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001-es BibID:	BIBFORM120196
035-os BibID:	(Scopus)85189985181
Első szerző:	Bedekovics Judit (orvos)
Cím:	Exploring p53 protein expression and its link to TP53 mutation in myelodysplasia-related malignancies - Interpretive challenges and potential field of applications / Judit Bedekovics, Kristóf Madarász, Attila Mokánszki, Sarolta Molnár, Ágnes Mester, Zsófia Miltényi, Gábor Méhes
Dátum:	2024
ISSN:	0309-0167
Megjegyzések:	Aims: TP53 alterations have a significant prognostic effect in myeloid neoplasms. Our objective was to investigate the TP53 gene mutation status, p53 protein expression and their relationship in dysplasia-related myeloid neoplasms with varying levels of myeloblast counts. Methods and results: A total of 76 bone marrow biopsy samples with different blast counts were analysed. Total and strong (3+) p53 expression was determined. Dual immunohistochemical staining was performed to determine the cell population associated with p53 expression. NGS analysis was performed using the Accel-Amplicon Comprehensive TP53 panel. Both p53 expression and TP53 VAF showed a significant correlation with the myeloblast ratio (P?<?0.0001); however, p53 expression was also present in other cell lineages. The VAF value exhibited a significant correlation with p53 expression. A high specificity (0.9800) was observed for TP53 mutation using the ??10% strong (3+) p53 cut-off value, although the sensitivity (0.4231) was low. Conclusions: Strong (3+) p53 expression using a ??10% cut-off value accurately predicts TP53 mutation but does not reveal the allelic state. The p53 expression is significantly influenced by myeloblast count, and histological interpretation should consider the presence of intermixed non-neoplastic marrow cells with varying physiological p53 expression.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk bone marrow myeloblast myelodysplasia p53 expression TP53 mutation
Megjelenés:	Histopathology. - [Epub ahead of print] (2024). -
További szerzők:	Madarász Kristóf (1996-) (biológus) Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató) Deliné Molnár Sarolta (1990-) (patológus) Mester Ágnes Miltényi Zsófia (1975-) (belgyógyász, haematológus) Méhes Gábor (1966-) (patológus)
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001-es BibID:	BIBFORM108258
035-os BibID:	(cikkazonosító)898 (Scopus)85147780412
Első szerző:	Chang Chien, Yi-Che (pathológus)
Cím:	Molecular Identification and In Silico Protein Analysis of a Novel BCOR-CLGN Gene Fusion in Intrathoracic BCOR-Rearranged Sarcoma / Chang Chien Yi-Che, Madarász Kristóf, Csoma Szilvia Lilla, Mótyán János András, Huang Hsuan-Ying, Méhes Gábor, Mokánszki Attila
Dátum:	2023
ISSN:	2072-6694
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Cancers. - 15 : 3 (2023), p. 1-17. -
További szerzők:	Madarász Kristóf (1996-) (biológus) Csoma Szilvia Lilla (1994-) (Klinikai laboratóriumi kutató) Mótyán János András (1981-) (biokémikus, molekuláris biológus) Huang, Hsuan-Ying Méhes Gábor (1966-) (patológus) Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató)
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001-es BibID:	BIBFORM115627
035-os BibID:	(cikkazonosító)5141 (wos)001103294600001 (scopus)85176506719
Első szerző:	Csoma Szilvia Lilla (Klinikai laboratóriumi kutató)
Cím:	Correlation Analyses between Histological Staging and Molecular Alterations in Tumor-Derived and Cell-Free DNA of Early-Stage Primary Cutaneous Melanoma / Csoma Szilvia Lilla, Madarász Kristóf, Chang Chien Yi Che, Emri Gabriella, Bedekovics Judit, Méhes Gábor, Mokánszki Attila
Dátum:	2023
ISSN:	2072-6694
Megjegyzések:	Primary cutaneous melanoma (PCM) is a highly aggressive and potentially lethal form of skin neoplasm with a rapidly increasing incidence rate worldwide. The most common genetic aberration in PCM is the BRAF gene p.V600E pathogenic variant. The use of liquid biopsy (LB), which is a non-invasive, low-risk procedure that can be repeated multiple times, is becoming increasingly important in precision oncology. Because of the limited information about the applicability of LB in melanoma, here we investigate the correlation analyses and statistical significance between histopathological staging and molecular alterations in tumor-derived and cell-free DNA. The Breslow depth (BD) and Clark level were applied to categorize the study population. A positive correlation was proven between the tumor depth and peripheral blood plasma cfDNA yield in all mutant and negative cases. This observation is also supported by the fact that a statistically significantly higher concentration of cfDNA can be isolated from Clark V category cases compared to the others. Here, we investigate the correlation and statistical analyses between histological staging and molecular alterations in tumor-derived (tdDNA) and cell-free DNA (cfDNA) obtained from early-stage primary cutaneous melanoma (PCM) patients using digital PCR (dPCR) for the detection of the BRAF p.V600E somatic pathogenic variant. In the prospective study, a total of 68 plasma and paired tdDNA samples, and in the retrospective cohort, a total of 100 tdDNA samples were analyzed using dPCR and reverse hybridization StripAssay. The Breslow depth (BD) and Clark level were applied to categorize the study population. Our results demonstrate that dPCR is a highly sensitive and specific method for the detection of BRAF p.V600E somatic variants in cfDNA samples from PCM patients. A strong correlation was detected between BD and cfDNA concentration in all mutant and negative cases, between the tdDNA concentration and the tumor-derived variant allele frequency (VAF) of BRAF p.V600E, between the tdVAF and the cfVAF in all cases, and between the cfDNA and cfVAF in mutant cases. The tdVAF and cfVAF of BRAF p.V600E and cfDNA concentration were the highest in Clark's V category. The cfDNA concentration was statistically significantly higher in Clark's III, IV, and V groups compared to cases with a better prognosis. It can also be explained by the fact that cases with a more advanced stage classification release more cfDNA into the peripheral circulation.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Cancers. - 15 : 21 (2023), p. 1-13. -
További szerzők:	Madarász Kristóf (1996-) (biológus) Chang Chien, Yi-Che (1975-) (pathológus) Emri Gabriella (1972-) (bőrgyógyász, allergológus, onkológus) Bedekovics Judit (1986-) (orvos) Méhes Gábor (1966-) (patológus) Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató)
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001-es BibID:	BIBFORM104619
035-os BibID:	(cikkazonosító)3475 (WoS)000883850300001 (Scopus)85141641121
Első szerző:	Madarász Kristóf (biológus)
Cím:	Deep Molecular and In Silico Protein Analysis of p53 Alteration in Myelodysplastic Neoplasia and Acute Myeloid Leukemia / Madarász Kristóf, Mótyán János András, Bedekovics Judit, Miltényi Zsófia, Ujfalusi Anikó, Méhes Gábor, Mokánszki Attila
Dátum:	2022
ISSN:	2073-4409
Megjegyzések:	Background: Mutation of the TP53 gene is one of the major drivers of myelodysplastic neoplasias (MDS) and acute myeloid leukemia with myelodysplasia-related changes (AML-MR). TP53 mutations present in these hematopoietic malignancies form a distinct molecular genetic cluster with a worse prognosis than without the alteration. However, besides well-characterized hot-spot variants, a significant proportion of TP53 alterations are of uncertain clinical significance. Methods: To enlighten so far unknown aspects, bone-marrow samples from altogether 77 patients are analyzed retrospectively with the diagnosis of AML-MR (26 cases), MDS-IB (12 cases), and MDS-LB (39 cases) according to WHO 2022 guidelines. Next-generation sequencing results are correlated with histological, cytogenetic, and survival data. Results: Twenty out of the 30 TP53 mutation types detected by NGS are not categorized in current public databases; thus, their clinical significance remained mysterious. Because of the interpretation difficulties and the absence of clinical correlations, pathogenicity is established based on in silico approaches. The 12 pathogenicity classification systems, as well as protein stability, protein?DNA, protein?protein interaction, and post-translational modification analyses are applied. We found statistically significant differences between AML/MDS groups considering p53 pathogenicity, protein structural changes, and overall survival. The largest number of abnormalities with the most severe consequences are found in AML-MR cases. Conclusions: These molecular and in silico protein data further support that MDS with increased-blast (MDS-IB) is an intermediate group between AML-MR and MDS with low-blast (MDS-LB) patients, which frequently progresses to AML and is therefore considered a pre-leukemic condition.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk in silico bioinformatic analysis next-generation sequencing (NGS) p53 protein TP53 gene acute myeloid leukemia (AML) myelodysplastic neoplasias (MDS)
Megjelenés:	Cells. - 11 : 21 (2022), p. 1-23. -
További szerzők:	Mótyán János András (1981-) (biokémikus, molekuláris biológus) Bedekovics Judit (1986-) (orvos) Miltényi Zsófia (1975-) (belgyógyász, haematológus) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Méhes Gábor (1966-) (patológus) Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató)
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