Table 1 Clinicopathologic characteristics of pancreatic cancer patients with inherited ATM 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.) |