Table 1 Clinicopathologic characteristics of pancreatic cancer patients with inherited ATM pathogenic variants

From: Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants

Patient

ATM mutation (NP_000042.3)

Age

Sex

Race

Histologic subtype

Treatment

Pathologic stage

Pathologic response

Follow-up

1

p.Ser1799MetfsTer8

50–59

M

White

Ductal adenocarcinoma

Adjuvant chemotherapy and radiation therapy

pT1c pN1

N/A

Alive with disease (112 mos.)

2

Splicing

50–59

M

White

Ductal adenocarcinoma

Adjuvant chemotherapy

pT1a pN0

N/A

No evidence of disease (28 mos.)

3

p.Leu2077PhefsTer5

60–69

F

No data

Ductal adenocarcinoma

None

pT1c pN0

N/A

No evidence of disease (2 mos.)

4

p.Gln284Ter

70–79

M

White

Ductal adenocarcinoma

Adjuvant chemotherapy

pT2 pN1

N/A

Deceased of unrelated cause (69 mos.)

5

p.Lys2756Ter

<50

F

White

Ductal adenocarcinoma

Adjuvant chemotherapy and radiation therapy

pT2 pN1

N/A

Deceased of unrelated cause (149 mos.)

6

p.Ala911ArgfsTer19

60–69

M

White

Ductal adenocarcinoma

Adjuvant chemotherapy and radiation therapy

pT2 pN1

N/A

Deceased of unknown cause (60 mos.)

7

p.Met1Ile

60–69

M

White

Ductal adenocarcinoma

Adjuvant chemotherapy

pT2 pN2

N/A

Alive with disease (18 mos.)

8

Splicing

50–59

M

No data

Ductal adenocarcinoma

ND

pT2 pN2

N/A

No data

9

p.Glu522IlefsTer43

60–69

M

White

Ductal adenocarcinoma

None

pT2 pN0

N/A

No evidence of disease (4 mos.)

10

p.Gln2729Ter

70–79

F

No data

Ductal adenocarcinoma

None

pT2 pN1

N/A

No evidence of disease (4 mos.)

11

p.Phe2799LysfsTer4

<50

M

White

Colloid (mucinous non-cystic) carcinoma

No data

pT1a pN0

N/A

No data

12a

p.Glu1072Ter

60–69

F

No data

Ductal adenocarcinoma

No data

N/A

N/A

No data

13

Splicing

50–59

M

White

Colloid (mucinous non-cystic) carcinoma

None

pT3 pN2

N/A

Alive with disease (38 mos.)

14

p.Gln1970Ter

70–79

F

Other

Adenosquamous carcinoma

None

pT1c pN0

N/A

No evidence of disease (31 mos.)

15

Splicing

60–69

F

White

Ductal adenocarcinoma

Neoadjuvant chemotherapy

ypT2 ypN2

Poor

Deceased of unrelated cause (24 mos.)

16

Splicing

60–69

F

White

Ductal adenocarcinoma

Neoadjuvant chemotherapy and adjuvant chemotherapy

ypT2 ypN2

Poor

No evidence of disease (30 mos.)

17

p.Arg457Ter

70–79

F

White

Ductal adenocarcinoma

Neoadjuvant chemotherapy and adjuvant chemotherapy

ypT2 ypN2

Moderate

No evidence of disease (40 mos.)

18

p.Glu522IlefsTer43

<50

M

White

Ductal adenocarcinoma

Neoadjuvant chemotherapy, adjuvant chemotherapy and radiation therapy

ypT2 ypN2

Poor

Deceased of disease (10 mos.)

19

Splicing

70–79

F

White

Ductal adenocarcinoma

Adjuvant chemotherapy

pT2 ypN0

N/A

No evidence of disease (98 mos.)

20

p.Arg2443Ter

50–59

M

White

Ductal adenocarcinoma

Neoadjuvant chemotherapy and radiation therapy

ypT1b ypN0

Marked

Alive with disease (58 mos.)

21

p.Arg2993Ter

70–79

F

Other

Ductal adenocarcinoma

Neoadjuvant chemotherapy and adjuvant chemotherapy

ypT1c(m) ypN2

Poor

Alive with disease (32 mos.)

22

p.Glu2807Ter

50–59

F

White

Ductal adenocarcinoma

Neoadjuvant chemotherapy and adjuvant chemotherapy

ypT2 pN1

Poor

Alive with disease (61 mos.)

23

p.Tyr2791GlyfsTer14

<50

F

White

Colloid (mucinous non-cystic) carcinoma

Adjuvant chemotherapy

pT2 pN2

N/A

No evidence of disease (10 mos.)

  1. N/A not applicable
  2. aIndicates biopsy specimen