https://m2.mtmt.hu/ eng 2026-10-23 06:16 JournalArticle 34729974 VALIDATED true 0 false 2026-10-22T07:19:03.579+0000 2025-12-05T10:01:18.205+0000 2024-03-11T12:55:24.225+0000 true 10081340 Pirmann Tamás /api/admin/10081340 Admin true 2025-12-05T09:48:55.293+0000 2025-12-05T09:48:55.293+0000 2025-12-05T10:01:18.459+0000 true 10062062 Gere Tamásné /api/admin/10062062 Admin true 10062062 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Bátai, Bence Profiling of copy number alterations using low-coverage whole-genome sequencing informs differential diagnosis and prognosis in primary cutaneous follicle center lymphoma true true /api/journal/3245 REVIEWED true false 3245 false 3245 true 0893-3952 1530-0285 Journal FOREIGN 37 5 100465 100465 13 2024 Primary cutaneous follicle center lymphoma (PCFCL) has an excellent prognosis using local treatment, while nodal follicular lymphoma (nFL) occasionally presenting with cutaneous spread, often requires systemic therapy. Distinction of the two diseases based on histopathology alone might be challenging. Copy number alterations (CNAs) have scarcely been explored on a genome-wide scale in PCFCL, yet they might serve as potential biomarkers during differential diagnosis and risk stratification. Low-coverage whole genome sequencing (lcWGS) 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 to 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=0.018, Fisher's 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=0.033) and number of CNAs (2 vs. 9 p=0.017), as well as the enrichment of 2p22.2-p15 amplification involving REL and XPO1 (6.3% vs. 60.0%, p=0.005), 3q23-q24 amplification (0.0% vs. 50.0%, p=0.004), 6q16.1-q23.3 deletion (6.3% vs. 50.0%, p=0.018) and 9p21.3 deletion covering CDKN2A and CDKN2B loci (0.0% vs. 40.0%, p=0.014, all Fisher's exact test) in PCFCL. Analysis of sequential tumor samples in two 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. Funding 2039245 /api/funding/2039245 false true Funding 2039246 /api/funding/2039246 false true Funding 2039247 /api/funding/2039247 false true Funding 2039248 /api/funding/2039248 false true Funding 2039249 /api/funding/2039249 false true Funding 2039250 /api/funding/2039250 false true Funding 2039251 /api/funding/2039251 false true Funding 2039252 /api/funding/2039252 false true Funding 2039253 /api/funding/2039253 false true Funding 2039254 /api/funding/2039254 false true true true 2024 true true true false true false NONE 2026-10-22 false 7 0 7 6 1 7 7 6 7 7 7 6 6 6 1 0 7 6 7 6 0 4 4 Folyóiratcikk Journal Article 24 7 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2025 0 5 4 5 4 2026 0 2 2 2 2 D1 false 10008696,10025100,10076784 false false false 2024-04-23T08:57:09.170+0000 Belgyógyászati és Hematológiai Klinika (SE / AOK / K); Biokémiai és Molekuláris Biológiai Intézet (DE / ÁOK); Bőr-, Nemikórtani és Bőronkológiai Klinika (SE / AOK / K); HCEMM-SE Molekuláris Onkohematológiai Kutatócso... 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/api/author/10065374 Nagy Ákos true true Nagy Ákos true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 115662492 /api/authorship/115662492 5 0.055555556 false false false Househam Jacob true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 115662493 /api/authorship/115662493 6 0.055555556 false false false Baker Ann-Marie true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 115662494 /api/authorship/115662494 7 0.056 false false false Author 10081879 /api/author/10081879 László Tamás DUPLUM true true László Tamás true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 115662495 /api/authorship/115662495 8 0.055555556 false false false Udvari Anna true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 115662496 /api/authorship/115662496 9 0.056 false false false Author 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/api/publication/34729974 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10076784"><a href="/gui2/?type=authors&mode=browse&sel=10076784" target="_blank">Bátai Bence (<span class="authorship-author-name">Bátai Bence</span> <span class="authorAux-mtmt"> Onkohematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Belgyógyászati és Hematológiai Klinika; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Patológiai és Kísérleti Rákkutató Intézet">PKRI</span>/HCEMM-SU Molecular Oncohematology Research Group; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10098577"><a href="/gui2/?type=authors&mode=browse&sel=10098577" target="_blank">Kiss Laura (<span class="authorship-author-name">Kiss Laura</span> <span class="authorAux-mtmt"> bőrgyógyászat</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10084442"><a href="/gui2/?type=authors&mode=browse&sel=10084442" target="_blank">Varga Luca (<span class="authorship-author-name">Varga Luca Petra</span> <span class="authorAux-mtmt"> Molekuláris genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Patológiai és Kísérleti Rákkutató Intézet">PKRI</span>/HCEMM-SU Molecular Oncohematology Research Group; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10065374"><a href="/gui2/?type=authors&mode=browse&sel=10065374" target="_blank">Nagy Ákos (<span class="authorship-author-name">Nagy Ákos</span> <span class="authorAux-mtmt"> hematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Belgyógyászati és Hematológiai Klinika; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Patológiai és Kísérleti Rákkutató Intézet">PKRI</span>/HCEMM-SU Molecular Oncohematology Research Group; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Househam Jacob </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Baker Ann-Marie </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10081879"><a href="/gui2/?type=authors&mode=browse&sel=10081879" target="_blank">László Tamás (<span class="authorship-author-name">László Tamás</span> <span class="authorAux-mtmt"> Molekuláris onkohematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Patológiai és Kísérleti Rákkutató Intézet">PKRI</span>/HCEMM-SU Molecular Oncohematology Research Group; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Udvari Anna </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10094480"><a href="/gui2/?type=authors&mode=browse&sel=10094480" target="_blank">Horváth Róbert (<span class="authorship-author-name">Horváth Róbert</span> <span class="authorAux-mtmt"> hematológia, molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Patológiai és Kísérleti Rákkutató Intézet">PKRI</span>/HCEMM-SU Molecular Oncohematology Research Group; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10035070"><a href="/gui2/?type=authors&mode=browse&sel=10035070" target="_blank">Nagy Tibor (<span class="authorship-author-name">Nagy Tibor</span> <span class="authorAux-mtmt"> Bioinformatika</span>) </a> </span> <span class="author-affil"><span title="University of Debrecen">UD</span>/<span title="Faculty of Medicine">Faculty of Medicine</span>/Department of Biochemistry and Molecular Biology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025101"><a href="/gui2/?type=authors&mode=browse&sel=10025101" target="_blank">Csomor Judit (<span class="authorship-author-name">Csomor Judit</span> <span class="authorAux-mtmt"> Hematopatológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10054933"><a href="/gui2/?type=authors&mode=browse&sel=10054933" target="_blank">Szakonyi József (<span class="authorship-author-name">Szakonyi József</span> <span class="authorAux-mtmt"> Bőrgyógyászat , Sugárterápia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Dermatology, Dermatooncology and Venerology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10058585"><a href="/gui2/?type=authors&mode=browse&sel=10058585" target="_blank">Schneider Tamás (<span class="authorship-author-name">Schneider Tamás</span> <span class="authorAux-mtmt"> hematológia, onkológia, belgyógyászat</span>) </a> </span> <span class="author-affil">National Institute of Oncology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Graham Trevor A </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10018054"><a href="/gui2/?type=authors&mode=browse&sel=10018054" target="_blank">Alpár Donát (<span class="authorship-author-name">Alpár Donát</span> <span class="authorAux-mtmt"> Molekuláris pathológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Patológiai és Kísérleti Rákkutató Intézet">PKRI</span>/HCEMM-SU Molecular Oncohematology Research Group; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Fitzgibbon Jude </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10008696"><a href="/gui2/?type=authors&mode=browse&sel=10008696" target="_blank">Szepesi Ágota<sup>**</sup> ✉ (<span class="authorship-author-name">Szepesi Ágota</span> <span class="authorAux-mtmt"> Pathológia, hematopathológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025100"><a href="/gui2/?type=authors&mode=browse&sel=10025100" target="_blank">Bödör Csaba ✉ (<span class="authorship-author-name">Bödör Csaba</span> <span class="authorAux-mtmt"> Molekuláris Onkohematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Patológiai és Kísérleti Rákkutató Intézet">PKRI</span>/HCEMM-SU Molecular Oncohematology Research Group; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34729974" target="_blank">Profiling of copy number alterations using low-coverage whole-genome sequencing informs differential diagnosis and prognosis in primary cutaneous follicle center lymphoma</a></div> <div> <span class="journal-title">MODERN PATHOLOGY</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0893-3952">0893-3952</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1530-0285">1530-0285</a>)</span>: <span class="journal-volume">37</span> <span class="journal-issue">5</span> <span class="page"> Paper 100465. 13 p. </span> <span class="year">(2024)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1016/j.modpat.2024.100465" target="_blank" href="https://doi.org/10.1016/j.modpat.2024.100465"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001237176100001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001237176100001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85189947378" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85189947378"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="38460675" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=38460675&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Pathology and Forensic Medicine&nbsp;&nbsp;&nbsp;Rank:&nbsp;D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 7</span> | Independent citation: 6 | Self citation: 1 | Unknown citation: 0 | Number of citations in WoS: 6 | Number of citations in Scopus:&nbsp;7 | WoS/Scopus assigned:&nbsp;7 | Number of citations with DOI:&nbsp;7 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;34729974&sort=publishedYear,desc&sort=title"> Number of cited publications: 4 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 34729974</span> | <span class="status-data status-VALIDATED"> Validated </span> Core Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (ÚNKP-22-3-II-SE-72), (ÚNKP-22-5-SE-7), (K21_137948), (TKP2021-EGA-24), János Bolyai Research Scholarship of the Hungarian Academy of Sciences(TKP2021-NVA-15), (FK20_134253), HCEMM(739593) Funder: Horizon 2020, (SE250+ Excellence Scholarship for PhD Students), Az orvos-, egészségtudományi- és gyógyszerészképzés tudományos műhelyeinek fejlesztése(EFOP-3.6.3-VEKOP-16-2017-00009) Funder: EFOP-VEKOP, (BO/125/22) </div> <div class="lastModified">Last Modified: 2025.12.05. 11:01 Tamásné Gere (SE_KK_Admin5_GT, admin) </div> </div></div>