Table 2 .
Myeloid Neoplasms With Germline Predisposition Syndrome
| Case No. | Panel Diagnosis | Pathogenic Genetic Alterations |
|---|---|---|
| Acute Myeloid Leukemia (AML) | ||
| 230 | AML with biallelic mutations of CEBPA (one germline, one somatic) | CEBPA p.Q41fs (G) |
| CEBPA p.K313dup | ||
| WT1 p.V379fs*72 | ||
| 283 | AML with biallelic mutations of CEBPA (one germline, one somatic) | CEBPA p.E57 (G)* |
| 234 | AML with inv(3)(p21:3q26.2); GATA2, MECOM [with germline constitutional t(8;21)] | RUNX1 p.L219* |
| FLT3-ITD | ||
| ASXL1 p.G646fs | ||
| inv(3)(p21:3q26.2) | ||
| 38 | AML with mutated RUNX1 (germline) | RUNX1 p.Y260*(G) |
| 284 | AML with mutated RUNX1 (possibly germline) | RUNX1 c.351 + 1G>C (G) |
| NRAS p.G12D | ||
| BCOR p.K839fs | ||
| t(2;21)(q23;q22) | ||
| 264 | AML MRC (in a patient with Maffucci syndrome with mosaic IDH1 mutation) | IDH1 p.R132C |
| NRAS p.G13A | ||
| WT1 p.R445Q | ||
| 253 | AML MRC with germline BLM mutation | BLM p.Y736Lfs (G) |
| NF1 p.I679Dfs | ||
| WT1 c.616 + 1dup | ||
| 20 | AML MRC with germline GATA2 mutation | GATA2 c.821del(G) |
| 48 | AML MRC with germline GATA2 mutation | GATA2 p.R204* (G) |
| WT1 p.P376fs* | ||
| WT1 p.A314fs*4 | ||
| JAK2 p.V617F | ||
| CSF3R p.Y814* | ||
| KRAS p.G12D | ||
| 236 | AML MRC with germline GATA2 mutation | GATA2 p.M236V (G) |
| 266 | AML MRC with germline GATA2 mutation | GATA2 p.P174fs (G) |
| 318 | AML, NOS with germline DDX41 mutation | DDX41 p.M1? (G) |
| 55 | AML, NOS with germline NF1 mutation | NF1 p.L380R (G) |
| 225 | Therapy-related AML [myeloid sarcoma, with t(8;16)(p11:2;p13.3);KAT6A-CREBBP] with germline 9q22.32-9q31.1 microdeletion of unknown significance | KAT6A-CREBBP |
| PTCH TGRB1 microdeletion (G) | ||
| 167 | Therapy-related AML with germline TP53 mutation (Li-Fraumeni syndrome) | TP53 p.E204Sfs*43 |
| Myelodysplastic Syndrome (MDS) | ||
| 176 | MDS-EB1 with germline GATA2 mutation | GATA2 p.H51fs* (G) |
| PTPN11 p.A72T | ||
| ASXL1 p.D879fs* | ||
| NRAS p.G12D | ||
| NRAS p.G13D | ||
| 52 | MDS EB-2 with germline GATA2 mutation | GATA2 p.A372T (G) |
| 170 | MDS EB-2 with germline RBM8A mutation | RBM8A mutation (G) |
| 196 | MDS MLD with germline G6P3 mutation | G6PC3 c.218 + 1G>A (G) |
| 105 | MDS MLD with germline GATA2 mutation | GATA2 p.R362Q (G) |
| 138 | MDS MLD with germline GATA2 mutation | GATA2 p.E6fs (G) |
| 337 | MDS MLD with germline GATA2 mutation | GATA2 c.1017 + 572C>T (G) |
| 157 | MDS MLD with germline GATA2 mutation | GATA2 p.C349R (G) |
| 39 | MDS MLD with germline RUNX1 mutation | RUNX1 p.Y189* (G) |
| 339 | MDS MLD with germline RUNX1 mutation | RUNX1 p.K194N (G) |
| 87 | RCC with germline GATA2 mutation | GATA2 c.365del (G) |
| ASXL1 p.T880Qfs*2 | ||
| 307 | RCC with germline GATA2 mutation | GATA2 3.1-3.3 Mb deletion (G) |
| 381 | RCC with germline GATA2 mutation | GATA2 p.R362*(G) |
| 80 | RCC with germline SAMD9 mutation | SAMD9 p.E1136Q (G) |
| Other Myeloid Neoplasms | ||
| 40 | CMML-1 with germline GATA2 mutation | GATA2 p.R361C (G) |
| KRAS p.G12V | ||
| ASXL1 p.R693* | ||
| KRAS p.K117N | ||
| NF1 p.I679fs*21 | ||
| SETBP1 p.I871T | ||
| STAT3 p.S614R | ||
| WT1 p.A382fs*4 | ||
| WT1 p.S381* | ||
| 273 | MDS/MPN, unclassifiable with germline SAMD9 mutation | SAMD9 p.R685Q (G) |
| SAMD9 p.C835R (G) | ||
| 42 | ET with germline SH2B3 mutation | SH2B3 p.D231fs (G) |
| FANCE p.K475R | ||
| EPHB1 p.S690N | ||
| AXIN2 p.R834Q | ||
| 292 | JMML in a patient with Noonan syndrome | PTPN11 p.T73I (G) |
CMML, chronic myelomonocytic leukemia; EB, excess blasts; ET, essential thrombocythemia; G, germline; JMML, juvenile myelomonocytic leukemia; MLD, multilineage dysplasia; MPN, myeloproliferative neoplasm; MRC, myelodysplasia related changes; NOS, not otherwise specified; RCC, refractory cytopenia of childhood.