Radiologic-pathologic association of tumor‐like lesions with inflammation in cerebral white matter: Comparison of two cases with distinct clinical outcomes

Radiologic-pathologic association of tumor‐like lesions with inflammation in cerebral white matter: Comparison of two cases with distinct clinical outcomes
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肿瘤样病变与脑白质炎症的放射病理学关联:具有不同临床结果的两个病例的比较

DOI:
10.1111/neup.12766
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发表时间:
2021
期刊:
影响因子:
2.3
通讯作者:
Hashimoto Naoya
Hashimoto Naoya
中科院分区:
医学4区
文献类型:
--
作者:
Shishido‐Hara Yukiko;Akazawa Kentaro;Takeuchi Hayato;Hirato Junko;Konishi Eiichi;Yamada Kei;Itoh Kyoko;Hashimoto Naoya

文献摘要

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在这里,我们报告了两例显示肿瘤样白色病变的病例;一例被诊断为炎症性疾病,另一例被诊断为星形细胞瘤。尽管病理学相似,但其结局完全不同。活检前,进行灌注计算机断层扫描(CT)和磁共振成像(MRI)。CT和MRI显示两个肿块形成病变的水肿水平和血管分布模式不同。然而,脑活检标本的病理学检查显示了共性,包括(1)神经胶质细胞增殖,(2)血管周围淋巴细胞浸润,和(3)大量巨噬细胞的出现。虽然在这两种情况下,非典型星形胶质细胞增殖,核增生是更明显的情况下2比1。两例病例的免疫组化结果相同:异柠檬酸脱氢酶1(IDH 1)R132 H突变为阴性,α地中海贫血智力低下X连锁(ATRX)保留。在少数神经胶质细胞中观察到微弱的p53免疫反应性,Ki-67免疫反应性细胞数量显著减少(< 1%)。在这两种情况下,炎症反应是明显的:T细胞占主导地位的浸润超过B细胞在血管周围区域的情况1,而T和B细胞浸润的情况2。分子分析在两种情况下均显示野生型IDH 1和IDH 2。然而,端粒酶逆转录酶(TERT)序列突变的情况下2,但没有在案件1检测。最终,病例1被诊断为炎性病变,而病例2被诊断为弥漫性星形细胞瘤伴炎症反应。病例1预后良好,而病例2在活检后10个月死亡。这些数据表明了分子分析的诊断价值,例如,与放射学结果相关的TERT突变。尽管在病例2中,组织病理学证据并未提示高级别胶质瘤,但该病例符合新的诊断标准:根据cIMPACT‐NOW,更新3,“弥漫性星形细胞胶质瘤,IDH野生型,具有胶质母细胞瘤的分子特征,世界卫生组织(WHO)IV级”。因此,跨学科的方法是必不可少的新分类的白色疾病的准确诊断。
Here, we report two cases showing tumor‐like white matter lesions; one case was diagnosed as having inflammatory disease, and the other was diagnosed as having astrocytoma. Their outcomes were completely distinct despite similar pathology. Prior to biopsy, perfusion computed tomography (CT) and magnetic resonance imaging (MRI) were conducted. The two mass‐forming lesions were distinct in edema level and vascularity patterns on CT and MRI. However, pathological examination of brain biopsy specimens revealed commonalities, including (1) proliferation of glial cells, (2) perivascular lymphocytic infiltration, and (3) appearance of numerous macrophages. Although atypical astrocytes proliferated in both cases, nuclear atypia was more distinct in case 2 than in case 1. The immunohistochemical results were the same for both cases: isocitrate dehydrogenase 1 (IDH1) R132H mutation was negative, and alpha thalassaemia mental retardation X‐linked (ATRX) was retained. Faint immunoreactivity for p53 was observed in a few glial cells, and Ki‐67 immunoreactive cells were markedly reduced in numbers (< 1%). Inflammatory reactions were evident in both cases: T cells dominantly infiltrated over B cells in the perivascular area in case 1, whereas both T and B cells infiltrated in case 2. Molecular analysis revealed wild‐type IDH1 and IDH2 in both cases. However, a telomerase reverse transcriptase (TERT) sequence mutation was detected in case 2 but not in case 1. Eventually, case 1 was diagnosed as having inflammatory lesions, whereas case 2 was diagnosed as having diffuse astrocytoma associated with inflammatory reactions. The prognosis was favorable for case 1, whereas case 2 died 10 months following biopsy. These data indicated the diagnostic value of molecular analysis, for example, a TERT mutation, in association with the radiological findings. Although in case 2, histopathological evidence did not suggest high‐grade glioma, the case met the new diagnostic criteria: “diffuse astrocytic glioma, IDH wild‐type, with molecular features of glioblastoma, World Health Organization (WHO) grade IV,” according to cIMPACT‐NOW, update 3. Thus, interdisciplinary approaches are essential for accurate diagnosis of newly categorized white matter diseases.