Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (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) |
| Jutta Bradtke, Peter Vorwerk, Jochen Harbott |
| Clinics |
| 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 |
| Blood |
| WBC : 34 x 109/l; Hb : 8,2 g/dl; 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 |
| Survival |
| Date of diagnosis: 06-2007 |
| Treatment : AML BFM Protocol (high risk) |
| Complete remission was obtained |
| Treatment related death : - |
| Relapse : - |
| Status : Alive 09-2007 |
| Karyotype |
| 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). |
| Comments |
| 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 |
| Bibliography |
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| Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Franˆßais de Cytogˆ©nˆ©tique Hˆ©matologique. |
| Jeandidier E, Dastugue N, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Herens C, Michaux L, Verellen-Dumoulin C, Talmant P, Cornillet-Lefebvre P, Luquet I, Charrin C, Barin C, Collonge-Rame MA, Pˆ©rot C, Van den Akker J, Grˆ©goire MJ, Jonveaux P, Baranger L, Eclache-Saudreau V, Pagˆ®s MP, Cabrol C, Terrˆ© C, Groupe Franˆßais de Cytogˆ©nˆ©tique Hˆ©matologique (GFCH), Berger R |
| Cancer genetics and cytogenetics. 2006 ; 166 (1) : 1-11. |
| PMID 16616106 |
| A patient with de novo AML M1 and t(16;21) with karyotype evolution. |
| Zatkova A, Fonatsch C, Sperr WR, Valent P |
| Leukemia research. 2007 ; 31 (9) : 1319-1321. |
| PMID 17126398 |
| t(8;21)(q22;q22). |
| Huret JL |
| Atlas Genet Cytogenet Oncol Haematol.. |
| Contributor(s) |
| Written | 11-2007 | Jutta Bradtke, Peter Vorwerk, Jochen Harbott |
| Citation |
| This paper should be referenced as such : |
| Bradtke J, Vorwerk P, Harbott J . 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). Atlas Genet Cytogenet Oncol Haematol. November 2007 . URL : http://AtlasGeneticsOncology.org/Reports/1621BradtkeID100031.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Aug 11 21:22:56 2008 |
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