Določanje mutacij v genih BRCA 1/2 iz citološkega materiala pri raku jajčnikov, jajcevodov in primarnem peritonealnem seroznem raku

doktorska disertacija

Andreja Gornjec (Author), Erik Škof (Mentor), Marko Hočevar (Co-mentor)

Abstract

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.

Keywords

visoko maligni serozni rak jajčnikov;BRCA1/2 mutacija;testiranje BRCA mutacij;citološki vzorec;Ginekologija;Disertacije;Bolezni jajčnikov;Onkologija;Rak;Serozni rak jajčnikov;Diagnostika;Histopatologija;Molekularna genetika;Mutacije;BRCA gen;

Data

Language:	Slovenian
Year of publishing:	2020
Typology:	2.08 - Doctoral Dissertation
Organization:	UM MF - Faculty of Medicine
Publisher:	A. Gornjec]
UDC:	618.11/.12-006:577.21(043.3)
COBISS:	22760195
Views:	560
Downloads:	49
Average score:	0 (0 votes)
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Other data

Secondary language:	English
Secondary title:	BRCA1/2 mutation testing from cytological samples in patients with ovarian, tubal and primary peritoneal serous cancer
Secondary abstract:	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.
Secondary keywords:	high-grade serous cancer;BRCA1/2 mutation;BRCA1/2 mutation testing;cytological samples;
Type (COBISS):	Dissertation
Thesis comment:	Univ. v Maribru, Medicinska fak.
Pages:	98 f.
ID:	11120827