Clinicopathological characteristics of circumscribed high-grade astrocytomas with an unusual combination of BRAF V600E, ATRX, and CDKN2A/B alternations
Clinicopathological characteristics of circumscribed high-grade astrocytomas with an unusual combination of BRAF V600E, ATRX, and CDKN2A/B alternations
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具有 BRAF V600E、ATRX 和 CDKN2A/B 交替的不寻常组合的局限性高级别星形细胞瘤的临床病理学特征
DOI：
10.1007/s10014-019-00344-z
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发表时间：
2019
影响因子：
3.3
通讯作者：
Yokoo Hideaki
中科院分区：
文献类型：
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作者：
Murakami Chiaki;Yoshida Yuka;Yamazaki Tatsuya;Yamazaki Ayako;Nakata Satoshi;Hokama Yohei;Ishiuchi Shogo;Akimoto Jiro;Shishido-Hara Yukiko;Yoshimoto Yuhei;Matsumura Nozomi;Nobusawa Sumihito;Ikota Hayato;Yokoo Hideaki
我们报告了4例伴有BRAFV 600 E突变、ATR蛋白激活和CDKN 2A/B纯合性缺失的高级别星形细胞瘤。从3-46岁的儿童到年轻人，在幕上区域出现界限清楚的对比增强肿块。病理学检查显示细胞密集生长，呈短梭形至圆形多边形，包括一些多形性细胞。肿瘤浸润邻近脑实质的能力较低，呈局限性生长模式。很容易发现有丝分裂，伴有局灶性坏死和/或微血管增生。肿瘤在组织学上部分类似于多形性黄色星形细胞瘤（PXA）或间变性PXA，但不符合任何一种肿瘤的标准。ABRAFV 600 E突变和CDKN 2A/B纯合性缺失与PXA或上皮样胶质母细胞瘤的遗传学特征相似，但ATRX核免疫反应性缺失和TERT启动子缺失是罕见的发现，提示了一种新的遗传学特征。尽管他们的恶性组织学特征，所有患者都有一个良好的临床过程，并保持生存6个月至28年的恶性胶质瘤的标准药物治疗。总之，BRAFV 600 E、ATRX和CDKN 2A/B改变的高级别星形细胞瘤具有独特的临床病理特征，可能是高级别胶质瘤的一个新的亚群。
We report four cases of high-grade astrocytoma with aBRAFV600E mutation,ATRXinactivation, andCDKN2A/Bhomozygous deletion. Children to young adults aged 3–46 presented with a well demarcated contrast-enhancing mass in the supratentorial area. Pathological examination revealed packed growth of short spindle to round polygonal cells including some pleomorphic cells. The tumors had less ability to infiltrate into the adjacent brain parenchyma and presented a circumscribed growth pattern. Mitosis was readily found, accompanied by focal necrosis and/or microvascular proliferation. Tumors were histologically similar in part to pleomorphic xanthoastrocytoma (PXA) or anaplastic PXA, but did not fit criteria for either neoplasm. ABRAFV600E mutation and homozygous deletion ofCDKN2A/Bwere observed, which is similar to the genetic features of PXA or epithelioid glioblastoma, but the additional loss of ATRX nuclear immunoreactivity and absence ofTERTpromoter mutation were unusual findings, indicating a novel genetic profile. Despite their malignant histological features, all patients had a favorable clinical course and remained alive for 6 months to 28 years under standard medical treatment for malignant glioma. In summary, high grade astrocytomas withBRAFV600E,ATRX, andCDKN2A/Balternations had unique clinicopathological features and may be a novel subset of high grade glioma.