Dados do Trabalho

Título

TERATOID RABDOID TUMOR: CASE REPORT

Apresentação do caso

CASE PRESENTATION: A 3-year-old female patient with a report of frontal headache and vomiting in November 2020. Imaging exams showed an expansive intracranial lesion in the right frontotemporal region. She underwent a biopsy that indicated a small cell malignancy. Immunohistochemistry (IHC) indicated rhabdoid teratoid tumor, WHO 4, loss of INI1 expression (SMARCB1). She underwent ventricular bypass on 02/28/2021 and total lesion resection on 03/03/21. Patient with proposal of adjuvant chemoradiotherapy treatment. New imaging tests were performed that indicated secondary implants in the medulla, meninges and ependyma. She was hospitalized in the intensive care unit, having evolved with convulsive crises and sensory impairment. He died on 05/16/21.

Discussão

DISCUSSION: Rhabdoid teratoid tumor (TA/RT) is a rare and aggressive malignant neoplasm of the central nervous system (CNS), often diagnosed in early childhood, with high mortality. The estimated incidence is 2–3% of all primary CNS tumors. Previously, it was identified as rhabdomyosarcoma, medulloblastoma, malignant teratoma, or primitive neuroectodermal tumor (PNET). With the advent of the use of IHC in the 1990s, specific markers of the disease were found. Histologically, it is a tumor of embryological origin that contains a rhabdoid component and primitive neuroectodermal, mesenchymal and epithelial cells. It is currently diagnosed using a combination of histological findings with the loss of nuclear expression of the SMARCB1 or INI1 gene (tumor suppressor gene located on chromosome 22q.11.2) (finding that can be detected by IHC). Other tumors, such as schwannomas and poorly differentiated chordomas, may show loss of nuclear expression of SMARCB1, but they are differentiated from AT/RT by anatomical differences. Previously, it was treated as medulloblastoma, and the maximum possible resection was indicated, followed by adjuvant chemotherapy and radiotherapy. Currently, even with molecular advances, there is still no effective standard treatment. The vast majority of children die from the disease within 1 year of diagnosis.

Comentários finais

FINAL COMMENTS:
AT/RT is a rare, aggressive and poorly known malignant neoplasm. There are few studies and case reports on the pathology and on its treatment. There have been advances in molecular diagnosis, but studies related to the correct therapy are needed for better management and patient survival.

Palavras-chave

Teratoide Tumor; Radiation Therapy; Central Nervous System Neoplasms