Department of Pathology and Neuropathology, Medical University of Gdańsk and Department of Pathomorphology, Copernicus PL Hospitals, Gdańsk, Poland.
Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Gdańsk, Poland.
Biomed Res Int. 2018 Apr 1;2018:4596812. doi: 10.1155/2018/4596812. eCollection 2018.
This study presents a unique series of malignant supratentorial gliomas in children previously cured from non-CNS primary cancer. On neuroimaging these tumors were not specific, so the patients were suspected of cerebral recurrence of their primary neoplasm: leukemia in four children and sarcoma in one child. Histologically, the group contained four glioblastomas and one anaplastic astrocytoma. Three patients underwent neurosurgical resection, while the other two underwent stereotactic diagnostic biopsy only. Despite combined oncological treatment, four children died during 20 months, and only one glioblastoma patient continued to live for another twelve years. Microscopically, the neoplasms consisted of small cells with some morphologic features of astrocytic lineage, having scanty or prominent processes. Microvascular proliferation and focal or diffuse necrosis were encountered in four cases. The GFAP reactivity in neoplastic cells was low or nil, together with the expression of Olig2, vimentin, and nestin. In two cases a subpopulation of synaptophysin-positive cells was present. Molecular immunohistochemical profiling revealed the expression of phosphorylated forms of PI3Kp110 and AKT, in parallel to a strong PTEN and p53 positivity. The tumors were of IDH1R132H-wild type and immunoreactive for ATRX, HER3, and EGFR. Secondary malignant gliomas in pediatric cancer survivors pose a diagnostic challenge. The present study shows that these tumors are of IDH wild type, PI3K/AKT-activated, having no PTEN and EGFR mutations. Therefore, the biopsy of brain tumors in such patients is crucial both for accurate diagnosis and material preservation for molecular typing.
本研究呈现了一组独特的儿童幕上恶性胶质瘤病例,这些患儿曾患有非中枢神经系统(CNS)原发性癌症且已治愈。神经影像学检查显示这些肿瘤不具有特异性,因此这些患者被怀疑为其原发性肿瘤的脑复发:4 例为白血病,1 例为肉瘤。组织学上,该组包含 4 例胶质母细胞瘤和 1 例间变性星形细胞瘤。3 名患者接受了神经外科切除术,而另外 2 名仅接受了立体定向诊断性活检。尽管进行了联合肿瘤治疗,但仍有 4 名患儿在 20 个月内死亡,仅 1 例胶质母细胞瘤患者继续存活了 12 年。显微镜下,这些肿瘤由具有星形细胞谱系某些形态特征的小细胞组成,细胞突起稀少或明显。4 例肿瘤中均存在微血管增生和局灶或弥漫性坏死。肿瘤细胞中 GFAP 反应性低或缺失,同时表达 Olig2、波形蛋白和巢蛋白。在 2 例肿瘤中存在突触素阳性细胞亚群。分子免疫组化分析显示磷酸化形式的 PI3Kp110 和 AKT 表达平行于强烈的 PTEN 和 p53 阳性。肿瘤为 IDH1R132H 野生型,免疫反应性为 ATRX、HER3 和 EGFR。儿童癌症幸存者的继发性恶性胶质瘤具有诊断挑战性。本研究表明,这些肿瘤为 IDH 野生型,PI3K/AKT 激活,无 PTEN 和 EGFR 突变。因此,对这些患者的脑肿瘤进行活检对于准确诊断和保存分子分型都至关重要。