Clinical and laboratory features of affected individuals
| Feature . | II-1 . | II-2 . | II-8 . |
|---|---|---|---|
| Age at onset (y), sex | 60, male | 62, male | 50, female |
| Diagnosis | AML (M1) | RAEB/AML* | AML (M2) |
| Hemoglobin, g/dL | 6.3 | 11.9 | 7.3 |
| Platelet count (×109/L) | 10 | 39 | 12 |
| White blood cells (×109/L) | 1.9 | 3.2 | 18.9 |
| Blasts in peripheral blood, % | 30 | 0 | 38 |
| Blasts in bone marrow, % | 70.8 | 6.8* | 63.2 |
| Chromosome | 48,XY,+der(1q7p),-7, | 48,XY,del(5)(q?),7p?,inv(9)(p11q13), | Initial: 46,XX[20] |
| inv(9p+q-),20q-,+2mar[3] | −13,-14,-17,+21,+4mar[4] | Relapse: 46,XX,t(1;14)(p36;q11), | |
| /46,XY,inv(9p+q-)[1] | /46,XY,inv(9)(p11q13)[16] | t(15;17)(q26;q25)[3] | |
| /46XX,t(2;18)(q23;q21)[2]/46,XX[13] | |||
| Immunophenotyping | HLA-DR,CD34,CD7,CD13,CD33 | HLA-DR,CD34,CD13,CD33,CD117 | HLA-DR,CD34,CD7,CD13, |
| CD33,CD4,CD25 | |||
| Chemotherapy | Low-dose cytarabine | None | Idarubicin + cytarabine (IDR/Ara-C) |
| -4826024955400Complete remission | 0 mo | 0 mo | 6 mo |
| Feature . | II-1 . | II-2 . | II-8 . |
|---|---|---|---|
| Age at onset (y), sex | 60, male | 62, male | 50, female |
| Diagnosis | AML (M1) | RAEB/AML* | AML (M2) |
| Hemoglobin, g/dL | 6.3 | 11.9 | 7.3 |
| Platelet count (×109/L) | 10 | 39 | 12 |
| White blood cells (×109/L) | 1.9 | 3.2 | 18.9 |
| Blasts in peripheral blood, % | 30 | 0 | 38 |
| Blasts in bone marrow, % | 70.8 | 6.8* | 63.2 |
| Chromosome | 48,XY,+der(1q7p),-7, | 48,XY,del(5)(q?),7p?,inv(9)(p11q13), | Initial: 46,XX[20] |
| inv(9p+q-),20q-,+2mar[3] | −13,-14,-17,+21,+4mar[4] | Relapse: 46,XX,t(1;14)(p36;q11), | |
| /46,XY,inv(9p+q-)[1] | /46,XY,inv(9)(p11q13)[16] | t(15;17)(q26;q25)[3] | |
| /46XX,t(2;18)(q23;q21)[2]/46,XX[13] | |||
| Immunophenotyping | HLA-DR,CD34,CD7,CD13,CD33 | HLA-DR,CD34,CD13,CD33,CD117 | HLA-DR,CD34,CD7,CD13, |
| CD33,CD4,CD25 | |||
| Chemotherapy | Low-dose cytarabine | None | Idarubicin + cytarabine (IDR/Ara-C) |
| -4826024955400Complete remission | 0 mo | 0 mo | 6 mo |
RAEB, refractory anemia with excess blasts.
II-2 developed AML 8 months later and blasts in bone marrow were 47.0%. Clinical or laboratory data of I-1 were not available.