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横纹肌样胶质母细胞瘤在临床神经外科中非常罕见。本文报告1例横纹肌母细胞瘤，总结其临床、病理及影像学特点。

情况下

男，15岁，因头痛4天入院，8月9日伴阵发性惊厥1次^th, 2015年。4天前，本例患者无任何诱因出现连续的右侧额叶和颞叶疼痛。疼痛是隐痛，没有呕吐。那一刻病人能忍受疼痛。前两天，他曾有一次突然不自觉的四肢抽搐，并伴有抬头凝视，牙关紧闭，无法清醒，以上表现持续2 ~ 3分钟，自行缓解。他没有什么特殊的历史。神经系统检测未发现阳性迹象。头部CT(图1a)示右侧额叶不规则病灶，实性囊性征，边界不清。这个焦点的密度是不均匀的?病灶内可见点状钙化，病灶周围可见片状水肿。 Enhanced focus exhibited obviously inhomogeneous strengthening. The right lateral ventricle was slightly compressed and translocated, with middle line structure slightly left deviation. Head MRI (Figure 1b and1c) showed a mass occupying lesion residing in the right frontal lobe, with unclear boundary, turning out to be inhomogeneous and slightly longer T2, T1 signal performance. DWI phase displayed mixed signal, it could be seen patchy and long cystonecrosis of T2 and T1signal. There were patchy and long edematous zone of T2 and T1 signal. The local cerebral sulcus became shallower, the right lateral ventricle slightly got deformation and displacement, accompanied by middle line structure slightly left avertence. Following enhanced scan, the focus turned out to be obviously irregular ring strengthening, the surrounding edema was not strengthened, the size of the focus was in total 3.4cm×4.0cm×4.0cm. The preoperative diagnosis was preliminarily determined as occupying lesion of right frontal lobe, possibly glioma. On Aug 14, 2015, the patient was subjected to the operation of right frontal lobe space occupying resection. During the operation, we found that the boundary between the tumor and the surrounding tissue was unclear, the tumor had rich blood supply, the appearance of the tumor was grayish brown. It was soft, and there were some calcified nodules with slightly hard texture. The tumor was blockly resected, routine pathological examination was carried out. Morphological characteristics of microscope (Figure 1d) revealed Rhabdoid tumor like cells diffusely distributed, with nuclear bias and abundant eosinophilic patina, these cells aggregated in flakiness or showed in stripe arrangement. The tumor cells had apparent heteromorphism and nucleolus, mitotic image could be seen. There was massive necrosis found, accompanied by lymphocytic infiltration. Immunohistochemistry outcomes showedGFAP (+/-),Vimentin(+), EMA(+/-)CK(+/-)S100(+),INI-1(+),Olig2(+/-),Oct4(+/-),HMB45(-),CD1a(-), Ki-67 45%. The pathologic diagnosis is determined as Rhabdoid glioblastoma(WHO? grade) in the right frontal lobe. Two weeks post of the operation, this patient was transferred into the tumor radiotherapy department of our hospital and underwent radiotherapy, once daily, simultaneously he was subjected to chemotherapy by Amines administration. After one month’ treatment, the patient’s condition improved and discharged. Three months after the operation, MRI review indicated that tumor diffused through cerebral pia mater and a new focus of 2.1cm×2.1cm×1.6cm was found in the ipsilateral temporal lobe. This patient did not continue treatment. Finally, five months post of operation, he died because of deterioration of the condition.

图1所示。术前CT显示(a)右侧额叶见不规则实性囊性病灶，病灶内可见结节状钙化，周围有斑片状水肿。右侧脑室轻度受压移位，中线结构轻度左偏。术前头部MRI (b、c)显示右侧额叶大量占位性病变，边界不清，表现不均匀性，T2、T1信号表现稍长。病灶内可见斑片状、长条形T2、t1型胆囊坏死。T2、T1信号表现不均匀且较长，病灶周围有水肿带。增强扫描示肿瘤不规则，环形强化明显，周围水肿未强化。镜下(d):箭头表示横纹肌样肿瘤细胞有核偏倚，细胞质中含有大量弥漫性分布的嗜酸性物质。肿瘤细胞具有明显的异型性和核仁。可以看到有丝分裂图像。

讨论

2001年，Wyatt-Ashmead[1]在显微镜下发现胶质瘤具有横纹肌细胞的结构。在此基础上，他们提出了首例病例报告，并将这种疾病命名为横纹肌胶质母细胞瘤。由于报道数量较少，2016年未参与WHO中枢神经系统肿瘤的分类[2]。横纹肌样胶质母细胞瘤是一种常见于年轻患者的高度恶性肿瘤。好发部位位于额叶和颞叶，具有早期复发、脑膜轻散的特点[3-7]。横纹肌样胶质母细胞瘤的症状主要是颅内占位效应引起的颅面症状，如头痛、呕吐、视力障碍、癫痫等。横纹肌样胶质母细胞瘤MRI表现一般为T1、T2信号不均匀混合，增强后病灶呈环形强化，常伴有广泛坏死灶，偶有出血、病灶内出现囊性变性[6]。到目前为止，横纹肌样胶质母细胞瘤没有发现任何明显的影像学特征。病理方面，横纹肌样胶质母细胞瘤表现为:镜下可见肿瘤细胞呈圆形或椭圆形，胞浆富含嗜酸性粒细胞，细胞核偏差大，核仁明显。免疫组化显示该肿瘤GFAP、Vimentin阳性，局灶表达EMA、CK、i -1阳性或无特殊表达[3-8]。虽然非典型畸胎瘤/横纹肌肉瘤视野内也有横纹肌样肿瘤细胞，但ni -1表达完全缺失。 While for Rhabdoid glioblastoma, INI-1 expression is positive or special expression absence, giving concrete evidence to distinguish with above two diseases [8]. In 2016, Epithelioid glioblastoma, newly added in the CNS tumor classification of WHO shows character of rich in Eosinophilic cytoplasm, chromatin vacuoles, Epithelioid cells with large nucleolus. Parts of tumor cells have nuclear bias and para inclusion body, similar to Rhabdoid cells [2]. It has some morphological features that overlaps with those of Rhabdoid glioblastoma, but these two tumors are hard to be distinguished from each other on immunohistochemical and genetic level. Some scholars found that Epithelioid glioblastoma, unlike Rhabdoid glioblastoma, has fewer expression of immunological markers, shows INI-1 positive, without INI-1 focal expression absence [8]. Additionally, Epithelioid glioblastoma commonly accompanies by BRAF V600 mutation [2], whereas in the Rhabdoid glioblastoma, BRAF V600 is generally negative [7]. The treatment of Rhabdoid glioblastoma is commonly predominant on operation, in which the tumors are required to be totally resected. Following operation, radiotherapy and chemotherapy, serving as adjunctive therapy, would be performed. Even though the strategies above mentioned been done, it has been reported that [3-8] most cases recurred or committed Leptomeningeal spread, with poor prognosis. The mean life span of Rhabdoid glioblastoma is about 4.1 months [4]. This case in our report died five months after the operation from Leptomeningeal spread. The number of Rhabdoid glioblastoma cases is limited, based on literature retrieval, there are only 20 cases of this kind of tumor [1, 3-8]. It’s clinical diagnosis and therapeutic methods remain elucidation.

确认

本临床病例研究由云南省科技厅-昆明医科大学联合专项基金(2015FB008)资助。

参考文献

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