Table 1 |
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Clinical details and results obtained in the four studied cases |
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Case 1 |
Case 2 |
Case 3 |
Case 4 |
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|
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Clinical History |
persistent anemia since birth |
anemia, thrombocytopenia, MDS |
anemia, thrombocytopenia, MDS |
anemia, thrombocytopenia, MDS |
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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 |
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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 |
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Final Diagnosis |
AML-M7 |
AML-M7 |
AML-M7 |
AML-M7 |
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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 |
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Treatment |
AML BFM 98 |
AML BFM 98 |
AML BFM 98 |
AML BFM 98 |
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Disease status |
Dead with disease |
Alive in complete remission |
Alive in complete remission |
Dead in complete remission |
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|
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Clinical details and results obtained in the four studied AML-M7 with Down syndrome cases are given. Abbreviations: AML = acute myeloid leukemia; AML-M7: acute megakaryoblastic leukemia; BFM: Berlin-Frankfurt-München; BM = bone marrow; n.a. = not available due to lack of material; MDS = myelodysplastic syndrome; WBC: white blood cell count; MCB: multicolor banding |
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Silva et al. Molecular Cytogenetics 2009 2:7 doi:10.1186/1755-8166-2-7 |
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