المؤلفون: Kervarrec, Thibault, Westphal, Danna, Pissaloux, Daniel, Legrand, Mélanie, Tirode, Franck, Neuhart, Anne, Drouot, Francoise, Becker, Jürgen C, Macagno, Nicolas, Seris, Alice, Jouary, Thomas, Beltzung, Fanny, Jullie, Marie‐Laure, Harms, Paul W, Cribier, Bernard, Mourah, Samia, Jouenne, Fanélie, Fromont, Gaelle, Louveau, Baptiste, Mancini, Maxence, Kazakov, Dmitry V, de la Fouchardière, Arnaud, Battistella, Maxime

المساهمون: Société Française de Dermatologie et de Pathologie Sexuellement Transmissible

المصدر: Histopathology ; ISSN 0309-0167 1365-2559

الوصف: Aims Porocarcinoma is a malignant sweat gland tumour differentiated toward the upper part of the sweat duct and may arise from the transformation of a preexisting benign poroma. In 2019, Sekine et al. demonstrated the presence of YAP1::MAML2 and YAP1::NUTM1 fusions in most poromas and porocarcinomas. Recently, our group identified PAK2‐ fusions in a subset of benign poromas. Herein we report a series of 12 porocarcinoma cases harbouring PAK1/2/3 fusions. Methods and Results Five patients were male and the median age was 79 years (ranges: 59–95). Tumours were located on the trunk ( n = 7), on the thigh ( n = 3), neck ( n = 1), or groin area ( n = 1). Four patients developed distant metastases. Microscopically, seven cases harboured a benign poroma component and a malignant invasive part. Ductal formations were observed in all, while infundibular/horn cysts and cells with vacuolated cytoplasm were detected in seven and six tumours, respectively. In three cases, the invasive component consisted of a proliferation of elongated cells, some of which formed pseudovascular spaces, whereas the others harboured a predominant solid or trabecular growth pattern. Immunohistochemical staining for CEA and EMA confirmed the presence of ducts. Focal androgen receptor expression was detected in three specimens. Whole RNA sequencing evidenced LAMTOR1::PAK1 ( n = 2), ZDHHC5::PAK1 ( n = 2), DLG1::PAK2 , CTDSP1::PAK1 , CTNND1::PAK1 , SSR1::PAK3 , CTNNA1::PAK2 , RNF13::PAK2 , ROBO1::PAK2, and CD47::PAK2 . Activating mutation of HRAS (G13V, n = 3, G13R, n = 1, Q61L, n = 2) was present in six cases. Conclusion Our study suggests that PAK1/2/3 fusions is the oncogenic driver of a subset of porocarcinomas lacking YAP1 rearrangement.

الإتاحة: https://doi.org/10.1111/his.15214Test

المؤلفون: Alsugair, Ziyad, Neuhart, Anne, Benzerdjeb, Nazim, Champagnac, Anne, Pissaloux, Daniel, Baltres, Aline

المصدر: International Journal of Surgery Case Reports ; volume 118, page 109611 ; ISSN 2210-2612

مصطلحات موضوعية: Surgery

الإتاحة: https://doi.org/10.1016/j.ijscr.2024.109611Test
https://api.elsevier.com/content/article/PII:S2210261224003924?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2210261224003924?httpAccept=text/plainTest

المؤلفون: Kervarrec, Thibault, Frouin, Eric, Collin, Christine, Tallet, Anne, Tallegas, Matthias, Pissaloux, Daniel, Tirode, Franck, Guyétant, Serge, Samimi, Mahtab, Gaboriaud, Pauline, Touzé, Antoine, Schrama, David, Houben, Roland, Tabareau‐delalande, Flore, Neuhart, Anne, de la Fouchardière, Arnaud, Osio, Amélie, Cavelier-Balloy, Bénédicte, Laurent‐roussel, Sara, Sohier, Pierre, Cyprien, Tilmant, Balme, Brigitte, Belzung, Fanny, Jullie, Marie‐laure, Cribier, Bernard, Battistella, Maxime, Macagno, Nicolas

المساهمون: 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), Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Centre Léon Bérard Lyon, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard Lyon -Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University Hospital of Würzburg, Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Dermatopathologie de la Roquette, UFR Médecine Santé - Université Paris Cité (UFR Médecine UPCité), Université Paris Cité (UPCité), Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL), Département de Pathologie CHU Lyon-Sud - HCL, Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), CHU Bordeaux, Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital de la Timone CHU - APHM (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 0309-0167.

مصطلحات موضوعية: Merkel, Rb-deficient squamous cell carcinoma, YAP1, porocarcinoma, poroma, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology

الوصف: International audience ; Aims: Recently, YAP1 fusion genes have been demonstrated in eccrine poroma and porocarcinoma, and the diagnostic use of YAP1 immunohistochemistry has been highlighted in this setting. In other organs, loss of YAP1 expression can reflect YAP1 rearrangement or transcriptional repression, notably through RB1 inactivation. In this context, our objective was to re-evaluate the performance of YAP1 immunohistochemistry for the diagnosis of poroma and porocarcinoma.Methods and results: The expression of the C-terminal part of the YAP1 protein was evaluated by immunohistochemistry in 543 cutaneous epithelial tumours, including 27 poromas, 14 porocarcinomas and 502 other cutaneous tumours. Tumours that showed a lack of expression of YAP1 were further investigated for Rb by immunohistochemistry and for fusion transcripts by real-time PCR (YAP1::MAML2 and YAP1::NUTM1). The absence of YAP1 expression was observed in 24 cases of poroma (89%), 10 porocarcinoma (72%), 162 Merkel cell carcinoma (98%), 14 squamous cell carcinoma (SCC) (15%), one trichoblastoma and one sebaceoma. Fusions of YAP1 were detected in only 16 cases of poroma (n = 66%), 10 porocarcinoma (71%) all lacking YAP1 expression, and in one sebaceoma. The loss of Rb expression was detected in all cases except one of YAP1-deficient SCC (n = 14), such tumours showing significant morphological overlap with porocarcinoma. In-vitro experiments in HaCat cells showed that RB1 knockdown resulted in repression of YAP1 protein expression.Conclusion: In addition to gene fusion, we report that transcriptional repression of YAP1 can be observed in skin tumours with RB1 inactivation, including MCC and a subset of SCC.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36720791; hal-04077169; https://hal.inrae.fr/hal-04077169Test; https://hal.inrae.fr/hal-04077169/documentTest; https://hal.inrae.fr/hal-04077169/file/2023_Kervarrec_Histopathol_vol-82.pdfTest; PUBMED: 36720791; WOS: 000935265400001

الإتاحة: https://doi.org/10.1111/his.14874Test
https://hal.inrae.fr/hal-04077169Test
https://hal.inrae.fr/hal-04077169/documentTest
https://hal.inrae.fr/hal-04077169/file/2023_Kervarrec_Histopathol_vol-82.pdfTest

المؤلفون: Belkaïd, Samy, Crumbach, Laura, de Bernardi, Axel, Darnis, Sophie, Bouquerel, Margot, Neuhart, Anne, Assaad, Souad, Amini-Adle, Mona

المصدر: The Lancet Oncology ; volume 25, issue 4, page e173 ; ISSN 1470-2045

مصطلحات موضوعية: Oncology

الإتاحة: https://doi.org/10.1016/s1470-2045Test(24)00105-0
https://api.elsevier.com/content/article/PII:S1470204524001050?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1470204524001050?httpAccept=text/plainTest

المؤلفون: Schoelinck, Jérémy, Neuhart, Anne, Amini-Adle, Mona, Frobert, Paul, Saizonou, Inès, de la Fouchardière, Arnaud

المصدر: Pathology ; volume 55, issue 7, page 1031-1032 ; ISSN 0031-3025

مصطلحات موضوعية: Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.pathol.2023.05.015Test
https://api.elsevier.com/content/article/PII:S0031302523001782?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0031302523001782?httpAccept=text/plainTest

المؤلفون: Favier, Rémi, Roussel, Xavier, Audia, Sylvain, Bordet, Jean Claude, De Maistre, Emmanuel, Hirsch, Pierre, Neuhart, Anne, Bedgedjian, Isabelle, Gkalea, Vasiliki, Favier, Marie, Daguindau, Etienne, Nurden, Paquita, Deconinck, Eric

المصدر: Platelets ; volume 31, issue 4, page 536-540 ; ISSN 0953-7104 1369-1635

الإتاحة: https://doi.org/10.1080/09537104.2019.1663809Test

المؤلفون: Favier, Rémi, Roussel, Xavier, Audia, Sylvain, Bordet, Jean Claude, De Maistre, Emmanuel, Hirsch, Pierre, Neuhart, Anne, Bedgedjian, Isabelle, Gkalea, Vasiliki, Favier, Marie, Daguindau, Etienne, Nurden, Paquita, Deconinck, Eric

المصدر: Platelets; 2020, Vol. 31 Issue 4, p536-540, 5p

مصطلحات موضوعية: STEM cell transplantation, MYELOFIBROSIS, GRAFT versus host disease, RED blood cell transfusion, BLOOD platelets, HEMATOPOIETIC stem cells

مستخلص: Gray platelet syndrome (GPS) is an inherited disorder. Patients harboring GPS have thrombocytopenia with large platelets lacking α-granules. A long-term complication is myelofibrosis with pancytopenia. Hematopoietic stem cell transplant (HSCT) could be a curative treatment. We report a male GPS patient with severe pancytopenia, splenomegaly and a secondary myelofibrosis needing red blood cells transfusion. He received an HSCT from a 10/10 matched HLA-unrelated donor after a myeloablative conditioning regimen. Transfusion independence occurred at day+21, with a documented neutrophil engraftment. At day+ 180, we added ruxolitinib to cyclosporine and steroids for a moderate chronic graft versus host disease (GVHD) and persistent splenomegaly. At day+240 GVHD was controlled and splenomegaly reduced. Complete donor chimesrism was documented in blood and marrow and platelets functions and morphology normalized. At day+ 720, the spleen size normalized and there was no evidence of marrow fibrosis on the biopsy. In GPS, HSCT may be a curative treatment in selected patients with pancytopenia and myelofibrosis. [ABSTRACT FROM AUTHOR]

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