{"entity": "researcher", "timestamp": "2026-08-07T18:32:29.586Z", "family": "Voso", "given": "Maria Teresa", "initials": "MT", "orcid": "0000-0002-6164-4761", "affiliations": [], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/54c19342a17e44249d7b4e4ae05d3e7a.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/54c19342a17e44249d7b4e4ae05d3e7a"}}, "publications": [{"entity": "publication", "iuid": "7368f002684f458b8856e07c2d6c9408", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7368f002684f458b8856e07c2d6c9408.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7368f002684f458b8856e07c2d6c9408"}}, "title": "Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy.", "authors": [{"family": "Voso", "given": "Maria-Teresa", "initials": "MT", "orcid": "0000-0002-6164-4761", "researcher": {"href": "https://publications.scilifelab.se/researcher/54c19342a17e44249d7b4e4ae05d3e7a.json"}}, {"family": "Pandzic", "given": "Tatjana", "initials": "T"}, {"family": "Falconi", "given": "Giulia", "initials": "G", "orcid": "0000-0001-7699-1427", "researcher": {"href": "https://publications.scilifelab.se/researcher/60c82def5f4b44b683081a00b2561795.json"}}, {"family": "Den\u010di\u0107-Fekete", "given": "Marija", "initials": "M"}, {"family": "De Bellis", "given": "Eleonora", "initials": "E"}, {"family": "Scarfo", "given": "Lydia", "initials": "L"}, {"family": "Ljungstr\u00f6m", "given": "Viktor", "initials": "V"}, {"family": "Iskas", "given": "Michail", "initials": "M"}, {"family": "Del Poeta", "given": "Giovanni", "initials": "G"}, {"family": "Ranghetti", "given": "Pamela", "initials": "P"}, {"family": "Laidou", "given": "Stamatia", "initials": "S"}, {"family": "Cristiano", "given": "Antonio", "initials": "A", "orcid": "0000-0001-7055-8577", "researcher": {"href": "https://publications.scilifelab.se/researcher/39724cb024bc454cb93672004976adf8.json"}}, {"family": "Plevova", "given": "Karla", "initials": "K"}, {"family": "Imbergamo", "given": "Silvia", "initials": "S"}, {"family": "Engvall", "given": "Marie", "initials": "M"}, {"family": "Zucchetto", "given": "Antonella", "initials": "A"}, {"family": "Salvetti", "given": "Chiara", "initials": "C"}, {"family": "Mauro", "given": "Francesca R", "initials": "FR", "orcid": "0000-0003-2425-9474", "researcher": {"href": "https://publications.scilifelab.se/researcher/caf70fdaaa53438c8e37018c3b3b9d2f.json"}}, {"family": "Stavroyianni", "given": "Niki", "initials": "N"}, {"family": "Cavelier", "given": "Lucia", "initials": "L"}, {"family": "Ghia", "given": "Paolo", "initials": "P"}, {"family": "Stamatopoulos", "given": "Kostas", "initials": "K"}, {"family": "Fabiani", "given": "Emiliano", "initials": "E", "orcid": "0000-0002-6209-8934", "researcher": {"href": "https://publications.scilifelab.se/researcher/8be5f1e2d63c411dafcf2c2e839fb80d.json"}}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications.scilifelab.se/researcher/17370bd509dc4b1081af5aed9e5117c7.json"}}], "type": "journal article", "published": "2022-07-00", "journal": {"title": "Br. J. Haematol.", "issn": "1365-2141", "volume": "198", "issue": "1", "pages": "103-113", "issn-l": "0007-1048"}, "abstract": "Clonal haematopoiesis of indeterminate potential (CHIP) may predispose for the development of therapy-related myeloid neoplasms (t-MN). Using target next-generation sequencing (t-NGS) panels and digital droplet polymerase chain reactions (ddPCR), we studied the myeloid gene mutation profiles of patients with chronic lymphocytic leukaemia (CLL) who developed a t-MN after treatment with chemo-(immuno)therapy. Using NGS, we detected a total of 30 pathogenic/likely pathogenic (P/LP) variants in 10 of 13 patients with a t-MN (77%, median number of variants for patient: 2, range 0-6). The prevalence of CHIP was then backtracked in paired samples taken at CLL diagnosis in eight of these patients. Six of them carried at least one CHIP-variant at the time of t-MN (median: 2, range: 1-5), and the same variants were present in the CLL sample in five cases. CHIP variants were present in 34 of 285 patients from a population-based CLL cohort, which translates into a significantly higher prevalence of CHIP in patients with a CLL who developed a t-MN, compared to the population-based cohort (5/8, 62.5% vs. 34/285, 12%, p = 0.0001). Our data show that CHIP may be considered as a novel parameter affecting treatment algorithms in patients with CLL, and highlight the potential of using chemo-free therapies in CHIP-positive cases.", "doi": "10.1111/bjh.18129", "pmid": "35277855", "labels": {"Clinical Genomics Uppsala": "Service", "Clinical Genomics": "Service"}, "xrefs": [], "notes": [], "created": "2022-11-28T12:42:03.124Z", "modified": "2022-11-28T12:42:03.291Z"}, {"entity": "publication", "iuid": "2c61a438d2924bd587d6cc6f0e3dcefe", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2c61a438d2924bd587d6cc6f0e3dcefe.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2c61a438d2924bd587d6cc6f0e3dcefe"}}, "title": "Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes.", "authors": [{"family": "Bernard", "given": "Elsa", "initials": "E", "orcid": "0000-0002-2057-7187", "researcher": {"href": "https://publications.scilifelab.se/researcher/9a8cab2a7d6b4f17893dddaee1638fb4.json"}}, {"family": "Nannya", "given": "Yasuhito", "initials": "Y"}, {"family": "Hasserjian", "given": "Robert P", "initials": "RP"}, {"family": "Devlin", "given": "Sean M", "initials": "SM"}, {"family": "Tuechler", "given": "Heinz", "initials": "H", "orcid": "0000-0002-1568-3436", "researcher": {"href": "https://publications.scilifelab.se/researcher/8aeeedfebec14b7c9af34915b5320432.json"}}, {"family": "Medina-Martinez", "given": "Juan S", "initials": "JS"}, {"family": "Yoshizato", "given": "Tetsuichi", "initials": "T", "orcid": "0000-0003-4283-2983", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6f499e339d2444b817a81ab2712b9e5.json"}}, {"family": "Shiozawa", "given": "Yusuke", "initials": "Y"}, {"family": "Saiki", "given": "Ryunosuke", "initials": "R"}, {"family": "Malcovati", "given": "Luca", "initials": "L"}, {"family": "Levine", "given": "Max F", "initials": "MF", "orcid": "0000-0001-5156-9086", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a65c2d5e4ea4c7fa4823821a995b0ec.json"}}, {"family": "Arango", "given": "Juan E", "initials": "JE"}, {"family": "Zhou", "given": "Yangyu", "initials": "Y"}, {"family": "Sol\u00e9", "given": "Francesc", "initials": "F"}, {"family": "Cargo", "given": "Catherine A", "initials": "CA"}, {"family": "Haase", "given": "Detlef", "initials": "D"}, {"family": "Creignou", "given": "Maria", "initials": "M"}, {"family": "Germing", "given": "Ulrich", "initials": "U"}, {"family": "Zhang", "given": "Yanming", "initials": "Y"}, {"family": "Gundem", "given": "Gunes", "initials": "G"}, {"family": "Sarian", "given": "Araxe", "initials": "A"}, {"family": "van de Loosdrecht", "given": "Arjan A", "initials": "AA"}, {"family": "J\u00e4dersten", "given": "Martin", "initials": "M"}, {"family": "Tobiasson", "given": "Magnus", "initials": "M"}, {"family": "Kosmider", "given": "Olivier", "initials": "O"}, {"family": "Follo", "given": "Matilde Y", "initials": "MY", "orcid": "0000-0001-6126-0859", "researcher": {"href": "https://publications.scilifelab.se/researcher/3cbe3a0c22f7454b87bcfa2737a9a2cc.json"}}, {"family": "Thol", "given": "Felicitas", "initials": "F"}, {"family": "Pinheiro", "given": "Ronald F", "initials": "RF"}, {"family": "Santini", "given": "Valeria", "initials": "V"}, {"family": "Kotsianidis", "given": "Ioannis", "initials": "I"}, {"family": "Boultwood", "given": "Jacqueline", "initials": "J", "orcid": "0000-0002-4330-2928", "researcher": {"href": "https://publications.scilifelab.se/researcher/389b184fad7048daaa8bd0466b298374.json"}}, {"family": "Santos", "given": "Fabio P S", "initials": "FPS"}, {"family": "Schanz", "given": "Julie", "initials": "J"}, {"family": "Kasahara", "given": "Senji", "initials": "S"}, {"family": "Ishikawa", "given": "Takayuki", "initials": "T"}, {"family": "Tsurumi", "given": "Hisashi", "initials": "H"}, {"family": "Takaori-Kondo", "given": "Akifumi", "initials": "A", "orcid": "0000-0001-7678-4284", "researcher": {"href": "https://publications.scilifelab.se/researcher/580e4d306fca4abeb09cea24b9fb381e.json"}}, {"family": "Kiguchi", "given": "Toru", "initials": "T"}, {"family": "Polprasert", "given": "Chantana", "initials": "C"}, {"family": "Bennett", "given": "John M", "initials": "JM"}, {"family": "Klimek", "given": "Virginia M", "initials": "VM"}, {"family": "Savona", "given": "Michael R", "initials": "MR", "orcid": "0000-0003-3763-5504", "researcher": {"href": "https://publications.scilifelab.se/researcher/50a3df7d0cee4ad484ba249dc87de866.json"}}, {"family": "Belickova", "given": "Monika", "initials": "M", "orcid": "0000-0002-9158-881X", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ff36ac18c71412b94d17252c44e70bd.json"}}, {"family": "Ganster", "given": "Christina", "initials": "C", "orcid": "0000-0002-7566-5985", "researcher": {"href": "https://publications.scilifelab.se/researcher/572629d9ced648fab310107d492fec38.json"}}, {"family": "Palomo", "given": "Laura", "initials": "L"}, {"family": "Sanz", "given": "Guillermo", "initials": "G", "orcid": "0000-0002-2767-8191", "researcher": {"href": "https://publications.scilifelab.se/researcher/df83862e8b6d43d7ae2707e28420218f.json"}}, {"family": "Ades", "given": "Lionel", "initials": "L"}, {"family": "Della Porta", "given": "Matteo Giovanni", "initials": "MG"}, {"family": "Elias", "given": "Harold K", "initials": "HK"}, {"family": "Smith", "given": "Alexandra G", "initials": "AG"}, {"family": "Werner", "given": "Yesenia", "initials": "Y"}, {"family": "Patel", "given": "Minal", "initials": "M"}, {"family": "Viale", "given": "Agn\u00e8s", "initials": "A"}, {"family": "Vanness", "given": "Katelynd", "initials": "K"}, {"family": "Neuberg", "given": "Donna S", "initials": "DS", "orcid": "0000-0003-2566-3145", "researcher": {"href": "https://publications.scilifelab.se/researcher/e2f9cbb622f040bebdfcb68657035be1.json"}}, {"family": "Stevenson", "given": "Kristen E", "initials": "KE"}, {"family": "Menghrajani", "given": "Kamal", "initials": "K"}, {"family": "Bolton", "given": "Kelly L", "initials": "KL"}, {"family": "Fenaux", "given": "Pierre", "initials": "P"}, {"family": "Pellagatti", "given": "Andrea", "initials": "A"}, {"family": "Platzbecker", "given": "Uwe", "initials": "U"}, {"family": "Heuser", "given": "Michael", "initials": "M", "orcid": "0000-0001-5318-9044", "researcher": {"href": "https://publications.scilifelab.se/researcher/fb00432d76f74293a5acdbc17a3f2305.json"}}, {"family": "Valent", "given": "Peter", "initials": "P"}, {"family": "Chiba", "given": "Shigeru", "initials": "S"}, {"family": "Miyazaki", "given": "Yasushi", "initials": "Y"}, {"family": "Finelli", "given": "Carlo", "initials": "C"}, {"family": "Voso", "given": "Maria Teresa", "initials": "MT", "orcid": "0000-0002-6164-4761", "researcher": {"href": "https://publications.scilifelab.se/researcher/54c19342a17e44249d7b4e4ae05d3e7a.json"}}, {"family": "Shih", "given": "Lee-Yung", "initials": "LY"}, {"family": "Fontenay", "given": "Michaela", "initials": "M", "orcid": "0000-0002-5492-6349", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a304a24a07e4f66b50eb9b3204d7eb4.json"}}, {"family": "Jansen", "given": "Joop H", "initials": "JH"}, {"family": "Cervera", "given": "Jos\u00e9", "initials": "J"}, {"family": "Atsuta", "given": "Yoshiko", "initials": "Y"}, {"family": "Gattermann", "given": "Norbert", "initials": "N"}, {"family": "Ebert", "given": "Benjamin L", "initials": "BL", "orcid": "0000-0003-0197-5451", "researcher": {"href": "https://publications.scilifelab.se/researcher/eeb0be1eb2be4bb48ec7f9dc17bd696f.json"}}, {"family": "Bejar", "given": "Rafael", "initials": "R", "orcid": "0000-0002-5603-4598", "researcher": {"href": "https://publications.scilifelab.se/researcher/33fcd878bc6e48e98950a35a0cebdbbb.json"}}, {"family": "Greenberg", "given": "Peter L", "initials": "PL"}, {"family": "Cazzola", "given": "Mario", "initials": "M", "orcid": "0000-0001-6984-8817", "researcher": {"href": "https://publications.scilifelab.se/researcher/e85ab5f89c604aad824a42107184f196.json"}}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E"}, {"family": "Ogawa", "given": "Seishi", "initials": "S", "orcid": "0000-0002-7778-5374", "researcher": {"href": "https://publications.scilifelab.se/researcher/fbcc3b1b5f3045a7acd123222445449d.json"}}, {"family": "Papaemmanuil", "given": "Elli", "initials": "E", "orcid": "0000-0003-1709-8983", "researcher": {"href": "https://publications.scilifelab.se/researcher/2f67e7f1297e472c8f31639c02d28905.json"}}], "type": "journal article", "published": "2020-10-00", "journal": {"title": "Nat. Med.", "issn": "1546-170X", "volume": "26", "issue": "10", "pages": "1549-1556", "issn-l": "1078-8956"}, "abstract": "Tumor protein p53 (TP53) is the most frequently mutated gene in cancer1,2. In patients with myelodysplastic syndromes (MDS), TP53 mutations are associated with high-risk disease3,4, rapid transformation to acute myeloid leukemia (AML)5, resistance to conventional therapies6-8 and dismal outcomes9. Consistent with the tumor-suppressive role of TP53, patients harbor both mono- and biallelic mutations10. However, the biological and clinical implications of TP53 allelic state have not been fully investigated in MDS or any other cancer type. We analyzed 3,324 patients with MDS for TP53 mutations and allelic imbalances and delineated two subsets of patients with distinct phenotypes and outcomes. One-third of TP53-mutated patients had monoallelic mutations whereas two-thirds had multiple hits (multi-hit) consistent with biallelic targeting. Established associations with complex karyotype, few co-occurring mutations, high-risk presentation and poor outcomes were specific to multi-hit patients only. TP53 multi-hit state predicted risk of death and leukemic transformation independently of the Revised International Prognostic Scoring System (IPSS-R)11. Surprisingly, monoallelic patients did not differ from TP53 wild-type patients in outcomes and response to therapy. This study shows that consideration of TP53 allelic state is critical for diagnostic and prognostic precision in MDS as well as in future correlative studies of treatment response.", "doi": "10.1038/s41591-020-1008-z", "pmid": "32747829", "labels": {"Clinical Genomics Uppsala": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41591-020-1008-z"}, {"db": "pmc", "key": "PMC8381722"}, {"db": "mid", "key": "NIHMS1715889"}], "notes": [], "created": "2020-12-10T14:46:50.666Z", "modified": "2021-11-10T12:46:47.582Z"}]}