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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Publicado en:Virchows Archiv: European Journal of Pathology Vol. 473; no. 5; pp. 639 - 644
Autores principales: Hysek, Martin, Paulsson, Johan O., Wang, Na, Jatta, Kenbugul, Lindh, Claes, Fuentes-Martinez, Nelson, Shabo, Ivan, Zedenius, Jan, Juhlin, C. Christofer
Formato: case study Journal Article
Publicado: Springer Nature Nov2018
Acceso en línea:Ver este registro en EBSCOhost
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      pub: Springer Nature
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        10.1007/s00428-018-2386-1
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        atl: TERT promoter mutational screening as a tool to predict malignant behaviour in follicular thyroid tumours-three examples from the clinical routine.
      aug:
        au:
          Hysek, Martin
          Paulsson, Johan O.
          Wang, Na
          Jatta, Kenbugul
          Lindh, Claes
          Fuentes-Martinez, Nelson
          Shabo, Ivan
          Zedenius, Jan
          Juhlin, C. Christofer
        affil: Department of Pathology and Cytology, Karolinska University Hospital, Stockholm, Sweden
      sug:
        subj:
          Transferases
          Genetic Screening Methods
          Adenocarcinoma Pathology
          Thyroid Neoplasms Pathology
          Mutation
          Adenocarcinoma
          Aged
          Thyroid Neoplasms
          Middle Age
          Female
          Thyroid Neoplasms Diagnosis
          Adenocarcinoma Diagnosis
          Male
          Scales
          Aged: 65+ years
          Middle Aged: 45-64 years
          Female
          Male
      ab: 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.
      pubtype: Academic Journal
      doctype:
        case study
        Journal Article
      ougenre: Article
    language: English
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