Table 2.
Clinical characteristics of patients with synonymous GATA2 mutations.
| Patient no. (ID) | Age at Dx | Sex | Hematological presentation and other features | Karyotype | Therapies | Age and status at last FUP |
|---|---|---|---|---|---|---|
| P1 (D 1239) | 12 | F | RCC, low IgG, low monocytes/B/DC | −7 | MUD-HSCT | 13.5 years: alive |
| P2 (sister of P1) | 11 | F | B/NK-cell lymphopenia, low IgA/G | Not done | Observation | 12 years: alive |
| P3 (D 749) | 14 | F | MDS-EB | −7 | CB-HSCT | 15.4 years: died from infection 7 months after HSCT |
| P4 (LT) | 3 | M | RCC, facial abnormalities, skin hypopigmentation, joint hypermobility | −7 | MSD-HSCT | 7.6 years: alive |
| P5 (D 722) | 11 | M | RCC, hepatosplenomegaly | Normal | Observation | 18.5 years: alive |
| P6 (D 1142) | 11.5 | M | RCC, hypospadias | −7 | MUD-HSCT | 15.2 years: alive |
| P7 (D) | 14 | F | Suspicious for RCC | Normal | – | 20.9 years: alive |
| P8 (I 386) | 4 | F | RCC | Normal | MUD-HSCT | 4 years: alive |
| P9 (UKA2604) | 24 | F | MDS-MLD, low monocytes/B/NK/DC, recurrent viral warts, mycobacterium avium infections, HPV-driven neoplasia, Crohn’s colitis | Normal | MUD-HSCT | 32 years: alive |
Dx diagnosis, RCC refractory cytopenia of childhood, DC dendritic cells, NK natural killer cells, MDS-EB myelodysplastic syndrome with excess blast, MDS-MLD myelodysplastic syndrome with multilineage dysplasia, HSCT allogeneic hematopoietic stem cell transplantation, −7 monosomy 7, MUD matched unrelated donor, CB cord blood, MSD matched sibling donor, FUP follow-up.