Clinical, hematological, and cytogenetic features of 4 patients with ZEB2 variations
| Patient . | S/A . | Sample . | Diagnosis . | Karyotype . | Variation . | Buccal scrub/nails . | Wild-type screening . | SIFT/polyphen . |
|---|---|---|---|---|---|---|---|---|
| 1 | M/82 | BM | ET | 46,XY[20] | ex5, c.495 G>T p.E165D | Positive/ND | Negative | Deleterious/possibly damaging |
| 2 | M/44 | PB | ET | ND | ex8, c.1875 C>T p.A625A | ND/positive | Negative | NA (synonymous) |
| 3 | M/56 | BM | AML | 46,XY,inv(16)(p13q22)[20] | int6, c.808-35 T>A p.E165D | Positive*/ND | ND | NA (intronic) |
| 4 | F/64 | BM | T-MDS/ AML | 44-46,XX,der(2)t(2;6)(p11;p12),del(5)(q),-12, add(17)(q),-18,-20,+2-3 markers,1-2rings[cp13] 46,XX[2] | ex8, c2807 C>G p.A936G | ND/ND | Negative | Deleterious/possibly damaging |
| Patient . | S/A . | Sample . | Diagnosis . | Karyotype . | Variation . | Buccal scrub/nails . | Wild-type screening . | SIFT/polyphen . |
|---|---|---|---|---|---|---|---|---|
| 1 | M/82 | BM | ET | 46,XY[20] | ex5, c.495 G>T p.E165D | Positive/ND | Negative | Deleterious/possibly damaging |
| 2 | M/44 | PB | ET | ND | ex8, c.1875 C>T p.A625A | ND/positive | Negative | NA (synonymous) |
| 3 | M/56 | BM | AML | 46,XY,inv(16)(p13q22)[20] | int6, c.808-35 T>A p.E165D | Positive*/ND | ND | NA (intronic) |
| 4 | F/64 | BM | T-MDS/ AML | 44-46,XX,der(2)t(2;6)(p11;p12),del(5)(q),-12, add(17)(q),-18,-20,+2-3 markers,1-2rings[cp13] 46,XX[2] | ex8, c2807 C>G p.A936G | ND/ND | Negative | Deleterious/possibly damaging |
A, age; M, male; F, female; AML, acute myeloid leukemia; ET, essential thrombocythemia; NA, not available; ND, not done; S, sex; T-MDS/AML, therapy-related myelodysplastic syndrome/acute myeloid leukemia;
Positive after successful allogeneic bone marrow transplantation.