Table 1 .
Features of Cases Submitted With Germline GATA2 Mutation
| GATA2 Mutation | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case No. | Age, y | Sex | Genomic | Protein | Type | Familial or Sporadic | Infections | Other | Prior Disease | PB Cytopenias | Bone Marrow Diagnosis | Karyotype | NGS Additional Mutations |
| 20 | 18 | M | c.821delC | p.274fs | FS PS | F | NR | Family history of solid tumors | No | P, blasts | AML-MRC | –7, +8, add | NR |
| 40 | 17 | M | c.1081C>T | p.R361C | M ZF2 | NR | NR | Presented post MVA | No | Monocytosis | CMML | –7 | ASXL1 R693X, KRAS G12V, STAT3 S614R |
| 48 | 6 | M | c.610C>T | p.Arg204* | PS | F | NR | Megakaryoblasts | No | P | AML-MRC | –7 | WT1 |
| 52 | 22 | F | c.1114G>A | p.A372T | M ZF2 | S | PNA, cellulitis, cervical HPV | Lymphedema | Yes | P | MDS-EB2 | –7 | NR |
| 87 | 5 | M | c.1143 + 200_1198del | Lg Del | NR | cellulitis, warts | Lymphedema | Yes | N, B-NK | RCC | N | ASXL1 | |
| 105 | 57 | M | c.1085G>A | p.Arg362Gln | M ZF2 | F | NR | Patient was donor for brother with AML 20 y prior | Yes | P | MDS-MLD | N | NR |
| 138 | 13 | F | c.16delG | p.6fs | FS | S | NR | 2-y prior history of anemia | Yes | A, N | MDS-MLD | N | NR |
| 157 | 45 | F | c.1045T>C | p.C349R | M ZF2 | NR | HPV-carcinomas | Onset age 16, prior diagnosis of AA | Yes | P | MDS-MLD | +21 | NR |
| 176 | 10 | F | c.154_179del, | p.H51fs* | FS PS | NR | NR | Lymphedema, onset age 6 | Yes | N | MDS-EB1 | –7 | ASXL1, NRAS |
| 236 | 30 | M | c.706A>G | p.Met236Val | M VUS | F | NR | BT, pure erythroid leukemia | Yes, BT | P | AML-MRC | Complex | NR |
| 258 | 62 | F | c.1193G>A | p.R398Q | M ZF2 | NR | MAI | 0nset 52 y cytopenias | Yes | A, Mo, L | HLHBMID | +8 | NR |
| 266 | 16 | F | c.521del | p.174fs | FS | NR | NR | h/o MDS 1 y prior | Yes | P | AML-MRC | N | FANC |
| 275 | 44 | F | c.1192C>T | p.R398W | M ZF2 | F | Pulmonary aspergillosis, MAI, cervical HPV | Mother died colon cancer 31 y; sister died 36 y infection; AFB + marrow | Yes | T, Mo, L | BMID | N | STAG2 p.R614X |
| 307 | 12 | M | 3.1-3.3 Mb deletion; nt 128198265-128212030 | Lg Del | S | PNA | No | A,N,Mo, rare Blasts | RCC | –7 | CRLF2 p.N63S | ||
| 337 | 31 | F | c.1017 + 572C>T | R/I | F | Pannicullitis, PNA, HPV, MAI | Granulomata in marrow | Yes | P, Mo, B, NK | MDS-MLD | +8 | NR | |
| 381 | 17 | F | c.1084C>T; | p.R362* | PS ZF2 | NR | NR | No | A, N | RCC | Der(1;7), +8 | NR | |
A, anemia; AA, aplastic anemia; AFB, acid-fast bacilli; AML-MRC, acute myeloid leukemia with myelodysplasia-related changes; B, B-lymphopenia; BMID, bone marrow and immunodeficiency disorder; BT, β-thalassemia; cellu, cellulitis; cerv, cervical; CMML, chronic myelomonocytic leukemia; F, familial; FS, frameshift; HLH, hemophagocytic lymphohistiocytosis; HPV, human papillomavirus; L, lymphopenia; Lg Del, large deletion; M, missense; Mo, monocytopenia; MAI, Mycobacterium avium-intracellulare; MDS-EB1, myelodysplastic syndrome with excess blasts I; MDS-EB2, myelodysplastic syndrome with excess blasts II; MDS-MLD, myelodysplastic syndrome with multilineage dysplasia; MVA, motor vehicle accident; N, neutropenia; NGS, next-generation sequencing; NK, NK-lymphopenia; NR, not reported; P, pancytopenia; PNA, pneumonia; PNA, pneumonia; PS, premature stop; RCC, refractory cytopenia of childhood; R/I, regulatory/intronic; S, sporadic; T, thrombocytopenia; VUS, variant of unknown significance; ZF2, zinc finger 2.