KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

2011 ◽  
Vol 59 (3) ◽  
pp. 565-566 ◽  
Author(s):  
Mark Wijnen ◽  
Mariëlle Alders ◽  
Christian M. Zwaan ◽  
Anja Wagner ◽  
Marry M. van den Heuvel-Eibrink
Keyword(s):  
Genetic Predisposition ◽  
Adrenocortical Tumors ◽  
Pediatric Adrenocortical Tumors

Low expression ofHLA-DRA, HLA-DPA1, andHLA-DPB1is associated with poor prognosis in pediatric adrenocortical tumors (ACT)

2014 ◽  
Vol 61 (11) ◽  
pp. 1940-1948 ◽  
Author(s):  
Fabíola A. Leite ◽  
Regia C. P. Lira ◽  
Paola F. Fedatto ◽  
Sonir R. R. Antonini ◽  
Carlos E. Martinelli ◽  
...  
Keyword(s):  
Poor Prognosis ◽  
Adrenocortical Tumors ◽  
Low Expression ◽  
Pediatric Adrenocortical Tumors

Correlation between selected angiogenic markers and prognosis in pediatric adrenocortical tumors

2015 ◽  
Vol 50 (8) ◽  
pp. 1323-1328 ◽  
Author(s):  
André Ivan Bradley dos Santos Dias ◽  
Camila Girardi Fachin ◽  
Lucimar Retto Silva Avó ◽  
Caio Vinicius Gonçalves Frazão ◽  
Eliana Maria Monteiro Caran ◽  
...  
Keyword(s):  
Adrenocortical Tumors ◽  
Angiogenic Markers ◽  
Pediatric Adrenocortical Tumors

scholarly journals Phosphodiesterase 11A (PDE11A) and Genetic Predisposition to Adrenocortical Tumors

2008 ◽  
Vol 14 (12) ◽  
pp. 4016-4024 ◽  
Author(s):  
Rossella Libé ◽  
Amato Fratticci ◽  
Joel Coste ◽  
Frédérique Tissier ◽  
Anelia Horvath ◽  
...  
Keyword(s):  
Genetic Predisposition ◽  
Adrenocortical Tumors

scholarly journals Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward

Cancers ◽  
2021 ◽  
Vol 13 (23) ◽  
pp. 6111
Author(s):  
Karina C. F. Tosin ◽  
Edith F. Legal ◽  
Mara A. D. Pianovski ◽  
Humberto C. Ibañez ◽  
Gislaine Custódio ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Lessons Learned ◽  
Disease Stage ◽  
Tumor Weight ◽  
Adrenocortical Tumors ◽  
Screening Cost ◽  
Screening And Surveillance ◽  
Improved Outcomes ◽  
Age Of Diagnosis ◽  
Pediatric Adrenocortical Tumors

The incidence of pediatric adrenocortical tumors (ACT) is high in southern Brazil due to the founder TP53 R337H variant. Neonatal screening/surveillance (NSS) for this variant resulted in early ACT detection and improved outcomes. The medical records of children with ACT who did not participate in newborn screening (non-NSS) were reviewed (2012–2018). We compared known prognostic factors between the NSS and non-NSS cohorts and estimated surveillance and treatment costs. Of the 16 non-NSS children with ACT carrying the R337H variant, the disease stages I, II, III, and IV were observed in five, five, one, and five children, respectively. The tumor weight ranged from 22 to 608 g. The 11 NSS children with ACT all had disease stage I and were alive. The median tumor weight, age of diagnosis, and interval between symptoms and diagnosis were 21 g, 1.9 years, and two weeks, respectively, for the NSS cohort and 210 g, 5.2 years, and 15 weeks, respectively, for the non-NSS cohort. The estimated surveillance/screening cost per year of life saved is US$623/patient. NSS is critical for improving the outcome of pediatric ACT in this region. Hence, we strongly advocate for the inclusion of R337H in the state-mandated universal screening and surveillance.

Pediatric Adrenocortical Tumors: Clinicopathological Features—An Update

2016 ◽  
Vol 05 (04) ◽  
pp. 109-114
Author(s):  
Lucia Salvatorelli ◽  
Giuseppe Angelico ◽  
Fabio Motta ◽  
Andrea Di Cataldo ◽  
Pietro Milone ◽  
...  
Keyword(s):  
Clinicopathological Features ◽  
Adrenocortical Tumors ◽  
Pediatric Adrenocortical Tumors
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