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 |
Abbreviations: ALK anaplastic lymphoma kinase, CDX2 caudal-related homeobox 2, CK7 cytokeratonin-7, CK20 cytokeratonin-20, DFS disease-free survival, EGFR epidermal growth factor receptor, IHC immunohistochemistry, KRAS Kirsten rat sarcoma viral oncogene homolog, MUC1 mucin 1, MUC2 mucin 2, MUC5AC mucin 5A, MUC6 mucin 6, NA non available, NEG negative, PEAC primary pulmonary enteric adenocarcinoma, POS positive, TTF-1 thyroid transcription factor, pTNM pathological tumor-node-metastasis