Table 1.

Patient characteristics and mutation data in a pediatric GATA2-MDS cohort

CaseAge at Dx/sexDx and cytogeneticsGerm line GATA2 mutationSample source for GATA2 analysisSomatic mutationsVAF (%)RelapseNo. of HSCTsProgress to AML?Vital statusLength 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 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 No Alive 1871 
BS (post-HSCT) 
BMF109* 5/F RCC with monosomy 7 c.1144-1G>C BM (relapse) None  Yes No Alive 3687 
MW (post-HSCT) 
BMF129 8/F RCC with monosomy 7 c.599delG, p.G200VfsX18 BS (pre-HSCT) None — No 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 Yes Alive 1814 
SF 
CaseAge at Dx/sexDx and cytogeneticsGerm line GATA2 mutationSample source for GATA2 analysisSomatic mutationsVAF (%)RelapseNo. of HSCTsProgress to AML?Vital statusLength 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 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 No Alive 1871 
BS (post-HSCT) 
BMF109* 5/F RCC with monosomy 7 c.1144-1G>C BM (relapse) None  Yes No Alive 3687 
MW (post-HSCT) 
BMF129 8/F RCC with monosomy 7 c.599delG, p.G200VfsX18 BS (pre-HSCT) None — No 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 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).