busam, Babak Itzinger-Monshi, Reinhard Kirnbauer, Lorenzo Cerroni, Eduardo Calonje, Arno Rütten, Frank Stubenrauch, Klaus G. Griewank, Thomas Wiesner, and Anna C. Obenauf
- Subjects
Oncology ,Medizin - Abstract
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. We show that HPV42, so far considered a nononcogenic, “low-risk” HPV, recapitulates the molecular hallmarks of oncogenic, “high-risk” HPVs. Using machine learning, we find that HPV-driven transformation elicits a germ cell–like transcriptional program conserved throughout all HPV-driven cancers (DPA, cervical carcinoma, and head and neck cancer). We further show that this germ cell–like transcriptional program, even when reduced to the top two genes (CDKN2A and SYCP2), serves as a fingerprint of oncogenic HPVs with implications for early detection, diagnosis, and therapy of all HPV-driven cancers. Significance: We identify HPV42 as a uniform driver of DPA and add a new member to the short list of tumorigenic viruses in humans. We discover that all oncogenic HPVs evoke a germ cell–like transcriptional program with important implications for detecting, diagnosing, and treating all HPV-driven cancers. See related commentary by Starrett et al., p. 17. This article is highlighted in the In This Issue feature, p. 1
- Published
- 2022
26. Chronic lymphocytic leukaemia‐associated insect bite‐like reaction responding to ibrutinib, an immunomodulatory Bruton tyrosine kinase inhibitor
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P E M Patten, Eduardo Calonje, M Wimalachandra, Jon Salisbury, Tanya N Basu, and N Attard
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medicine.medical_specialty ,Lymphocytic leukaemia ,biology ,business.industry ,medicine.medical_treatment ,Chronic lymphocytic leukemia ,Dermatology ,medicine.disease ,Trunk ,030207 dermatology & venereal diseases ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,chemistry ,Topical clindamycin ,Lymecycline ,030220 oncology & carcinogenesis ,Ibrutinib ,biology.protein ,Medicine ,Bruton's tyrosine kinase ,business ,Watchful waiting ,medicine.drug - Abstract
A 57-year-old man, being managed with a watchful waiting strategy for Stage A chronic lymphocytic leukaemia (CLL), presented, eight years following diagnosis, with itchy spots involving the face, trunk and limbs (Figure 1a). Individual lesions came spontaneously and resolved completely over several weeks. Clinically, there were crops of 4 to 10 mm pruritic, acneiform papules that were not folliculocentric, some of which had a central area of erosion(Figure 1b). Despite trials of lymecycline, topical clindamycin and fucibet therapy, the striking skin eruption progressed in severity becoming widespread and complicated by recurrent secondary Staphylococcal abscesses and an episode of facial erysipelas.
- Published
- 2021
27. Nonhealing verrucous ulcer on the ear
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Eduardo Calonje, J Axford, F Lawlor, and Eugene Ong
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Adult ,Male ,medicine.medical_specialty ,business.industry ,MEDLINE ,Herpes Simplex ,Dermatology ,Text mining ,Skin Diseases, Viral ,Humans ,Medicine ,business ,Ear Auricle - Published
- 2020
28. Cutaneous intravascular epithelioid hemangioma. A clinicopathological and molecular study of 21 cases
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Lei Zhang, Boštjan Luzar, Eleni Ieremia, Cristina R. Antonescu, and Eduardo Calonje
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Adult ,Male ,0301 basic medicine ,CD31 ,Pathology ,medicine.medical_specialty ,Adolescent ,Article ,Pathology and Forensic Medicine ,Young Adult ,03 medical and health sciences ,Subcutaneous Tissue ,0302 clinical medicine ,medicine ,Atypia ,Humans ,Nuclear atypia ,Child ,Epithelioid Hemangioma ,Aged ,business.industry ,Angiolymphoid Hyperplasia with Eosinophilia ,Nodule (medicine) ,Middle Aged ,medicine.disease ,030104 developmental biology ,030220 oncology & carcinogenesis ,Immunohistochemistry ,Female ,Sarcoma ,medicine.symptom ,business ,FOSB - Abstract
Pure intravascular growth of epithelioid hemangioma (EH) is exceptional. Herein, we report a series of 21 intravascular EHs, representing a potential serious diagnostic pitfall by mimicking malignant vascular neoplsms with epithelioid morphology. The tumors developed in 12 males and 4 females, aged from 11 to 71 years (mean age 40.2 years) with a predilection for the extremities (13 of 21, 61.9%), followed by the head and neck (8 of 21, 38.1%). Lesions ranged in size from 2 to 30 mm (mean size 13 mm). The most common presenting feature was a slowly growing nodule. Most neoplasms were solitary (13 of 16 patients, 81.2%) but three patients developed more than one intravascular EH (3 of 16, 18.8%). Treatment consisted of complete surgical excision and was generally curative. Follow-up was available for 13 lesions that had developed in ten patients (range 4-72 months, mean 27.3 months). No recurrences or development of additional tumors were observed. All 21 lesions developed in subcutaneous veins. Two morphological patterns of intravascular epithelioid endothelial cell proliferation were observed: (1) a lobular capillary hemangioma-like proliferation with variable formation of open vascular lumina and (2) a solid proliferation generally lacking open vascular spaces. A lobular capillary hemangioma-like pattern was the sole pattern in nine lesions, a mixed lobular hemangioma-like pattern, and solid pattern in eight and a pure solid pattern in four intravascular EHs. Mitotic activity in epithelioid endothelial cells ranged from 0 to 7 mitoses per 10 high-power field (mean 2.1 mitoses per 10 HPFs). Six lesions displayed brisk mitotic activity of five or more mitoses per 10 HPF (6 of 21, 28.5%). The number of mitoses was usually more prominent in areas with solid growth. Atypical mitoses were not observed. No intratumoral necroses were seen. Cytological atypia was mild (20 out of 21 cases). By immunohistochemistry, all tumors were positive for CD31 (14 out of 14) and ERG (5 out of 5). While all tested cases were FOS negative by immunohistochemistry (6 out of 6), one out of six cases (case 6) displayed FOSB nuclear positivity in about 30% of the lesional endothelial cells. Eight cases were analysed by FISH for the presence of FOS and FOSB gene rearrangements. While all cases were negative for FOSB rearrangements, a single case proved positive for FOS gene break-apart. In conclusion, intravascular growth of EH is not associated with adverse biological behavior. Solid intravascular proliferations of endothelial cells can mimic a malignant vascular tumor with epithelioid morphology. Nevertheless, intravascular EHs display mild cytological atypia coupled with low mitotic activity, and a lack of atypical mitoses, pronounced nuclear atypia, multilayering or tumor necrosis. Finally, the FOS gene is infrequently rearranged, and there are no FOSB gene abnormalities in this subset of EHs, suggesting a potential distinct pathogenesis than most classic EHs.
- Published
- 2020
29. Mitotically Active Nevus and Nevoid Melanoma: A Clinicopathological and Molecular Study
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Jaime Eduardo Calonje, Nathan T. Harvey, Carla Thomas, Nima Mesbah Ardakani, Chris van Vliet, Shalinder Singh, and Benjamin A. Wood
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Adolescent ,DNA Copy Number Variations ,CDKN2A Gene ,Dermatology ,Pathology and Forensic Medicine ,Diagnosis, Differential ,Young Adult ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Older patients ,Mitotic Index ,medicine ,Humans ,Nevus ,Child ,Melanoma ,Cyclin-Dependent Kinase Inhibitor p16 ,In Situ Hybridization, Fluorescence ,Aged ,Chromosome Aberrations ,Comparative Genomic Hybridization ,business.industry ,Microscopic level ,General Medicine ,Middle Aged ,Melanocytic nevus ,medicine.disease ,Nevoid melanoma ,stomatognathic diseases ,Clinicopathological features ,Female ,business ,gp100 Melanoma Antigen - Abstract
The distinction between nevoid melanoma and a mitotically active nevus can be challenging at the microscopic level. In this study, we performed cytogenetic testing on a cohort of 25 mitotically active melanocytic proliferations resembling common melanocytic nevus from 25 patients. Based on cytogenetic findings, the lesions were classified as "nevoid melanoma" (n = 13) or "mitotically active nevus" (n = 12). Subsequently, we compared the clinicopathological features between these 2 groups. Nevoid melanomas occurred in older patients (P = 0.007); however, there were no significant differences in gender, size, or anatomical distribution between the 2 groups. Histologically, deep/marginal mitoses (P = 0.006), lack of maturation with depth (P = 0.036), and pseudo-maturation (P = 0.006) were significantly more common in nevoid melanomas. Immunohistochemically, complete loss of p16 was an important divisive feature (P = 0.0004), seen in 70% of nevoid melanomas, and highly correlated with loss of CDKN2A gene (chromosome 9p21). Our findings suggest that such reproducible immunomorphological differences can be of value in distinguishing nevoid melanoma from mitotically active nevus. Nevoid melanomas demonstrated a spectrum of chromosomal aberrations similar to those seen in common subtypes of melanoma, which can serve as a powerful adjunct diagnostic tool in morphologically challenging lesions.
- Published
- 2020
30. An overview of hair follicle tumours
- Author
-
Zlatko Marušić and Eduardo Calonje
- Subjects
0301 basic medicine ,Pathology ,medicine.medical_specialty ,Histology ,Biology ,Hair follicle ,Pathology and Forensic Medicine ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Follicular phase ,medicine - Abstract
Tumours derived from/differentiating towards the hair follicle are relatively rare and the nomenclature is somewhat confusing. A seemingly difficult task of classifying and stratifying various follicular tumours can be made easier by grouping various follicular tumours according to lines of differentiation pertaining to the specific anatomical compartments within the hair follicle. This review paper aims to improve the understanding of follicular tumours and provide several key points in order to facilitate their diagnosis.
- Published
- 2020
31. Epidermolysis bullosa acquisita: a case series of three paediatric patients
- Author
-
Maria Laura Bageta, Eliana Cella, Andrea Bettina Cervini, María Del Valle Centeno, Liliana Roquel, John B. Mee, Richard W. Groves, Eduardo Calonje, Richard G. Goodwin, Jemima E. Mellerio, Gabriela Petrof, and Anna E. Martinez
- Subjects
Humans ,Dermatology ,Epidermolysis Bullosa Acquisita ,Child ,Epidermolysis Bullosa - Abstract
Epidermolysis bullosa acquisita is a highly uncommon condition in the paediatric population. This article describes three children with this disease, different clinical presentation and management. It also reviews the most relevant articles on this topic.
- Published
- 2022
32. Skin adnexal tumours in a tertiary dermatopathology service
- Author
-
Eduardo Calonje and Z. Marušić
- Subjects
Service (business) ,medicine.medical_specialty ,Skin Neoplasms ,business.industry ,Adnexal tumours ,Humans ,Medicine ,Neoplasms, Adnexal and Skin Appendage ,Dermatology ,Dermatopathology ,business ,skin, tumor, adnexal, dermatopathology - Abstract
Linked Article: Cook et al. Br J Dermatol 2022; 186:167–173.
- Published
- 2022
33. Clinical, histopathological and prognostic features of primary cutaneous acral CD8
- Author
-
Werner, Kempf, Tony, Petrella, Rein, Willemze, Patty, Jansen, Emilio, Berti, Marco, Santucci, Eva, Geissinger, Lorenzo, Cerroni, Eve, Maubec, Maxime, Battistella, John, Goodlad, Emmanuella, Guenova, Katariina, Lappalainen, Annamari, Ranki, Paul, Craig, Eduardo, Calonje, Blanca, Martin, Sean, Whittaker, Ilske, Oschlies, Ulrike, Wehkamp, Jan P, Nicolay, Marion, Wobser, Julia, Scarisbruck, Nicola, Pimpinelli, Rudi, Stadler, Katrin, Kerl French, Pietro, Quaglino, Jinran, Lin, Lianjun, Chen, Michaela, Beer, Patrick, Emanuel, Stephane, Dalle, and Alistair, Robson
- Subjects
Skin Neoplasms ,Humans ,CD8-Positive T-Lymphocytes ,Prognosis ,Lymphoma, T-Cell, Cutaneous ,Retrospective Studies - Abstract
The differential diagnosis of atypical dermal nonepidermotropic CD8To assess the clinical, histological and immunophenotypic features; outcomes of; and differences between dermal CD8Retrospective analysis of a series of 46 patients and biopsies by the international EORTC Cutaneous Lymphoma Group.The dermal CD8A constellation of distinct clinical, histopathological and phenotypic features allows discrimination and assignment of dermal CD8
- Published
- 2021
34. Anogenital Crohn's Disease and Granulomatosis: A Systematic Review of Epidemiology, Clinical Manifestations, and Treatment
- Author
-
Sailish Honap, Susanna Meade, Ashley Spencer, Polychronis Pavlidis, Raphael P Luber, Eduardo Calonje, Ellie Rashidghamat, Christopher B Bunker, Fiona Lewis, and Peter M Irving
- Subjects
Adult ,Male ,Crohn Disease ,Gastroenterology ,Edema ,Humans ,Immunologic Factors ,Female ,Tumor Necrosis Factor Inhibitors ,General Medicine ,Prospective Studies ,Child - Abstract
Background and Aims Metastatic Crohn’s disease is an extraintestinal cutaneous manifestation characterised by non-specific inflammatory lesions anatomically separate from the gut; genital involvement is rare. We conducted a systematic review of anogenital Crohn’s disease and granulomatosis, to provide a synthesis of epidemiology, clinical features, and treatment outcomes. Methods A systematic search of the literature was conducted via MEDLINE, EMBASE, and the Cochrane database from inception to December 1, 2020. Two investigators extracted and analysed study data. Response and remission were defined as partial improvement or complete resolution of symptoms and examination findings, respectively. Results Of 9381 screened studies, 185 articles, [410 cases: 273 female, 137 male] were included. The predominant clinical features were oedema, ulcers, fissures, and hypertrophic lesions. Adults and children present similarly. Luminal Crohn’s disease was diagnosed in nearly 80% of cases including 45–80% patients without gastrointestinal symptoms (time to inflammatory bowel disease [IBD] from anogenital Crohn’s disease diagnosis [range] –43 to 11 years). Antibiotics, corticosteroids, thiopurines, and anti-tumour necrosis factor [TNF] therapy were the most frequently prescribed agents. At final follow-up, non-response, response, and remission rates were 37/304 [12%], 267/304 [88%], and 114/304 [38%], respectively. Oedema was associated with a poor response to topical therapy. Greater response rates to anti-TNF therapy were seen in patients prescribed concomitant immunomodulation [24/25, 96% vs 67/90, 74%, p = 0.02]. Conclusions We provide an illustrative summary of the clinical presentation and treatment effectiveness of this rare, under-recognised condition, and a proposed algorithm for approach and management. Prospective studies with longer follow-up are required to define optimal treatment strategies.
- Published
- 2021
35. An unusual case of scrotal plexiform hypomelanotic cellular blue naevus in a child
- Author
-
Eduardo Calonje, Cyril Fisher, Michael Ashworth, Neil J. Sebire, and Mohammad Haini
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Histology ,Unusual case ,business.industry ,Cellular blue naevus ,Dermatology ,eye diseases ,Pathology and Forensic Medicine ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,030220 oncology & carcinogenesis ,medicine ,Scrotal swelling ,business - Abstract
Amelanotic/hypomelanotic variant of cellular blue naevus (CBN) can present a challenge for the clinician and histopathologist. We report a case of amelanotic/hypomelanotic variant of CBN that presented as a painless scrotal swelling in a child. We review the literature on amelanotic/hypomelanotic CBN, the key histological features and important differential diagnoses.
- Published
- 2020
36. Cutaneous malignant glomus tumours: applicability of currently established malignancy criteria for tumours occurring in the skin
- Author
-
Eduardo Calonje, Boštjan Luzar, Cyril Fisher, and Blanca Martin
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Multivariate analysis ,Adolescent ,Disease ,Malignancy ,Pathology and Forensic Medicine ,Young Adult ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Medicine ,Nuclear atypia ,Grading (tumors) ,Aged ,Univariate analysis ,business.industry ,Clinical course ,Soft tissue ,Middle Aged ,Glomus Tumor ,medicine.disease ,030220 oncology & carcinogenesis ,Female ,business - Abstract
Summary Glomus tumours (GTs) have traditionally been classified into benign GTs, GTs with uncertain malignant potential and malignant GTs, based on a combination of criteria such as size of the tumour, degree of nuclear atypia and the level of mitotic activity. Several of the proposed grading criteria are difficult, or even impossible to apply for GTs occurring in the skin. The aim of the study was to analyse the applicability of the currently established GT malignancy criteria for tumours occurring in the skin and to establish their prognostic significance. A total of 25 benign cutaneous GTs, 11 new cutaneous malignant GTs and 36 cutaneous malignant GTs previously published in the literature were studied. We analysed the following clinicopathological features and correlated them with disease outcome: age, sex, site, size, depth of invasion, degree of nuclear atypia, mitotic activity, growth pattern, vascular invasion, spindle-cell morphology and tumoural necrosis. Of all the clinicopathological parameters analysed, only tumoural necrosis was found by univariate analysis (p = 0.001) to be associated with adverse biological behaviour, and none by multivariate analysis. Multivariate statistical analysis failed to detect any clinicopathological features predictive of the disease outcome (e.g., local recurrence, development of metastatic spread and/or death of disease) in cutaneous malignant GTs. Furthermore, the currently established malignancy criteria for cutaneous GTs can be difficult to apply, mainly due to their smaller size. Likewise, counting mitotic activity per 50 high power fields can often not be accomplished in GTs occurring at superficial locations. Complete excision of these tumours coupled with long-term follow-up is the mainstay of treatment for cutaneous malignant GTs. The results of our study also suggest that cutaneous malignant GTs follow a more indolent clinical course than their deep soft tissue counterparts.
- Published
- 2018
37. Dermal hyperneury
- Author
-
Zlatko Marušić, Lea Korša, and Eduardo Calonje
- Subjects
Neuroma ,Skin Neoplasms ,Multiple Endocrine Neoplasia ,Humans ,dermal ,hyperneury ,Dermatology ,Hamartoma Syndrome, Multiple - Abstract
Dermal hyperneury (DN) is a rarely reported form of small nerve hypertrophy characterized by an exaggerated size and prominence of dermal nerve fibers. Clinically, it can present with or without visible lesions, within a syndrome or sporadically, and in solitary or multiple fashion. The syndromes most commonly associated with DN include multiple endocrine neoplasia 2B and 2A, neurofibromatosis type II, and Cowden syndrome. Patients with syndrome-associated DN have an increased risk for various malignancies. Sporadic DN has been reported either in association with cutaneous tumors/reactive lesions, such as nodular prurigo, or in idiopathic form, where it can present with multiple DN lesions. There is a morphologic overlap between mucocutaneous neuromas and DN, as the former can have the appearance of either bulkier circumscribed lesions or tortuous and hyperplastic nerves more akin to DN. Epithelial sheath neuroma also shares a similar appearance to DN, from which it can be distinguished by a squamoid-appearing and thickened perineurium.
- Published
- 2021
38. Merkel cell polyomavirus‒negative Merkel cell carcinoma originating from in situ squamous cell carcinoma: a keratinocytic tumor with neuroendocrine differentiation
- Author
-
Mahtab Samimi, Charline Nardin, Bhavishya Sarma, Yannick Le Corre, Astrid Blom, Eduardo Calonje, Eva-Maria Sarosi, Monica Dinulescu, Serge Guyétant, Guido Bens, Patricia Berthon, Soumanth Thanguturi, Roland Houben, Marion Wobser, Thibault Kervarrec, David Schrama, Ágnes Pekár-Lukacs, François Aubin, Antoine Touzé, Marie-Laure Jullie, Silke Appenzeller, Nathalie Benethon, Anne Tallet, Ewa Hainaut-Wierzbicka, Service de Pathologie [CHRU Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Infectiologie et Santé Publique (UMR ISP), Université de Tours (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Department of Dermatology, Venerology and Allergology, Universitätsklinikum Würzburg, Comprehensive Cancer Center Mainfranken, University Hospital of Würzburg, Service de dermatologie (CHRU de Tours), Département de dermatologie [CHU Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Département de Dermatologie [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de dermatologie [CH Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Service de Dermatologie [Orléans], Centre Hospitalier Régional d'Orléans (CHRO), Département de dermatologie, Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Hôpital Saint-Jacques-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de Dermatologie [Rennes] = Dermatology [Rennes], CHU Pontchaillou [Rennes], Department of Oncology and Pathology [Lund], Lund University [Lund], St. John's Institute of Dermatology, King‘s College London, CHU Trousseau [Tours], Fondation ARC pour la recherche contre le cancer, Interdisziplinäres Zentrum für Klinische Forschung Würzburg (IZKF B-343), German Research Foundation (SCHR 1178/3-1), Ligue Nationale Contre le Cancer, Comités 16, 18, 28,HUGO Grant, Hôpital Ambroise Paré [AP-HP], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Hôpital Saint-Jacques-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), and Université de Tours-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)
- Subjects
Skin Neoplasms ,Merkel cell polyomavirus ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,Dermatology ,Biology ,medicine.disease_cause ,Biochemistry ,Neuroendocrine differentiation ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Copy-number variation ,Epigenetics ,Molecular Biology ,030304 developmental biology ,0303 health sciences ,Transition (genetics) ,Merkel cell carcinoma ,food and beverages ,Cell Biology ,medicine.disease ,biology.organism_classification ,3. Good health ,Carcinoma, Merkel Cell ,stomatognathic diseases ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,[SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology ,Carcinoma, Squamous Cell ,Cancer research ,Merkel cell ,Carcinogenesis ,Carcinoma in Situ - Abstract
International audience; While virus-negative Merkel cell carcinoma (MCC) is characterized by high frequency of UV-induced mutations, expression of two viral oncoproteins is regarded as key mechanism driving Merkel cell polyomavirus (MCPyV)-positive MCC. The cells in which these molecular events initiate MCC oncogenesis have yet not been identified for both MCC subsets. A considerable proportion of virus-negative MCC is found in association with squamous cell carcinoma (SCC) suggesting (i) coincidental collision, (ii) one providing a niche for the other or (iii) one evolving from the other. Whole exome sequencing of four combined tumors consisting of SCC in situ and MCPyV-negative MCC demonstrated in all cases many mutations shared between SCC and MCC indicating a common ancestry and thereby a keratinocytic origin of these MCCs. Moreover, analyses of the combined cases as well as of pure SCC and MCC suggests that RB1 inactivation in SCC facilitates MCC development and that epigenetic changes may contribute to the SCC/MCC transition.
- Published
- 2021
39. Generalized Progressive Papulonodular Skin Lesions in a 37-Year-Old Man: Answer
- Author
-
Khaled Murshed, Eugene Ong, Hala AlHomsi, Mahir Petkar, Lajos Szabados, Eduardo Calonje, and Mohamed Ben-Gashir
- Subjects
Dermatology ,General Medicine ,Pathology and Forensic Medicine - Published
- 2020
40. An intractable under-recognized anogenitogluteal rash
- Author
-
Asif Muneer, Eduardo Calonje, Christopher B Bunker, E. L. H. Ong, W. Bakkour, and Jonathan Barker
- Subjects
Adult ,Male ,medicine.medical_specialty ,business.industry ,Anal Canal ,Dermatology ,Exanthema ,Rash ,Porokeratosis ,Medicine ,Buttocks ,Humans ,medicine.symptom ,business ,Penis - Published
- 2020
41. An unusual nodule in a patient with Kaposi sarcoma
- Author
-
Belinda M. Martin, Eduardo Calonje, E. L. H. Ong, A. Paolino, S. Morris, and Vieri Grandi
- Subjects
Aged, 80 and over ,Male ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,business.industry ,Nodule (medicine) ,Dermatology ,medicine.disease ,Text mining ,medicine ,Humans ,Sarcoma ,medicine.symptom ,business ,Sarcoma, Kaposi - Published
- 2020
42. Generalized Progressive Papulonodular Skin Lesions in a 37-Year-Old Man: Challenge
- Author
-
Hala AlHomsi, Eduardo Calonje, Eugene Ong, Lajos Szabados, Mahir Petkar, Mohamed Ben-Gashir, and Khaled Murshed
- Subjects
medicine.medical_specialty ,business.industry ,medicine ,Dermatology ,General Medicine ,Skin lesion ,business ,Pathology and Forensic Medicine - Published
- 2020
43. ESP, EORTC, and EURACAN Expert Opinion: practical recommendations for the pathological diagnosis and clinical management of intermediate melanocytic tumors and rare related melanoma variants
- Author
-
Arnaud, de la Fouchardiere, Willeke, Blokx, Léon C, van Kempen, Boštjan, Luzar, Sophie, Piperno-Neumann, Susana, Puig, Llucia, Alos, Eduardo, Calonje, and Daniela, Massi
- Subjects
Adult ,Male ,Nevus, Pigmented ,Skin Neoplasms ,Clinical Decision-Making ,Infant ,Middle Aged ,Decision Support Techniques ,Phenotype ,Molecular Diagnostic Techniques ,Predictive Value of Tests ,Biomarkers, Tumor ,Humans ,Melanocytes ,Female ,Genetic Predisposition to Disease ,Neoplasm Grading ,Melanoma ,Cell Proliferation - Abstract
The recent WHO classification of skin tumors has underscored the importance of acknowledging intermediate grade melanocytic proliferations. A multistep acquisition of oncogenic events drives the progressive transformation of nevi into melanomas. The various pathways described are modulated by the initial oncogenic drivers that define the common, blue, and Spitz nevi groups. Intermediate lesions are most often the result of a clonal evolution within such nevi. Based on this established classification, we have suggested for each pathway a practical diagnostic approach, benefiting from the recently developed molecular tools, both in the setting of general pathology labs and expert centers. Moreover, recommendations regarding the re-excision and clinical follow-up are given to support decision-making in multidisciplinary tumor boards.
- Published
- 2020
44. Coinheritance of naevoid basal cell carcinoma syndrome and neurofibromatosis type 1 associated with an exceptional spectrum of tumours
- Author
-
Eduardo Calonje, Paul Brennan, Neil Rajan, S.J. Ghadiri, and Andrew J. Carmichael
- Subjects
0303 health sciences ,Naevoid basal cell carcinoma syndrome ,Pathology ,medicine.medical_specialty ,Neurofibromatosis 1 ,Skin Neoplasms ,business.industry ,030305 genetics & heredity ,Basal Cell Nevus Syndrome ,Dermatology ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,Carcinoma, Basal Cell ,030220 oncology & carcinogenesis ,Medicine ,Humans ,Neurofibromatosis ,business - Published
- 2020
45. Morphologically high-grade microcystic adnexal carcinoma: a report of two cases
- Author
-
Katharina Wiedemeyer, Eduardo Calonje, and Thomas Brenn
- Subjects
0301 basic medicine ,Pathology ,medicine.medical_specialty ,Histology ,Skin Neoplasms ,Pathology and Forensic Medicine ,03 medical and health sciences ,0302 clinical medicine ,Dermis ,medicine ,Carcinoma ,Atypia ,Neoplasm ,Humans ,Keratocyst ,Microcystic adnexal carcinoma ,Aged ,Aged, 80 and over ,business.industry ,General Medicine ,medicine.disease ,030104 developmental biology ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Female ,Neoplasms, Adnexal and Skin Appendage ,medicine.symptom ,business ,Duct (anatomy) ,Adnexal Carcinoma - Abstract
Aims Microcystic adnexal carcinoma is a distinctive sweat duct carcinoma of low-grade malignant potential with a risk for locally destructive growth and local recurrence. Distant metastases and disease-related mortality are exceptional. The histological hallmarks of these tumours are the diffusely infiltrative growth within the dermis, the frequent invasion of subcutaneous structures, the presence of perineurial invasion, and the bland cytological features. The tumours are organised in cords and strands, and show keratocyst formation and duct differentiation in varying proportions. Marked cytological atypia, nuclear pleomorphism, brisk and atypical mitotic activity and necrosis are not typically seen in these tumours. Methods and results We report two patients presenting with large, slowly growing tumours on the face showing areas of morphologically high-grade carcinoma arising on a background of unequivocal microcystic adnexal carcinoma. Both patients are alive with follow-up of up to 6 years, with no evidence of disease. Conclusions Morphologically high-grade transformation in microcytic adnexal carcinoma is a rare phenomenon that does not appear to confer a risk for aggressive behaviour. Recognition depends on sampling of the areas of conventional microcystic adnexal carcinoma.
- Published
- 2020
46. Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas
- Author
-
Eduardo Calonje, Hsin Yu Huang, Chavalit Supsrisunjai, Roberto A. Steiner, Magdalene Michael, Hsing San Yang, John A. McGrath, Chao Kai Hsu, Ofer Sarig, Robert A. S. Ariëns, Eli Sprecher, Michael A. Simpson, Maddy Parsons, Thitiwat Chaikul, Cédric Duval, Curt P. Samlaska, John Y.W. Lee, M. Eskin-Schwartz, and Alexandros Onoufriadis
- Subjects
0301 basic medicine ,Male ,Protein Conformation, alpha-Helical ,Benign Fibrous ,Tissue transglutaminase ,Protein Conformation ,Integrin alpha4 ,DNA Mutational Analysis ,Inheritance Patterns ,Biochemistry ,Whole Exome Sequencing ,0302 clinical medicine ,Catalytic Domain ,Missense mutation ,Site-Directed ,Exome sequencing ,Skin ,Histiocytoma ,Factor XIII ,Recombinant Proteins ,Pedigree ,030220 oncology & carcinogenesis ,Female ,Type I collagen ,medicine.drug ,Integrin ,Mutation, Missense ,Dermatology ,Biology ,Collagen Type I ,03 medical and health sciences ,Structure-Activity Relationship ,Exome Sequencing ,medicine ,Humans ,Molecular Biology ,Allele frequency ,Cell Proliferation ,Fibrin ,Histiocytoma, Benign Fibrous ,alpha-Helical ,Wild type ,Cell Biology ,Fibroblasts ,Molecular biology ,030104 developmental biology ,HEK293 Cells ,Mutagenesis, Site-Directed ,Protein Conformation, beta-Strand ,Mutagenesis ,Mutation ,biology.protein ,beta-Strand ,Missense - Abstract
Dermatofibromas are common benign skin lesions, the etiology of which is poorly understood. We identified two unrelated pedigrees in which there was autosomal dominant transmission of multiple dermatofibromas. Whole exome sequencing revealed a rare shared heterozygous missense variant in the F13A1 gene encoding factor XIII subunit A (FXIII-A), a transglutaminase involved in hemostasis, wound healing, tumor growth, and apoptosis. The variant (p.Lys679Met) has an allele frequency of 0.0002 and is predicted to be a damaging mutation. Recombinant human Lys679Met FXIII-A demonstrated reduced fibrin crosslinking activity in vitro. Of note, the treatment of fibroblasts with media containing Lys679Met FXIII-A led to enhanced adhesion, proliferation, and type I collagen synthesis. Immunostaining revealed co-localization between FXIII-A and α4β1 integrins, more prominently for Lys679Met FXIII-A than the wild type. In addition, both the α4β1 inhibitors and the mutation of the FXIII-A Isoleucine-Leucine-Aspartate-Threonine (ILDT) motif prevented Lys679Met FXIII-A-dependent proliferation and collagen synthesis of fibroblasts. Our data suggest that the Lys679Met mutation may lead to a conformational change in the FXIII-A protein that enhances α4-integrin binding and provides insight into an unexpected role for FXIII-A in the pathobiology of familial dermatofibroma.
- Published
- 2020
47. Tumors of vascular origin
- Author
-
Eduardo Calonje, Boštjan Luzar, and Alexander J. Lazar
- Subjects
business.industry ,Medicine ,business - Published
- 2020
48. Fibroblastic and myofibroblastic tumors of the skin
- Author
-
Alexander J. Lazar, Eduardo Calonje, and Boštjan Luzar
- Subjects
Pathology ,medicine.medical_specialty ,business.industry ,Myofibroblastic tumors ,medicine ,business - Published
- 2020
49. Miscellaneous Tumors of Uncertain Differentiation
- Author
-
Eduardo Calonje, Alexander J. Lazar, and Boštjan Luzar
- Subjects
Pathology ,medicine.medical_specialty ,MISCELLANEOUS TUMORS ,business.industry ,medicine ,business - Published
- 2020
50. Adipocytic tumors
- Author
-
Eduardo Calonje, Alexander J. Lazar, and Boštjan Luzar
- Published
- 2020
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