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Table 1 Demographic data cases 1–5

From: Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population

Parameter Case 1 Case 2 Case 3 Case 4 Case 5
Age (years) 4 7 11 18 3
Gender Female Female Male Male Male
Clinical Cervical Lymphadenopathy and leucocytosis Fever, abdominal distention, hepatosplenomegaly Vomiting, diarrhoea, lower limb weakness Epistaxis, ecchymosis skin lesions Fever, lymphadenopathy and hepatomegaly
WBC (109/L) 137 18 100,8 221 18.8
HB (g/dl) 5.2 4.8 7.2 11 8.7
PLT (X109/L) 9 53 109 34 239
PB blasts 80% 60% No blasts 40% 6%
Bone marrow aspirate Hypercellular Blasts 90%
B-ALL phenotype
Hypercellular
Blasts 80%
B-ALL phenotype
40% blasts and 50% eosinophils 40% blasts on PB and 70% blasts on BM Hypercellular
Blasts 75%
Myelomonocytic proliferation with M4 AML
Blasts 90% 60% 40% 70% 75%
Disease B-ALL B-ALL B-ALL T-ALL AML FAB M4
Cytogenetic analysis (karyotype/FISH) 46, XX,1-, 8-, 9-, 11-, 12-, 19-, and 22- in 80% of cells) 2n-,44, XX,- 4, −8). t (12; 17).
ETV/RUNX 1.
Loss of der (12-)
MYC gene rearrangement.
t (5;14)
Negative: PDGFRA PDGFRB FGFR1
46,XY,t(3;11;19)
(q21; q23; q13.1).
MLL gene rearranged; extra MYC gene
48,XY,+ 8,+ 8,t(11;17)
(p15;q21) [14]/47, idem,-Y
Chemotherapy Very high risk ALL chemotherapy protocol (COG AALL0031) and intensive consolidation Standard risk chemotherapy protocol (COG AALL0331). high-risk protocol COG AALL0232 with high dose methotrexate for maintenance Dana Farber then FLAG-Ida salvage chemotherapy high dose MRC AML12 protocol.
Survival Partial remission Complete remission status achieved Complete remission Relapsed and demised Death due to multiorgan failure