Table 1.
Epidemiologic, clinical, immunohistochemical (IHC), and molecular findings
| Case | Age/gender | Localization | Macroscopy | Grading/budding1 | TNM | Therapy | Follow-up | Tumor pattern2 | CK20 | CDX2 | SATB2 | CEA | MMR | CAIX |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No. 1 | 70 m | Rectum |
Polypoid 7,5 cm |
G3 (high-grade) CC and CV: 5 Buds (Bd2) |
pT2 pN0 (0/16) pM0 L0 V0 Pn0 |
Ultralow anterior recto-sigmoid resection with total meso-rectal excision | Alive 9 months after surgery, no tumor recurrence |
CC (30%) CV (70%) |
( +) ( +) |
+ + + + |
+ + + |
( +) + + |
+ + + + |
( +) ( +) |
| No. 2 | 69 m | Rectum, liver |
Polypoid 3,5 cm |
G3 (high-grade) CC and CV: 6 Buds (Bd2) |
pT3 pN2b (8/13) pM1a (HEP) L1 V0 Pn0 |
Rectum resection Resection solitary liver metastasis Chemotherapy with oxaliplatin, folinic acid, 5-FU |
Alive 12 months after therapy, no tumor recurrence |
CC (80%) CV (20%) |
+ + |
+ + + + |
─ ( +) |
( +) ( +) |
+ + + + |
( +) ( +) |
| No. 3 | 75 m | Ascending colon |
Polypoid 5,5 cm |
G2 (low-grade) CC: 0 Buds (Bd1) CV: 2 Buds (Bd1) |
pT1 (sm3) pN0 (0/21) pM0 L0 V0 Pn0 | Right hemicolectomy with MCE | Alive 6 months after therapy, no tumor recurrence |
CC (40%) CV (60%) |
+ + + + |
+ + + |
( +) + + |
( +) + + |
+ + + + |
─ ─ |
| Case | PAX8 | AFP | GPC3 | SALL4 | CD10 | CgA | Syn | CD56 | p53 | MUC1 | MUC2 | MUC5AC | Molecular findings | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No. 1 |
─ ( +) |
( +) ( +) |
( +) + |
─ ─ |
+ + + + |
( +) ( +) |
( +) ( +) |
─ ─ |
+ + + + |
( +) ( +) |
─ ─ |
─ ─ |
CC and CV: TP53 (c.794 T > C p.L265P (Exon 8)), MSS | |
| No. 2 |
─ ─ |
─ ─ |
( +) ( +) |
─ ( +) |
+ + + + |
( +) ( +) |
( +) ( +) |
( +) ( +) |
+ + + + |
( +) ( +) |
( +) ─ |
─ ─ |
CC and CV: TP53 (c.473G > A p.R158H (Exon 5) and c.818G > A p.R273H (Exon 8)), MSS |
|
| No. 3 |
─ ─ |
─ ─ |
─ ─ |
─ ─ |
─ ─ |
─ ─ |
( +) ( +) |
─ ─ |
+ + + + |
─ ─ |
( +) ─ |
( +) ─ |
CC: TP53 (c.517G > T p.V173L (Exon 5)), SMAD4 (c.1017 T > A p.F339L (Exon 9)), MSS CV: TP53 (c.517G > T p.V173L (Exon 5)), ATM (c.2546 T > C p.V849A (Exon 17)), MSS |
1Tumorbudding per 0.785 mm2 (according to ITBCC [3]); 2tumor pattern denotes the amount of CC and CV components in percentage; IHC intensities were scored as follows: + + strong specific staining in ≥ 50% of tumor cells; + faint to moderate specific staining in ≥ 50% of tumor cells; ( +) specific staining in any intensity in < 50% of tumor cells; ─ negative staining. No expression of CK7, RCC, vimentin, and MUC6 in CC and CV; MMR, mismatch repair proteins; CAIX, carboanhydrase IX; GPC3, glypican-3; CgA, chromogranin A; Syn, synaptophysin