{"entity": "researcher", "timestamp": "2026-07-13T09:12:30.386Z", "family": "\u0141ysiak", "given": "Malgorzata", "initials": "M", "orcid": "0000-0002-0244-759X", "affiliations": ["Department of Clinical and Experimental Medicine, Link\u00f6ping University, Link\u00f6ping, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/a7f5d37e79764c31a5a0a421c34ed1a8.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/a7f5d37e79764c31a5a0a421c34ed1a8"}}, "publications": [{"entity": "publication", "iuid": "7113a2d0392946c48648bba31fb03588", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7113a2d0392946c48648bba31fb03588.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7113a2d0392946c48648bba31fb03588"}}, "title": "Integrative Epigenomic and Transcriptomic Profiling Define Malignancy- and Cluster-Specific Signatures in Pheochromocytomas and Paragangliomas", "authors": [{"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875.json"}}, {"family": "\u0141ysiak", "given": "Ma\u0142gorzata", "initials": "M", "orcid": "0000-0002-0244-759X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7f5d37e79764c31a5a0a421c34ed1a8.json"}}, {"family": "Gimm", "given": "Oliver", "initials": "O", "orcid": "0000-0002-0054-664X", "researcher": {"href": "https://publications.scilifelab.se/researcher/9879641fb40042ae90ff034f4912a16d.json"}}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}], "type": "journal-article", "published": "2026-01-20", "journal": {"title": "Cells", "issn": "2073-4409", "volume": "15", "issue": "2", "pages": "198", "issn-l": "2073-4409"}, "abstract": null, "doi": "10.3390/cells15020198", "pmid": null, "labels": {"Clinical Genomics": "Service", "Clinical Genomics Link\u00f6ping": "Collaborative"}, "xrefs": [], "notes": [], "created": "2026-01-26T09:31:12.459Z", "modified": "2026-01-26T09:32:30.489Z"}, {"entity": "publication", "iuid": "9591fd31f8354bb68ebb9e31259336ef", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9591fd31f8354bb68ebb9e31259336ef.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9591fd31f8354bb68ebb9e31259336ef"}}, "title": "Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.", "authors": [{"family": "Tabebi", "given": "Mouna", "initials": "M", "orcid": "0000-0002-2873-161X", "researcher": {"href": "https://publications.scilifelab.se/researcher/285705c043f34b55826e7f33ab36a875.json"}}, {"family": "\u0141ysiak", "given": "Ma\u0142gorzata", "initials": "M", "orcid": "0000-0002-0244-759X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7f5d37e79764c31a5a0a421c34ed1a8.json"}}, {"family": "Dutta", "given": "Ravi Kumar", "initials": "RK"}, {"family": "Lomazzi", "given": "Sandra", "initials": "S"}, {"family": "Turkina", "given": "Maria V", "initials": "MV"}, {"family": "Brunaud", "given": "Laurent", "initials": "L", "orcid": "0000-0001-5182-6660", "researcher": {"href": "https://publications.scilifelab.se/researcher/132c416fbbde4a1f90d4a8c0e95f9f1f.json"}}, {"family": "Gimm", "given": "Oliver", "initials": "O", "orcid": "0000-0002-0054-664X", "researcher": {"href": "https://publications.scilifelab.se/researcher/9879641fb40042ae90ff034f4912a16d.json"}}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}], "type": "journal article", "published": "2022-01-06", "journal": {"title": "Cancers (Basel)", "issn": "2072-6694", "volume": "14", "issue": "2", "issn-l": "2072-6694"}, "abstract": "Somatic mutations, copy-number variations, and genome instability of mitochondrial DNA (mtDNA) have been reported in different types of cancers and are suggested to play important roles in cancer development and metastasis. However, there is scarce information about pheochromocytomas and paragangliomas (PCCs/PGLs) formation.\n\nTo determine the potential roles of mtDNA alterations in sporadic PCCs/PGLs, we analyzed a panel of 26 nuclear susceptibility genes and the entire mtDNA sequence of seventy-seven human tumors, using next-generation sequencing, and compared the results with normal adrenal medulla tissues. We also performed an analysis of copy-number alterations, large mtDNA deletion, and gene and protein expression.\n\nOur results revealed that 53.2% of the tumors harbor a mutation in at least one of the targeted susceptibility genes, and 16.9% harbor complementary mitochondrial mutations. More than 50% of the mitochondrial mutations were novel and predicted pathogenic, affecting mitochondrial oxidative phosphorylation. Large deletions were found in 26% of tumors, and depletion of mtDNA occurred in more than 87% of PCCs/PGLs. The reduction of the mitochondrial number was accompanied by a reduced expression of the regulators that promote mitochondrial biogenesis (PCG1\u03b1, NRF1, and TFAM). Further, P62 and LC3a gene expression suggested increased mitophagy, which is linked to mitochondrial dysfunction.\n\nThe pathogenic role of these finding remains to be shown, but we suggest a complementarity and a potential contributing role in PCCs/PGLs tumorigenesis.", "doi": "10.3390/cancers14020269", "pmid": "35053433", "labels": {"Clinical Genomics Link\u00f6ping": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC8773562"}, {"db": "pii", "key": "cancers14020269"}], "notes": [], "created": "2022-12-01T14:13:42.523Z", "modified": "2022-12-01T14:13:42.606Z"}, {"entity": "publication", "iuid": "d5a79a3f31dc4f9abe7b168539cb06ea", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d5a79a3f31dc4f9abe7b168539cb06ea.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d5a79a3f31dc4f9abe7b168539cb06ea"}}, "title": "Deletions on Chromosome Y and Downregulation of the SRY Gene in Tumor Tissue Are Associated with Worse Survival of Glioblastoma Patients.", "authors": [{"family": "\u0141ysiak", "given": "Ma\u0142gorzata", "initials": "M", "orcid": "0000-0002-0244-759X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7f5d37e79764c31a5a0a421c34ed1a8.json"}}, {"family": "Smits", "given": "Anja", "initials": "A", "orcid": "0000-0003-4171-2672", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e73b52dac6b4262a1aef442afe4a1f7.json"}}, {"family": "Roodakker", "given": "Kenney Roy", "initials": "KR"}, {"family": "Sandberg", "given": "Elisabeth", "initials": "E", "orcid": "0000-0002-9230-4751", "researcher": {"href": "https://publications.scilifelab.se/researcher/997fb5a248df416d99543a2c7a8e019a.json"}}, {"family": "Dimberg", "given": "Anna", "initials": "A"}, {"family": "Mudaisi", "given": "Munila", "initials": "M"}, {"family": "Bratth\u00e4ll", "given": "Charlotte", "initials": "C"}, {"family": "Strandeus", "given": "Michael", "initials": "M"}, {"family": "Milos", "given": "Peter", "initials": "P"}, {"family": "Hallbeck", "given": "Martin", "initials": "M"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Malmstr\u00f6m", "given": "Annika", "initials": "A", "orcid": "0000-0001-8410-4939", "researcher": {"href": "https://publications.scilifelab.se/researcher/34a15d92ca7442dcaec76288815f724c.json"}}], "type": "journal article", "published": "2021-03-31", "journal": {"title": "Cancers (Basel)", "issn": "2072-6694", "issn-l": "2072-6694", "volume": "13", "issue": "7", "pages": null}, "abstract": "Biological causes of sex disparity seen in the prevalence of cancer, including glioblastoma (GBM), remain poorly understood. One of the considered aspects is the involvement of the sex chromosomes, especially loss of chromosome Y (LOY).\r\n\r\nTumors from 105 isocitrate dehydrogenase (IDH) wild type male GBM patients were tested with droplet digital PCR for copy number changes of ten genes on chromosome Y. Decreased gene expression, a proxy of gene loss, was then analyzed in 225 IDH wild type GBM derived from TCGA and overall survival in both cohorts was tested with Kaplan-Meier log-rank analysis and maximally selected rank statistics for cut-off determination.\r\n\r\nLOY was associated with significantly shorter overall survival (7 vs. 14.6 months, p = 0.0016), and among investigated individual genes survival correlated most prominently with loss of the sex-determining region Y gene (SRY) (10.8 vs. 14.8 months, p = 0.0031). Gene set enrichment analysis revealed that epidermal growth factor receptor, platelet-derived growth factor receptor, and MYC proto-oncogene signaling pathways are associated with low SRY expression.\r\n\r\nOur data show that deletions and reduced gene expression of chromosome Y genes, especially SRY, are associated with reduced survival of male GBM patients and connected to major susceptibility pathways of gliomagenesis.", "doi": "10.3390/cancers13071619", "pmid": "33807423", "labels": {"Clinical Genomics Link\u00f6ping": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "cancers13071619"}, {"db": "pmc", "key": "PMC8036637"}], "notes": [], "created": "2021-12-09T13:01:58.155Z", "modified": "2021-12-09T13:02:14.872Z"}, {"entity": "publication", "iuid": "e3b833e7eec94b1f9efd4308ff203182", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e3b833e7eec94b1f9efd4308ff203182.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e3b833e7eec94b1f9efd4308ff203182"}}, "title": "Sex Disparities in MGMT Promoter Methylation and Survival in Glioblastoma: Further Evidence from Clinical Cohorts.", "authors": [{"family": "Smits", "given": "Anja", "initials": "A", "orcid": "0000-0003-4171-2672", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e73b52dac6b4262a1aef442afe4a1f7.json"}}, {"family": "Lysiak", "given": "Malgorzata", "initials": "M", "orcid": "0000-0002-0244-759X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7f5d37e79764c31a5a0a421c34ed1a8.json"}}, {"family": "Magnusson", "given": "Andreas", "initials": "A"}, {"family": "Rosell", "given": "Johan", "initials": "J"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Malmstr\u00f6m", "given": "Annika", "initials": "A", "orcid": "0000-0001-8410-4939", "researcher": {"href": "https://publications.scilifelab.se/researcher/34a15d92ca7442dcaec76288815f724c.json"}}], "type": "journal article", "published": "2021-02-03", "journal": {"title": "J Clin Med", "issn": "2077-0383", "issn-l": "2077-0383", "volume": "10", "issue": "4", "pages": null}, "abstract": "Recent studies suggest an overrepresentation of MGMT promoter methylated tumors in females with IDHwt glioblastoma (GBM) compared to males, with a subsequent better response to alkylating treatment.\r\n\r\nTo reveal sex-bound associations that may have gone unnoticed in the original analysis, we re-analyzed two previously published clinical cohorts. One was the multicenter Nordic trial of elderly patients with GBM, randomizing patients into three different treatment arms, including 203 cases with known MGMT promoter methylation status. The other was a population-based study of 179 patients with IDHwt GBM, receiving concomittant radiotherapy and chemotherapy with temozolomide. Cohorts were stratified by sex to test the hypothesis that female sex in combination with MGMT promoter methylation constitutes a subgroup with more favorable outcome.\r\n\r\nThere was a significantly larger proportion of MGMT promoter methylation and better outcome for female patients with MGMT promoter methylated tumors. Results were confirmed in 257 TCGA-derived IDHwt GBM with known sex and MGMT status.\r\n\r\nThese results confirm that patient sex in combination with MGMT promoter methylation is a key determinant in GBM to be considered prior to treatment decisions. Our study also illustrates the need for stratification to identify such sex-bound associations.", "doi": "10.3390/jcm10040556", "pmid": "33546098", "labels": {"Clinical Genomics Link\u00f6ping": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "jcm10040556"}, {"db": "pmc", "key": "PMC7913151"}], "notes": [], "created": "2021-12-09T13:02:39.417Z", "modified": "2021-12-09T13:02:54.428Z"}, {"entity": "publication", "iuid": "c6e37a25c32f49e39274af08facd008d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c6e37a25c32f49e39274af08facd008d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c6e37a25c32f49e39274af08facd008d"}}, "title": "ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide.", "authors": [{"family": "Malmstr\u00f6m", "given": "Annika", "initials": "A", "orcid": "0000-0001-8410-4939", "researcher": {"href": "https://publications.scilifelab.se/researcher/34a15d92ca7442dcaec76288815f724c.json"}}, {"family": "\u0141ysiak", "given": "Malgorzata", "initials": "M", "orcid": "0000-0002-0244-759X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7f5d37e79764c31a5a0a421c34ed1a8.json"}}, {"family": "\u00c5kesson", "given": "Lisa", "initials": "L"}, {"family": "Jakobsen", "given": "Ingrid", "initials": "I"}, {"family": "Mudaisi", "given": "Munila", "initials": "M"}, {"family": "Milos", "given": "Peter", "initials": "P"}, {"family": "Hallbeck", "given": "Martin", "initials": "M", "orcid": "0000-0001-6716-0314", "researcher": {"href": "https://publications.scilifelab.se/researcher/17f7b361871045a1b1e3cdfec9ebe5ec.json"}}, {"family": "Fomichov", "given": "Victoria", "initials": "V"}, {"family": "Broholm", "given": "Helle", "initials": "H"}, {"family": "Grunnet", "given": "Kirsten", "initials": "K"}, {"family": "Poulsen", "given": "Hans Skovgaard", "initials": "HS"}, {"family": "Bratth\u00e4ll", "given": "Charlotte", "initials": "C"}, {"family": "Strandeus", "given": "Michael", "initials": "M"}, {"family": "Papagiannopoulou", "given": "Angeliki", "initials": "A"}, {"family": "Stenmark-Askmalm", "given": "Marie", "initials": "M"}, {"family": "Green", "given": "Henrik", "initials": "H"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P", "orcid": "0000-0001-9867-8706", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1fc163b9a08421180f7f235af3897f4.json"}}], "type": "journal article", "published": "2020-04-00", "journal": {"title": "Pharmacogenomics J.", "issn": "1473-1150", "issn-l": "1470-269X", "volume": "20", "issue": "2", "pages": "213-219"}, "abstract": "Standard treatment for glioblastoma (GBM) patients is surgery and radiochemotherapy (RCT) with temozolomide (TMZ). TMZ is a substrate for ABCB1, a transmembrane drug transporter. It has been suggested that survival for GBM patients receiving TMZ is influenced by different single-nucleotide variants (SNV) of ABCB1. We therefore examined SNV:s of ABCB1, namely 1199G>A, 1236C>T, 2677G>T/A, and 3435C>T and correlated to survival for GBM patients receiving RCT. In a pilot cohort (97 patients) a significant correlation to survival was found for SNV 1199G>A, with median OS for variant G/G patients being 18.2 months versus 11.5 months for A/G (p = 0.012). We found no correlation to survival for the other SNV:s. We then expanded the cohort to 179 patients (expanded cohort) and also included a confirmatory cohort (49 patients) focusing on SNV 1199G>A. Median OS for G/G versus A/G plus A/A was 15.7 and 11.5 months, respectively (p = 0.085) for the expanded cohort and 13.8 versus 16.8 months (p = 0.19) for the confirmatory. In conclusion, in patients with GBM receiving RCT with TMZ, no correlation with survival was found for the SNV:s 1236C>T, 2677G>T/A, and 3435C>T of ABCB1. Although the SNV 1199G>A might have some impact, a clinically significant role could not be confirmed.", "doi": "10.1038/s41397-019-0107-z", "pmid": "31624332", "labels": {"Clinical Genomics Link\u00f6ping": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41397-019-0107-z"}], "notes": [], "created": "2020-12-11T13:38:43.422Z", "modified": "2024-01-16T13:48:42.714Z"}]}