دورية أكاديمية
Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.
| العنوان: | Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas. |
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| المؤلفون: | Martínez de LaPiscina I; Biocruces Bizkaia Health Research Institute, University of the Basque Country (UPV-EHU), Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), European Reference Network on Rare Endocrine Conditions (Endo-ERN), Barakaldo, Spain., Portillo Najera N; Pediatric Department, Biocruces Bizkaia Health Research Institute, Alto Deba Hospital, UPV-EHU, Barakaldo, Spain., Rica I; Pediatric Endocrinology Department, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, CIBERER, CIBERDEM, Endo-ERN, Barakaldo, Spain., Gaztambide S; Endocrinology Department, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERER, CIBERDEM, Endo-ERN, Barakaldo, Spain., Webb SM; Department of Endocrinology/Medicine, CIBERER U747, ISCIII, Research Center for Pituitary Diseases, Sant Pau Hospital, IIB-SPau, Universitat Autònoma de Barcelona, Barcelona, Spain., Santos A; Department of Endocrinology/Medicine, CIBERER U747, ISCIII, Research Center for Pituitary Diseases, Sant Pau Hospital, IIB-SPau, Universitat Autònoma de Barcelona, Barcelona, Spain., Moure MD; Endocrinology Department, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Endo-ERN, Barakaldo, Spain., Paja Fano M; Endocrinology Service, Basurto University Hospital, Bilbo, Spain., Hernandez MI; Institute of Maternal and Child Research (IDIMI), Faculty of Medicine, University of Chile, Santa Rosa 1234, IDIMI, Casilla, Santiago, Chile., Chueca-Guindelain MJ; Pediatric Endocrinology Unit, Navarra Complex Hospital, Navarra Institute for Health Research (IdiSNA), Pamplona, Spain., Hernández-Ramírez LC; Laboratory of Genomics, Research Support Network, National Autonomous University of Mexico, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Tlalpan, Mexico City, Mexico., Soto A; Endocrinology and Nutrition Department, Institute of Biomedicine of Seville (IBiS), Virgen del Rocío University Hospital, CSIC, University of Seville, Sevilla, Spain., Valdés N; Endocrinology and Nutrition Department, Cabueñes University Hospital, Gijón, Spain., Castaño L; Pediatric Endocrinology Department, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERER, CIBERDEM, Endo-ERN, Barakaldo, Spain. |
| المصدر: | European journal of endocrinology [Eur J Endocrinol] 2021 Aug 27; Vol. 185 (4), pp. 485-496. Date of Electronic Publication: 2021 Aug 27. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2023- : Oxford : Oxford University Press Original Publication: Oslo, Norway : Scandinavian University Press, c1994- |
| مواضيع طبية MeSH: | Adenoma*/diagnosis , Adenoma*/epidemiology , Adenoma*/genetics , Pituitary Neoplasms*/diagnosis , Pituitary Neoplasms*/epidemiology , Pituitary Neoplasms*/genetics, Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Chile/epidemiology ; Cohort Studies ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Testing ; Germ-Line Mutation ; Humans ; Infant ; Infant, Newborn ; Loss of Heterozygosity ; Male ; Spain/epidemiology ; Young Adult |
| مستخلص: | Objective: Pituitary adenomas (PA) are rare in young patients, and additional studies are needed to fully understand their pathogenesis in this population. We describe the clinical and genetic characteristics of apparently sporadic PA in a cohort of young patients. Design: Clinical and molecular analysis of 235 patients (age ≤ 30 years) with PA. Clinicians from several Spanish and Chilean hospitals provided data. Methods: Genetic screening was performed via next-generation sequencing and comparative genomic hybridization array. Clinical variables were compared among paediatric, adolescent (<19 years) and young adults' (≥19-30 years) cohorts and types of adenomas. Phenotype-genotype associations were examined. Results: Among the total cohort, mean age was 17.3 years. Local mass effect symptoms were present in 22.0%, and prolactinomas were the most frequent (44.7%). Disease-causing germline variants were identified in 22 individuals (9.3%), more exactly in 13.1 and 4.7% of the populations aged between 0-19 and 19-30 years, respectively; genetically positive patients were younger at diagnosis and had larger tumour size. Healthy family carriers were also identified. Conclusions: Variants in genes associated with syndromic forms of PAs were detected in a large cohort of apparently sporadic pituitary tumours. We have identified novel variants in well-known genes and set the possibility of incomplete disease penetrance in carriers of MEN1 alterations or a limited clinical expression of the syndrome. Despite the low penetrance observed, screening of AIP and MEN1 variants in young patients and relatives is of clinical value. |
| تواريخ الأحداث: | Date Created: 20210727 Date Completed: 20210908 Latest Revision: 20220426 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1530/EJE-21-0075 |
| PMID: | 34313605 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1479-683X |
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| DOI: | 10.1530/EJE-21-0075 |