Pathology Units, Department of Molecular and Translational Medicine, University of Brescia, Italy.
Neuroradiology, Spedali Civili of Brescia, Italy.
Pathologica. 2021 Aug;113(4):294-299. doi: 10.32074/1591-951X-177.
We report a challenging autopsy case with an insidious clinical presentation with diffuse lepto- and pachymeningeal enhancement in a context of a complex clinical history. Clinical features, neuroradiological and anamnestic data were consistent with central nervous system (CNS) dissemination of a previously known lambda restricted multiple myeloma. Autoptic findings allowed to discard this hypothesis. Unexpectedly, CNS sampling revealed an atypical glial cell proliferation within the sacral meningeal layers. No primary intraparenchymal CNS glial lesion was found. Findings supported the final diagnosis of anaplastic astrocytoma IDH1-wild type of the medullary cone with diffuse leptomeningeal and cerebrospinal fluid (CSF) dissemination. This occurrence represents an extremely rare condition itself, further complicated by the clinical history of the patient that led to formulate the most probable diagnosis of localization of the primary known disease. This autopsy case underlines that patients previously diagnosed with a primary tumor are not only at risk of recurrences or progression of the original disease, but they must be always accurately checked for eventual onset of a second tumor, including rare conditions such as gliomatosis.
我们报告了一例具有挑战性的尸检病例,其临床表现隐匿,伴有弥漫性脑和脊髓脑膜增强,同时伴有复杂的临床病史。临床特征、神经影像学和病史数据与先前已知的 lambda 限制性多发性骨髓瘤的中枢神经系统(CNS)播散一致。尸检结果排除了这一假说。出乎意料的是,中枢神经系统取样显示骶膜层内存在非典型胶质细胞增生。未发现原发性脑实质 CNS 神经胶质病变。这些发现支持终末诊断为脊髓圆锥弥漫性软脑膜和脑脊液(CSF)播散的间变性星形细胞瘤 IDH1 野生型。这种情况本身就极为罕见,再加上患者的临床病史,导致最可能的诊断为原发性已知疾病的定位。这个尸检病例强调,以前被诊断为原发性肿瘤的患者不仅有复发或原有疾病进展的风险,而且必须始终准确检查是否发生第二肿瘤,包括罕见情况如神经胶质瘤病。