TERT promoter mutational screening as a tool to predict malignant behaviour in follicular thyroid tumours—three examples from the clinical routine

Follicular thyroid adenomas (FTAs) and carcinomas (FTCs), collectively the most common thyroid neoplasms, constitute a significant clinical challenge since histological evidence of invasive behaviour is required for a malignant diagnosis. Small subsets of FTAs relapse as manifest malignant FTCs, ind...

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Bibliographic Details
Published in:Virchows Archiv : an international journal of pathology 2018-11, Vol.473 (5), p.639-643
Main Authors: Hysek, Martin, Paulsson, Johan O., Wang, Na, Jatta, Kenbugul, Lindh, Claes, Fuentes-Martinez, Nelson, Shabo, Ivan, Zedenius, Jan, Juhlin, C. Christofer
Format: Article
Language:English
Subjects:
Brief Report
Histology
Lesions
Medical screening
Medicin och hälsovetenskap
Medicine
Medicine & Public Health
Metastases
Mutation
Neoplasms
Pathology
RNA-directed DNA polymerase
Telomerase
Telomerase reverse transcriptase
Thyroid
Thyroid cancer
Thyroid carcinoma
Thyroid gland
Tumors
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Summary:Follicular thyroid adenomas (FTAs) and carcinomas (FTCs), collectively the most common thyroid neoplasms, constitute a significant clinical challenge since histological evidence of invasive behaviour is required for a malignant diagnosis. Small subsets of FTAs relapse as manifest malignant FTCs, indicating that histology is not always adequate to predict malignant potential. Lately, recurrent mutations in the promoter of the Telomerase reverse transcriptase ( TERT ) gene have been coupled to FTCs, whereas FTAs usually lack this aberrancy. We describe three patients with follicular thyroid tumours in which TERT promoter mutational screening was employed as part of the clinical work-up to pinpoint malignant potential. In two retrospective analyses of seemingly benign lesions, the detected mutations predicted future skeletal metastases, and in one prospective case, the mutational screening led to a different clinical management of the afflicted patient. We therefore consider TERT promoter mutational screening an adjunct tool of value in equivocal cases.
ISSN:0945-6317
1432-2307
1432-2307
DOI:10.1007/s00428-018-2386-1