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001-es BibID:	BIBFORM083015
035-os BibID:	(WoS)000513129500033 (Scopus)85078461475
Első szerző:	Molnár Csaba (pathológus)
Cím:	High Genetic Diversity and No Evidence of Clonal Relation in Synchronous Thyroid Carcinomas Associated with Hashimoto's Thyroiditis : a Next-Generation Sequencing Analysis / Molnár Csaba, Bádon Emese Sarolta, Mokánszki Attila, Mónus Anikó, Beke Lívia, Győry Ferenc, Nagy Endre, Méhes Gábor
Dátum:	2020
ISSN:	2075-4418
Megjegyzések:	The close association between pre-existing Hashimoto's thyroiditis and thyroid cancer is well established. The simultaneous occurrence of multiple neoplastic foci within the same organ suggests a common genotoxic effect potentially contributing to carcinogenesis, the nature of which is still not clear. Next-generation sequencing (NGS) provides a potent tool to demonstrate and compare the mutational profile of the independent neoplastic foci. Our collection of 47 cases with thyroid carcinoma and Hashimoto's thyroiditis included 14 with at least two tumorous foci. Detailed histological analysis highlighted differences in histomorphology, immunoprofile, and biological characteristics. Further, a 67-gene NGS panel was applied to demonstrate the mutational diversity of the synchronic tumors. Significant differences could be detected with a wide spectrum of pathogenic gene variants involved (ranging between 5 and 18, cutoff >5.0 variant allele frequencies (VAF)). Identical gene variants represented in both synchronous tumors of the same thyroid gland were found in only two cases (BRAF and JAK3 genes). An additional set of major driver mutations was identified at variable allele frequencies in a highly individual setup suggesting a clear clonal independence. The different BRAF statuses in coincident thyroid carcinoma foci within the same organ outline a special challenge for molecular follow-up and therapeutic decision-making.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Diagnostics. - 10 : 1 (2020), p. 1-11. -
További szerzők:	Bádon Emese Sarolta (1991-) (orvos) Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató) Mónus Anikó Beke Lívia Győry Ferenc (1969-) (kardiológus) Nagy Endre V. (1957-) (belgyógyász, endokrinológus) Méhes Gábor (1966-) (patológus)
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