{"entity": "journal", "iuid": "939ccb0d3f3540c2b6bdd3ccf976cc06", "timestamp": "2026-09-26T22:58:03.265Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/journal/EJHaem.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/journal/EJHaem"}}, "title": "EJHaem", "issn": "2688-6146", "issn-l": null, "publications_count": 3, "publications": [{"entity": "publication", "iuid": "9c468d0039cc47e39c3580502d2175e2", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9c468d0039cc47e39c3580502d2175e2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9c468d0039cc47e39c3580502d2175e2"}}, "title": "Low Rate of Germline Investigation for Variants of Suspected Germline Origin Detected During the Diagnostic Work-Up of Myeloid Neoplasms.", "authors": [{"family": "Al-Djaber", "given": "Ahmed", "initials": "A"}, {"family": "Munters", "given": "Arielle", "initials": "A"}, {"family": "Cammenga", "given": "J\u00f6rg", "initials": "J"}, {"family": "Pandzic", "given": "Tatjana", "initials": "T"}, {"family": "Amini", "given": "Rose-Marie", "initials": "RM"}, {"family": "Ladenvall", "given": "Claes", "initials": "C"}, {"family": "Olsen", "given": "Thale Kristin", "initials": "TK"}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P"}], "type": "journal article", "published": "2025-12-00", "journal": {"title": "EJHaem", "issn": "2688-6146", "volume": "6", "issue": "6", "pages": "e70206", "issn-l": null}, "abstract": "Genomic profiling of patients with myeloid neoplasms (MN) may detect variants with high variant allele frequency (VAF), indicating potential germline origin. All current guidelines recommend further investigation of such variants.\n\nTo define the proportion of variants with suspected germline origin that prompted germline investigation in patients evaluated for MN in the clinical setting.\n\nWe included 738 patients investigated for MN in Mid-Sweden between May 2020 and January 2023 with available sequencing data in genes of interest (GOI) according to the Nordic and other international guidelines.\n\nIn total, 90 patients (12%) carried pathogenic/likely pathogenic (P/LP) variants in GOI according to the Nordic guidelines, with TP53, RUNX1, and NRAS being the most common (n = 37, n = 27, and n = 9, respectively). The potential germline origin was investigated in 16/90 (18%) patients. Two patients (2/16, 12.5%) with germline variants were identified (DDX41 and RUNX1, n = 1, respectively). In patients treated with allogeneic stem-cells transplantation (n = 15) the investigation rate was higher (7/15, 47%, p < 0.005) compared to the non-transplanted ones. Applying the European Leukemia Net (ELN) guidelines the number of patients with variants in GOI increased up to 177 mainly due to the inclusion of TET2, while application of other international guidelines leads to similar results with the Nordic ones.\n\nWe report a low investigation rate for variants of suspected germline origin detected during the genomic profiling of patients investigated for MN in the clinical setting. Our study underscores the need for further awareness regarding germline investigation for hematological malignancies. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.", "doi": "10.1002/jha2.70206", "pmid": "41409737", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12707176"}, {"db": "pii", "key": "JHA270206"}], "notes": [], "created": "2026-09-23T15:56:12.878Z", "modified": "2026-09-23T15:56:12.901Z"}, {"entity": "publication", "iuid": "b63ad80c437b4d479f80be11664d1733", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b63ad80c437b4d479f80be11664d1733.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b63ad80c437b4d479f80be11664d1733"}}, "title": "Dihydroorotate dehydrogenase inhibition acts synergistically with tyrosine kinase inhibitors to induce apoptosis of mantle cell lymphoma cells.", "authors": [{"family": "Eriksen-Gjerstad", "given": "May", "initials": "M"}, {"family": "Tveit Karlsen", "given": "Ida", "initials": "I"}, {"family": "Fandalyuk", "given": "Zinayida", "initials": "Z"}, {"family": "Benjaminsen", "given": "Susanne", "initials": "S"}, {"family": "Baran-Marszak", "given": "Fanny", "initials": "F"}, {"family": "Papp", "given": "Bela", "initials": "B"}, {"family": "Locke", "given": "Frederick", "initials": "F"}, {"family": "Ladds", "given": "Marcus", "initials": "M"}, {"family": "Pastor-Fern\u00e1ndez", "given": "Andr\u00e9s", "initials": "A"}, {"family": "Gelebart", "given": "Pascal", "initials": "P", "orcid": "0000-0003-2434-8987", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/67a456015ad64a38a0a9fda2327dae86.json"}}, {"family": "Mc Cormack", "given": "Emmet", "initials": "E"}], "type": "journal article", "published": "2022-08-00", "journal": {"title": "EJHaem", "issn": "2688-6146", "volume": "3", "issue": "3", "pages": "913-918", "issn-l": null}, "abstract": "Mantle cell lymphoma (MCL) is a non-Hodgkin lymphoma that remains incurable with the treatment options available today. In the present study, we have identified the dihydroorotate dehydrogenase (DHODH), an essential enzyme for the de novo biosynthesis of pyrimidine-based nucleotides, to be overexpressed in MCL in comparison to healthy peripheral blood mononuclear cells (PBMC). In vitro inhibition of the DHODH activity using a newly developed DHODH inhibitor, namely (R)-HZ05, can induce MCL cell death in the nanomolar range independently than the P53 status of the investigated cell lines. Moreover, the combination of (R)-HZ05 with tyrosine kinase inhibitor shows the synergistic activity on cell death. Pre-clinical investigation on the efficacy of (R)-HZ05 shows that it can be prolonged animal lifespan similar to ibrutinib. (R)-HZ05 use in combination with tyrosine kinase inhibitor demonstrated a superior efficacy on tumor burden reduction and survival than either drug alone. We have demonstrated that the depletion of the pyrimidine nucleotide pool, using DHODH inhibitor, represents a new therapeutic strategy that may benefit MCL patients.", "doi": "10.1002/jha2.434", "pmid": "36051066", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9422018"}, {"db": "pii", "key": "JHA2434"}], "notes": [], "created": "2026-09-23T13:09:34.870Z", "modified": "2026-09-23T13:09:34.981Z"}, {"entity": "publication", "iuid": "a03ab346ad434508a31d8b362dc8a6bf", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a03ab346ad434508a31d8b362dc8a6bf.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a03ab346ad434508a31d8b362dc8a6bf"}}, "title": "Marginal zone lymphoma expression of histidine-rich glycoprotein correlates with improved survival.", "authors": [{"family": "Persson Skare", "given": "Tor", "initials": "T"}, {"family": "Sj\u00f6berg", "given": "Elin", "initials": "E"}, {"family": "Berglund", "given": "Mattias", "initials": "M"}, {"family": "Smith", "given": "Ross O", "initials": "RO"}, {"family": "Roche", "given": "Francis P", "initials": "FP"}, {"family": "Lindskog", "given": "Cecilia", "initials": "C"}, {"family": "Sander", "given": "Birgitta", "initials": "B"}, {"family": "Glimelius", "given": "Ingrid", "initials": "I"}, {"family": "Gholiha", "given": "Alex R", "initials": "AR", "orcid": "0000-0002-3393-1106", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d47518bd66114a30a8f52de713203cf1.json"}}, {"family": "Enblad", "given": "Gunilla", "initials": "G"}, {"family": "Amini", "given": "Rose-Marie", "initials": "RM", "orcid": "0000-0003-0901-5252", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae2f974dbafa4cdbbe268c635adcd278.json"}}, {"family": "Claesson-Welsh", "given": "Lena", "initials": "L", "orcid": "0000-0003-4275-2000", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6b07fbf00dad4ac8a4a53402888d55ef.json"}}], "type": "journal article", "published": "2020-07-00", "journal": {"title": "EJHaem", "issn": "2688-6146", "volume": "1", "issue": "1", "pages": "199-207", "issn-l": null}, "abstract": "The abundant hepatocyte-expressed plasma protein histidine-rich glycoprotein (HRG) enhances antitumor immunity by polarizing inflammatory and immune cells in several mouse models, however, the clinical relevance of HRG in human cancer is poorly explored. The expression and role of HRG in human B-cell lymphomas was investigated in order to find new tools for prognosis and treatment.\n\nImmunohistochemical (IHC) analysis and RNA hybridization of tissue microarrays showed that (i) HRG was expressed by tumor cells in marginal zone lymphoma (MZL), in 36% of 59 cases. Expression was also detected in follicular lymphoma (22%), mantle cell lymphoma (19%), and indiffuse large B-cell lymphoma (DLBCL;5%) while primary CNS lymphoma (PCNSL) lacked expression of HRG. (ii) MZL patients positive for HRG showed a superior overall survival outcome (HR = 0.086, 95% CI = 0.014-0.518, P-value = .007), indicating a protective role for HRG independent of stage, age and sex. (iii) HRG-expressing MZL displayed significantly increased transcript and protein levels of the host defense peptide alpha defensin 1. In addition, global transcript analyses showed significant changes in gene ontology terms relating to immunity and inflammation, however, infiltration of immune and inflammatory cells detected by IHC was unaffected by HRG expression.\n\nHRG expression by MZL tumor cells correlates with an altered transcription profile and improved overall survival.", "doi": "10.1002/jha2.73", "pmid": "35847718", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9175683"}, {"db": "pii", "key": "JHA273"}], "notes": [], "created": "2026-09-23T13:13:01.297Z", "modified": "2026-09-23T13:13:01.350Z"}], "created": "2026-09-23T13:09:34.945Z", "modified": "2026-09-23T13:09:34.945Z"}