Aggressive sellar-suprasellar atypical teratoid rhabdoid tumor in a 38-year-old pregnant woman: a case report and literature review

一例发生于38岁孕妇的侵袭性鞍区-鞍上区非典型畸胎瘤样横纹肌瘤:病例报告及文献复习

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Abstract

INTRODUCTION AND IMPORTANCE: Atypical teratoid rhabdoid tumor (ATRT) is a rare and aggressive central nervous system malignancy. It primarily affects infants and young children, with adult cases being exceptionally uncommon. This case highlights the diagnostic and management challenges posed by ATRT in a 38-year-old pregnant woman. CASE PRESENTATION: We present a case of ATRT in a 38-year-old pregnant woman, highlighting the diagnostic and management challenges posed by this aggressive tumor during pregnancy. A sellar-suprasellar lesion during the third trimester of pregnancy was discovered. Following neurosurgical evaluation and imaging studies, a diagnosis of ATRT was confirmed by histopathological examination. The patient underwent a left fronto-lateral craniotomy for tumor resection. Afterward a viable baby was delivered to proceed with adjuvant management. CLINICAL DISCUSSION: ATRT is an aggressive tumor mainly affecting infants, but with rare adult cases linked to inactivation of SMARCB1 (INI1) or SMARCA4 (BRG1). ATRT is characterized by a very poor prognosis. A multimodal treatment approach, combining surgery, chemotherapy, and radiotherapy has been associated with better survival rates. As unusual, maximal safe resection was achieved in our patient, but adjuvant therapy was deferred due to pregnancy, and highlighting the difficult balance between maternal and fetal health in such cases. CONCLUSION: This case highlights the aggressive nature of ATRT in adults, the challenges of managing the tumor during pregnancy, and the critical need for early recognition and intervention to optimize outcomes. Further research is essential to improve prognosis in ATRT cases, particularly in unique clinical scenarios like pregnancy.

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