Table 1.
Pathology and genetic testing results for tumor samples
| Pathology | Karyotype | Chromosomal Microarray Analysis | Mutations detected by OncoKids DNA Assay | Gene fusions detected by OncoKids RNA assay | |
|---|---|---|---|---|---|
| Lymph node sample | Lymph node effaced by an infiltrate of leukemic blasts; Immunophenotype (flow cytometry): CD2 partial, cytoplasmic CD3, CD5, CD7 variable, CD8 variable, CD9 partial, CD10 partial, CD13 partial, CD33 partial, CD38, CD56 variable, CD58, CD71 variable, CD123 variable and TdT partial. | 46,XY,t(11;14) (p13;q11.2) [7]/46,XY[1] | arr [GRCh37] 1p33(47655598_47783787)x1,4q12 (54309141_55098549) x1,9p24.3p13.3(204737_34431079)hmz,9p21.3p21.3 (21827991_21954953)x0 | No clinically significant somatic variants; negative for PDGFRA mutation detected in the bone marrow sample | STIL(1)-TAL1 (2), FIP1L1 (13)-PDGFRA(12) |
| Bone marrow sample | Sections of bone marrow biopsy show a hypercellular marrow with significantly increast number of lymphoblasts (approximately 50%); Immunophenotype (flow cytometry): CD2 negative, surface and cytoplasmic CD3, CD5, CD7 variable (abnormally dim to moderate), CD8 dim/negative, CD4 negative and partial/dim CD56. The blasts were negative for B cell and myeloid antigens. | 46,XY,t(11;14) (p13;q11.2) [3]/46,sl,del(9) (q13q22)[2]/46, XY[15] | ARR[GRCh37] 1 p33(47655598_47783787)x1,4q12 (54280345_55138638)x1, 9p24.3p13.3(192128_34345782) hmz,9 p21.3(21819462_21996603)x0,9q21.11q31.2 (70966261_109046950)x1a | NM_006206 (PDGFRA): c.2522_2527delinsAAG (p.Arg841_lle843delinsLysVal) | STIL(1)-TAL1(2), FIP1L1(13)-PDGFRA(12) |
Slight difference in the genomic coordinates of the detected copy number segments is due to the use of different array platforms (OncoScan and CytoScanHD) for the two samples.