Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas
Por:
de LaPiscina, IM, Najera, NP, Rica, I, Gaztambide, S, Webb, SM, Santos, A, Moure, MD, Fano, MP, Hernandez, MI, Chueca-Guindelain, MJ, Hernandez-Ramirez, LC, Soto, A, Valdes, N, Castano, L, Hispanic-Chilean Pituitary Adenoma
Publicada:
1 oct 2021
Resumen:
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.
Filiaciones:
de LaPiscina, IM:
Univ Basque Country UPV EHU, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Ctr Invest Biomed Red Diabet & Enfermedades Metab, Biocruces Bizkaia Hlth Res Inst,European Referenc, Baracaldo, Spain
Najera, NP:
Univ Basque Country, Biocruces Bizkaia Hlth Res Inst, Pediat Dept, Alto Deba Hosp, Baracaldo, Spain
Rica, I:
Cruces Univ Hosp, Biocruces Bizkaia Hlth Res Inst, Pediat Endocrinol Dept, CIBERER,CIBERDEM,Endo ERN, Baracaldo, Spain
Gaztambide, S:
Univ Basque Country, Biocruces Bizkaia Hlth Res Inst, Endocrinol Dept, CIBERER,CIBERDEM,Endo ERN,Cruces Univ Hosp, Baracaldo, Spain
Webb, SM:
Univ Autonoma Barcelona, Res Ctr Pituitary Dis, Dept Endocrinol Med, ISCIII,CIBERER U747,IIB SPau,St Pau Hosp, Barcelona, Spain
Santos, A:
Univ Autonoma Barcelona, Res Ctr Pituitary Dis, Dept Endocrinol Med, ISCIII,CIBERER U747,IIB SPau,St Pau Hosp, Barcelona, Spain
Moure, MD:
Cruces Univ Hosp, Biocruces Bizkaia Hlth Res Inst, Endocrinol Dept, Baracaldo, Spain
Fano, MP:
Basurto Univ Hosp, Endocrinol Serv, Bilbao, Spain
Hernandez, MI:
Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, IDIMI, Santa Rosa 1234, Santiago, Chile
Chueca-Guindelain, MJ:
Navarra Inst Hlth Res IdiSNA, Pediat Endocrinol Unit, Navarra Complex Hosp, Pamplona, Spain
Hernandez-Ramirez, LC:
Univ Nacl Autonoma Mexico, Natl Inst Med Sci & Nutr Salvador Zubiran, Lab Genom, Res Support Network, Mexico City, DF, Mexico
Soto, A:
Univ Seville, Virgen del Rocio Univ Hosp, Inst Biomed Seville IBiS, CSIC,Endocrinol & Nutr Dept, Seville, Spain
Valdes, N:
Cabuenes Univ Hosp, Endocrinol & Nutr Dept, Gijon, Spain
Castano, L:
Univ Basque Country, Biocruces Bizkaia Hlth Res Inst, Pediat Endocrinol Dept, CIBERER,CIBERDEM,Endo ERN,Cruces Univ Hosp, Baracaldo, Spain
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