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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorSauter, Matthias
dc.contributor.authorBelousova, Elena
dc.contributor.authorPerkovic Benedik, Mirjana
dc.contributor.authorCarter, Tom
dc.contributor.authorCottin, Vincent
dc.contributor.authorCuratolo, Paolo
dc.contributor.authorMacaya Ruíz, Alfons
dc.date.accessioned2022-02-25T13:32:54Z
dc.date.available2022-02-25T13:32:54Z
dc.date.issued2021-07-06
dc.identifier.citationSauter M, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, et al. Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet J Rare Dis. 2021 Jul 6;16:301.
dc.identifier.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/11351/7088
dc.descriptionRare manifestation; Tosca; Tuberous sclerosis complex
dc.description.abstractBackground Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rare disease manifestations and to the potential association of TSC with malignant tumors. In this study we sought to characterize rare manifestations and malignancies using a large cohort of patients. Methods TuberOus SClerosis registry to increAse disease awareness (TOSCA) is a multicenter, international disease registry collecting clinical manifestations and characteristics of patients with TSC, both retrospectively and prospectively. We report rates and characteristics of rare manifestations and malignancies in patients with TSC who had enrolled in the TOSCA registry. We also examined these manifestations by age, sex, and genotype (TSC1 or TSC2). Results Overall, 2211 patients with TSC were enrolled in the study. Rare manifestations were reported in 382 (17.3%) study participants and malignancies in 65 (2.9%). Of these rare manifestations, the most frequent were bone sclerotic foci (39.5%), scoliosis (23%), thyroid adenoma (5.5%), adrenal angiomyolipoma (4.5%), hemihypertrophy and pancreatic neuroendocrine tumors (pNET; both 3.1%). These rare manifestations were more commonly observed in adults than children (66.2% vs. 22.7%), in females versus males (58.4% vs. 41.6%; except for scoliosis: 48.9% vs. 51.1%), and in those with TSC2 versus TSC1 (67.0% vs. 21.1%; except for thyroid adenoma: 42.9% vs. 57.1%). In the 65 individuals with reported malignancies, the most common were renal cell carcinoma (47.7%), followed by breast (10.8%) and thyroid cancer (9.2%). Although malignancies were more common in adult patients, 26.1% were reported in children and 63.1% in individuals < 40 years. TSC1 mutations were over-represented in individuals with malignancies compared to the overall TOSCA cohort (32.1% vs. 18.5%). Conclusion Rare manifestations were observed in a significant proportion of individuals with TSC. We recommend further examination of rare manifestations in TSC. Collectively, malignancies were infrequent findings in our cohort. However, compared to the general population, malignant tumors occurred earlier in age and some tumor types were more common.
dc.language.isoeng
dc.publisherBMC
dc.relation.ispartofseriesOrphanet Journal of Rare Diseases;16
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectEsclerosi tuberosa - Aspectes genètics
dc.subjectRegistres mèdics
dc.subjectMalalties rares
dc.subject.meshTuberous Sclerosis
dc.subject.mesh/genetics
dc.subject.meshRegistries
dc.subject.meshRare Diseases
dc.titleRare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s13023-021-01917-y
dc.subject.decsesclerosis tuberosa
dc.subject.decs/genética
dc.subject.decsregistros
dc.subject.decsenfermedades raras
dc.relation.publishversionhttps://doi.org/10.1186/s13023-021-01917-y
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Sauter M] Klinikum Kempten, Klinikverbund Allgäu, Robert-Weixler-Str. 50, 87439 Kempten, Germany. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russian Federation. [Benedik MP] SPS Pediatrična Klinika, Ljubljana, Slovenia. [Carter T] TSA Tuberous Sclerosis Association, Nottingham, UK. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Tor Vergata University Hospital, Rome, Italy. [Macaya A] Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.identifier.pmid34229737
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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