Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Manifestación rara; Tosca; Complejo de esclerosis tuberosa

Detalles Bibliográficos
Autores: Sauter, Matthias, Belousova, Elena, Perkovic Benedik, Mirjana, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Macaya Ruíz, Alfons
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Departament de Salut de la Generalitat de Catalunya (DS)
Repositorio:Scientia. Dipòsit d'Informació Digital del Departament de Salut
OAI Identifier:oai:scientiasalut.gencat.cat:11351/7088
Acceso en línea:https://hdl.handle.net/11351/7088
Access Level:acceso abierto
Palabra clave:Esclerosi tuberosa - Aspectes genètics
Registres mèdics
Malalties rares
DISEASES::Neoplasms::Hamartoma::Tuberous Sclerosis
Other subheadings::Other subheadings::Other subheadings::/genetics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries
DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases
ENFERMEDADES::neoplasias::hamartoma::esclerosis tuberosa
Otros calificadores::Otros calificadores::Otros calificadores::/genética
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras
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oai_identifier_str oai:scientiasalut.gencat.cat:11351/7088
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
title Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
spellingShingle Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Sauter, Matthias
Esclerosi tuberosa - Aspectes genètics
Registres mèdics
Malalties rares
DISEASES::Neoplasms::Hamartoma::Tuberous Sclerosis
Other subheadings::Other subheadings::Other subheadings::/genetics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries
DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases
ENFERMEDADES::neoplasias::hamartoma::esclerosis tuberosa
Otros calificadores::Otros calificadores::Otros calificadores::/genética
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras
title_short Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
title_full Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
title_fullStr Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
title_full_unstemmed Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
title_sort Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
dc.creator.none.fl_str_mv Sauter, Matthias
Belousova, Elena
Perkovic Benedik, Mirjana
Carter, Tom
Cottin, Vincent
Curatolo, Paolo
Macaya Ruíz, Alfons
author Sauter, Matthias
author_facet Sauter, Matthias
Belousova, Elena
Perkovic Benedik, Mirjana
Carter, Tom
Cottin, Vincent
Curatolo, Paolo
Macaya Ruíz, Alfons
author_role author
author2 Belousova, Elena
Perkovic Benedik, Mirjana
Carter, Tom
Cottin, Vincent
Curatolo, Paolo
Macaya Ruíz, Alfons
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[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
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Esclerosi tuberosa - Aspectes genètics
Registres mèdics
Malalties rares
DISEASES::Neoplasms::Hamartoma::Tuberous Sclerosis
Other subheadings::Other subheadings::Other subheadings::/genetics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries
DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases
ENFERMEDADES::neoplasias::hamartoma::esclerosis tuberosa
Otros calificadores::Otros calificadores::Otros calificadores::/genética
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras
topic Esclerosi tuberosa - Aspectes genètics
Registres mèdics
Malalties rares
DISEASES::Neoplasms::Hamartoma::Tuberous Sclerosis
Other subheadings::Other subheadings::Other subheadings::/genetics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries
DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases
ENFERMEDADES::neoplasias::hamartoma::esclerosis tuberosa
Otros calificadores::Otros calificadores::Otros calificadores::/genética
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras
description Manifestación rara; Tosca; Complejo de esclerosis tuberosa
publishDate 2021
dc.date.none.fl_str_mv 2021
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/7088
url https://hdl.handle.net/11351/7088
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Orphanet Journal of Rare Diseases;16
https://doi.org/10.1186/s13023-021-01917-y
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv Scientia
reponame:Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname:Departament de Salut de la Generalitat de Catalunya (DS)
instname_str Departament de Salut de la Generalitat de Catalunya (DS)
reponame_str Scientia. Dipòsit d'Informació Digital del Departament de Salut
collection Scientia. Dipòsit d'Informació Digital del Departament de Salut
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869425154977693696
spelling Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)Sauter, MatthiasBelousova, ElenaPerkovic Benedik, MirjanaCarter, TomCottin, VincentCuratolo, PaoloMacaya Ruíz, AlfonsEsclerosi tuberosa - Aspectes genèticsRegistres mèdicsMalalties raresDISEASES::Neoplasms::Hamartoma::Tuberous SclerosisOther subheadings::Other subheadings::Other subheadings::/geneticsANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::RegistriesDISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare DiseasesENFERMEDADES::neoplasias::hamartoma::esclerosis tuberosaOtros calificadores::Otros calificadores::Otros calificadores::/genéticaTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registrosENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades rarasManifestación rara; Tosca; Complejo de esclerosis tuberosaManifestació rara; Tosca; Complex d'esclerosi tuberosaRare manifestation; Tosca; Tuberous sclerosis complexBackground 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.The study was funded by Novartis Pharma AG. Novartis has contributed to the study design, data analysis, and the decision to publish. Novartis authors reviewed the draft for submission.BMCInstitut Català de la Salut[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, SpainVall d'Hebron Barcelona Hospital Campus202220222021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttps://hdl.handle.net/11351/7088Scientiareponame:Scientia. Dipòsit d'Informació Digital del Departament de Salutinstname:Departament de Salut de la Generalitat de Catalunya (DS)InglésOrphanet Journal of Rare Diseases;16https://doi.org/10.1186/s13023-021-01917-yAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:scientiasalut.gencat.cat:11351/70882026-06-12T09:38:37Z
score 15,812429

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