TABLE 1.
Cytogenetic and molecular features of AML and relapsed DLBCL samples.
Acute myeloid leukemia | Relapsed diffuse large B-cell lymphoma | |
---|---|---|
Phenotype | CD45 (moderate), CD13 (bright), CD33 (moderate), MPO (subset), CD34 (bright), CD117, TdT, CD38, HLA-DR (moderate), CD56, and CD4 (dim-moderate), and negative for CD3 (surface and cytoplasmic), CD19, CD123 | CD20+ large cell lymphoma, germinal center type, CD10+, PAX5+, CD79a+, BCL-6, MUM-1, and Ki-67 of 90% |
Karyotype | 44,XY,?add(1)(q32),der(5)add(5)(p13)add(5)(q11.2),add(8)(q24.3),−9,del(13)(?q12?q22),add(15)(p11.2),−17,add(18)(p11.2),−20,+mar1[5]/46,XY[14] | 45–46,XY,der(2)t(2;8)(p13;q11.2) add(2)(q36)[14],add(3)(p13),−8,?der(9)add(9)(p11.2)add(9)(q22),add(11)(q23), add(15)(p11.2),add(16)(p12),add(17)(p11.2),+mar[5][cp12]/45–46,idem,−add(17)(p11.2),+add(17)(p12)[cp3] |
Microarray | 5q deletion (5q14.3→5q35.3), monosomy 9, partial deletion 9p, 8q partial duplication, 17q partial deletion, mosaic loss of Y, and a complex copy number variation of chromosome 21 | N/A |
FISH | RUNX1 (21q22.11,3–5 copies; 21% of cells) | 1 Copy of chromosome 8 centromere (57% of cells), 4 copies of BCL2 18q21.33 (50% of cells), 3 copies of BCL2 18q21.33 (36% of cells) |
EGR1 (5q31.2 deletion; 19% of cells) | Burkitt lymphoma and “double-hit” lymphoma negative | |
Molecular | SBDS c.258+2T>C p.? (gl) | FANCA Y359fs*49 |
SBDS c.183_184delinsCT p.Lys62* (gl) | TP53 R248W | |
DNMT3A c.994G>A (VAF 1.2%) | TP53 R280G | |
TP53 c.742C>T p.R248W (VAF 26.3%) | TP53M246L | |
TP53 c.736A>C p.M246L (VAF 21.2%) | ||
TP53 c.13_714dupGT p.K239Vfs*9 (VAF 5.1%) | ||
TP53 c.838A>G p.R280G (VAF 1.9%) | ||
TP53 c.637C>T p.R213* (VAF 1.6%) | ||
TP53 c.818G>A p273H (VAF 0.5%) |
Abbreviations: AML, acute myeloid leukemia; DLBCL, diffuse large B-cell lymphoma.