Table 5.
Phenotypic features of patients who did not meet criteria for MMR IHC screening or had IHC false-negative results.
| Case ID | Reference (Number) | Reason for Non-Selection by IHC Screening |
Malignancies (Age at Diagnosis) | Others (Age at Diagnosis) |
Points * |
|---|---|---|---|---|---|
| 37 | Senter [43] | Age at brain tumor diagnosis | Glioma (35) Rectum (24) Endometrial (35) | Brother: CRC (26), glioblastoma (34) Brother: Glioma (24) | 5 |
| 46 | Herkert [49] | Age at brain tumor diagnosis | GBM (34) CRC (21) Duodenal (32) Jejunal (×2) (34) | CR polyps (11) GI polyps with dysplasia (21 and 32), congenital asplenia, left isomerism, ventricle septum defect LS family |
6 |
| 84 | Levoine [59] | Age at brain tumor diagnosis | Glioblastoma (40)CRC (22 and 32) | Polyps (38) CALMs LS family | 5 |
| 89 | Levoine [59] | Age at brain tumor diagnosis | GBM (32) CRC (20)Gastric (32) | Polyps (20) | 3 |
| 90 | Levoine [59] | Age at brain tumor diagnosis | GBM (34) CRC (22 and 25) Endometrial (35) Small-bowel (36) | Polyps (22) Consanguinity LS family | 4 |
| 112 | Bush [65] | Age at brain tumor diagnosis | GBM (27) | Multiple polyps (23) CALMs Sister: 2 adenomas and 1 with high-grade dysplasia (21) breast cancer (29) LS family | 3 |
| 42 | Sjursen [46] | PMS2+ | Giant cell glioblastoma (10) CRC (20) Duodenal (26) Ileal (30 and 36) Endometrial (31) Jejunal (42) Basal cell carcinoma several times |
Polyps Sister: CRC (16)Father: Gastric cancer (64) | 4 |
| 7 | Menko [30] | MSH6+ | Oligodendroglioma (10) CRC (12) | CALMs Consanguinity | 8 |
| 96 | Levoine [59] | MSH6+ | Astrocytoma (9) | CALMs | 4 |
| 104 | Taeubner [62] | MSH6+ | Medulloblastoma (13) | CALMs Other skin lesions reminiscent of NF1 | 4 |
Abbreviations: CR, colorectal; CRC, colorectal carcinoma; GI, gastrointestinal; GBM, glioblastoma multiforme; CALMs, café-au-lait macules, LS, Lynch syndrome; *, according to C4CMMRD clinical scoring system [3]; NF1, neurofibromatosis type 1.