https://m2.mtmt.hu/ hun 2026-09-20 21:08 JournalArticle 35428040 VALIDATED true 0 false 2026-06-16T17:43:18.715+0000 2025-04-11T07:56:53.918+0000 2024-10-01T06:46:20.510+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin true 10062250 2024-11-04T12:39:54.667+0000 2024-11-04T12:39:54.667+0000 2024-10-01T06:46:27.759+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin true 10062250 Admin 10003134 /api/admin/10003134 Wolf György true 10003134 true Admin 10067876 /api/admin/10067876 Ladányi Gusztáv true true 2024-10-17T16:14:31.681+0000 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 Nagy, Zsófia Flóra Case report: Comprehensive clinical, pathological and genetic investigations to decipher the background of cyclic thrombocytopenia true true /api/journal/1035680 REVIEWED true false 1035680 false 1035680 true 1219-4956 1532-2807 Journal FOREIGN_AND_HUNGARIAN 30 1611914 1611914 8 2024 Cyclic thrombocytopenia (CTP) is a rare disease characterized by the oscillations seen in the platelet count of the patients. The pathomechanism of the disease is poorly understood, several pathological processes have been implied in the background of CTP. In our current study, we aimed to thoroughly investigate the case of a 41-year-old female patient with a 22-year history of CTP. Wide-ranging laboratory testing, histological analyses and genetic investigations were carried out to investigate all the defects and alterations of physiological pathways described in the background of CTP to date. Bone marrow biopsy showed normal hemopoiesis with the abundance of megakaryocytes, some of which displayed hypolobulated nuclei. T-cell receptor rearrangement studies showed a polyclonal pattern with no indication of a monoclonal cell population. Flow cytometric assessment of the platelets revealed large number of immature platelets and decreased expression of glycoprotein IIb and IIIa at platelet zenith. Increased expression of glycoprotein IIb, IIIa and glycoprotein Ib-IX complex was observed at the nadir of the cycle. Whole exome sequencing revealed a heterozygous missense variant of uncertain significance in the SERPINC1 gene, which has been associated with hereditary antithrombin deficiency. The screening of autoantibodies did not reveal signs of autoreactive processes, and no thyroid dysfunction was found. Furthermore, synchronization with the menstrual cycle could not be concluded based on our patient’s case. With our results we contribute to the very limited data known about the long-term course of the disease and provide valuable insights into the genetic architecture of CTP. Funding 2044862 /api/funding/2044862 false true Funding 2044863 /api/funding/2044863 false true Funding 2044864 /api/funding/2044864 false true true true 2024 true true true false true false GOLD 2026-06-16 true https://doi.org/10.3389/pore.2024.1611914 1 0 1 1 0 1 1 0 0 0 0 0 0 1 0 0 1 1 1 1 0 0 0 Folyóiratcikk Journal Article 24 1 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 1 1 1 1 Q2 false false false false 2024-09-30T06:46:27.603+0000 Belgyógyászati és Onkológiai Klinika (SE / AOK / K); HCEMM-SE Molekuláris Onkohematológiai Kutatócso... (SE / AOK / I / PKRI); Laboratóriumi Medicina Intézet (DE / ÁOK); Patológiai és Kísérleti Rákkutató Intézet (SE / AOK / I) 8 30 4 8 0 true 10003134 10067876 Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 120712501 /api/authorship/120712501 1 0.125 true false true Author 10065771 /api/author/10065771 Nagy Zsófia Flóra true true Nagy Zsófia Flóra true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 120712502 /api/authorship/120712502 2 0.125 false false false Author 10053042 /api/author/10053042 Árvai Kristóf true 10053042 true Árvai Kristóf true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 120712503 /api/authorship/120712503 3 0.125 false false false Author 10012016 /api/author/10012016 Lakatos Péter true 10012016 true Lakatos Péter true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 120712504 /api/authorship/120712504 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false Author 10005206 /api/author/10005206 Demeter Judit true 10005206 true Demeter Judit true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 27566082 /api/publicationidentifier/27566082 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3389/pore.2024.1611914 https://doi.org/10.3389/pore.2024.1611914 false true PublicationIdentifier 27683778 /api/publicationidentifier/27683778 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001330358200001 https://www.webofscience.com/wos/woscc/full-record/001330358200001 true true PublicationIdentifier 27683779 /api/publicationidentifier/27683779 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 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/api/reference/58330249 13 10.1002/ajh.20375 false true Reference 58330250 /api/reference/58330250 14 10.1046/j.1365-2141.2002.03951.x false true Reference 58330251 /api/reference/58330251 15 10.1007/s00277-002-0580-2 false true Reference 58330252 /api/reference/58330252 16 10.3109/10428190109097749 false true Reference 58330253 /api/reference/58330253 17 10.1038/srep10576 false true Reference 58330254 /api/reference/58330254 18 10.1016/0300-9084(90)90123-X false true Reference 58330255 /api/reference/58330255 19 10.1042/BJ20050299 false true /api/publication/35428040 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10065771"><a href="/gui2/?type=authors&mode=browse&sel=10065771" target="_blank">Nagy Zsófia Flóra ✉ (<span class="authorship-author-name">Nagy Zsófia Flóra</span> <span class="authorAux-mtmt"> genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10053042"><a href="/gui2/?type=authors&mode=browse&sel=10053042" target="_blank">Árvai Kristóf (<span class="authorship-author-name">Árvai Kristóf</span> <span class="authorAux-mtmt"> molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10012016"><a href="/gui2/?type=authors&mode=browse&sel=10012016" target="_blank">Lakatos Péter (<span class="authorship-author-name">Lakatos Péter</span> <span class="authorAux-mtmt"> Osteológia, endokrinológia, molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10072957"><a href="/gui2/?type=authors&mode=browse&sel=10072957" target="_blank">Debreceni Ildikó Beke (<span class="authorship-author-name">Bekéné Debreceni Ildikó</span> <span class="authorAux-mtmt"> trombózis és hemosztázis</span>) </a> </span> <span class="author-affil"><span title="Debreceni Egyetem">DE</span>/<span title="Általános Orvostudományi Kar">ÁOK</span>/Laboratóriumi Medicina Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10035852"><a href="/gui2/?type=authors&mode=browse&sel=10035852" target="_blank">Szili Balázs (<span class="authorship-author-name">Szili Balázs</span> <span class="authorAux-mtmt"> belgyógyászat, endokrinológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024010"><a href="/gui2/?type=authors&mode=browse&sel=10024010" target="_blank">Istenes Ildikó (<span class="authorship-author-name">Istenes Ildikó</span> <span class="authorAux-mtmt"> Belgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Belgyógyászati és Onkológiai Klinika</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 Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Patológiai és Kísérleti Rákkutató Intézet">PKRI</span>/HCEMM-SE Molekuláris Onkohematológiai Kutatócsoport; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10005206"><a href="/gui2/?type=authors&mode=browse&sel=10005206" target="_blank">Demeter Judit (<span class="authorship-author-name">Demeter Judit</span> <span class="authorAux-mtmt"> Hematológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Belgyógyászati és Onkológiai Klinika</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;35428040" target="_blank">Case report: Comprehensive clinical, pathological and genetic investigations to decipher the background of cyclic thrombocytopenia</a></div> <div> <span class="journal-title">PATHOLOGY AND ONCOLOGY RESEARCH</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1219-4956">1219-4956</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1532-2807">1532-2807</a>)</span>: <span class="journal-volume">30</span> <span class="page"> Paper 1611914. 8 p. </span> <span class="year">(2024)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3389/pore.2024.1611914" target="_blank" href="https://doi.org/10.3389/pore.2024.1611914"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001330358200001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001330358200001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85206280806" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85206280806"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="39403403" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39403403&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Oncology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Pathology and Forensic Medicine&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Cancer Research&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q3</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 1</span> | Független: 1 | Függő: 0 | Nem jelölt: 0 | DOI jelölt:&nbsp;1 </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 35428040</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> HCEMM(739593) Támogató: Horizon 2020, (NKFIH K21-137948) Támogató: OTKA, (TKP2021-EGA-24) </div> <div class="lastModified">Utolsó módosítás: 2025.04.11. 09:56 Reményiné Kállai Zsuzsa (DE admin 4) </div> <div class="lockedBy">Központi kezelésű 2024.10.17. 18:14 Wolf György (MTMT Központi admin) Ladányi Gusztáv (MTMT API user, admin) </div> </div></div>