Background: Mucinous ovarian tumors are an unusual group of rare neoplasms with an apparently clear progression from benign to borderline to carcinoma, yet with a controversial cell of origin in the ovarian surface epithelium. They are thought to be molecularly distinct from other ovarian tumors but there have been no exome-level sequencing studies performed to date.
Methods: To understand the genetic etiology of mucinous ovarian tumors and assess the presence of novel therapeutic targets or pathways, we undertook exome sequencing of 24 tumors encompassing benign (5), borderline (8) and carcinoma (11) histologies and also assessed a validation cohort of 58 tumors for specific gene regions including exons 4-9 of TP53.
Results: The predominant mutational signature was of C>T transitions in a NpCpG context, indicative of deamination of methyl-cytosines. As well as mutations in known drivers (KRAS, BRAF and CDKN2A), we identified a high percentage of carcinomas with TP53 mutations (52 %), and recurrent mutations in RNF43, ELF3, GNAS, ERBB3 and KLF5.
Conclusions: The diversity of mutational targets suggests multiple routes to tumorigenesis in this heterogeneous group of tumors that is generally distinct from other ovarian subtypes.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528310 | PMC |
| http://dx.doi.org/10.1186/s13073-015-0210-y | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Onvansertib and Navitoclax Combination as a New Therapeutic Option for Mucinous Ovarian Carcinoma.
Int J Mol Sci
January 2025
Laboratory of Gynecological Preclinical Oncology, Department of Experimental Oncology, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, 20156 Milan, Italy.
Mucinous epithelial ovarian cancer (mEOC) is a rare subtype of epithelial ovarian cancer, characterized by poor responses to standard platinum-based chemotherapy. Polo-like kinase 1 (PLK1) is a key regulator of mitosis and cell cycle progression and its inhibition has been recently identified as a target in mEOC. In this study, we aimed to identify further therapeutic targets in mEOC using a CRISPR/Cas9 library targeting 3015 genes, with and without treatment with onvansertib, a PLK1 inhibitor.
View Article and Find Full Text PDFTorsion and ruptured ovarian cystadenocarcinoma with internal bleeding complicated with retroperitoneal hematoma after tumor transection: A case report.
Medicine (Baltimore)
January 2025
Department of Obstetrics and Gynecology, Minimally Invasive Gynecology Surgery Center, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
Rationale: Ovarian tumor torsion is a critical gynecological emergency, predominantly affecting women of reproductive age, with benign teratomas being the most common culprits. In contrast, malignant ovarian tumors, such as mucinous cystadenocarcinoma, infrequently present with torsion due to their invasive and angiogenic characteristics. The occurrence of torsion in malignant tumors complicates diagnosis and management, particularly when associated with complications like congestion, infarction, and internal bleeding.
View Article and Find Full Text PDFCausal role of ischemic heart disease in ovarian cancer subtypes.
Discov Oncol
January 2025
Department of Cardiovascular Medicine, Jiu Jiang NO.1 People's Hospital, Jiujiang, 332000, China.
Background: Ischemic heart disease (IHD) may share biological mechanisms with cancer, including ovarian cancer, through pathways such as chronic inflammation and oxidative stress. However, the relationship between IHD and ovarian cancer subtypes remains unclear. This study used Mendelian randomization (MR) to explore potential causal associations.
View Article and Find Full Text PDFGiant low-grade mucinous cystadenocarcinoma of the ovary: A case report and literature review.
Int J Surg Case Rep
January 2025
Al-Zahrawi Maternity Hospital, Damascus, Syria.
Introduction: Mucinous ovarian cancer (MOC) is a rare subtype of epithelial ovarian carcinoma, comprising 3-5 % of all ovarian cancer cases. It typically affects women aged 20 to 50 years and is often diagnosed at an early stage, with most patients presenting with early-stage disease. However, giant mucinous cystadenocarcinomas are extremely rare and pose significant diagnostic and therapeutic challenges.
View Article and Find Full Text PDFUnveiling a Large Pelvic Mass in a Middle-Aged Woman: The Consequences of Neglected Gynecological Care.
Cureus
December 2024
Obstetrics and Gynecology, Cape Fear Valley Health, Fayetteville, USA.
Pelvic masses in women can originate from both gynecological and non-gynecological sources, necessitating careful evaluation to ensure appropriate treatment. Gynecological masses can range from functional ovarian cysts and tubo-ovarian abscesses to malignant and benign tumors. This case report presents a mucinous borderline ovarian tumor (BOT), a rare type of ovarian neoplasm.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!