Table 1 Demographic and disease characteristics of two patients affected by PEAC within one family. The familial aggregation of PEAC was associated with similar clinicopathological features (age at diagnosis, smoking habit, tumor localization, multiple colon polyps), histologic findings (IHC staining negative for TTF-1 and positive for CDX2), and genetic findings (KRAS(Gly12Asp) mutation but no EGFR/ALK aberrations)
Characteristic | Proband | His sister | |
|---|---|---|---|
General | |||
Age at diagnosis (years) | 68 | 71 | |
Smoking habit | Yes | Yes | |
Primary localization | Lung: right/lower lobe | Lung: right/lower lobe | |
Colonoscopy | Multiple benign polyps (N < 10), diverticulosis | Multiple benign polyps (N < 10), diverticulosis | |
Radical surgery (R0) | Yes | Yes | |
Metastases/DFS (months) | Bone/1.5 | Lung, adrenal glands/12 | |
Histological findings | Primary tumor | Bone metastasis | |
Histology | PEAC | PEAC | PEAC |
Stage (pTNM) | pT2apN1 | pT2apN0 | |
IHC analyses | |||
TTF-1 | NEG | NEG | NEG |
Napsin A | NEG | NA | NA |
CK7 | POS | NA | NEG |
CK20 | NEG | NA | POS |
CDX2 | POS | POS | POS |
MUC1 | POS | NA | NA |
MUC2 | NEG | NA | NA |
MUC5AC | POS | NA | NA |
MUC6 | NEG | NA | NA |
Microsatellite instability | MSS phenotype | NA | NA |
Genetics | |||
EGFR | Wild type | NA | Wild type |
KRAS | Gly12Asp mutation | Gly12Asp mutation | Gly12Asp mutation |
ALK | Wild type | NA | Wild type |