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001-es BibID:	BIBFORM106881
035-os BibID:	(cikkazonosító)100040 (Scopus)85148085127 (WoS)000982550100001
Első szerző:	Dundr, Pavel
Cím:	Primary Mucinous Tumors of the Ovary : An Interobserver Reproducibility and Detailed Molecular Study Reveals Significant Overlap Between Diagnostic Categories / Dundr Pavel, Bártu Michaela, Bosse Tjalling, Bui Quang Hiep, Cibula David, Drozenová Jana, Fabian Pavel, Fadare Oluwole, Hausnerová Jitka, Hojny Jan, Hájková Nikola, Jaksa Radek, Laco Jan, Lax Sigurd F., Matej Radoslav, Méhes Gábor, Michálková Romana, Safanda Adam, Nemejcová Kristyna, Singh Naveena, Stolnicu Simona, Svajdler Marián, Zima Tomás, Struzinská Ivana, McCluggage W. Glenn
Dátum:	2023
ISSN:	0893-3952
Megjegyzések:	Primary ovarian mucinous tumors represent a heterogeneous group of neoplasms, and their diagnosis may be challenging. We analyzed 124 primary ovarian mucinous tumors originally diagnosed as mucinous borderline tumors (MBTs) or mucinous carcinomas (MCs), with an emphasis on interobserver diagnostic agreement and the potential for diagnostic support by molecular profiling using a next-generation sequencing targeted panel of 727 DNA and 147 RNA genes. Fourteen experienced pathologists independently assigned a diagnosis from preset options, based on a review of a single digitized slide from each tumor. After excluding 1 outlier participant, there was a moderate agreement in diagnosing the 124 cases when divided into 3 categories (k= 0.524, for mucinous cystadenoma vs MBT vs MC). A perfect agreement for the distinction between mucinous cystadenoma/MBT as a combined category and MC was found in only 36.3% of the cases. Differentiating between MBTs and MCs with expansile invasion was particularly problematic. After a reclassification of the tumors into near-consensus diagnostic categories on the basis of the initial participant results, a comparison of molecular findings between the MBT and MC groups did not show major and unequivocal differences between MBTs and MCs or between MCs with expansile vs infiltrative pattern of invasion. In contrast, HER2 overexpression or amplification was found only in 5.3% of MBTs and in 35.3% of all MCs and in 45% of MCs with expansile invasion. Overall, HER2 alterations, including mutations, were found in 42.2% of MCs. KRAS mutations were found in 65.5% and PIK3CA mutations in 6% of MCs. In summary, although the diagnostic criteria are well-described, diagnostic agreement among our large group of experienced gynecologic pathologists was only moderate. Diagnostic categories showed a molecular overlap. Nonetheless, molecular profiling may prove to be therapeutically beneficial in advanced-stage, recurrent, or metastatic MCs.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Modern Pathology. - 36 : 1 (2023), p. 1-14. -
További szerzők:	Bártủ, Michaela Bosse, Tjalling Bui, Quang Hiep Cibula, David Drozenová, Jana Fabian, Pavel Fadare, Oluwole Hausnerová, Jitka Hojny, Jan Hájková, Nikola Jaksa, Radek Laco, Jan Lax, Sigurd F. Matej, Radoslav Méhes Gábor (1966-) (patológus) Michálková, Romana Safanda, Adam Nĕmejcová, Kristýna Singh, Naveena Stolnicu, Simona Svajdler, Marián Zima Tomás Struzinská, Ivana McCluggage, W. Glenn
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001-es BibID:	BIBFORM042387
Első szerző:	Lázár Viktória (molekuláris biológus)
Cím:	Characterization of candidate gene copy number alterations in the 11q13 region along with BRAF and NRAS mutations in human melanoma / Lázár Viktória, Ecsedi Szilvia, Szöllősi Attila G., Tóth Réka, Vízkeleti Laura, Rákosy Zsuzsa, Bégány Ágnes, Ádány Róza, Balázs Margit
Dátum:	2009
ISSN:	0893-3952
Megjegyzések:	Amplification of the 11q13 chromosomal region is a common event in primary melanomas. Several candidategenes are localized at this sequence; however, their role in melanoma has not been clearly defined. The aim ofthis study was to develop an accurate method for determining the amplification pattern of six candidate genesthat map to this amplicon core and to elucidate the possible relationship between BRAF, NRAS mutations andCCND1 copy number alterations, all of which are key components of the MAP kinase pathway. Characterizationof gene copy numbers was performed by quantitative PCR and, as an alternative method, fluorescence in situhybridization was used to define the CCND1 amplification pattern at the single cell level. Samples with amplifiedCCND1 (32%) were further analyzed for copy number alterations for the TAOS1, FGF3, FGF19, FGF4 and EMS1genes. Coamplification of the CCND1 and TAOS1 was present in 15% of tumors and was more frequent inulcerated lesions (P?0.017). Furthermore, 56% of primary melanomas had either BRAF or NRAS mutations, butthese two mutations were not present in any of the lesions analyzed. Of these cases, 34% also had CCND1amplification. There was a significant relationship between NRAS activating mutations and UV exposure(P?0.005). We did not find correlations between CCND1 gene amplification status and any of the patients'clinicopathological parameters. However, CCND1 amplification simultaneously with either BRAF or NRASactivation mutations was observed mainly in primary tumors with ulcerated surfaces (P?0.028). We assumethat coamplification of these candidate genes in the 11q13 region or CCND1 gene alterations along with eitherBRAF or NRAS mutations might be more important for prognosis than the presence of these alterations alone.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban melanoma 11q13 amplicon core CCND1 gene amplification TAOS1 BRAF NRAS egyetemen (Magyarországon) készült közlemény
Megjelenés:	Modern Pathology. - 22 : 10 (2009), p. 1367-1378. -
További szerzők:	Ecsedi Szilvia (1982-) (molekuláris biológus, genetikus) Szöllősi Attila Gábor (1982-) (élettanász) Tóth Réka Vízkeleti Laura (1984-) (molekuláris biológus, genetikus) Rákosy Zsuzsa (1978-) (sejtbiológus, molekuláris biológus, genetikus) Bégány Ágnes (1954-2011) (bőrgyógyász, kozmetológus, klinikai onkológus) Ádány Róza (1952-) (megelőző orvostan és népegészségtan szakorvos) Balázs Margit (1952-) (sejtbiológus, molekuláris genetikus)
Pályázati támogatás:	T04875 OTKA K75191 OTKA NKFP1-00003/2005 Egyéb
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