{"entity": "researcher", "timestamp": "2026-08-14T12:16:09.441Z", "family": "Wessman", "given": "Sandra", "initials": "S", "orcid": "0000-0002-2035-2092", "affiliations": ["Department of Clinical Pathology, Karolinska University Hospital, 141 86 Stockholm, Sweden.", "Department of Oncology-Pathology, Karolinska Institute, 171 77 Stockholm, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/f4680125750b4d949d691a745818a6f7.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/f4680125750b4d949d691a745818a6f7"}}, "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": "cd448ce0b19746f38c1fe9249ff70662", "links": {"self": {"href": "https://publications.scilifelab.se/publication/cd448ce0b19746f38c1fe9249ff70662.json"}, "display": {"href": "https://publications.scilifelab.se/publication/cd448ce0b19746f38c1fe9249ff70662"}}, "title": "Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.", "authors": [{"family": "Wadensten", "given": "Elisabeth", "initials": "E"}, {"family": "Wessman", "given": "Sandra", "initials": "S", "orcid": "0000-0002-2035-2092", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4680125750b4d949d691a745818a6f7.json"}}, {"family": "Abel", "given": "Frida", "initials": "F", "orcid": "0000-0001-6958-4487", "researcher": {"href": "https://publications.scilifelab.se/researcher/957445dd84024bac8cc6b1cca2f07473.json"}}, {"family": "Diaz De St\u00e5hl", "given": "Teresita", "initials": "T", "orcid": "0000-0001-5933-6623", "researcher": {"href": "https://publications.scilifelab.se/researcher/2f51158ce6e14f3b96bf16a214689d1d.json"}}, {"family": "Tesi", "given": "Bianca", "initials": "B"}, {"family": "Orsmark Pietras", "given": "Christina", "initials": "C"}, {"family": "Arvidsson", "given": "Linda", "initials": "L"}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/c250909cc40f42ff9d6e2f640d12451b.json"}}, {"family": "Fransson", "given": "Susanne", "initials": "S", "orcid": "0000-0002-9713-3074", "researcher": {"href": "https://publications.scilifelab.se/researcher/e3f155163dae47478aae39b9c47fdadc.json"}}, {"family": "Vogt", "given": "Hartmut", "initials": "H", "orcid": "0000-0001-6009-7789", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e08eceec8ff418a961e32d0518ab97a.json"}}, {"family": "Poluha", "given": "Anna", "initials": "A", "orcid": "0000-0002-4716-9423", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7c9d843ebd549a7875bf10d4a16ee8b.json"}}, {"family": "Pradhananga", "given": "Sailendra", "initials": "S"}, {"family": "Hellberg", "given": "Maria", "initials": "M"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K"}, {"family": "Raj Somarajan", "given": "Praveen", "initials": "P", "orcid": "0009-0005-5981-2286", "researcher": {"href": "https://publications.scilifelab.se/researcher/00a17539de3840108fa5d4bb9f454bab.json"}}, {"family": "Samuelsson", "given": "Sofie", "initials": "S"}, {"family": "Orrsj\u00f6", "given": "Sara", "initials": "S", "orcid": "0009-0008-9223-3923", "researcher": {"href": "https://publications.scilifelab.se/researcher/acd6e5385a7b4406b973a3adbed96245.json"}}, {"family": "Maqbool", "given": "Khurram", "initials": "K", "orcid": "0000-0003-2981-2582", "researcher": {"href": "https://publications.scilifelab.se/researcher/7ea06b85057744018f754c373fef3ca5.json"}}, {"family": "Henning", "given": "Karin", "initials": "K"}, {"family": "Strid", "given": "Tobias", "initials": "T"}, {"family": "Ek", "given": "Torben", "initials": "T", "orcid": "0000-0002-0518-983X", "researcher": {"href": "https://publications.scilifelab.se/researcher/ce340b203a7840b786b73fb94c12c49a.json"}}, {"family": "Fagman", "given": "Henrik", "initials": "H"}, {"family": "Olsson Bontell", "given": "Thomas", "initials": "T"}, {"family": "Martinsson", "given": "Tommy", "initials": "T", "orcid": "0000-0002-9403-3123", "researcher": {"href": "https://publications.scilifelab.se/researcher/90deb3f5dd5446e5853da797411dfd5d.json"}}, {"family": "Puls", "given": "Florian", "initials": "F", "orcid": "0000-0002-9841-4230", "researcher": {"href": "https://publications.scilifelab.se/researcher/cb2d41b4d47c41e89d675a438efd9095.json"}}, {"family": "Kogner", "given": "Per", "initials": "P", "orcid": "0000-0002-2202-9694", "researcher": {"href": "https://publications.scilifelab.se/researcher/e963274b921a4a2c8263f509334d4e22.json"}}, {"family": "Wirta", "given": "Valtteri", "initials": "V", "orcid": "0000-0003-3811-5439", "researcher": {"href": "https://publications.scilifelab.se/researcher/cba024b2e3c347f6b981922d984ad2d6.json"}}, {"family": "Pronk", "given": "Cornelis Jan", "initials": "CJ", "orcid": "0000-0002-0073-9660", "researcher": {"href": "https://publications.scilifelab.se/researcher/76e42ba48d824aa0b42e871e9f11b00a.json"}}, {"family": "Wille", "given": "Joakim", "initials": "J", "orcid": "0009-0008-6426-9830", "researcher": {"href": "https://publications.scilifelab.se/researcher/3b06137add284e3ca519eb0af7bf52d4.json"}}, {"family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "researcher": {"href": "https://publications.scilifelab.se/researcher/b570128e641140fb964ae3241414f510.json"}}, {"family": "Nist\u00e9r", "given": "Monica", "initials": "M", "orcid": "0000-0002-1261-3790", "researcher": {"href": "https://publications.scilifelab.se/researcher/e1dc80e61f574293a190f2f3ef464988.json"}}, {"family": "Mertens", "given": "Fredrik", "initials": "F"}, {"family": "Sabel", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3072-657X", "researcher": {"href": "https://publications.scilifelab.se/researcher/2378bd05915d47eca234fff49fb69289.json"}}, {"family": "Nor\u00e9n-Nystr\u00f6m", "given": "Ulrika", "initials": "U", "orcid": "0000-0001-5606-5442", "researcher": {"href": "https://publications.scilifelab.se/researcher/03f7a89bc35d4e72b4b2c0d4252b69f0.json"}}, {"family": "Grillner", "given": "Pernilla", "initials": "P"}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications.scilifelab.se/researcher/08e74c6ddc27493696beca0883027cdd.json"}}, {"family": "Ljungman", "given": "Gustaf", "initials": "G"}, {"family": "Sandgren", "given": "Johanna", "initials": "J", "orcid": "0000-0001-6776-2649", "researcher": {"href": "https://publications.scilifelab.se/researcher/1d5b6b16fdbe470f83de8748227f8987.json"}}, {"family": "Gisselsson", "given": "David", "initials": "D", "orcid": "0000-0002-0301-426X", "researcher": {"href": "https://publications.scilifelab.se/researcher/3653582762b14f9a9ad2fe6aba511115.json"}}, {"family": "Genomic Medicine Sweden Childhood Cancer Working Group", "given": "", "initials": ""}], "type": "journal article", "published": "2023-06-00", "journal": {"title": "JCO Precision Oncology", "issn": "2473-4284", "issn-l": "2473-4284", "volume": "7", "issue": null, "pages": "e2300039"}, "abstract": "Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such characterization offers clinically actionable data in a prospective broadly inclusive setting remains largely unexplored.\n\nWe implemented prospective whole-genome sequencing (WGS) of tumor and germline, complemented by whole-transcriptome sequencing (RNA-Seq) for all children diagnosed with a primary or relapsed solid malignancy in Sweden. Multidisciplinary molecular tumor boards were set up to integrate genomic data in the clinical decision process along with a medicolegal framework enabling secondary use of sequencing data for research purposes.\n\nDuring the study's first 14 months, 118 solid tumors from 117 patients were subjected to WGS, with complementary RNA-Seq for fusion gene detection in 52 tumors. There was no significant geographic bias in patient enrollment, and the included tumor types reflected the annual national incidence of pediatric solid tumor types. Of the 112 tumors with somatic mutations, 106 (95%) exhibited alterations with a clear clinical correlation. In 46 of 118 tumors (39%), sequencing only corroborated histopathological diagnoses, while in 59 cases (50%), it contributed to additional subclassification or detection of prognostic markers. Potential treatment targets were found in 31 patients (26%), most commonly ALK mutations/fusions (n = 4), RAS/RAF/MEK/ERK pathway mutations (n = 14), FGFR1 mutations/fusions (n = 5), IDH1 mutations (n = 2), and NTRK2 gene fusions (n = 2). In one patient, the tumor diagnosis was revised based on sequencing. Clinically relevant germline variants were detected in 8 of 94 patients (8.5%).\n\nUp-front, large-scale genomic characterization of pediatric solid malignancies provides diagnostically valuable data in the majority of patients also in a largely unselected cohort.", "doi": "10.1200/PO.23.00039", "pmid": "37384868", "labels": {"NGI Short read": "Collaborative", "National Genomics Infrastructure": "Collaborative", "NGI Stockholm (Genomics Production)": "Collaborative", "Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10581599"}], "notes": [], "created": "2023-10-11T08:39:38.509Z", "modified": "2024-11-21T07:53:59.877Z"}, {"entity": "publication", "iuid": "5777a937f5bc4433bd4fc6efc8aec0a0", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5777a937f5bc4433bd4fc6efc8aec0a0.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5777a937f5bc4433bd4fc6efc8aec0a0"}}, "title": "Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation.", "authors": [{"family": "Djos", "given": "Anna", "initials": "A", "orcid": "0000-0002-5250-2163", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f5b7b38c97d484cabc7013354b16fb5.json"}}, {"family": "Treis", "given": "Diana", "initials": "D", "orcid": "0000-0002-7887-9436", "researcher": {"href": "https://publications.scilifelab.se/researcher/c4ba612265714e60adca9d33db4bed9f.json"}}, {"family": "Fransson", "given": "Susanne", "initials": "S", "orcid": "0000-0002-9713-3074", "researcher": {"href": "https://publications.scilifelab.se/researcher/e3f155163dae47478aae39b9c47fdadc.json"}}, {"family": "Gordon Murkes", "given": "Lena", "initials": "L"}, {"family": "Wessman", "given": "Sandra", "initials": "S", "orcid": "0000-0002-2035-2092", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4680125750b4d949d691a745818a6f7.json"}}, {"family": "\u00c1smundsson", "given": "Jurate", "initials": "J", "orcid": "0000-0001-9104-9413", "researcher": {"href": "https://publications.scilifelab.se/researcher/6c2eba1eb8974c6caaf0e0a9680edfa3.json"}}, {"family": "Markstr\u00f6m", "given": "Agneta", "initials": "A"}, {"family": "Kogner", "given": "Per", "initials": "P", "orcid": "0000-0002-2202-9694", "researcher": {"href": "https://publications.scilifelab.se/researcher/e963274b921a4a2c8263f509334d4e22.json"}}, {"family": "Martinsson", "given": "Tommy", "initials": "T", "orcid": "0000-0002-9403-3123", "researcher": {"href": "https://publications.scilifelab.se/researcher/90deb3f5dd5446e5853da797411dfd5d.json"}}], "type": "case reports", "published": "2022-09-19", "journal": {"title": "Diagnostics", "issn": "2075-4418", "issn-l": "2075-4418", "volume": "12", "issue": "9", "pages": null}, "abstract": "A preterm infant with central hypoventilation was diagnosed with multifocal neuroblastoma. Congenital anomalies of the autonomic nervous system in association with neuroblastoma are commonly associated with germline mutations in PHOX2B. Further, the ALK gene is frequently mutated in both familial and sporadic neuroblastoma. Sanger sequencing of ALK and PHOX2B, SNP microarray of three tumor samples and whole genome sequencing of tumor and blood were performed. Genetic testing revealed a germline ALK F1174I mutation that was present in all tumor samples as well as in normal tissue samples from the patient. Neither of the patient's parents presented the ALK variant. Array profiling of the three tumor samples showed that two of them had only numerical aberrations, whereas one sample displayed segmental alterations, including a gain at chromosome 2p, resulting in two copies of the ALK-mutated allele. Whole genome sequencing confirmed the presence of the ALK variant and did not detect any aberrations in the coding or promotor region of PHOX2B. This study is to our knowledge the first to report a de novoALK F1174I germline mutation. This may not only predispose to congenital multifocal neuroblastoma but may also contribute to the respiratory dysfunction seen in this patient.", "doi": "10.3390/diagnostics12092260", "pmid": "36140661", "labels": {"Clinical Genomics Gothenburg": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9498070"}, {"db": "pii", "key": "diagnostics12092260"}], "notes": [], "created": "2022-12-02T12:22:39.427Z", "modified": "2024-01-16T13:48:34.997Z"}]}