20.500.12556/DKUM-73473 Določanje mutacij v genih brca1/2 iz citološkega materiala pri raku jajčnikov, jajcevodov in primarnem peritonealnem seroznem karcinomu BRCA1/2 mutation testing from cytological samples in patients with ovarian, tubal and primary peritoneal serous cancer Izhodišče Serozni rak jajčnikov je slabo ozdravljiva bolezen. Zdravljenje ponovitve bolezni je odvisno od prisotnosti BRCA1/2 mutacije, kajti samo bolnice z znano BRCA mutacijo so upravičene do zdravljenja s poli(ADP-riboza) polimeraze inhibitorji (PARPi). Namen raziskave je bil primerjava skladnosti rezultatov analize BRCA mutacij iz citoloških vzorcev (CV) v primerjavi z rezultati določanja BRCA mutacij iz histoloških s formalinom fiksiranih v parrafinu vključenih (FFPE) vzorcev. Preiskovanke in metode dela Analiza BRCA mutacij je bila narejena pri 44 bolnicah s primarnim ali ponovnim seroznim rakom visokega gradusa iz treh vzorcev: krvi, citološkega vzorca (ascites, plevralni izliv in povečana bezgavka) in iz tumorskega tkiva. Narejena je bila primerjava rezultatov vseh treh vzorcev. Rezultati Med 44 bolnicami smo dokazali 15 zarodnih in 2 somatski mutaciji. Dokazana je bila 100 skladnost rezultatov pridobljenih iz citoloških vzorcev v primerjavi z rezultati dobljenimi iz histoloških vzorcev. Zaključek Dokazali smo 100% skladnost dobljenih rezultatov določanja BRCA mutacij iz citoloških vzorcev v primerjavi z rezultati dobljenimi iz histoloških vzorcev. Pri bolnicah z rakom jajčnikov bi lahko testiranje BRCA mutacij iz CV nadomestilo testiranje BRCA mutacij iz FFPE tkiva. Background High-grade serous ovarian cancer is a detrimental disease. Treatment options in patients with a recurrent disease are dependent on BRCA1/2 mutation status since only patients with known BRCA mutation are eligible for treatment with poly(ADP-ribose) polymerase inhibitors (PARPi). The aim of this study was to compare concordance of BRCA mutation analyses from cytological samples (CS) with BRCA mutation analyses from histological formalin fixed paraffin embedded (FFPE) samples. Patients and methods Mutation analysis of BRCA1 and BRCA2 genes was performed in 44 women diagnosed with primary or recurrent high-grade ovarian cancer from three different samples: blood, cytological sample (ascites, pleural effusion and enlarged lymph nodes) and tumor tissue. Results from all three samples were compared. Results Among 44 patients, there were 15 germline mutations and two somatic mutations. A 100% concordance was found between cytological and histologic samples. Conclusion There is a 100% concordance in BRCA mutation testing between cytological and histologic samples. BRCA mutation testing from CS could replace testing from FFPE tissue in clinical decision making in ovarian cancer patients. visoko maligni serozni rak jajčnikov BRCA1/2 mutacija testiranje BRCA mutacij citološki vzorec high-grade serous cancer BRCA1/2 mutation BRCA1/2 mutation testing cytological samples true true false Slovenski jezik Angleški jezik Doktorsko delo/naloga 2019-04-24 13:28:45 2020-07-16 12:31:51 2022-08-02 00:46:45 2020-07-17 03:11:57 2020 0 Maribor 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 22760195 URN:SI:UM:DK:NXZT9I2U DOK_Gornjec_Andreja_2020.pdf DOK_Gornjec_Andreja_2020.pdf 1 A467764783A1956C92AE8A55B4FB5507 eff94928d7aee8c2637a0b20004c6ba85bc8be3774c20fcf130f806fb8995537 3e7a7a95-7c11-11eb-bb7a-00155d0001ca 20.500.12556/dkum/2cae6d80-9168-4b45-a621-79d4baf8905f https://dk.um.si/Dokument.php?lang=slv&id=140922 Medicinska fakulteta 0 0 0