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.
Assuntos
Carcinoma de Células Pequenas , Neoplasias Pulmonares , Neoplasias Ovarianas , Tumor Rabdoide , Proteína SMARCB1 , Carcinoma de Células Pequenas/tratamento farmacológico , Carcinoma de Células Pequenas/terapia , DNA Helicases/genética , Evolução Fatal , Feminino , Humanos , Mutação , Proteínas Nucleares/genética , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/terapia , Ovário/patologia , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Tumor Rabdoide/terapia , Proteína SMARCB1/genética , Fatores de Transcrição/genéticaRESUMO
A large spectrum of pathologic pelvic conditions can present with hemorrhage in structures or organs. These may present acutely, subacutely, chronically or as incidental findings. Clinical history and MRI characteristics can often narrow the differential diagnosis and guide management. The purpose of this article is to showcase a wide array of pelvic lesions, in which the presence of blood is a key imaging feature, and their differential diagnosis.