Alexander Disease: An Important Mimicker of Focal Brainstem Glioma-Response.
Alexander Disease: An Important Mimicker of Focal Brainstem Glioma-Response.
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亚历山大病：局灶性脑干胶质瘤反应的重要模仿者。
DOI：
10.1002/pbc.22335
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发表时间：
2010
影响因子：
3.2
通讯作者：
Morris,EBrannon
中科院分区：
文献类型：
--
作者：
VanPoppel,Katherine;Ellison,David;Broniscer,Alberto;Patay,Zoltan;Morris,EBrannon
致编辑：我们很高兴读到Ring等人提出的有趣的病例，就像我们的病例一样，它表明在MRI上有特别不寻常的肿块病变的患者中考虑诊断亚历山大病的重要性。虽然本病例讨论的是青少年亚历山大病的局灶性后窝病变，但本病例强调了一个事实，即即使是典型的婴儿亚历山大病也可能给人以肿瘤样病变的印象。尽管这两个有趣的病例提出了诊断问题，但我们认为应该明智地进行亚历山大病的确证性基因检测；在活检组织中存在罗森塔尔纤维的情况下，对GFAP基因进行测序是不切实际的。罗森塔尔纤维存在于多种中枢神经系统的反应性和肿瘤过程中，而不仅仅是毛细胞星形细胞瘤和亚历山大病。如果有足够的组织，病理学家通常不会误解罗森塔尔纤维是如何融入病理过程的，包括亚历山大病；它的病理非常独特，除了小型活组织检查外，在所有活组织检查中都能被识别出来。然而，当组织有限，罗森塔尔纤维的存在不容易与其他组织病理学异常或临床和放射学特征相一致时，我们当然建议对亚历山大病进行补充基因检测。
To the Editor: We were pleased to read the interesting case presented by Ring et al., and like our case, it indicates the importance of considering a diagnosis of Alexander disease in patients with particularly unusual mass lesions on MRI. While our case discussed focal posterior fossa lesions in juvenile Alexander disease, this case highlights the fact that even classic, infantile Alexander disease can give the impression of tumor-like lesions.Despite the diagnostic issues raised by these two interesting cases, we believe that confirmatory genetic tests for Alexander disease should be undertaken judiciously; it is impractical to sequence the GFAP gene in every case where Rosenthal fibers are present in biopsied tissue. Rosenthal fibers are found in diverse reactive and neoplastic processes in the CNS, not just pilocytic astrocytoma and Alexander disease. Given sufficient tissue the pathologist would normally not misinterpret how Rosenthal fibers fit into a pathological process, including Alexander disease; its pathology is distinctive enough to be recognized in all but small biopsies. However, when tissue is limited and the presence of Rosenthal fibers is not be easy to reconcile with the other histopathological abnormalities or the clinical and radiological features, we would certainly recommend supplementary genetic testing for Alexander disease.