Table 2

Summary of critical genetic changes in ovarian clear cell carcinoma

GeneChangesPathways affectedReferences
ARID1AMutation in approximately 50%SWI/SNF chromatin remodeling complex39–44 48 51 54 55 127 128
ARID1BMutation in 6%–18%SWI/SNF chromatin remodeling complex41 42 48 51
SMARCA4Mutation in 5%–18%SWI/SNF chromatin remodeling complex41 48 49
PIK3CAMutation in approximately 50%PI3K/AKT39 41–46 48 51 54 55 127 128
PIK3R1Mutation 7%–10%PI3K/AKT41–43 48 51 127 128
AKT2Amplification in 8%–26%PI3K/AKT41 44 58 128
PTENMutation in 2%–13%PI3K/AKT41–44 49 127 128
KRASMutation in 4.7%–20%MAPK39 41–45 48 51 54 55 127 128
PPP2R1AMutation in 4.1%–20%MAPK39 42–44 48 51 57 128
ERBB2Mutation and amplification in 2%–13%MAPK41 44 49 54 55 128
METAmplification in 24%–37%MAPK58 59
TP53Mutation in 8.5%–21.6%DNA repair43–45 49 51 55 127–129
TERT promoterMutation in 5%–16%TERT61 62 130
ZNF217Amplification in 20%–36%ZNF21765 68 69
  • Based on Mabuchi et al.131

  • AKT2, AKT serine/threonine kinase 2; ARID1A, AT-rich interactive domain 1A; ARID1B, AT-rich interactive domain 1B; ERBB2, erb-b2 receptor tyrosine kinase 2; GTPase, PPP2R1A, protein phosphatase 2 scaffold subunit A; KRAS, KRAS proto-oncogene; MET, MET proto-oncogene, receptor tyrosine kinase; PI3K, phosphatidylinositol 3-kinase; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; PIK3R1, phosphoinositide-3-kinase regulatory subunit 1; PTEN, phosphatase and tensin homolog; SMARCA4, SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4; SWI/SNF, switch/sucrose non-fermentable; TERT, telomerase reverse transcriptase; ZNF217, zinc finger protein 217.