Adrenocortical tumors associated with the TP53 p. R337H germline mutation can be identified during child-care consultations

作者：Mastellaro Maria J; Ribeiro Raul C; Oliveira Filho Antonio G; Seidinger Ana L; Cardinalli Izilda A; Miranda Eliana C M; Aguiar Simone S; Brandalise Silvia R; Yunes Jose A; Barros Filho Antonio A

来源：Jornal de Pediatria, 2018, 94(4): 432-439.

DOI：10.1016/j.jped.2017.06.009

• Adrenocortical tumor
• TP53 p. R337H
• Germinal mutation
• Early diagnosis
• Corticosteroid
• Growth

Objective: To evaluate the clinical features associated with adrenocortical hormone overexpression and familial cancer profiling as potential markers for early detection of adrenocortical tumors in children from South and Southeast Brazil.
Methods: The clinical manifestations and anthropometric measurements of 103 children diagnosed with adrenocortical tumors were analyzed.
Results: Between 1982 and 2011, 69 girls and 34 boys diagnosed with adrenocortical tumors were followed-up for a median time of 9.0 years (0-34 years). Signs of androgen overproduction atone (n=75) or associated with cortisol (n=18) were present in 90.3%. TP53 p.R337H mutation was found in 90.5% of patients. Stages I, II, III, and IV were observed in 45.6%, 27.2%, 19.4%, and 7.8% of patients, respectively. At diagnosis, there were no significant differences in height (p=0.92) and weight (p = 0.22) among children with adrenocortical tumors, but children with virilization alone had significantly higher height-for-age Z-scores (0.92 +/- 1.4) than children with hypercortisolism alone or combined (-0.32 +/- 1,8; p = 0.03). The five-year overall survival was 76.7% (SD +/- 4.2). Patients with advanced-stage disease had a significantly worse prognosis than those with limited disease (p<0.001). During follow-up, ten of 55 p.R337H carrier parents developed cancer, whereas none of the 55 non-carriers did.
Conclusions: Signs of adrenocortical hormone overproduction appear early, even in cases with early-stage. These signs can be identified at the physical examination and anthropometric measurements. In southern Brazil, pediatric adrenocortical tumor is a sentinel cancer for detecting families with germline p.R337H mutation in TP53 gene.

• 出版日期2018-8