The mutational landscape and prognostic indicators of pseudomyxoma peritonei originating from the ovary

Abstract

Pseudomyxoma peritonei (PMP) is a rare disorder with unique pathological and genetic changes. Although several studies have reported the clinical features and mutational changes of PMP that originates from the appendix, few studies on PMP originating from the ovary have been reported due to its extreme rarity. In order to characterize the somatic mutational landscape and to investigate the prognosis predicting factors of ovary‐originating PMP, we examined 830 cases of PMP and identified 16 patients with PMP that originated from the ovary. Whole‐exome sequencing (WES) was performed on 12 cases using formalin‐fixed, paraffin‐embedded (FFPE) tissue samples. We found that 25% (3/12) of the patients carried mutations in cancer driver genes, including TP53, ATM and SETD2, and 16.7% (2/12) of the patients carried mutations in cancer driver genes, including ATRX, EP300, FGFR2, KRAS, NOCR1 and RB1. The MUC16 (58.33%), BSN (41.67%), PCNT (41.67%), PPP2R5A (41.67%), PRSS36 (41.67%), PTPRK (41.67%) and SBF1 (41.67%) genes presented the highest mutational frequencies. The PI3K‐Akt signaling pathway, human papillomavirus infection pathway, cell skeleton, cell adhesion, and extracellular matrix and membrane proteins were the major pathways or functions that were affected. Patients were followed up to 174 months (median: 48.26 months). The 5‐year OS rate for all patients was 71.2% and the median OS was not reached. PTPRK mutations, presurgical CA199 level, completeness of cytoreduction (CCR) and peritoneal cancer index (PCI) were identified as potential predictive factors for patient survival. In conclusion, the mutational landscape for ovary‐originating PMP was revealed and exhibited unique features distinct from appendix‐originating PMP. PTPRK, CA199, CCR and PCI may predict patient survival.

Accidental discovery of appendiceal carcinoma in gynecological surgery: A case report and literature review

“…C.PABLO et al revealed that tumor markers CEA and CA199 have high value in clinical application in diagnosis of mucous adenocarcinoma of appendix, and the increasing CA125 while normal HE4 help discriminate between benign and malignant ovarian tumors [1,2]. The patient reported here had elevation of CA199 and CA125, which is of certain value in diagnosis of appendiceal lesions [3]. Michelle Moh et al combined immunohistochemistry to report common SATB (-), SATB2 (+) and CDX-2 (+) in ovarian mucinous tumors, highly indicative of the tumor being derived from the colon or the appendix [2].…”

Accidental discovery of appendiceal carcinoma during gynecological surgery: A case report

“…Moreover, the increasing level of CA125 while maintaining normal HE4 helps discriminate between benign and malignant ovarian tumors. Our patient showed elevated CA199 and CA125 levels, which can help diagnose appendiceal lesions[ 5 ]. Moh M used immunohistochemistry to identify SATB (-) in ovarian mucinous tumors.…”

Rapid recurrence of a ruptured mucinous borderline ovarian tumor harboring K-RAS mutation followed by progression into anaplastic carcinoma with TP53 mutation

“…Additionally, a recent study from Wang et al. revealed the mutational landscape of ovary-originating PMP as well as the potential factors that could be used to predict patient survival [ 19 ]. They observed that each PMP patient carried at least one cancer driver gene with mutations, and most patients carried multiple driver genes with mutations.…”