Mutations in ovarian cancer

Question 1

Mutations associated with histologic subtypes of ovarian cancer

• High-grade serous
• Low-grade serous
• Endometrioid
• Clear cell
• Mucinous

Answer 1

Mutations associated with histologic subtypes of ovarian cancer

• High-grade serous - TP53 is near universal (97%); BRCA1/2 loss is frequent
• Low-grade serous - BRAF and KRAS
• Endometrioid - PTEN, CTNNB1, PIK3CA and ARID1A
• Clear cell - PIK3CA and ARID1A
• Mucinous - KRAS and HER2 amplifications

Question 2

Presentation and Histologic features of the subtypes of ovarian cancer

• High-grade serous
• Low-grade serous
• Endometrioid
• Clear cell
• Mucinous

Answer 2

Presentation and Histologic features of the subtypes of ovarian cancer

• High-grade serous - typically presenting at advanced stage, and most commonly showing papillary architecture
• Low-grade serous - frequently presents at advanced stage, and is defined by low-grade nuclear atypia and low mitotic activity
• Endometrioid - low stage with glandular architecture and squamous differentiation; positivity for Progesterone Receptor (PR) and Trefoil Factor 3 (TFF3)
• Clear cell - frequently presenting at low stage, is defined by an abundance of clear cells occurring in tubulocystic, papillary or solid architecture
• Mucinous - typically a low grade EOC characterised by goblet cells and intracellular mucin

Question 3

Give the percentage make up of the subtypes of ovarian cancer

• High-grade serous
• Low-grade serous
• Endometrioid
• Clear cell
• Mucinous
• Mixed

Answer 3

Give the percentage make up of the subtypes of ovarian cancer

• High-grade serous - 70%
• Low-grade serous - 2%
• Endometrioid - 10%
• Clear cell - 10%
• Mucinous - 2-4%
• Mixed - remainder