RESUMO
Gastric type 1 neuroendocrine tumours are considered to have low rates of proliferation and a good prognosis. We report here a patient with an aggressive well-differentiated high-grade gastric neuroendocrine tumour (gastric grade 3 NET), in a context of autoimmune gastritis. Consistent with grade 3 disease, the tumour had a Ki-67 proliferation index of 30%. Targeted next-generation sequencing identified variants of four genes, including a pathogenic ATM variant underlying the differentiation and metastatic potential of the tumour. Liver metastasis was diagnosed during follow-up, and the patient died after 6 years, due to disease progression.
Assuntos
Proteínas Mutadas de Ataxia Telangiectasia/genética , Tumores Neuroendócrinos/patologia , Neoplasias Gástricas/patologia , Idoso , Diferenciação Celular , Diagnóstico Diferencial , Evolução Fatal , Feminino , França , Humanos , Neoplasias Hepáticas/secundário , Gradação de Tumores , Invasividade Neoplásica , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/genética , Tumores Neuroendócrinos/metabolismo , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/genética , Neoplasias Gástricas/metabolismoRESUMO
INTRODUCTION: Primary retroperitoneal synovial sarcoma is a rare malignant neoplasm that typically arises in young adults. We report here an unusual presentation of this tumor during hemorrhagic shock and retroperitoneal hematoma. CASE: A 31-year-old man was admitted complaining of acute violent pain of the right lower abdominal quadrant. Physical examination was normal. The computed tomography scan showed a heterogeneous retroperitoneal mass near the iliac bifurcation, with a diameter of 3 cm and spontaneous contrast. The tumor ruptured shortly afterwards and the patient underwent emergency surgery for hemorrhagic shock and retroperitoneal hematoma. No metastases were observed. Although six cycles of doxorubicin and ifosfamide led to initial clinical and tomographic remission, relapse occurred 17 months later. DISCUSSION: Only 20 cases of primary retroperitoneal synovial sarcoma have been described. They are most often discovered following abdominal pain or anemia. Tumor rupture with retroperitoneal hematoma has not previously been reported. Surgical ablation remains the basis for management of this tumor, and survival appears to depend on its quality. Prognosis is poor. Our case is original by the tumor's location and mode of discovery.