Table 3.
Genetic-positive samples where genetic diagnosis had an impact on histopathological review
| Sample name | Lesion category | Original pathology | Genetic diagnosis | Inheritance (VAF) | Revised pathology | Additional information |
|---|---|---|---|---|---|---|
| MCD_EEBB_10 | MCD | PMG | NRAS (p.Q61R) | Somatic (0.13) | Complex MCD | PMG, NH, FCD 2a and GG |
| MCD_EEBB_65 | MCD | PMG | NRAS (p.Q61K) | Somatic (0.24) | Complex MCD | PMG, NH, FCD 2a and DNET |
| MCD_CCF_29 | MCD | FCD (NOS) | TSC2 (p.C644X) | Germline (0.46) | Cortical tuber | FCD 2b |
| MCD_CCF_55 | MCD | FCD (NOS) | TSC2 (p.F1619S) | Germline (0.46) | Cortical tuber | FCD 2b |
| MCD_CCF_56 | MCD | FCD (NOS) | TSC2 (p.M276Vfs*61) | Germline (0.43) | Cortical tuber | FCD 2b |
| MCD_CCF_27 | MCD | FCD 2b | TSC2 (p.H1135Pfs*33) | Germline (0.45) | Cortical tuber | FCD 2b |
| MCD_CCF_62 | MCD | FCD 2a | Chr1q duplication | Somatic (0.06) | FCD 2a | Hyaline astrocytic inclusions |
| MCD_EEBB_110 | MCD | MOGHE | Chr1q duplication | Somatic (0.08) | FCD 2a | Hyaline astrocytic inclusions |
| MCD_CCF_30 | MCD | mMCD | DEPDC5 (p.V272L) | Germline (0.46) | FCD 2a | – |
| MCD_CCF_80 | MCD | mMCD | DEPDC5 (p.P779A) | Germline (0.49) | FCD 2a | – |
| MCD_EEBB_100 | MCD | mMCD | SLC35A2 (p.Q108X) | Somatic (0.25) | MOGHE | – |
| MCD_CCF_79 | MCD | FCD 1a | SLC35A2 (p.A116E) | Somatic (0.14) | MOGHE | – |
| MCD_EEBB_58 | MCD | FCD 1a | SLC35A2 (p.S308Wfs*106) | Somatic (0.11) | MOGHE | – |
| MCD_EEBB_87 | MCD | FCD 1a | SLC35A2 (p.Q108X) | Somatic (0.09) | MOGHE | – |
NOS = Not otherwise specified; PMG = polymicrogyria; NH = nodular heterotopia.