Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
29 authors.
Bianca Tesi *Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0002-8253-2507
Anna Robelius *Department of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-8853-1863
Berivan BaskinDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0000-0001-5994-9868
Vladimir LazarevicDepartment of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Lund, Sweden.ORCID 0000-0002-1782-4423
Stefan DenebergDepartment of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0003-1888-5567
Martin HöglundDepartment of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden.ORCID 0000-0003-2468-0226
Linda FogelstrandDepartment of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0000-0003-3698-8519
Johanna UngerstedtDepartment of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-0202-7296
Tatjana PandzicDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0009-0006-9032-4616
Magnus TobiassonDepartment of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-3633-5852
Hege Gravdahl GareliusDepartment of Specialist Medicine, Section of Hematology and Coagulation, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0000-0003-2553-7659
Ekaterina KuchinskayaDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID 0009-0009-3347-6658
Fredrik PerssonDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0000-0002-5374-4770
Helena ÅgerstamDivision of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.ORCID 0009-0002-8216-3876
Helene HallböökDepartment of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-5764-3213
Thoas FioretosDivision of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.ORCID 0000-0002-3235-6154
Jessika NordinDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-8414-2190
Anna NorbergDepartment of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden.ORCID 0000-0003-2947-8879
Ann-Charlotte ThuressonDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-4018-5551
Sören LehmannDepartment of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0001-8374-8978
Claes LadenvallDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-7501-6598
Gisela BarbanyDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0003-3185-2962
Lovisa VennströmDepartment of Specialist Medicine, Section of Hematology and Coagulation, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID 0009-0002-7300-5438
Elisabeth EjerbladDepartment of Medical Sciences, Section of Hematology, Uppsala University, Uppsala, Sweden.ORCID 0009-0009-8190-1073
Lucia CavelierDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID 0009-0003-8195-370X
Jörg CammengaDepartment of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Lund, Sweden.ORCID 0009-0001-0668-607X
Martin JäderstenDepartment of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0001-5217-3235
Eva Hellström-LindbergDepartment of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-7839-3743
Panagiotis BaliakasDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-5634-7156
Funding
Barncancerfonden (Swedish Childhood Cancer Foundation) PR2020-0128Barncancerfonden (Swedish Childhood Cancer Foundation) PR2022-0135Cancerfonden (Swedish Cancer Society) 2022-1050146Cancerfonden (Swedish Cancer Society) 2023-1050180Center for Innovative Medicine (CIMED) FoUI-988468Center for Innovative Medicine (CIMED) FoUI-989107Region Uppsala ALF-1002575Region Uppsala ALF-990591Region Uppsala ALF-991381Stockholm läns landsting (Stockholm County Council) FoUI-985957Svenska Läkaresällskapet (SLS) SLS-961271Svenska Läkaresällskapet (SLS) SLS-973171Swedish Cancer Foundation 20 1105FkSwedish Cancer Foundation 21 1823 Pj-BF1Swedish Cancer Foundation 23 2745 PjSwedish Cancer Foundation 23 2976FkSwedish Cancer Foundation 24 0906 FKVleugels Stiftelse 2020-01
6 · The paper itself
Abstract
purposeIn a multicenter prospective cohort study, we assessed the diagnostic yield of the Nordic guidelines for germline investigation in myeloid neoplasms and mapped the spectrum of inherited and somatic variants. EXPERIMENTAL
designEighty-five patients (acute myeloid leukemia, n = 38; myelodysplastic syndromes, n = 26; thrombocytopenia, n = 14; and other, n = 7) fulfilling the Nordic criteria for germline investigation, based on (i) medical history or family history suggestive of a germline condition and (ii) relevant findings from the somatic diagnostic work-up (CytoMol), were recruited. The genetic analysis included enhanced whole-exome sequencing (n = 69) or sequencing of specific variants of interest (n = 16).
resultsPathogenic or likely pathogenic (P/LP) germline variants were identified in 35% of patients (30/85). The diagnostic yield varied from 6% (1/16) in the family history group to 52% (17/33) in the CytoMol group. Germline DDX41 P/LP variants were the most frequent finding (13/30, 43% of all positive cases) almost exclusively found within the CytoMol group (12/13). Seven variants of unknown significance were also detected (TERT n = 2 and DDX41, RTEL1, ETV6, PARN, and SAMD9 n = 1). Five patients carried a P/LP variant in genes associated with another hereditary cancer syndrome (BRCA1 n = 3; PALB2 n = 1; and CHEK2; n = 1). Survival analysis showed a trend for longer survival among patients with acute myeloid leukemia and confirmed or suspected germline predisposition that underwent allogeneic stem cell transplantation.
conclusionsThe implementation of the Nordic guidelines in a prospective Swedish cohort results in a high overall diagnostic yield (35%), proving the feasibility and utility of these or similar guidelines in a clinical setting.
Indexed as
Genetic Predisposition to DiseaseGerm-Line MutationLeukemia, Myeloid, AcuteMyelodysplastic SyndromesPractice Guidelines as TopicAdultAgedAged, 80 and overBiomarkers, TumorCohort StudiesExome SequencingFemaleGenetic TestingHumansMaleMiddle AgedBiomarkers, Tumor
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.
Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study. · full record | Socratic