Abstract:
:We report four cases of high-grade astrocytoma with a BRAF V600E mutation, ATRX inactivation, and CDKN2A/B homozygous 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. A BRAF V600E mutation and homozygous deletion of CDKN2A/B were observed, which is similar to the genetic features of PXA or epithelioid glioblastoma, but the additional loss of ATRX nuclear immunoreactivity and absence of TERT promoter 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 with BRAF V600E, ATRX, and CDKN2A/B alternations had unique clinicopathological features and may be a novel subset of high grade glioma.
journal_name
Brain Tumor Patholjournal_title
Brain tumor pathologyauthors
Murakami C,Yoshida Y,Yamazaki T,Yamazaki A,Nakata S,Hokama Y,Ishiuchi S,Akimoto J,Shishido-Hara Y,Yoshimoto Y,Matsumura N,Nobusawa S,Ikota H,Yokoo Hdoi
10.1007/s10014-019-00344-zsubject
Has Abstractpub_date
2019-07-01 00:00:00pages
103-111issue
3eissn
1433-7398issn
1861-387Xpii
10.1007/s10014-019-00344-zjournal_volume
36pub_type
杂志文章abstract::The matrix metalloproteinase (MMP) family members catalyze extracellular proteolysis. Recent reports have suggested that expression of MMP-2 and -9 might play a critical role in neoplastic tissue invasion or metastasis. In this study, the relationship between the expression of MMP-2 and -9 and the histological feature...
journal_title:Brain tumor pathology
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journal_title:Brain tumor pathology
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pub_type: 杂志文章
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doi:10.1007/s10014-013-0158-9
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更新日期:2016-07-01 00:00:00
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journal_title:Brain tumor pathology
pub_type: 杂志文章
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journal_title:Brain tumor pathology
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journal_title:Brain tumor pathology
pub_type: 杂志文章,评审
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