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07.10.2016 | Original Article

In Japanese patients with papillary thyroid carcinoma, TERT promoter mutation is associated with poor prognosis, in contrast to BRAF ^V600E mutation

verfasst von: Almira Nasirden, Tsuyoshi Saito, Yuki Fukumura, Kieko Hara, Keisuke Akaike, Aiko Kurisaki-Arakawa, Miki Asahina, Atsushi Yamashita, Ran Tomomasa, Takuo Hayashi, Atsushi Arakawa, Takashi Yao

Erschienen in: Virchows Archiv | Ausgabe 6/2016

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Abstract

The prognostic value of BRAF ^V600E and TERT promoter mutation in papillary thyroid carcinoma (PTC) is controversial. We examined alterations in BRAF ^V600E and TERT promoter by PCR-direct sequencing in PTC of 144 Japanese patients. Alternative lengthening of telomeres was examined as another mechanism of telomere maintenance by immunohistochemical staining for ATRX and DAXX. Of the clinicopathological characteristics, regional lymph node metastasis, extra-thyroid extension, multifocality/intrathyroidal spread, and advanced stage (III/V) were associated with shorter disease-free survival rate (DFSR). TERT promoter mutation was found in eight patients (6 %), and this was significantly associated with total thyroidectomy, multifocality/intrathyroidal spread, lymph node metastasis and advanced stage. The BRAF ^V600E mutation was found in 53 patients (38.2 %) but was not associated with any clinicopathological factors. TERT mutations were not correlated with BRAF ^V600E mutation status. TERT mutation-positive tumors (TERT+) showed lower DFSR than BRAF ^V600E-mutation-positive tumors (BRAF ^V600E +), and TERT+/BRAF ^V600E+ tumors showed lower DFSR than BRAF ^V600E+ tumors. No cases showed loss of ATRX/DAXX expression by immunohistochemistry. TERT promoter mutations showed a lower prevalence in our series and appeared to be associated with aggressive behavior. In PTCs, telomerase activation by TERT promoter mutation might be more important than alternative lengthening of telomeres.

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Titel: In Japanese patients with papillary thyroid carcinoma, TERT promoter mutation is associated with poor prognosis, in contrast to BRAF V600E mutation
verfasst von: Almira Nasirden
Tsuyoshi Saito
Yuki Fukumura
Kieko Hara
Keisuke Akaike
Aiko Kurisaki-Arakawa
Miki Asahina
Atsushi Yamashita
Ran Tomomasa
Takuo Hayashi
Atsushi Arakawa
Takashi Yao
Publikationsdatum: 07.10.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: Virchows Archiv / Ausgabe 6/2016
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-016-2027-5

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