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Title:Uspešno genetsko testiranje 59 let starega vzorca tkiva : pomen arhivskih vzorcev pri opredeljevanju dednih predispozicij za razvoj raka
Authors:ID Šetrajčič Dragoš, Vita (Author)
ID Stegel, Vida (Author)
ID Blatnik, Olga (Author)
ID Krajc, Mateja (Author)
ID Blatnik, Ana (Author)
Files:.pdf PDF - Presentation file, download (676,07 KB)
MD5: E24AE5051CB068E00935505F4E836DBB
 
Language:Slovenian
Typology:1.04 - Professional Article
Organization:Logo OI - Institute of Oncology
Abstract:Predstavljamo uspešno genetsko analizo 59 let starega, arhivskega, v formalinu fiksiranega in v parafin vklopljenega (FFPE) vzorca tkiva z namenom opredelitve dedne predispozicije za razvoj raka. V družinah z obremenilno družinsko anamnezo raka, kjer ključni oboleli sorodniki niso več živi, je povednost standardnega genetskega testiranja živih družinskih članov pogosto omejena. V predstavljenem primeru je bila iz tumorskega vzorca, odvzetega leta 1960, izolirana DNA in izvedeno sekvenciranje naslednje generacije (NGS). Kljub starosti vzorca so bili doseženi vsi parametri kakovosti za zanesljivo molekularno-genetsko analizo. Ugotovljena je bila patogena različica CHEK2:c. 1100del p.(Thr367Metfs*15), povezana s povečano ogroženostjo za razvoj raka dojk. Družinsko testiranje je omogočilo natančnejšo opredelitev ogroženosti pri živih sorodnikih in ustreznejše preventivne usmeritve. Opisani primer poudarja klinično vrednost analize arhivskih FFPE vzorcev pri genetski obravnavi družin s sumom na dedno nagnjenost k raku ter odpira vprašanje pomena dolgoročne hrambe reprezentativnega histološkega materiala za diagnostične, preventivne in raziskovalne namene.
Keywords:arhivski histološki preparati, sekvenciranje naslednje generacije, genetsko testiranje, dedne predispozicije za razvoj raka
Publication status:Published
Publication version:Version of Record
Publication date:01.06.2026
Publisher:Onkološki inštitut
Year of publishing:2026
Number of pages:str. 72-76
Numbering:Letn. 30, št. 1
Source:Ljubljana
PID:20.500.12556/DiRROS-31388 New window
UDC:616-07
ISSN on article:1408-1741
COBISS.SI-ID:286177539 New window
Copyright:by Authors
Publication date in DiRROS:31.07.2026
Views:23
Downloads:17
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Record is a part of a journal

Title:Onkologija
Shortened title:Onkologija
Publisher:Onkološki inštitut
ISSN:1408-1741
COBISS.SI-ID:65324032 New window

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

Language:English
Title:Successful genetic testing of a 59-year-old tissue sample : the significance of archival samples in determining hereditary cancer predisposition
Abstract:We present a successful genetic analysis of a 59-year-old archival formalin-fixed, paraffin-embedded (FFPE) tissue sample used to assess hereditary cancer predisposition. In families with a strong history of cancer in which key affected relatives are deceased, standard germline testing in living family members may prove uninformative. Archival tumour material may therefore represent an important source of genetic information. In the case presented here, DNA was extracted from a tumour sample collected in 1960 and analysed using next-generation sequencing (NGS). Despite the advanced age of the specimen, all quality criteria required for reliable molecular genetic analysis were fulfilled. A pathogenic variant, CHEK2:c.1100del .(Thr367Metfs*15), associated with an increased risk of breast cancer, was identified. Subsequent cascade testing enabled a more accurate assessment of cancer risk among living relatives and supported appropriate preventive recommendations. This case demonstrates the clinical utility of archival FFPE tissue samples in the genetic evaluation of families with suspected hereditary cancer predisposition. It also highlights the importance of long-term preservation of epresentative histological material for diagnostic, preventive, and research purposes.


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