TERT Promoter Mutation Analysis to Distinguish Glioma From Gliosis.

Hewer, Ekkehard; Phour, Jaison; Gutt-Will, Marielena; Schucht, Philippe; Dettmer, Matthias S; Vassella, Erik (2020). TERT Promoter Mutation Analysis to Distinguish Glioma From Gliosis. Journal of neuropathology and experimental neurology, 79(4), pp. 430-436. Oxford University Press 10.1093/jnen/nlaa004

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Among the most challenging diagnostic issues in surgical neuropathology is the distinction between scant infiltration by diffuse gliomas and reactive gliosis. The best documented ancillary marker to establish a definitive diagnosis of glioma in this setting is the identification of hotspot mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes, which is limited, however, by the low prevalence of these mutations in gliomas of elderly adults. Since telomerase reverse transcriptase (TERT) promoter mutations are present in the vast majority of IDH-wildtype diffuse gliomas, we hypothesized that combined analysis of IDH and TERT might overcome these limitations. For this purpose, we analyzed a series of non-neoplastic and neoplastic CNS samples for the prevalence of TERT hotspot mutations. TERT mutations were identified in none out of 58 (0%) reactive gliosis samples, and in 91 out of 117 (78%) IDH-wildtype gliomas. Based on a series of 200 consecutive diffuse gliomas, we found that IDH mutation analysis alone had a sensitivity of 28% (63% and 12%, respectively, in patients below and above age of 50) for detection of gliomas, whereas a combined analysis of IDH and TERT was 85% sensitive (87% and 84%, respectively, below and above age of 50). In sum, our findings suggest that TERT promoter mutation analysis contributes favorably to a molecular panel in cases equivocal for glioma versus gliosis on morphological grounds, especially in patients above age of 50, in which IDH analysis alone performs poorly.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Service Sector > Institute of Pathology > Tumour Pathology
04 Faculty of Medicine > Service Sector > Institute of Pathology
04 Faculty of Medicine > Service Sector > Institute of Pathology > Clinical Pathology
04 Faculty of Medicine > Service Sector > Institute of Pathology > Cytopathology
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurosurgery
04 Faculty of Medicine > Service Sector > Institute of Pathology > Immunopathology

UniBE Contributor:

Hewer, Ekkehard; Phour, Jaison; Gutt-Will, Marielena Margarethe; Schucht, Philippe; Dettmer, Matthias and Vassella, Erik

Subjects:

500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

1554-6578

Publisher:

Oxford University Press

Language:

English

Submitter:

Ekkehard Hewer

Date Deposited:

04 Mar 2020 10:51

Last Modified:

25 Mar 2020 09:48

Publisher DOI:

10.1093/jnen/nlaa004

PubMed ID:

32068851

Uncontrolled Keywords:

Glioma Gliosis Isocitrate dehydrogenase Telomerase reverse transcriptase

BORIS DOI:

10.7892/boris.140737

URI:

https://boris.unibe.ch/id/eprint/140737

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