Table 3.

Molecular alterations in endometrial samples taken at different time points from carriers of MMR gene germ-line mutations (groups I and II)

Patient IDGerm-line mutationEndometrial histologyTime before last samplingProtein expression by immunohistochemistryNo. unstable markers out of 3Methylated genes out of 24
Group I1MLH1 del ex16Normal13 y++cytopl.+0None
Normal11 y++(+)0None
Normal6 y+++0None
Endometrial carcinoma0++2RASSF1, CDH13
2MLH1 del ex16Normal3 y+++0APC, CDH13
+ Complex hyperplasia with atypia(+)+
Complex hyperplasia with atypia1 mo++0None
Endometrial carcinoma0++0CDH13
3MLH1 del ex16Normal3 y+++0NA
Simple hyperplasia3 mo+++0GSTP1
Endometrial carcinoma0++0None
4MLH1 del ex16Normal3 y+++0RASSF1
+ Complex hyperplasia with atypia++
Endometrial carcinoma0++0RASSF1, GSTP1, CDH13
5MSH6 c3938-3941 dupGTTANormal12 y+(+)+0CHD13
Normal2 y+++0None
Endometrial carcinoma0+NA1CDKN2B, RASSF1, CDH13
7MLH1 R659XSimple hyperplasia0.5 mo++1NA
Complex hyperplasia with atypia0.5 mo+/−+NA1NA
+ Simple hyperplasia+/−+NA
Complex hyperplasia with atypia0++2NA
Endometrial carcinoma0+/−+3PTEN, TP73, CDH13, GSTP1
8MLH1 del ex16Normal4 y+++0NA
Normal3 y++(+)0NA
Simple hyperplasia2 y++0NA
Complex hyperplasia with atypia0+(+)3RASSF1, CDH13
Endometrial carcinoma0++2CDKN2A
Group II13MLH1 R659PEndometritis chronica8 y+/−++0CDKN2B, CDH13, GSTP1
Complex hyperplasia with atypia3 mo++2TIMP3, CD44, RASSF1, CDH13
Complex hyperplasia with atypia01TIMP3, CDKN2A, PTEN, RASSF1, CDH13, GSTP1
+ Normal+++
14MLH1 R659PSimple hyperplasia1 y+++0TIMP3, GSTP1
Normal7 mo+++0CDKN2B, CDH13
15MLH1 454-1 g>aNormal2NANANA0CDH13
Simple hyperplasia0+++0ATM, CDKN2B, CDKN1B
20MLH1 del ex16Normal5 yNANANA0CDH13, GSTP1
Complex hyperplasia with atypia0.5 mo+++0APC, RASSF1, CDH13, GSTP1
+ Complex hyperplasia with atypia++
24MLH1 del ex16Normal6 y+++0RARB, PTEN, ESR1, RASSF1
Simple hyperplasia0+++0RASSF1, CDH13
Complex hyperplasia without atypia0++0RASSF1, CDH13
109MLH1Normal2 mo0ND
Complex hyperplasia without atypia2 mo1FHIT, CDH13, GSTP1
Complex hyperplasia with atypia00APC, CDH13

Abbreviations: +, positive expression; −, negative expression; (+), weak positive expression; +/−, positive and negative expression.