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Emmanuelle Ranza Anne Guimier Alain Verloes Yline Capri Charles Marques Martine Auclair Michèle Mathieu-Dramard Gilles Morin Julien Thevenon Laurence Faivre Christel Thauvin-Robinet A. Micheil Innes David A. Dyment Corinne Vigouroux Jeanne Amiel 《Clinical genetics》2020,98(1):10-18
Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome (NS) with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in NS and remains the more prevalent. We report seven patients from three families presenting heterozygous missense variants in PTPN11 probably responsible for a disease phenotype distinct from the classical Noonan syndrome. The clinical presentation and common features of these seven cases overlap with the SHORT syndrome. The latter is the consequence of PI3K/AKT signaling deregulation with the predominant disease-causing gene being PIK3R1. Our data suggest that the phenotypic spectrum associated with pathogenic variants of PTPN11 could be wider than previously described, and this could be due to the dual activity of SHP2 (ie, PTPN11 gene product) on the RAS/MAPK and PI3K/AKT signaling. 相似文献
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Thomas Wirth MD MSc Louise Laure Mariani MD PhD Gaber Bergant MD Michel Baulac MD PhD Marie-Odile Habert MD Nathalie Drouot MSc Emmanuelle Ollivier MSc Alenka Hodžić PhD Gorazd Rudolf MD Patrick Nitschke MSc Gabrielle Rudolf PhD Jamel Chelly MD PhD Christine Tranchant MD PhD Mathieu Anheim MD PhD Emmanuel Roze MD PhD 《Movement disorders》2020,35(5):880-885
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Marina Díaz-Beyá Myriam Labopin Johan Maertens Mahmoud Alijurf Jakob Passweg Beelen Dietrich Harry Schouten Gerard Socié Nicolaas Schaap Rainer Schwerdtfeger Liisa Volin Mauricette Michallet Emmanuelle Polge Jorge Sierra Mohamad Mohty Jordi Esteve Arnon Nagler the Acute Leukaemia Working Party of the European Society for Blood Marrow Transplantation 《British journal of haematology》2020,189(5):920-925
Acute myeloid leukaemia (AML) with t(6;9)(p23;q34) is a poor-risk entity, commonly associated with FLT3-ITD (internal tandem duplication). Allogeneic stem-cell tranplantation (allo-SCT) is recommended, although studies analysing the outcome of allo-SCT in this setting are lacking. We selected 195 patients with t(6;9) AML, who received a first allo-SCT between 2000 and 2016 from the EBMT (European Society for Blood and Marrow Transplantation) registry. Disease status at time of allo-SCT was the strongest independent prognostic factor, with a two-year leukaemia-free survival and relapse incidence of 57% and 19% in patients in CR1 (first complete remission), 34% and 33% in CR2 (second complete remission), and 24% and 49% in patients not in remission, respectively (P < 0·001). This study, which represents the largest one available in t(6;9) AML, supports the recommendation to submit these patients to allo-SCT in CR1. 相似文献
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