P53 and PIK3CA Mutations in KRAS/HER2 Negative Ovarian Intestinal-Type Mucinous Carcinoma Associated with Mature Teratoma

Abstract

Primary ovarian intestinal-type mucinous carcinomas associated with mature teratoma are rare and represent less than 3% of all primary ovarian neoplasms. The molecular profile of these tumors is still controversial. We report here the first case of mucinous ovarian tumor in which mutation of the PIK3CA and P53 genes could be demonstrated by the next generation sequencing technique without KRAS mutation or HER2 amplification. Our data suggest that these mucinous carcinoma variants probably present an extremely complex molecular biology profile that should be known in the future to stratify therapeutic outcomes and potential targeted therapies, particularly in recurrent disease.

Invasive ductal carcinoma arising in borderline phyllode tumor: A potential role of PIK3CA mutation

“…4 ). By immunohistochemistry, as we have previously described, the tumoral cells were positive for hormone receptors (ER and PR), negative for HER2 and the Ki-67 index was estimated at about 5–10% [7] , [8] , [9] . The surgical resection margins were free and the sentinel lymph node was negative for malignancy.…”

“…After the dissection of in one part the carcinomatous component and in the other part the atypical stromal component, gene mutations testing has been performed by next generation sequencing (NGS), as we have previously validated, with a panel of 16 genes [7] , [8] , [9] . The E542K (exon 9) mutation of the PIK3CA gene was demonstrated both in the carcinomatous and the atypical stromal components.…”

Recent Advances in Classification and Histopathological Diagnosis of Ovarian Epithelial Malignant Tumours

“…Other less frequently mutated genes in MOCs are PIK3CA, PTEN, BRAF, CTNNB1/APC (regulators of the β-catenin/Wnt signal transduction pathway), RNF43 and ARID1A (8-12%) [107]. About 34% of OMCs have neither KRAS nor HER2 gene alterations and are considered to be neoplasms arising from mature cystic teratomas and correlated with an increased risk of recurrence and poor clinical outcome [119]. OMCs with high number of genomic aberrations and mutational burden are associated with high grade and unfavourable prognosis [107].…”