Table 1 The reported cases in the literature
Author | Year | No. of cases | Gender | Age | Presentation | Location of the tumor | Differentiation/stage | Biomarker testing | Immunohistochemical analysis |
|---|---|---|---|---|---|---|---|---|---|
Sharma et al. [11] | 2012 | 1 | Female | 74 | Abdominal pain (LLQ), fatigue, intermittent diarrhea, and weight loss (15 lbs in 2 months) | Right-sided tumor; ascending colon | Undifferentiated | Microsatellite instability | Negative CDX-2, CK20, CK7, TTF-1, S-100 protein, MART1, PAX-8, chromogranin, synaptophysin, estrogen receptors, and hepatocyte-specific antigen |
Jain et al. [12] | 2014 | 1 | Female | 72 | Bleeding per rectum Abdominal cramps and loose stool | Left-sided tumor | Poorly differentiated G3 T2N0M0 | Microsatellite instability | Positive staining for MSH2 and MSH6 Loss of MLH1 and PMS2 protein expression |
Cunningham et al. [13] | 2014 | 2 | Female | 79 | Weakness, abdominal pain (RLQ), anorexia, and loss of 11 kg over 1 year | Left-sided tumor; splenic flexure | Poorly differentiated G4 T3N1M1 | Microsatellite instability | Positive: CDX-2, rare positive CK7 Negative: CK20, synaptophysin, and chromogranin KRAS wild type and loss of mismatch repair proteins (MLH1 and PMS2) |
81 | Nausea, vomiting, diarrhea, and weight loss | Left-sided tumor; splenic flexure + distal transverse colon | Poorly differentiated G2 T4N0M0 | Loss of mismatch repair proteins (MLH1 and PMS2) | |||||
Bağ et al. [14] | 2017 | 1 | Male | 72 | Abdominal pain and bleeding per rectum | Transverse colon | Moderately differentiated G2 T2N0M0 | Microsatellite instability | Negative: CK20, synaptophysin negative, chromogranin, CDX2, CD56, CEAmono, calretinin Positive: p53 (20% positive+), E-cadherin, cyclin D1 (5% nuclearexpression), CD44 (80%), KI-67 (80%), and p16 |
Martinotti et al. [15] | 2017 | 1 | Female | 44 | Acute abdominal pain | Right-sided tumor; cecum and ascending colon | Poorly differentiated Stage 3 T3N0M0 | Microsatellite instability | Positive: CK7 (focal), CAM 5.2 (focal), CKAE1/AE3 (focal), calretinin (focal), claudin 4 Negative: CK20, synaptophysin, chromogranin, CDX2, TTF-1, P63, CK5-6, CD20, CD3, CD5, CD79, MUM1, S100, ER, MART-1, EBV |
Fatima et al. [16] | 2021 | 1 | Female | 77 | Lower abdominal pain, distention, vomiting, and weight loss (10 lbs) | Right-sided tumor; cecum | Poorly differentiated | Microsatellite instability | Positive: CKAE1/AE3, GATA3, calretinin, p63, and CDX2 Negative: CK7, CK20, and SATB2 Loss of PMS2 expression with intact MSH6 expression |
Colarossi et al. [9] | 2021 | 2 | Male | 70 | Diffuse abdominal pain and weakness | Right-sided tumor; cecum and ascending colon | G2 T3N0M0 | Microsatellite instability | Positive: calretinin and membranous beta-catenin Negative: CK20, CDX2, chromogranin, and synaptophysin Loss of MLH1, PMS, and loss of ARID1A |
62 | Diffuse abdominal pain and nausea | Right-sided tumor; ileocecal | G2 T3N0M0 | Positive: calretinin Negative: CDX2, CK20 and ARID1A Loss of MLH1 and PMS2 KRAS, NRAS, and BRAF were wild type | |||||
Chen et al. [17] | 2021 | 1 | Female | 68 | NA | Right-sided tumor; ascending colon | NA | Microsatellite instability | Positive: p40 and CK5/6, but negative CDX2, CK20, and SATB2 MMR deficient with loss of MLH1 and PMS2 NGS confirmed BRAF V600E mutation |
Saikia [18] | 2023 | 1 | Female | 77 | Lower GI bleeding | Right-sided tumor; cecum | Undifferentiated G2 T3N0M0 | Microsatellite instability | Positive: CDX2 Negative: CK7, CK20 synaptophysin and chromogranin, GATA 3, and PAX8 Loss of MLH1 and PMS2 |