| Texto completo | |
| Autor(es): Mostrar menos - |
Simoes, Maria Fernanda Evangelista
;
da Costa, Alexandre Andre Balieiro Anastacio
;
Silva, Tullio Novaes
;
Fernandes, Lizieux
;
Bovolim, Graziele
;
Torrezan, Giovana Tardin
;
Carraro, Dirce Maria
;
Baiocchi, Glauco
;
Menezes, Ademir Narcizo Oliveira
;
Santana Dos Santos, Elizabeth
;
De Brot, Louise
Número total de Autores: 11
|
| Tipo de documento: | Artigo Científico |
| Fonte: | CURRENT ONCOLOGY; v. 29, n. 2, p. 12-pg., 2022-02-01. |
| Resumo | |
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman with SCCOHT harboring a rare molecular finding with a highly aggressive biological behavior. The patient had a somatic SMARCB1 mutation instead of an expected SMARCA4 alteration. Even though the patient was treated with high-dose chemotherapy followed by stem cell transplantation, she evolved with disease progression and died 11 months after her first symptoms appeared. We present a literature review of this rare disease and discuss the findings in the present patient in comparison to expected molecular alterations and options for SCCOHT treatment. (AU) | |
| Processo FAPESP: | 14/50943-1 - INCT 2014: de Oncogenômica e Inovação Terapêutica |
| Beneficiário: | Dirce Maria Carraro |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |
| Processo FAPESP: | 18/06269-5 - Utilização de abordagens genômicas combinadas para investigar as causas genéticas de tumores raros em crianças, adolescentes e adultos jovens |
| Beneficiário: | Giovana Tardin Torrezan |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |