Molecular characteristics of tubo-ovarian carcinosarcoma at different anatomic locations.

Autor: Davidson B; Department of Pathology, Norwegian Radium Hospital, Oslo University Hospital, Montebello, N-0310, Oslo, Norway. bend@medisin.uio.no.; Faculty of Medicine, University of Oslo, Institute of Clinical Medicine, N-0316, Oslo, Norway. bend@medisin.uio.no., Holth A; Department of Pathology, Norwegian Radium Hospital, Oslo University Hospital, Montebello, N-0310, Oslo, Norway., Lindemann K; Faculty of Medicine, University of Oslo, Institute of Clinical Medicine, N-0316, Oslo, Norway.; Department of Gynecologic Oncology, Norwegian Radium Hospital, Oslo University Hospital, Montebello, N-0310, Oslo, Norway., Zahl Eriksson AG; Faculty of Medicine, University of Oslo, Institute of Clinical Medicine, N-0316, Oslo, Norway.; Department of Gynecologic Oncology, Norwegian Radium Hospital, Oslo University Hospital, Montebello, N-0310, Oslo, Norway., Nilsen TA; Department of Tumor Biology, Norwegian Radium Hospital, Oslo University Hospital, Montebello, N-0310, Oslo, Norway., Torgunrud A; Department of Tumor Biology, Norwegian Radium Hospital, Oslo University Hospital, Montebello, N-0310, Oslo, Norway.
Jazyk: angličtina
Zdroj: Virchows Archiv : an international journal of pathology [Virchows Arch] 2024 Dec; Vol. 485 (6), pp. 1053-1061. Date of Electronic Publication: 2024 May 11.
DOI: 10.1007/s00428-024-03821-9
Abstrakt: Carcinosarcoma (CS) is an uncommon and clinically aggressive malignancy. The objective of the present study was to characterize the molecular features of CS at various anatomic locations, including serous effusions. Specimens (n = 32) consisted of 25 biopsies/surgical resection specimens and 7 serous effusions (6 peritoneal, 1 pleural) from 25 patients. Fresh-frozen cell pellets and surgical specimens underwent targeted next-generation sequencing covering 50 unique genes. A total of 31 mutations were found in 25 of the 32 tumors studied, of which 1 had 3 mutations, 4 had 2 different mutations, and 20 had a single mutation. The most common mutations were in TP53 (n = 25 in 24 tumors; 1 tumor with 2 different mutations), with less common mutations found in RB1 (n = 2), MET (n = 1), KRAS (n = 1), PTEN (n = 1), and KIT (n = 1). Patient-matched specimens harbored the same TP53 mutation. Tumors with no detected mutations were more common in serous effusion specimens (3/7; 43%) compared with surgical specimens (4/25; 16%). In conclusion, the molecular landscape of CS is dominated by TP53 mutations, reinforcing the observation that the majority of these tumors develop from high-grade serous carcinoma. Whether CS cells in serous effusions differ from their counterparts in solid lesions remains uncertain.
Competing Interests: Declarations. Ethics approval: Study approval was given by the Regional Committee for Medical Research Ethics in Norway (S-04300). Informed consent: Informed consent was obtained according to national and institutional guidelines. Conflict of interest: The authors declare no competing interests.
(© 2024. The Author(s).)
Databáze: MEDLINE
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