{"entity": "researcher", "timestamp": "2026-08-17T17:41:27.920Z", "family": "Tettamanti", "given": "Giorgio", "initials": "G", "orcid": "0000-0002-5210-7219", "affiliations": ["From the Department of Molecular Medicine and Surgery, Center for Molecular Medicine (C.M.G., G.T., F.T., A.S.N., A.N.), Unit of Epidemiology, Institute of Environmental Medicine (G.T.), and Department of Women's and Children's Health (T.S.), Karolinska Institutet; Department of Clinical Genetics and Genomics (F.T., A.N.), Department of Radiology (A.S.N.), and Department of Child Neurology, Astrid Lindgren Children's Hospital (T.S.), Karolinska University Hospital, Stockholm; Department of Clinical Genetics and Genomics (A.N.), Sahlgrenska University Hospital, Gothenburg; and Institute of Biomedicine, Department of Laboratory Medicine (A.N.), University of Gothenburg, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/275ddc738872402aa820da4d0a3d60f0.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/275ddc738872402aa820da4d0a3d60f0"}}, "publications": [{"entity": "publication", "iuid": "1c4d18bc851d45a187a3f9d67b07d538", "links": {"self": {"href": "https://publications.scilifelab.se/publication/1c4d18bc851d45a187a3f9d67b07d538.json"}, "display": {"href": "https://publications.scilifelab.se/publication/1c4d18bc851d45a187a3f9d67b07d538"}}, "title": "Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.", "authors": [{"family": "Maya-Gonz\u00e1lez", "given": "Carolina", "initials": "C", "orcid": "0000-0003-0385-475X", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c08ce0ec0bf4403a7c187038cdf3ca5.json"}}, {"family": "D\u00edaz De St\u00e5hl", "given": "Teresita", "initials": "T", "orcid": "0000-0001-5933-6623", "researcher": {"href": "https://publications.scilifelab.se/researcher/2f51158ce6e14f3b96bf16a214689d1d.json"}}, {"family": "Wessman", "given": "Sandra", "initials": "S", "orcid": "0000-0002-2035-2092", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4680125750b4d949d691a745818a6f7.json"}}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/c250909cc40f42ff9d6e2f640d12451b.json"}}, {"family": "Tesi", "given": "Bianca", "initials": "B", "orcid": "0000-0002-8253-2507", "researcher": {"href": "https://publications.scilifelab.se/researcher/96a994cd257c4833a4efe79e26b900ff.json"}}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K", "orcid": "0000-0001-9848-0468", "researcher": {"href": "https://publications.scilifelab.se/researcher/63d275105d9b4253944abaa311c986ee.json"}}, {"family": "Tettamanti", "given": "Giorgio", "initials": "G", "orcid": "0000-0002-5210-7219", "researcher": {"href": "https://publications.scilifelab.se/researcher/275ddc738872402aa820da4d0a3d60f0.json"}}, {"family": "Dukic", "given": "Milena", "initials": "M"}, {"family": "Poluha", "given": "Anna", "initials": "A", "orcid": "0000-0002-4716-9423", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7c9d843ebd549a7875bf10d4a16ee8b.json"}}, {"family": "Ljungman", "given": "Gustaf", "initials": "G", "orcid": "0000-0002-4949-2494", "researcher": {"href": "https://publications.scilifelab.se/researcher/addd279dba044334bc5347258b3de44d.json"}}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications.scilifelab.se/researcher/08e74c6ddc27493696beca0883027cdd.json"}}], "type": "case reports", "published": "2024-12-29", "journal": {"title": "Am J Case Rep", "issn": "1941-5923", "volume": "25", "pages": "e945715", "issn-l": null}, "abstract": "BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas. However, the DSRCT risk and general cancer risk in patients with LGMD is unknown. Here, we delineate the clinical, molecular, and genetic findings of a patient with LGMDR1 who developed a DSRCT. CASE REPORT The patient was a boy who was diagnosed at the age of 9 years with LGMDR1, caused by the biallelic pathogenic variants NP_000061.1:p.(Arg448Cys) and NP_000061.1:p.(Thr184ArgfsTer36) in CAPN3. At 17 years of age, a pathologic soft tissue mass was found in the right pelvis. Immunostaining was positive for Desmin and negative for Myogenin and MyoD1, and RNA sequencing showed a EWSR1::WT1 fusion transcript, confirming the diagnosis of DSRCT. The patient relapsed after 1 year and, following a second relapse, he was started on palliative treatment. No germline variants in childhood cancer predisposition genes were detected by whole genome sequencing. CONCLUSIONS We describe a patient with LGMDR1 who developed a DSRCT. Since associations between LGMD and pediatric cancer are hitherto unknown, further studies are warranted, as little information is currently published about the pediatric cancer risk in this patient group.", "doi": "10.12659/AJCR.945715", "pmid": "39733240", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11694770"}, {"db": "pii", "key": "945715"}], "notes": [], "created": "2025-11-18T20:45:04.884Z", "modified": "2025-11-18T20:45:05.321Z"}, {"entity": "publication", "iuid": "632d45cd5d4c4a929a9d60d3fed5b0c8", "links": {"self": {"href": "https://publications.scilifelab.se/publication/632d45cd5d4c4a929a9d60d3fed5b0c8.json"}, "display": {"href": "https://publications.scilifelab.se/publication/632d45cd5d4c4a929a9d60d3fed5b0c8"}}, "title": "Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy: A Register-Based Cohort Study.", "authors": [{"family": "Maya-Gonz\u00e1lez", "given": "Carolina", "initials": "C", "orcid": "0000-0003-0385-475X", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c08ce0ec0bf4403a7c187038cdf3ca5.json"}}, {"family": "Tettamanti", "given": "Giorgio", "initials": "G", "orcid": "0000-0002-5210-7219", "researcher": {"href": "https://publications.scilifelab.se/researcher/275ddc738872402aa820da4d0a3d60f0.json"}}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/c250909cc40f42ff9d6e2f640d12451b.json"}}, {"family": "Skarin Nordenvall", "given": "Anna", "initials": "A"}, {"family": "Sejersen", "given": "Thomas", "initials": "T", "orcid": "0000-0001-5961-7097", "researcher": {"href": "https://publications.scilifelab.se/researcher/ab13ad6b63424037addb7dd1afbda3b2.json"}}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications.scilifelab.se/researcher/08e74c6ddc27493696beca0883027cdd.json"}}], "type": "journal article", "published": "2024-10-22", "journal": {"title": "Neurology", "issn": "1526-632X", "volume": "103", "issue": "8", "pages": "e209883", "issn-l": "0028-3878"}, "abstract": "Muscular dystrophies and myotonic disorders are genetic disorders characterized by progressive skeletal muscle degeneration and weakness. Epidemiologic studies have found an increased cancer risk in myotonic dystrophy, although the cancer risk spectrum is poorly characterized. In patients with muscular dystrophy, the cancer risk is uncertain. We aimed to determine the overall cancer risk and cancer risk spectrum in patients with muscular dystrophy and myotonic dystrophy using data from the Swedish National registers.\n\nWe performed a matched cohort study in all patients with muscular dystrophy or myotonic dystrophy born in Sweden 1950-2017 and 50 matched comparisons by sex, year of birth, and birth county per individual. The association with cancer overall and specific malignancies was estimated using stratified Cox proportional hazard models.\n\nWe identified 2,355 and 1,968 individuals with muscular dystrophy and myotonic dystrophy, respectively. No increased overall cancer risk was found in muscular dystrophy. However, we observed an increased risk of astrocytomas and other gliomas during childhood (hazard ratio [HR] 8.70, 95% CI 3.57-21.20) and nonthyroid endocrine cancer (HR 2.35, 95% CI 1.03-5.34) and pancreatic cancer (HR 4.33, 95% CI 1.55-12.11) in adulthood. In myotonic dystrophy, we found an increased risk of pediatric brain tumors (HR 3.23, 95% CI 1.16-9.01) and an increased overall cancer risk in adults (HR 2.26, CI 1.92.2.66), specifically brain tumors (HR 10.44, 95% CI 7.30-14.95), thyroid (HR 3.92, 95% CI 1.70-9.03), and nonthyroid endocrine cancer (HR 7.49, 95% CI 4.47-12.56), endometrial (HR 8.32, 95% CI 4.22-16.40), ovarian (HR 4.00, 95% CI 1.60-10.01), and nonmelanoma skin cancer (HR 3.27, 95% CI 1.32-8.13).\n\nHere, we analyze the cancer risk spectrum of patients with muscular dystrophy and myotonic dystrophy. To the best of our knowledge, this is the first report of an increased risk for CNS tumors in childhood and adult nonthyroid endocrine and pancreatic cancer in muscular dystrophy. Furthermore, for myotonic dystrophy, we confirmed previously reported associations with cancer and expanded the cancer spectrum, finding an unreported increased risk for nonthyroid endocrine cancer. Additional studies confirming the cancer risk and delineating the cancer spectrum in different genetic subtypes of muscular dystrophies are warranted before considering altered cancer screening recommendations than for the general population.", "doi": "10.1212/WNL.0000000000209883", "pmid": "39298705", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11446166"}], "notes": [], "created": "2024-11-25T16:59:48.241Z", "modified": "2024-11-25T16:59:48.673Z"}]}