Article
Oncology
F. Janku, S. Bauer, K. Shoumariyeh, R. L. Jones, A. Spreafico, J. Jennings, C. Psoinos, J. Meade, R. Ruiz-Soto, P. Chi
Summary: This study demonstrates the efficacy and safety of Ripretinib in patients with KIT-altered metastatic melanoma. The drug shows promising results and may play a meaningful role in treating these patients.
Article
Biochemistry & Molecular Biology
Lisa Elefanti, Carolina Zamuner, Paolo Del Fiore, Camilla Stagni, Stefania Pellegrini, Luigi Dall'Olmo, Alessio Fabozzi, Rebecca Senetta, Simone Ribero, Roberto Salmaso, Simone Mocellin, Franco Bassetto, Francesco Cavallin, Anna Lisa Tosi, Francesca Galuppini, Angelo Paolo Dei Tos, Chiara Menin, Rocco Cappellesso
Summary: Acral melanoma is a rare and aggressive subtype of melanoma, unrelated to UV radiation, with low mutation burden but frequent chromosomal rearrangements and gene amplifications. The most commonly mutated genes are BRAF, NRAS, and TP53, with some genetic alterations associated with histologic prognostic features.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Oncology
Theresa Steeb, Anja Wessely, Anne Petzold, Christoph Kohl, Michael Erdmann, Carola Berking, Markus V. Heppt
Summary: The study summarized the efficacy and safety of c-Kit inhibitors for unresectable or metastatic mucosal, acral or chronically sun-damaged melanoma. Results showed that c-Kit inhibitors are a valuable treatment option for patients with KIT mutant melanoma, with nilotinib having the highest objective response rate.
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Oncology
Vincenzo De Giorgi, Elisabetta Magnaterra, Biancamaria Zuccaro, Serena Magi, Manfredi Magliulo, Matelda Medri, Laura Mazzoni, Federico Venturi, Flavia Silvestri, Gian Marco Tomassini, Massimo Gola, Marta Tramontana, Samantha Berti, Ignazio Stanganelli, Luca Stingeni, Piero Covarelli
Summary: The clinical and epidemiological features, dermoscopic findings, and clinical course of pediatric melanoma have not been well identified. Management of pediatric melanoma is currently based on adult guidelines, as specific treatment recommendations for children are unavailable. 65% of pediatric melanomas analyzed presented at least two dermoscopic criteria of melanoma, suggesting that this could be a key for the dermoscopic diagnosis of suspected pediatric melanoma, even in this age group.
Article
Oncology
Orsolya Pipek, Laura Vizkeleti, Viktoria Doma, Donat Alpar, Csaba Bödör, Sarolta Karpati, Jozsef Timar
Summary: Malignant melanoma of the skin, primarily on UV-exposed skin, is commonly associated with mutant BRAF, RAS, and KIT oncogenes. The genetic makeup of triple-wild-type melanoma (BRAF, NRAS, and NF1) has been studied before, but with mixed rare and common histopathological subtypes. In this study, whole genome sequencing was used to characterize triple-wild-type melanoma, excluding rare histopathological subtypes. Unrecognized drivers were identified among passenger mutations in some cases.
Article
Dermatology
J. Kim, H. Choi
Summary: The study found that several mucin proteins are expressed in human skin cells, among which MUCL1 has the highest expression and a clear negative correlation with melanin production in epidermal melanocytes. The research revealed a novel mechanism of mucin regulation with diagnostic and preventive roles of MUCL1 in cutaneous melanoma, suggesting an association between MUCL1, threonine, melanogenesis, and metastasis-related genes in melanoma cells.
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Review
Genetics & Heredity
Olivia Beaudoux, Jean-Baptiste Oudart, Laurence Riffaud, Laetitia Visseaux, Aude Marchal, Anne-Sophie Lebre, Florent Grange
Summary: This article systematically reviews molecular studies of primary mucosal melanomas (PMMs) to elucidate their pathogenesis and potential therapeutic targets. The study identified significantly mutated genes, including BRAF, NRAS, and KIT, as well as others that may be associated with future targeted therapies.
MOLECULAR DIAGNOSIS & THERAPY
(2022)
Article
Genetics & Heredity
Amelia K. Smit, Martin Allen, Brooke Beswick, Phyllis Butow, Hugh Dawkins, Suzanne J. Dobbinson, Kate L. Dunlop, David Espinoza, Georgina Fenton, Peter A. Kanetsky, Louise Keogh, Michael G. Kimlin, Judy Kirk, Matthew H. Law, Serigne Lo, Cynthia Low, Graham J. Mann, Gillian Reyes-Marcelino, Rachael L. Morton, Ainsley J. Newson, Jacqueline Savard, Lyndal Trevena, Sarah Wordsworth, Anne E. Cust
Summary: The study found that personalized genomic risk information did not influence sun exposure patterns, but it did improve some skin cancer prevention and early detection behaviors, reducing the risk of sunburn and increasing skin examinations among women. There was also a reduction in melanoma-related worry, without evidence of psychological harm overall.
GENETICS IN MEDICINE
(2021)
Article
Oncology
Melissa M. de Meza, Rawa K. Ismail, Daan Rauwerdink, Olivier J. van Not, Jesper van Breeschoten, Willeke A. M. Blokx, Anthonius de Boer, Maaike van Dartel, Doranne L. Hilarius, Eva Ellebaek, Han J. Bonenkamp, Christian U. Blank, Maureen J. B. Aarts, Alexander C. J. van Akkooi, Franchette W. P. J. van den Berkmortel, Marye J. Boers-Sonderen, Jan Willem B. de Groot, John B. Haanen, Geke A. P. Hospers, Ellen W. Kapiteijn, Djura Piersma, Roos S. van Rijn, Astrid A. M. van der Veldt, Art Vreugdenhil, Hans M. Westgeest, Alfons J. M. van den Eertwegh, Karijn P. M. Suijkerbuijk, Michel W. J. M. Wouters
Summary: This study aimed to describe treatment patterns, relapse, and toxicity rates of adjuvant-treated melanoma patients outside the clinical trial setting. Results showed higher toxicity rates and more frequent premature discontinuations in daily practice compared to trials, but similar recurrence-free survival rates.
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Oncology
Craig L. Slingluff, Karl D. Lewis, Robert Andtbacka, John Hyngstrom, Mohammed Milhem, Svetomir N. Markovic, Tawnya Bowles, Omid Hamid, Leonel Hernandez-Aya, Joel Claveau, Sekwon Jang, Prejesh Philips, Shernan G. Holtan, Montaser F. Shaheen, Brendan Curti, William Schmidt, Marcus O. Butler, Juan Paramo, Jose Lutzky, Arvinda Padmanabhan, Sajeve Thomas, Daniel Milton, Andrew Pecora, Takami Sato, Eddy Hsueh, Suprith Badarinath, John Keech, Sujith Kalmadi, Pallavi Kumar, Robert Weber, Edward Levine, Adam Berger, Anna Bar, J. Thaddeus Beck, Jeffrey B. Travers, Catalin Mihalcioiu, Brian Gastman, Peter Beitsch, Suthee Rapisuwon, John Glaspy, Edward C. McCarron, Vinay Gupta, Deepti Behl, Brent Blumenstein, Joanna J. Peterkin
Summary: The study evaluated the efficacy of Seviprotimut-L, a vaccine containing human melanoma antigens, in early-stage melanoma patients. Results showed that the impact of Seviprotimut-L on recurrence-free survival varied among different stage patients, with the most significant effect observed in patients in the IIB/IIC stage, especially among younger patients and those with ulcerated melanomas.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2021)
Article
Hematology
Anne Beatrice Notarantonio, Maud D'aveni-Piney, Simona Pagliuca, Yayha Ashraf, Jacques-Emanuel Galimard, Alienor Xhaard, Ambroise Marcais, Felipe Suarez, Eolia Brissot, Pierre Feugier, Saik Urien, Naim Bouazza, Sebastien Jacquelin, Tchao Meatchi, Patrick Bruneval, Veronique Fremeaux-Bacchi, Regis Peffault De Latour, Olivier Hermine, Marie Agnes Durey-Dragon, Marie-Therese Rubio
Summary: Complement activation through the classical/lectin pathway after myeloablative conditioning regimens in allogeneic hematopoietic cell transplantation is associated with increased non-relapse mortality, poorer overall survival, and various complications. The deposition of complement components on endothelial cells in gastrointestinal graft-versus-host disease lesions correlates with the severity of the disease.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Oncology
Jose Maria Piulats, Enrique Espinosa, Luis de la Cruz-Merino, Mar Varela, Lorenzo Alonso Carrion, Salvador Martin-Algarra, Rafael Lopez Castro, Teresa Curiel, Delvys Rodriguez-Abreu, Miriam Redrado, Montserrat Goma, Antonio Jose Rullan, Alfonso Calvo Gonzalez, Alfonso Berrocal-Jaime
Summary: The combination of nivolumab and ipilimumab as first-line therapy for metastatic uveal melanoma patients showed a modest improvement in 12-month overall survival, with manageable toxicity profile.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Oncology
Judicael Hotton, Emilie Bogart, Marie-Cecile Le Deley, Eric Lambaudie, Fabrice Narducci, Frederic Marchal
Summary: Robot-assisted laparoscopy (RAL) reduces surgeons' workloads and improves comfort during surgery compared to standard laparoscopy (SL).
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Genetics & Heredity
Camille Vermersch, Olivia Boccara, Christine Chiaverini, Juliette Mazereeuw-Hautier, Nina Sigg, Stephanie Mallet, Pierre Vabres, Denis Herbreteau, Anne Le Touze, Annabel Maruani, Sophie Leducq
Summary: Health care transition in rare chronic skin diseases presents challenges, with a high rate of lost to follow-up. Early management may be associated with lower lost to follow-up rates. Patients reported overall satisfaction with care but noted a lack of psychological support. Further studies are needed to explore risk factors for unsuccessful health care transition and its implications.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Oncology
Roger Olofsson Bagge, Axel Nelson, Amir Shafazand, Charlotta All-Eriksson, Christian Cahlin, Nils Elander, Hildur Helgadottir, Jens Folke Kiilgaard, Sara Kinhult, Ingrid Ljuslinder, Jan Mattsson, Magnus Rizell, Malin Sternby Eilard, Gustav J. Ullenhag, Jonas A. Nilsson, Lars Ny, Per Lindner
Summary: This study aimed to evaluate the efficacy and safety of isolated hepatic perfusion (IHP) compared to best alternative care in uveal melanoma. The results showed that IHP treatment resulted in superior overall response rate, hepatic progression-free survival (hPFS), and progression-free survival (PFS) compared to best alternative care in uveal melanoma patients. In terms of safety, the IHP group had 11 treatment-related serious adverse events compared to 7 in the control group.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Caroline Robert, Celeste Lebbe, Thierry Lesimple, Eija Lundstrom, Valerie Nicolas, Bruno Gavillet, Philippa Crompton, Barouyr Baroudjian, Emilie Routier, Ferdy J. Lejeune
Summary: This study evaluated the safety and efficacy of combined treatment with GnRH agonist triptorelin and nivolumab in male melanoma patients resistant to anti-PD-1. The results showed that this combination therapy effectively controlled the disease, with a disease control rate of 42.8% according to RECIST criteria. However, evidence for thymus rejuvenation was limited.
CLINICAL CANCER RESEARCH
(2023)
Article
Dermatology
Anne Welfringer-Morin, Marion Barroil, Sylvie Fraitag, Vanessa Szablewski, Olivia Boccara, Jean-Philippe Lacoure, Christine Christine, Martine Bagot, Caroline Ram-Wolff, Marie-Dominique Vignon-Pennamen, Stephane Dalle, Michel D'incan, Florent Amatore, Marie Beylot-Barry, Beatric Vergier, Juliette Mazereeuw-Hautier, Billal Tedbirt, Gaelle Quereux, Olivier Carpentier, Francois Skowron, Yves Bertrand, Pascal Van Eeckhout, Valerie Dekeuleneer, Charlee Nardinu, Henri Adamski, Saskia Ingen-Housz-Oro, Olivier Dereure, Christine Bodemer
Summary: This study retrospectively analyzed the clinical, histological characteristics, and disease outcome of childhood mycosis fungoides (MF) patients. The results showed that most patients were in stage I MF with a high frequency of hypopigmented and folliculotropic lesions, and a significant presence of CD8+ immunophenotype. Treatment options included wait-and-see, skin-directed, and systemic treatments, with a good clinical response observed in the majority of patients, although some experienced relapse after initial response. The long-term prognosis was generally indolent, but a small portion of patients may have persistent MF into adulthood.
Article
Cell Biology
Thibault Kervarrec, Eric Frouin, Christine Collin, Anne Tallet, Matthias Tallegas, Daniel Pissaloux, Franck Tirode, Serge Guyetant, Mahtab Samimi, Pauline Gaboriaud, Antoine Touze, David Schrama, Roland Houben, Flore Tabareau-Delalande, Anne Neuhart, Arnaud de la Fouchardiere, Amelie Osio, Benedicte Cavelier-Balloy, Sara Laurent-Roussel, Pierre Sohier, Tilmant Cyprien, Brigitte Balme, Fanny Belzung, Marie-Laure Jullie, Bernard Cribier, Maxime Battistella, Nicolas Macagno
Summary: Recent research has shown the presence of YAP1 fusion genes in eccrine poroma and porocarcinoma. The use of YAP1 immunohistochemistry for diagnosis has been emphasized. The study aimed to evaluate the performance of YAP1 immunohistochemistry in the diagnosis of these tumors. The results showed that YAP1 expression was lost in a significant number of cases, and inactivation of RB1 was associated with transcriptional repression of YAP1.
Article
Dermatology
Chloe Grolleau, Andreea Calugareanu, Sarah Demouche, Audrey Nosbaum, Delphine Staumont-Salle, Helene Aubert, Charles Cassius, Marie Jachiet, Anne Saussine, Martine Bagot, Herve Bachelez, Maxime Battistella, Claire Hotz, Aurelie Du Thanh, Marie-Noelle Crepy, David Bergerat, Marine Merandet, Rachel Onifarasoaniaina, Antonio Alberdi, Alexandre How-Kit, Jean-David Bouaziz, Helene Le-Buanec
Summary: Dupilumab, a therapeutic antibody targeting IL-4 and IL-13 receptor subunit alpha, has been used for treating atopic dermatitis (AD). Recent reports have shown cases of psoriasis-like reactions induced by dupilumab treatment for AD. The pathogenesis of dupilumab-induced psoriatic eruption (DI-Pso) involves a shift in skin immune responses from T helper 2 to IL-36 and T helper 17 polarization, as well as intensified skin barrier alterations.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Article
Dermatology
Van Anh Ta, Maxime Battistella, Lin Pierre Zhao, Gabor Dobos, Caroline Ram-Wolff, Isabelle Madelaine, Jean- Christophe Bories, Olivier Tournilhac, Jacques Rouanet, Richard Veyrat- Masson, Jean-David Bouaziz, Anne Marie-Cardine, Martine Bagot, Armand Bensussan, Helene Moins-Teisserenc, Adele De Masson
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Letter
Dermatology
Ingrid Lazaridou, Julien Calvani, Elissa Annabi, Helene Moins-Teisserenc, Van Anh Ta, Jacqueline Rivet, Caroline Ram-Wolff, Maelle Dumont, Thibault Mahevas, Marie-Dominique Vignon-Pennamen, Samia Mourah, Jean-David Bouaziz, Baptiste Louveau, Martine Bagot, Maxime Battistella, Adele de Masson
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Dermatology
Pietro Quaglino, Julia Scarisbrick, Gabriele Roccuzzo, Alejandra Abeldano, Maxime Battistella, Chris McCormack, Richard Cowan, Antonio Cozzio, Jade Cury-Martins, Paula Enz, Larisa Geskin, Emmanuella Guenova, Youn H. Kim, Robert Knobler, Ivan V. Litvinov, Tomomitsu Miyagaki, Montserrat Molgo, Jan Nicolay, Evangelina Papadavid, Lauren Pinter-Brown, Ramon Pujol Vallverdu, Christiane Querfeld, Pablo Ortiz-Romero, Rudolf Stadler, Maarten H. Vermeer, Martine Bagot, Emmilia Hodak
Summary: This study investigated the lack of consensus on the definition and classification of 'plaque' in mycosis fungoides. The results showed that total consensus and high agreement rates were achieved in a significant percentage of questions, but high divergence rates were also reported. Therefore, there is still a need for further research to achieve a consensus and improve the clinical definition of plaques.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Pathology
Benedicte Oules, Lydia Deschamps, Pierre Sohier, Matthieu Tihy, Anais Chassac, Anais Couvelard, Eric Frouin, Maxime Battistella
Summary: GATA6 immunostaining has been identified as a new diagnostic tool for sebaceous tumors, showing higher accuracy compared to other markers and being able to differentiate from non-sebaceous tumors. It also shows similar sensitivity to adipophilin and higher specificity, especially in clear-cell histology. Furthermore, GATA6 expression is found in skin metastases of gastrointestinal origin but not in metastases from breast or lung cancers.
Letter
Dermatology
Felix Pham, Stephane Dalle
Article
Oncology
Filippo de Braud, Christophe Dooms, Rebecca S. Heist, Celeste Lebbe, Martin Wermke, Anas Gazzah, Dirk Schadendorf, Piotr Rutkowski, Juergen Wolf, Paolo A. Ascierto, Ignacio Gil-Bazo, Shumei Kato, Maria Wolodarski, Meredith McKean, Eva Munoz Couselo, Martin Sebastian, Armando Santoro, Vesselina Cooke, Luca Manganelli, Kitty Wan, Anil Gaur, Jaeyeon Kim, Giordano Caponigro, Xuan-Mai Couillebault, Helen Evans, Catarina D. Campbell, Sumit Basu, Michele Moschetta, Adil Daud
Summary: This study explores a targeted therapy for treating NRAS-mutant melanoma, showing promising antitumor activity in patients with the use of LXH254 and trametinib in combination.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Reinhard Dummer, Pippa Corrie, Ralf Gutzmer, Tarek M. Meniawy, Michele Del Vecchio, Celeste Lebbe, Michele Guida, Caroline Dutriaux, Brigitte Dreno, Nicolas Meyer, Pier Francesco Ferrucci, Stephane Dalle, Muhammad Adnan Khattak, Jean-Jacques Grob, Karen Briscoe, James Larkin, Sandrine Mansard, Thierry Lesimple, Massimo Guidoboni, Silvia Sabatini, Erika Richtig, Rudolf Herbst, Maurice Lobo, Margarita Askelson, Paolo A. Ascierto, Michele Maio
Summary: The study aimed to evaluate the safety and efficacy of nivolumab plus ipilimumab followed by nivolumab monotherapy in patients with advanced melanoma. It found that the treatment was tolerable and had similar efficacy in all treated population with various subgroups, but reduced efficacy in patients with specific characteristics, indicating a need for novel treatment options.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Letter
Dermatology
Romain Stammler, Didier Bessis, Laurent Meunier, Nicolas Limal, Constance Guillaud, Matthieu Mahevas, Martine Bagot, Estelle Charvet, Charles Cassius, Maxime Battistella, Jean-David Bouaziz, Thibault Mahevas
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Letter
Dermatology
Melanie Legrand, Daniel Pissaloux, Franck Tirode, Anne Tallet, Christine Collin, Paul-Louis Chantreau, Patricia Berthon, Marie-Laure Jullie, Pierre Sohier, Eduardo Calonje, Bostjan Luzar, Isabelle Moulonguet, Keisuke Goto, Kristof Cokelaere, Laurence Lamant, Brigitte Balme, Lydia Deschamps, Nicolas Macagno, Bernard Cribier, Maxime Battistella, Arnaud de la Fouchardiere, Thibault Kervarrec
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Meeting Abstract
Medicine, Research & Experimental
Neval Ozkaya, Sarah Melloul Benizri, Laszlo Karai, Sylvie Fraitag, Stefania Pittaluga, Maxime Battistella, Svetlana Pack, Liqiang Xi, Anne Moreau, Zofia Helias-Rodzewicz, Ina Lee, Jean Donadieu, Julien Haroche, Mark Raffeld, Elaine Jaffe, Jean-Francois Emile
LABORATORY INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
Caleigh Mandel-Brehm, Sara E. Vazquez, Christopher Liverman, Mickie Cheng, Zoe Quandt, Andrew F. Kung, Audrey Parent, Brenda Miao, Emmanuel Disse, Christine Cugnet-Anceau, Stephane Dalle, Elizaveta Orlova, Elena Frolova, Diana Alba, Aaron Michels, Bergithe E. Oftedal, Michail S. Lionakis, Eystein S. Husebye, Anil K. Agarwal, Xilong Li, Chengsong Zhu, Quan Li, Elif Oral, Rebecca Brown, Mark S. Anderson, Abhinmanyu Garg, Joseph L. DeRisi
Summary: This study identified autoantibodies to PLIN1 in a murine model of APS1 and in patients with acquired lipodystrophy, indicating that PLIN1 autoantibodies may be markers of acquired autoimmune lipodystrophies.