Endoscopic biopsy interpretation difficulties in a congenital diffuse intracranial teratoma
Endoscopic biopsy interpretation difficulties in a congenital diffuse intracranial teratoma
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DOI：
10.1007/s00381-004-1088-y
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发表时间：
2006-01-01
影响因子：
1.4
通讯作者：
Oi, S
中科院分区：
文献类型：
--
作者：
Di Rocco, F;Nonaka, Y;Oi, S
前言：先天性脑瘤是一种罕见的肿瘤，现在通常在怀孕期间通过超声波(US)和磁共振(MR)识别出来。尽管确诊通常是通过组织学研究来实现的，但在某些情况下，由于这类肿瘤的畸形起源，诊断可能仍然不确定。病例报告：我们描述了一位通过宫内超声和胎儿MR诊断为弥漫性先天性颅内肿块的患者，以进一步评估病变和相关的胎儿脑积水。剖宫产后，进行内窥镜活检。获得了几个标本，结果诊断为原始神经外胚层肿瘤(PNET)。尽管进行了多种化疗，肿瘤仍在继续扩大，患者在2个月大时死亡。尸检显示颅内肿块为弥漫性畸胎瘤。结论：内窥镜活检标本检查导致的诊断不能被尸检所证实。畸胎瘤成分的稀有分化及其在组织形态上的高度变异性以及巨大的肿瘤肿块可能会限制对内窥镜活检标本的解释，即使是从不同区域获得的多个畸胎瘤组织标本也是如此。
Introduction: Congenital brain tumours are a rare entity that is nowadays often already recognised during pregnancy by ultrasound (US) and magnetic resonance (MR). Even though the definitive diagnosis is usually achieved by means of histological studies, in some cases the diagnosis may remain uncertain because of the malformative origin of this type of tumour. Case report: We describe a patient with a diffuse congenital intracranial mass diagnosed by intrauterine US and foetal MR performed to further evaluate the lesion and the associated foetal hydrocephalus. After delivery by caesarean section, an endoscopic biopsy was performed. Several specimens were obtained and resulted in the diagnosis of primitive neuroectodermal tumour (PNET). Despite polychemotherapy, the tumour continued to enlarge and the patient died at 2 months of age. Post-mortem histological examination of the intracranial mass showed a diffuse intracranial teratoma. Conclusion: Endoscopic biopsy specimen examination resulted in a diagnosis that was not confirmed by post-mortem findings. The scarce differentiation of teratoma components and their high variability in histomorphology as well as the huge size of the tumoral mass may limit the interpretation of endoscopic biopsy specimens, even when multiple and obtained from different areas.