Table 4.
Clinicopathological and molecular features of brain tumors in CMMRD syndrome.
| Chronological Case Order | Reference (Number) | Case ID | Age at Diagnosis (Years) | Gender | Histology | Altered Gene | IHC | MSI (Marker) |
|---|---|---|---|---|---|---|---|---|
| 1 | Wang [2] | 1 | 18 | M | Medulloblastoma | MLH1 | NA | * MSI-H |
| 2 | 2 | 7 | F | Medulloblastoma | MLH1 | NA | NA | |
| 3 | De Rosa [27] | 1 | 14 | F | Oligodendroglioma GIII | PMS2 | NA | NA |
| 4 | 2 | 13 | F | Neuroblastoma | PMS2 | NA | NA | |
| 5 | Vikky [28] | 1 | 4 | F | Glioma | MLH1 | NA | NA |
| 6 | Bougeard [29] | 1 | 3 | M | GBM | MSH2 | NA | MSS |
| 7 | Menko [30] | 1 | 10 | M | Oligodendroglioma | MSH6 | MSH6+ | MSS |
| 8 | De Vos 2004 [14] | 1 | 8 | M | PNET | PMS2 | NA | NA |
| 9 | 2 | 14 | F | PNET | PMS2 | NA | NA | |
| 10 | De Vos 2006 [31] | 1 | 8 | NS | PNET | PMS2 | NA | NA |
| 11 | 2 | 4 | NS | PNET | PMS2 | NA | NA | |
| 12 | 3 | 15 | NS | Glioma | PMS2 | NA | NA | |
| 13 | 4 | 6 | NS | Astrocytoma | PMS2 | NA | NA | |
| 14 | 5 | 7 | NS | GBM | PMS2 | NA | NA | |
| 15 | 6 | 2 | NS | Giant cell glioblastoma | PMS2 | NA | NA | |
| 16 | Agostini [32] | 1 | 18 | M | Giant cell glioblastoma | PMS2 | PMS2- | MSS |
| 17 | Ostergaard [33] | 1 | 9 | M | Astrocytoma GIII | MSH6 | MSH6- | NA |
| 18 | 2 | 2 | F | GBM of spinal cord | MSH6 | MSH6- | NA | |
| 19 | Hegde [34] | 1 | 8 | F | GBM | MSH6 | NA | MSI-H (D2S123, D17S250, BAT25, D18S35, TP53-DI, D1S283, TP53-Penta, FGA, NR-21, NR-22, NR-24) |
| 20 | Durno [35] | 1 | 14 | F | Anaplastic astrocytoma | MLH1 | NA | NA |
| 21 | Krüger [36] | 1 | 9 | M | GBM | PMS2 | NA | NA |
| 22 | 2 | 6 | F | GBM | PMS2 | NA | NA | |
| 23 | 3 | 9 | M | GBM | PMS2 | NA | NA | |
| 24 | Gururangan [37] | 1 | 19 | M | Astrocytoma GIII | PMS2 | PMS2- | MSS |
| 25 | 2 | 11 | M | Anaplastic oligodendroglioma | PMS2 | NA | NA | |
| 26 | Auclair [38] | 1 | 7 | F | GBM | MSH6 | * MSH6– | * MSI-L |
| 27 | 2 | 19 | F | Oligodendroglioma | PMS2 | * PMS2– | * MSI-H | |
| 28 | Poley [39] | 1 | 4 | M | GBM | MLH1 | MLH1– | MSS |
| 29 | 2 | 6 | M | Oligodendroglioma | MSH6 | MSH6– | MSI-L | |
| 30 | 3 | 8 | M | Medulloblastoma | MSH6 | MSH6– | MSI-L | |
| 31 | Scott [40] | 1 | 7 | F | Medulloblastoma | MSH6 | MSH6– | NA |
| 32 | Kratz [41] | 1 | 9 | F | PNET | PMS2 | NA | NA |
| 33 | Etzler [42] | 1 | 6 | NS | Medulloblastoma | MSH6 | NA | NA |
| 34 | 2 | 9 | NS | GBM | MSH6 | MSH6– | MSS | |
| 35 | 3 | 10 | NS | GBM | PMS2 | PMS2– | MSS | |
| 36 | Senter [43] | 1 | 23 | NS | Brain tumor | PMS2 | NA | NA |
| 37 | 2 | 35 | NS | Glioma | PMS2 | NA | NA | |
| 38 | 3 | 7 | NS | Medulloblastoma | PMS2 | NA | NA | |
| 39 | Tan [44] | 1 | 8 | M | GBM | PMS2 | NA | NA |
| 40 | Toledano [45] | 1 | NS | M | Anaplastic astrocytoma GIII | MSH2 | NA | NA |
| 41 | 2 | 13 | M | Anaplastic astrocytoma GII | MSH2 | NA | NA | |
| 42 | Sjursen [46] | 1 | 10 | F | Giant cell glioblastoma | PMS2 | PMS2+ | MSI-H (BAT25, BAT26,BAT40,D2S123,D5S107, D5S346, D5S406,D13S153, D17S250) |
| 43 | Giunti [47] | 1 | 10 | M | GBM | PMS2 | NA | NA |
| 44 | 2 | 4 | F | Brain tumor | PMS2 | NA | NA | |
| 45 | Roy [48] | 1 | 8 | F | Medulloblastoma | PMS2 | NA | NA |
| 46 | Herkert [49] | 1 | 2 | M | Angiosarcoma cerebral | PMS2 | PMS2- | MSI-H (BAT25, BAT26, D2S123, D5S346, D17S250) |
| 47 | 2 | 34 | M | GBM | PMS2 | NA | NA | |
| 48 | 3 | 9 | F | Anaplastic ganglioma | PMS2 | PMS2- | MSI-H (BAT25, BAT26, D2S123, D5S346, D17S250) | |
| 49 | Ilencikova [50] | 1 | 11 | F | Fibrillar astrocitoma | MSH6 | NA | NA |
| 50 | 1 | 12 | M | Anaplastic astrocytoma GIII | MSH6 | MSH6- | MSI-L (BAT26) | |
| 51 | 2 | 10 | M | GBM | MSH6 | NA | NA | |
| 52 | Leenen [51] | 1 | 4 | F | PNET | PMS2 | PMS2- | MSS |
| 53 | 2 | 7 | M | Glioblastoma GIII | PMS2 | PMS2- | MSI-H (NR21,BAT26) | |
| 54 | Johannesma [52] | 1 | 11 | F | Papillary glioneural tumor | PMS2 | PMS2– | MSS(BAT26, BAT25, NR21, NR24, MONO 27, Penta D, Penta C) |
| 55 | Baas [8] | 1 | 3 | M | GBM | MLH1 | MLH1– | NA |
| 56 | 2 | 2 | M | Astrocytoma of spinal cord | PMS2 | §MLH1–/PMS2- | NA | |
| 57 | Lindsay [53] | 1 | 12 | M | Medulloblastoma | PMS2 | NA | NA |
| 58 | Walter [54] | 1 | 13 | F | GBM | PMS2 | NA | NA |
| 59 | Yeung [55] | 1 | 3 | M | Optic pathway glioma | PMS2 | NA | NA |
| 60 | Chmara [7] | 1 | 11 | M | Anaplastic oligodendroglioma | PMS2 | NA | NA |
| 61 | 2 | 4 | M | GBM | NA | NA | NA | |
| 62 | 3 | 9 | M | GBM | PMS2 | NA | NA | |
| 63 | 4 | 4 | F | GBM | PMS2 | NA | NA | |
| 64 | Bakry [56] | 1 | 5 | NS | Pleomorphic xantho-astrocytoma | PMS2 | PMS2– | NS |
| 65 | 2 | 8 | NS | GBM | MSH6 | MSH6– | NS | |
| 66 | 3 | 11 | NS | GBM | PMS2 | PMS2– | NS | |
| 67 | 4 | 13 | NS | GBM | PMS2 | PMS2– | NS | |
| 68 | 5 | 4 | NS | GBM | PMS2 | NA | NS | |
| 60 | 6 | 21 | NS | Oligodendroglioma | PMS2 | NA | NS | |
| 70 | 7 | 24 | NS | GBM | PMS2 | NA | NS | |
| 71 | 8 | 10 | NS | Anaplastic oligodendroglioma | MSH6 | MSH6– | NS | |
| 72 | 9 | 11 | NS | Anaplastic astrocytoma | MSH6 | MSH6– | NS | |
| 73 | 10 | 17 | NS | GBM | PMS2 | PMS2– | NS | |
| 74 | 11 | 12 | NS | GBM | MSH6 | NA | NS | |
| 75 | 12 | 8 | NS | GBM | NA | PMS2– | NS | |
| 76 | 13 | 9 | NS | GBM | NA | PMS2– | NS | |
| 77 | 14 | 4 | NS | GBM | NA | PMS2– | NS | |
| 78 | 15 | 16 | NS | Anaplastic astrocytoma | NA | PMS2– | NS | |
| 79 | 16 | 11 | NS | Pleomorphic xantho-astrocytoma | NA | PMS2– | NS | |
| 80 | Bougeard [57] | 1 | 11 | F | GBM | PMS2 | * PMS2– | *MSI-H |
| 81 | 2 | 9 | M | GBM | PMS2 | * PMS2– | *MSI-H | |
| 82 | Daou [58] | 1 | 22 | F | Anaplastic ganglioglioma | PMS2 | PMS2– | NA |
| 83 | Lavoine [59] | 1 | 21 | NS | Ganglioglioma | PMS2 | PMS2– | MSI-H |
| 84 | 2 | 40 | NS | Glioblastoma | PMS2 | NA | NA | |
| 85 | 3 | 11 | NS | Glioblastoma | PMS2 | # MLH1-/PMS2- | MSI-H | |
| 86 | 4 | 6 | NS | GBM | PMS2 | # MLH1-/PMS2- | MSS | |
| 87 | 5 | 13 | NS | GBM | PMS2 | PMS2– | NA | |
| 88 | 6 | 22 | NS | GBM | PMS2 | PMS2– | MSI-H | |
| 89 | 7 | 32 | NS | GBM | PMS2 | PMS2– | MSI-H | |
| 90 | 8 | 34 | NS | GBM | PMS2 | PMS2– | MSI-H | |
| 91 | 9 | 6 | NS | Spinal GBM | PMS2 | PMS2– | NA | |
| 92 | 10 | 6 | NS | GBM | PMS2 | NA | NA | |
| 93 | 11 | 5 | NS | Medulloblastoma | MLH1 | # MLH1–/PMS2– | MSS | |
| 94 | 12 | 5 | NS | Oligodendroglioma | MLH1 | # MLH1–/PMS2– | MSS | |
| 95 | 13 | 6 | NS | GBM | MSH6 | MSH6– | MSS | |
| 96 | 14 | 9 | NS | Astrocytoma | MSH6 | MSH6+ | MSS | |
| 97 | 15 | 14 | NS | GBM | MSH6 | # MSH2–/MSH6– | MSS | |
| 98 | Nguyen [60] | 1 | 6 | F | Medulloblastoma | MLH1 | § MLH1–/PMS2- | MSI-H (TP53, D17S250, D2S123, D5S346) |
| 99 | 2 | 5 | M | Glioma IV | MLH1 | § MLH1-/PMS2- | MSI-H (TP53, D17S250, D2S123,D5S2013) | |
| 100 | 3 | 5 | M | Brain tumor | NA | NA | NA | |
| 101 | Maletzki [61] | 1 | 11 | F | Anaplastic astrocytoma | MSH6 | NA | MSI-H (BAT25, BAT26, Cat25, Bat40, NR24, MRPL2, TP53, DAMS) |
| 102 | 2 | 10 | M | GBM | MSH6 | NA | MSI-H (BAT25, BAT26, Cat25, Bat40, NR24, TP53, DAMS) | |
| 103 | 3 | 4 | F | GBM | PMS2 | NA | MSI-H (BAT25, BAT26, Cat25, Bat40, NR21, NR24, NR27, MRPL2, TP53, DAMS) | |
| 104 | Taeubner [62] | 1 | 13 | F | Medulloblastoma | MSH6 | MSH6 + | NA |
| 105 | AlHarbi [63] | 1 | 5 | F | GBM | MSH6 | NA | NA |
| 106 | Baig [64] | 1 | 11 | M | GBM | PMS2 | NA | NA |
| 107 | 2 | 9 | F | PNET, astrocytoma | NA | NA | NA | |
| 108 | 3 | 5 | M | PNET | NA | NA | NA | |
| 109 | 4 | 1 | M | PNET | NA | NA | NA | |
| 110 | 5 | 7 | M | GBM | PMS2 | NA | NA | |
| 111 | 6 | 9 | F | PNET, astrocytoma | PMS2 | NA | NA | |
| 112 | Bush [65] | 1 | 27 | F | GBM | MSH6 | NA | NA |
| 113 | Farah [66] | 1 | 10 | M | High-grade Glioma | PMS2 | PMS2– | NA |
| 114 | 2 | 22 | F | GBM | PMS2 | PMS2– | NA | |
| 115 | 3 | 10 | M | Medulloblastoma | PMS2 | PMS2- | NA | |
| 116 | 4 | 12 | F | Brain tumor | PMS2 | PMS2- | NA | |
| 117 | Current study | 1 | 7 | M | GBM | MSH6 | MSH6- | MSS |
| 118 | 2 | 4 | M | Malignant astrocytoma | MSH6 | MSH6- | MSI-L (NR27) |
Abbreviations: IHC, immunohistochemistry; MSI, microsatellite instability; GBM, glioblastoma multiforme; NA, not analyzed; NS, not specified; MSI-H, microsatellite instability, high grade; MSI-L, microsatellite instability, low grade; MSS, microsatellite instability, stable; § MLH1, staining loss in tumor cells but not in non-neoplastic cells. # IHC, immunohistochemical pattern not specified; *, results from Lavoine et al., [59].