ARID1A loss is prevalent in endometrial hyperplasia with atypia and low-grade endometrioid carcinomas.
Loss of ARID1A expression and its relationship with PI3K-AKT pathway alterations, TP53 and microsatellite instability in endometrial cancer.
of Gene subgroup SMGs symbol Hypermutated/ 21 PTEN microsatellite- PIK3CA unstable PIK3R1 ARID1A RPL22 KRAS ZFHX3 ARID5B CTCF CTNNB1 ATR GIGYF2 CSDE1 FGFR2 CCND1 LIMCH1 RBMX NKAP HIST1H2BD TNFAIP6 MIR1277 Copy number low/ 16 PTEN microsatellite- PIK3CA stable CTNNB1 ARID1A PIK3R1 CTCF KRAS FGFR2 CHD4 SPOP CSMD3 (b) SOX17 SGK1 BCOR MECOM METTL14 Copy number high 8 TP53 (serous-like) PIK3CA FBXW7 PPP2R1A PIK3R1 CHD4 PTEN CSMD3 (b) Molecular Gene name Somatic-mutation subgroup frequency Hypermutated/ Phosphatase and tensin homolog 87.
ARID1A mutations were identified in 57% of the 42 tumors, while 7.
The identification of the genes whose expression is specifically modulated by ARID1A inactivation will be the next crucial step in this line of research.
In the second study, investigators performed RNA sequencing on 18 ovarian clear cell carcinomas and one ovarian clear cell carcinoma cell line to identify variants in ARID1A.
ARID1A and MLH1 staining was patchy in nondysplastic and dysplastic BE, and negative surface epithelial staining was quite frequently associated with intact staining in the crypt base (Figure 3, A and B).
Clinicopathologic Correlates and Prognostic Significance of ARID1A Loss in EAC
As mentioned above, loss of ARID1A expression in EAC showed a significant association with a medullary and mucinous histology.
Additional findings include deficient ARID1A expression in up to 57% of ovarian clear cell carcinoma but not in HGSC.
On the other hand, the more recent finding of deficient ARID1A expression in endometrioid but not in serous carcinoma provided an additional marker in the differentiation of these tumors.
ARID1A mutations in endometriosis-associated ovarian carcinomas.