Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Autor: Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, Szvetnik A, Noellke P, Dworzak M, Starý J, Locatelli F, Masetti R, Schmugge M, De Moerloose B, Català-Temprano A, Kállay K, Turkiewicz D, Hasle H, Buechner J, Jahnukainen K, Ussowicz M, Polychronopoulou S, Smith OP, Fabri O, Barzilai S, de Haas V, Baumann I, Schwarz-Furlan S, European Working Group of MDS in Children (EWOG-MDS), Niewisch MR, Sauer MG, Burkhardt B, Lang P, Bader P, Beier R, Müller I, Albert MH, Meisel R, Schulz A, Cario G, Panda PK, Wehrle J, Hirabayashi S, Derecka M, Durruthy-Durruthy R, Göhring G, Yoshimi-Noellke A, Ku M, Lebrecht D, Erlacher M, Flotho C, Strahm B, Niemeyer CM, Wlodarski MW

Publikováno v: NATURE MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Germline SAMD9 and SAMD9L mutations (SAMD9/9L(mut)) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::805cfb959fb8591155bb0950ac78d67f
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20180

Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescuing and cancer mutations.

Autor: Gutierrez-Rodrigues F; National Heart, Lung, and Blood Institute (NHLBI)/NIH, Bethesda, Maryland, United States., Groarke EM; National Heart, Lung and Blood Institute, Bethesda, Maryland, United States., Thongon N; The University of Texas MD Anderson Cancer Center, Houston, Texas, United States., Rodriguez-Sevilla JJ; The University of Texas MD Anderson Cancer Center, Houston, Texas, United States., Bazzo Catto LF; National Heart Lung and Blood Institute, Bethesda, Maryland, United States., Niewisch MR; Medizinische Hochschule Hannover, Hannover, Germany., Shalhoub RN; NIH, Vienna, Virginia, United States., McReynolds LJ; National Cancer Institute, Bethesda, Maryland, United States., Clé DV; University of Sao Paulo, Ribeirao Preto, Brazil., Patel BA; National Institute of Health, Bethesda, Maryland, United States., Ma X; Georgetown University, Washington, District of Columbia, United States., Hironaka D; National Heart, Lung, and Blood Institute (NHLBI)/NIH, Bethesda, Maryland, United States., Donaires FS; Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Brazil., Spitofsky NR; National Heart, Lung, and Blood Institute (NHLBI)/NIH, Bethesda, Maryland, United States., Santana BA; University of Sao Paulo, Ribeirao Preto, Brazil., Lai TP; Rutgers New Jersey Medical School, Newark, New Jersey, United States., Alemu L; NHLBI, Bethesda, United States., Kajigaya S; NIH, Bethesda, Maryland, United States., Darden I; National Institute of Health, Bethesda, Maryland, United States., Zhou W; NCI, Rockville, Maryland, United States., Browne PV; Department of Haematology, Trinity College Dublin, Dublin, Ireland, Dublin, Ireland., Paul S; NIAID/NIH, Bethesda, Maryland, United States., Lack J; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, United States., Young DJ; Translational Stem Cell Biology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, Bethesda, Maryland, United States., DiNardo CD; The University of Texas MD Anderson Cancer Center, Houston, Texas, United States., Aviv A; Rutgers New Jersey Medical School, Newark, New Jersey, United States., Ma F; The University of California, Los Angeles, Los Angeles, California, United States., Michels de Oliveira M; Universidade Federal do Parana, Curitiba, Brazil., Azambuja AP; Universidade Federal do Parana, Curitiba, Brazil., Dunbar CE; National Heart, Lung, and Blood Institute, Bethesda, Maryland, United States., Olszewska M; Icahn School of Medicine at Mount Sinai, New York, New York, United States., Olivier E; Icahn School of Medicine at Mount Sinai, New York, New York, United States., Papapetrou EP; Icahn School of Medicine at Mount Sinai, New York, New York, United States., Giri N; National Cancer Institute, NIH, Rockville, Maryland, United States., Alter BP; National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States., Bonfim CMS; Hospital Pequeno Principe/Pele Pequeno Príncipe Research Institute, Curitiba, Brazil., Wu CO; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA, Bethesda, Maryland, United States., Garcia-Manero G; The University of Texas MD Anderson Cancer Center, Houston, Texas, United States., Savage SA; National Cancer Institute, Bethesda, Maryland, United States., Young NS; NHLBI, NIH, Bethesda, Maryland, United States., Colla S; The University of Texas MD Anderson Cancer Center, Houston, Texas, United States., Calado RT; University of Sao Paulo, Ribeirao Preto, Brazil.

Publikováno v: Blood [Blood] 2024 Sep 24. Date of Electronic Publication: 2024 Sep 24.

Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.

Autor: Wang YM; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Kaj-Carbaidwala B; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Lurie Children's Hospital, Chicago, Illinois, USA., Lane A; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Agarwal S; Department of Pediatrics, Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts, USA., Beier F; Department of Hematology and Oncology, University Klinik Aachen, Aachen, Germany., Bertuch A; Department of Pediatric Hematology-Oncology, Texas Children's Hospital, Houston, Texas, USA., Borovsky KA; Department of Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas, USA., Brennan SK; Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Washington University in St. Louis, St. Louis, Missouri, USA., Calado RT; Department of Hematology and Oncology, University of Sao Paulo, Sao Paulo, Brazil., Catto LFB; Department of Hematology and Oncology, University of Sao Paulo, Sao Paulo, Brazil., Dufour C; Hematology Unit. IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ebens CL; Division of Pediatric Blood and Marrow Transplant & Cellular Therapy, University of Minnesota, Minneapolis, MN, USA., Fioredda F; Department of Hematology, Giannina Gaslini Institute, Genoa, Italy., Giri N; Department of Pediatrics, Clinical Genetics Branch, National Cancer Institute, Bethesda, Maryland, USA., Gloude N; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Rady Children's Hospital San Diego, San Diego, California, USA., Goldman F; Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Alabama Birmingham, Birmingham, Alabama, USA., Hertel PM; Department of Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas, USA., Himes R; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Ochsner Health, New Orleans, Louisiana, USA., Keel SB; Department of Hematology, University of Washington, Seattle, Washington, USA., Koura DT; Division of Hematology-Oncology and Bone Marrow Transplantation, Department of Medicine, University of California, San Diego, San Diego, California, USA., Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Kulkarni S; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Washington University in St. Louis, St. Louis, Missouri, USA., Liou I; Division of Gastroenterology, Department of Medicine, University of Washington, Seattle, Washington, USA., Nakano TA; Center for Cancer and Blood Disorders, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Nastasio S; Department of Gastroenterology/Hepatology, Boston Children's Hospital, Boston, Massachusetts, USA., Niewisch MR; Department of Hematology, Giannina Gaslini Institute, Genoa, Italy.; Division of Hematology-Oncology and Bone Marrow Transplantation, Department of Medicine, University of California, San Diego, San Diego, California, USA., Penrice DD; Department of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Sasa GS; Sarah Cannon Transplant and Cellular Therapy Network, San Antonio, Texas, USA., Savage SA; Department of Hematology, Giannina Gaslini Institute, Genoa, Italy., Simonetto DA; Department of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Ziegler DS; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Kensington, NSW, Australia.; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia., Miethke AG; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Myers KC; Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Publikováno v: Hepatology communications [Hepatol Commun] 2024 Jun 19; Vol. 8 (7). Date of Electronic Publication: 2024 Jun 19 (Print Publication: 2024).

Research on Rare Diseases in Germany - The cancer predisposition syndrome registry.

Autor: Dutzmann CM; Department of Pediatric Hematology and Oncology, Hannover Medical School., Palmaers NE; Department of Pediatric Hematology and Oncology, Hannover Medical School., Müntnich LJ; Department of Pediatric Hematology and Oncology, Hannover Medical School., Strüwe FJ; Department of Pediatric Hematology and Oncology, Hannover Medical School., Penkert J; Department of Pediatric Hematology and Oncology, Hannover Medical School., Sänger B; Department of Pediatric Hematology and Oncology, Hannover Medical School., Hoffmann B; Department of Pediatric Hematology and Oncology, Hannover Medical School., Karow A; Department of Pediatric Hematology and Oncology, Hannover Medical School., Reimer C; Department of Pediatric Hematology and Oncology, Hannover Medical School., Gerasimov T; Department of Pediatric Hematology and Oncology, Hannover Medical School., Niewisch MR; Department of Pediatric Hematology and Oncology, Hannover Medical School., Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School.

Publikováno v: Journal of health monitoring [J Health Monit] 2023 Dec 13; Vol. 8 (4), pp. 17-23. Date of Electronic Publication: 2023 Dec 13 (Print Publication: 2023).

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.

Autor: Vittal A; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Niewisch MR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA., Bhala S; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA., Kudaravalli P; Department of Internal Medicine, SUNY Upstate Medical University, Syracuse, New York, USA., Rahman F; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Hercun J; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Kleiner DE; Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland, USA., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA., Koh C; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: Hepatology (Baltimore, Md.) [Hepatology] 2023 Dec 01; Vol. 78 (6), pp. 1777-1787. Date of Electronic Publication: 2023 May 16.