Role of a Promoter Mutation in the Telomerase Reverse Transcriptase Gene in Malignant Transformation of Pleomorphic Xanthoastrocytoma.

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Role of a Promoter Mutation in the Telomerase Reverse Transcriptase Gene in Malignant Transformation of Pleomorphic Xanthoastrocytoma.

World Neurosurg. 2018 Dec 29;:

Authors: Hosono J, Nitta M, Masui K, Maruyama T, Komori T, Yokoo H, Saito T, Muragaki Y, Kawamata T

Abstract
BACKGROUND: Pleomorphic xanthoastrocytoma (PXA) is categorized as "grade II, other astrocytic tumors" as per the 2016 World Health Organization (WHO) classification. Despite being a relatively benign type of tumor, PXA often has an aggressive clinical course. The more malignant form of PXA is now known as anaplastic PXA (A-PXA), and is categorized as a grade III tumor. Clinical and genetic factors associated with malignant transformation remain unclear. In particular, typical genetic expression patterns in PXA and A-PXA remain unidentified.
CASE DESCRIPTION: We present a case of recurrent PXA in which malignant transformation followed a promoter mutation in the telomerase reverse transcriptase gene (TERT). In this case, genetic chronological changes accompanying malignant transformation of PXA were thoroughly examined. The promoter mutation was detected in the second operative specimen after the stereotactic radiosurgery (SRS) at the first tumor recurrence. Subsequently, a malignant transformation to the A-PXA occurred at the time of the second recurrence and the tumor repeatedly recurred afterwards.
CONCLUSIONS: It was suggested that TERT promotor mutations may contribute to the malignant transformation of PXA; the mechanism of this mutation is unknown, but it may have been caused by SRS. Therefore, improvident use of radiation should be avoided to prevent the malignant transformation of PXA.

PMID: 30599247 [PubMed - as supplied by publisher]

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