Találati lista | Tudóstér

001-es BibID:	BIBFORM121434
035-os BibID:	(scopus)85189947378 (WoS)001237176100001
Első szerző:	Bátai Bence
Cím:	Profiling of Copy Number Alterations Using Low-Coverage Whole-Genome Sequencing Informs Differential Diagnosis and Prognosis in Primary Cutaneous Follicle Center Lymphoma / Bátai Bence, Kiss Laura, Varga Luca, Nagy Ákos, Househam Jacob, Baker Ann-Marie, László Tamás, Udvari Anna, Horváth Róbert, Nagy Tibor, Csomor Judit, Szakonyi József, Schneider Tamás, Graham Trevor A., Alpár Donát, Fitzgibbon Jude, Szepesi Ágota, Bödör Csaba
Dátum:	2024
ISSN:	0893-3952
Megjegyzések:	Primary cutaneous follicle center lymphoma (PCFCL) has an excellent prognosis using local treatment, whereas nodal follicular lymphoma (nFL), occasionally presenting with cutaneous spread, often requires systemic therapy. Distinction of the 2 diseases based on histopathology alone might be challenging. Copy number alterations (CNAs) have scarcely been explored on a genome-wide scale in PCFCL; however, they might serve as potential biomarkers during differential diagnosis and risk stratification. Low-coverage whole-genome sequencing is a robust, high-throughput method for genome-wide copy number profiling. In this study, we analyzed 28 PCFCL samples from 20 patients and compared the copy number profiles with a cohort of diagnostic samples of 64 nFL patients. Although the copy number profile of PCFCL was similar to that of nFL, PCFCL lacked amplifications of 18q, with the frequency peaking at 18q21.33 in nFL cases involving the BCL2 locus (PCFCL: 5.0% vs nFL: 31.3%, P = .018, Fisher exact test). Development of distant cutaneous spread was significantly associated with higher genomic instability including the proportion of genome altered (0.02 vs 0.13, P = .033) and number of CNAs (2 vs 9 P = .017), as well as the enrichment of 2p22.2-p15 amplification involving REL and XPO1 (6.3% vs 60.0%, P = .005), 3q23-q24 amplification (0.0% vs 50.0%, P = .004), 6q16.1-q23.3 deletion (6.3% vs 50.0%, P = .018), and 9p21.3 deletion covering CDKN2A and CDKN2B loci (0.0% vs 40.0%, P = .014, all Fisher exact test) in PCFCL. Analysis of sequential tumor samples in 2 cases harboring an unfavorable clinical course pointed to the acquisition of 2p amplification in the earliest common progenitor underlining its pivotal role in malignant transformation. By performing genome-wide copy number profiling on the largest patient cohort to date, we identified distinctive CNA alterations conceivably facilitating the differential diagnosis of PCFCL and secondary cutaneous involvement of nFL and potentially aiding the risk stratification of patients with PCFCL in the future.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk copy number profiling cutaneous lymphoma genomics next-generation sequencing
Megjelenés:	Modern Pathology. - 37 : 5 (2024), p. 1-13. -
További szerzők:	Kiss Laura Varga Luca Nagy Ákos Househam, Jacob Baker, Ann-Marie László Tamás Udvari Anna Horváth Róbert Nagy Tibor (1988-) (vegyész) Csomor Judit Szakonyi József Schneider Tamás (onkológus) Graham, Trevor A. Alpár Donát Fitzgibbon, Jude Szepesi Ágota Bödör Csaba
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: