Patient characteristics and mutation data in a pediatric GATA2-MDS cohort
| Case . | Age at Dx/sex . | Dx and cytogenetics . | Germ line GATA2 mutation . | Sample source for GATA2 analysis . | Somatic mutations . | VAF (%) . | Relapse . | No. of HSCTs . | Progress to AML? . | Vital status . | Length of FU (days) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BMF41 | 9/F | RCC with monosomy 7 | c.1018-1G>A | PB, LCL (pre-HSCT) | RUNX1 c.593A>G, p.D198G | 29.8 | Yes | 3 | Yes | Dead | 1460 |
| MW (post-HSCT) | SETBP1 c.2608G>A, p.G870S | 31.8 | |||||||||
| IKZF1 c.178delC, p.P113LfsX4 | 43.8 | ||||||||||
| BMF67 | 15/M | RCC with NK | c.1018-2A>C | PB, LCL (pre-HSCT) | None | — | No | 1 | No | Alive | 1871 |
| BS (post-HSCT) | |||||||||||
| BMF109* | 5/F | RCC with monosomy 7 | c.1144-1G>C | BM (relapse) | None† | † | Yes | 2 | No | Alive | 3687 |
| MW (post-HSCT) | |||||||||||
| BMF129 | 8/F | RCC with monosomy 7 | c.599delG, p.G200VfsX18 | BS (pre-HSCT) | None | — | No | 1 | No | Alive | 469 |
| BS (post-HSCT) | |||||||||||
| BMF52 | 12/M | RCC with monosomy 7 | 3.1-3.3 Mb het del encompassing GATA2 | PBMC (pre-HSCT) | CRLF2 c.188A>G, p.N63S | 58.0 | Yes | 3 | Yes | Alive | 1814 |
| SF |
| Case . | Age at Dx/sex . | Dx and cytogenetics . | Germ line GATA2 mutation . | Sample source for GATA2 analysis . | Somatic mutations . | VAF (%) . | Relapse . | No. of HSCTs . | Progress to AML? . | Vital status . | Length of FU (days) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BMF41 | 9/F | RCC with monosomy 7 | c.1018-1G>A | PB, LCL (pre-HSCT) | RUNX1 c.593A>G, p.D198G | 29.8 | Yes | 3 | Yes | Dead | 1460 |
| MW (post-HSCT) | SETBP1 c.2608G>A, p.G870S | 31.8 | |||||||||
| IKZF1 c.178delC, p.P113LfsX4 | 43.8 | ||||||||||
| BMF67 | 15/M | RCC with NK | c.1018-2A>C | PB, LCL (pre-HSCT) | None | — | No | 1 | No | Alive | 1871 |
| BS (post-HSCT) | |||||||||||
| BMF109* | 5/F | RCC with monosomy 7 | c.1144-1G>C | BM (relapse) | None† | † | Yes | 2 | No | Alive | 3687 |
| MW (post-HSCT) | |||||||||||
| BMF129 | 8/F | RCC with monosomy 7 | c.599delG, p.G200VfsX18 | BS (pre-HSCT) | None | — | No | 1 | No | Alive | 469 |
| BS (post-HSCT) | |||||||||||
| BMF52 | 12/M | RCC with monosomy 7 | 3.1-3.3 Mb het del encompassing GATA2 | PBMC (pre-HSCT) | CRLF2 c.188A>G, p.N63S | 58.0 | Yes | 3 | Yes | Alive | 1814 |
| SF |
RefSeq IDs: GATA2, NM_032638.4; RUNX1, NM_001754.4; SETBP1, NM_015559.2; IKZF1, NM_006060.4; CRLF2, NM_022148.2.
AML, acute myeloid leukemia; BM, bone marrow; BS, buccal swab; Dx, diagnosis; F, female; FU, follow-up; het del, heterozygous deletion; HSCT, hematopoietic stem cell transplant; LCL, lymphoblastoid cell line; M, male; MW, mouthwash; NK, normal karyotype; No., number; PB, peripheral blood; PBMC, peripheral blood mononuclear cells; RCC, refractory cytopenia of childhood; SF, skin fibroblast; VAF, variant allele frequency.
No diagnostic sample available. Pathologic features and acquired mutation testing assessed on first relapse sample.
BMF109 was noted to have a mutation in RUNX1 c.167T>C, p.L56S at a variant allele frequency of 30.0% in the relapsed BM sample. This mutation was also found in the MW sample obtained after HSCT, and was therefore considered germ line (supplemental Figure 2).