Table 1 Clinical details and results obtained in the four studied cases
Case 1 | Case 2 | Case 3 | Case 4 | |
|---|---|---|---|---|
Clinical History | persistent anemia since birth | anemia, thrombocytopenia, MDS | anemia, thrombocytopenia, MDS | anemia, thrombocytopenia, MDS |
Age of diagnosis | 20 months | 20 months | 17 months | 11 months |
Sex/Ethnicity | male/non-white | female/white | female/non-white | male/non-white |
Diagnosis | August 2005 | March 2006 | February 2006 | May 2005 |
BM Morphology | Hyper-cellular, 72% blast cells, abnormal nucleoli and blebs | Hyper-cellular, 95% blast cells | Hyper-cellular, 60% blast cells | Hyper-cellular, 80% blast cells, nucleoli and blebs |
WBC [ml] | 3.8 × 103 | 13.0 × 106 | 4.0 × 106 | 36.7 × 106 |
Blast cells [%] | 45 | 24 | 10 | 43 |
Platelets count [ml] | 90 × 106 | 26.0 × 106 | 46 × 106 | 90 × 106 |
Final Diagnosis | AML-M7 | AML-M7 | AML-M7 | AML-M7 |
Immunophenotype | CD33/CD13+; CD7/CD34/CD117+; CD61/CD41+ | CD61/CD14+/CD13/CD33+; CD38/CD117+ | CD33/CD13+; CD7/CD34+; CD61+ | CD33/CD13+; CD7/CD34/CD117+; CD61/CD41+ |
Cytogenetics G banding | 47,XY,der(19)t(1;19) (q24;p13.3),der(20)t(1;20) (q24;q11.2),+21c [13] | 48,XX,t(1;16)(q21;q12.1), +der(16)t(9;16)(q13;q12.1), +21c [15] | 47,XX,der(17)t(1;17) (q32;p13),+21c [20] | 47,XY,-1, add(5)(p14), del(7)(p15), +der(7)t(1;7)(q21;p22), +21c [10] |
MCB Banding | 47,XY,der(19)t(1;19) (q31;p13.3),der(20)t(1;20) (q31;q12~13.1),r(20) (p11.2q12),+21c [53]/47,XY, der(2)t(2;11)(q37.3;q12~13), der(19)t(1;19)(q31;p13.3), der(20)t(1;20)(q31;q12~13.1),+21c[5] | 48,XX,t(1;16)(q31~32;q23), der(5)t(1;5)(q31~32;p13),+der(16)t(16;1;5) (q23;q31~32;p13),+21c | 47,XX,der(17)t(1;17) (q32;p13),+ 21c | n.a. |
Gata-1 status | no mutation | c.56G > A | c.113 del G | c.201A > G |
Treatment | AML BFM 98 | AML BFM 98 | AML BFM 98 | AML BFM 98 |
Disease status | Dead with disease | Alive in complete remission | Alive in complete remission | Dead in complete remission |