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症状严重程度对原发性鞍区非典型畸胎样/横纹肌样瘤临床诊断的重要性。

Importance of symptoms acuity for clinical diagnosis of primary sellar atypical teratoid/rhabdoid tumor.

作者信息

Yu Run

机构信息

Department of Medicine, University of California, Los Angeles, David Geffen School of Medicine, Los Angeles, CA 90095, United States.

出版信息

World J Clin Oncol. 2025 May 24;16(5):106292. doi: 10.5306/wjco.v16.i5.106292.

Abstract

The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of "availability bias" so that pituitary adenoma is almost always considered the most likely diagnosis of all sellar masses, even when clinical evidence suggests otherwise. Primary sellar atypical teratoid/ rhabdoid tumor (AT/RT) is the most aggressive sellar tumor. Most patients with sellar AT/RT are initially misdiagnosed with pituitary macroadenoma. Early diagnosis of sellar AT/RT is of paramount importance to counsel patients and family on the grave prognosis and to avoid futile surgical procedures. Since there are no discerning imaging features to differentiate AT/RT from other sellar tumors, the acuity of sellar compression symptoms characteristic of AT/RT is the only evidence indicative of the AT/RT diagnosis. Based on the biological and anatomical properties of the sella turcica and its surrounding structures, the nature, order of manifestation, and acuity of the sellar compression symptoms in response to sellar content expansion are mostly predictable. It is concluded that rapidly progressive headache and subsequent similarly rapidly progressive visual symptoms in a female with a large sellar mass are pathognomonic of sellar AT/RT (the "Yu rule").

摘要

垂体腺瘤在鞍区肿块病因中占主导地位,这常常导致“可得性偏差”的诊断误区,以至于即使临床证据表明并非如此,垂体腺瘤几乎总是被认为是所有鞍区肿块最可能的诊断。原发性鞍区非典型畸胎样/横纹肌样瘤(AT/RT)是最具侵袭性的鞍区肿瘤。大多数鞍区AT/RT患者最初被误诊为垂体大腺瘤。鞍区AT/RT的早期诊断对于向患者及其家属说明严重预后以及避免徒劳的手术操作至关重要。由于没有可辨别AT/RT与其他鞍区肿瘤的影像学特征,AT/RT特有的鞍区压迫症状的严重程度是唯一表明AT/RT诊断的证据。根据蝶鞍及其周围结构的生物学和解剖学特性,蝶鞍内容物扩张时鞍区压迫症状的性质、表现顺序和严重程度大多是可预测的。得出结论,患有大鞍区肿块的女性出现快速进展的头痛以及随后同样快速进展的视觉症状是鞍区AT/RT的特征性表现(“余氏法则”)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f5c/12149828/9b53a99b2338/106292-g001.jpg

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