Table 5. Germline mutations identified in patients with AML and MPN.
| ID | Disease | Age/Sex | Gene† | cDNA | Amino acid | Allele frequency | Associated disease | Inheritance pattern | BM, day 28 |
|---|---|---|---|---|---|---|---|---|---|
| P5* | AML | 62/M | ATM | c.5288_5289insGA | p.Tyr1763* | 0.52 | Ataxia-telangiectasia | AR | CR |
| P81* | AML | 3/M | BRCA2 | c.8912delA | p.Lys2971Serfs*5 | 0.5 | Fanconi anemia, hereditary breast and ovarian cancer | AR, AD | ND |
| P75* | AML | 67/M | DDX41 | c.1496dupC | p.Ala500Cysfs*9 | 0.47 | Myeloproliferative/lymphoproliferative neoplasm | AD | PR |
| P99* | AML | 62/M | DDX41 | c.1496dupC | p.Ala500Cysfs*9 | 0.46 | Myeloproliferative/lymphoproliferative neoplasm | AD | CR |
| P30* | AML | 12/M | FANCA | c.1A>T | p.Met1? | 0.46 | Fanconi anemia | AR | PR |
| P35* | AML | 26/F | PALB2 | c.1011_1015delACCAG | p.Leu337Phefs*3 | 0.44 | Fanconi anemia, hereditary breast and ovarian cancer | AR, AD | PR |
| P34* | AML | 17/M | WRAP53 | c.1564delG | p.Ala522Argfs*26 | 0.5 | Dyskeratosis congenita | AR | PR |
| P37* | AML | 39/F | WRAP53 | c.1564delG | p.Ala522Argfs*26 | 0.54 | Dyskeratosis congenita | AR | CR |
| P20 | AML | 25/F | BLM | c.320dupT | p.Leu107Phefs*36 | 0.49 | Bloom syndrome | AR | CR |
| P111 | MPN | 83/F | BRCA2 | c.10150C>T | p.Arg3384* | 0.5 | Fanconi anemia, hereditary breast and ovarian cancer | AR, AD | ND |
| P136 | AML | 40/M | BRCA2 | c.10150C>T | p.Arg3384* | 0.52 | Fanconi anemia, hereditary breast and ovarian cancer | AR, AD | ND |
| P13 | AML | 41/F | PALB2 | Exon 8 deletion | 0.5 | Fanconi anemia, hereditary breast and ovarian cancer | AR, AD | CR | |
| P66 | MPN | 72/M | PALB2 | c.1240C>T | p.Arg414* | 0.4 | Fanconi anemia, hereditary breast and ovarian cancer | AR, AD | ND |
| P126 | MPN | 59/F | RAD51 | c.1dupA | p.Met1? | 0.49 | Fanconi anemia | AR | ND |
| P69 | MPN | 54/M | SBDS | c.258+2T>C | - | 0.46 | Shwachman-Diamond syndrome | AR | ND |
AD, autosomal dominant; AR, autosomal recessive; BM, bone marrow; CR, complete remission; PR, partial remission; ND, not done
* Confirmed in germline samples
† For all genes, almost only germline mutations are thus far reported in myeloid neoplasms