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一名38岁孕妇的侵袭性鞍区-鞍上非典型畸胎样横纹肌样瘤:病例报告及文献复习

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

作者信息

Awwad Habeeb H, Assi Anas K, Khaled Zaina A, Sultan Riman A, Fatoum Sara N, Shehadeh Mohammad Hakam, Owienah Haneen, Abulilhya Mohand, Salman Sali, Shain Nadeem, Kharousha Abdalwahab, Dababseh Hadi

机构信息

Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.

Department of radiology, Al-istishari Arab Hospital, Ramallah, West Bank, Palestine.

出版信息

Ann Med Surg (Lond). 2025 May 26;87(7):4543-4548. doi: 10.1097/MS9.0000000000003382. eCollection 2025 Jul.

DOI:10.1097/MS9.0000000000003382
PMID:40851939
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12369810/
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.

摘要

引言与重要性

非典型畸胎样横纹肌样瘤(ATRT)是一种罕见且侵袭性强的中枢神经系统恶性肿瘤。它主要影响婴幼儿,成人病例极为罕见。本病例突出了一名38岁孕妇患ATRT所带来的诊断和管理挑战。

病例介绍

我们报告一例38岁孕妇患ATRT的病例,强调了这种侵袭性肿瘤在孕期带来的诊断和管理挑战。在妊娠晚期发现鞍区 - 鞍上病变。经过神经外科评估和影像学检查后,组织病理学检查确诊为ATRT。患者接受了左侧额颞开颅肿瘤切除术。随后分娩出一个存活的婴儿,以便进行辅助治疗。

临床讨论

ATRT是一种侵袭性肿瘤,主要影响婴儿,但罕见的成人病例与SMARCB1(INI1)或SMARCA4(BRG1)失活有关。ATRT的预后非常差。多模式治疗方法,包括手术、化疗和放疗,与更好的生存率相关。不同寻常的是,我们的患者实现了最大安全切除,但由于怀孕推迟了辅助治疗,凸显了此类病例中母体和胎儿健康之间的艰难平衡。

结论

本病例突出了成人ATRT的侵袭性、孕期管理肿瘤的挑战,以及早期识别和干预以优化结局的迫切需求。进一步的研究对于改善ATRT病例的预后至关重要,特别是在像怀孕这样的特殊临床情况下。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0e/12369810/8ba37797935b/ms9-87-4543-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0e/12369810/3cc4d93bfc7a/ms9-87-4543-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0e/12369810/3bae1fd8e88e/ms9-87-4543-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0e/12369810/22c082c145c1/ms9-87-4543-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0e/12369810/8ba37797935b/ms9-87-4543-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0e/12369810/3cc4d93bfc7a/ms9-87-4543-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0e/12369810/3bae1fd8e88e/ms9-87-4543-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0e/12369810/22c082c145c1/ms9-87-4543-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c0e/12369810/8ba37797935b/ms9-87-4543-g004.jpg

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本文引用的文献

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