Case Reports 1621BradtkeID100031

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(Paper co-edited with the European LeukemiaNet)
A case of trisomy 8 and loss of the Y-chromosome as secondary aberrations in a ten year old boy with de novo AML FAB M2 and t(16;21)(q24;q22)
Written2007-11Jutta Bradtke, Peter Vorwerk, Jochen Harbott
Dipl.-Biol., Fachhumangenetikerin GfH, Oncogenetic Laboratory, Dept. Ped. Hematology / Oncology, Schlangenzahl 14, 35385 Giessen, Germany (JB)
Age and sex : 10 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 34 x 109/L ; Hb : 8 g/dL (2); platelets : 57 x 109/L; blasts : 92 % .
Bone marrow : 94
Cyto pathology classification
Cytology : M2 without Auer rods; Peroxidase (+) esterase (+)
Immunophenotype : CD13+, CD33+
Pathology : -
Electron microscopy : -
Precise diagnosis : ANLL M2
Date of diagnosis: 06-2007
Treatment : AML BFM Protocol (high risk)
Complete remission was obtained
Treatment related death : -
Relapse : -
Status : Alive 09-2007
Sample : Bone Marrow ; culture time : two cultures 48 hours ; banding : GTG-Banding
Results : 46,X,-Y,+8,t(16;21)(q24;q22)
Other molecular studies
technics : FISH evaluation for AML1 rearrangement and trisomy 8 was performed on abnormal metaphases after 48h of cultivation with the LSI AML1/ETO Dual Color Probe (Abbott Molecular/Vysis, Inc.).
results : ish +8(ETO x 3),der(16)t(16;21)(dimAML1+),der(21)t(16;21)(dimAML1+)
GTG-banded chromosomes which are representing the trisomy 8 and the t(16;21).
DAPI stained and inverted metaphase which shows three signals for ETO (red) and three signals for AML1 (green, one signal splitted).
The t(16;21)(q24;q22) is a rare aberration in AML with 16 cases described in the Mitelman-database and it is extreme rare in children (only two cases published). Most of these 16 cases are classified to the FAB M2 subtype and a trisomy 8 was seen as a recurrent secondary aberration of t(16;21). Loss of one sex chromosome as a secondary aberration of t(16;21) has not been described yet. This is to our knowledge the first case of an AML with t(16;21)(q24;q22), trisomy 8 and loss of the Y-chromosome. The specific aberration for AML M2 is the t(8;21)(q22;q22), which shows often a loss of one sex chromosome (seen in 50% of the cases) and in 10% a trisomy 8 as secondary aberrations (Huret, 1997). Maybe the t(16;21)(q24;q21) is a rare equivalent of the t(8;21), because 1) the same gene RUNX1, located on (21)(q22), is involved and has similar genes as translocation partners: RUNX1T1 (ETO) in the t(8;21) and CBFA2T3 in the t(16;21); both are coding for ETO proteins, 2) the t(16;21) occurs often in cases with the same AML M2 morphology, and 3) patients with t(16;21) show the same additional chromosome anomalies (-Y/+8). While trisomy 8 is quite frequent in various leukemias the loss of the Y chromosome is a very specific secondary aberration of the t(8;21). This is the second described case of a de novo AML M2 with t(16;21)(q24;q22) in childhood AML (Jeandidier E et al., 2006).
Internal links
Atlas Cardt(16;21)(q24;q22)
Case Reportt(16;21)(q24;q22) in therapy-related acute myelogenous leukemia arising from myelodysplastic syndrome
Case ReportA new case of t(16;21)(q24;q22) in a secondary AML-M2 following breast cancer therapy
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PMID 17126398
Huret JL
Atlas Genet Cytogenet Oncol Haematol..

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