Table 5 Characteristics of 12 patients harboring compound mutations at baseline

0401

CP

I

D

N

40

V299L;

F317;

F359V

V299L/F359V (60%); V299L/F317L/F359V (3.8%);

F317L (33.4%);

F359V (3.6%)

MMR

6*

41

Loss of MMR at 36 mo.,

ongoing in CCyR

0601

CP

I

N

40

G250E;

T315I;

F317L

G250E/F317L (79.1%);

G250E (7.9%); T315I (17.5%);

MR^4.5

3*

47

Ongoing in MR^4.5

0705

CP

I

N

50

T315I; F359V

T315I/F359V (7.1%);

T315I (73.0%);

F359V (10.4%)

MMR

9**

35

Ongoing in MMR

0722

CP

I

30

K247R; G250E; Y253F;

T315I;

F359I

K247R/Y253F (55.4%);

K247R/T315I (5.5%); K247R/F359I (3.7%);

G250E (9.64%);

T315I (11.6%);

F359I (7.45%)

CHR

Progression to AP and died at 21 mo

0728

CP

I

30

T315I;

E459K

T315I/E459K (7.9%);

T315I (56.3%);

E459K (27.7%)

MMR

3**

1

Consent withdrawal because of breast cancer at 4 mo

1028

CP

I

N

D

30

L248V; T315I; F359C; E459K

T315I/E459K (6.9%);

L248V (6.51%);

T315I (13.6%);

F359C (5.26%);

E459K (59.1%);

MMR

6*

31

Ongoing in MMR

1110

CP

I

N

50

T315I; M351T; F359V

M351T/F359V (35.2%);

Y253H (5.41%);

T315I (4.57%);

M351T (8.6%);

F359V (22.6%);

CHR

Consent withdrawal at 27 mo

0701

AP

I

30

T315I;

F359C

T315I/F359C (4.7%);

T315I (24.1%);

F359V (51.4%)

MR^4.5

9**

39

Ongoing in MR^4.5

0706

AP

I

D

N

30

E255K; E279A; T315I;

F317L

E279A/T315I (4.3%);

E279A/F317L (3.4%);

E255K (47.1%);

F359C (3.09%)

CHR

Progression to AP at 6 mo., to BP at 16 mo., and died at 18 mo

0718

AP

I

D

30

T315I;

F359I

T315I/F359I (4.4%);

T315I (38.1%);

F359I (51.3%);

CHR

Ongoing in CHR

1101

AP

I

50

E255K;

T315I

E255K/T315I (2.0%);

T315I (95.1%);

MR^4.5

3**

10

Loss of MR^4.5 at 6 mo., progression to BP and died at 13 mo

1106

AP

I N

50

M244V; H396R

M244V/H396R (60.3%);

M244V (39.4%)

CHR

Ongoing in CHR