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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| PMID 2758395 |
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| PMID 8932000 |
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| PMID 11224496 |
| A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene. |
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| PMID 7819102 |
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| PMID 9216714 |
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| PMID 9631585 |
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| PMID 10995019 |
| Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Francais de Cytogenetique Hematologique. |
| 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, Perot C, Van den Akker J, Gregoire MJ, Jonveaux P, Baranger L, Eclache Saudreau V, Pages MP, Cabrol C, Terre C, Berger R. |
| Cancer Genet Cytogenet 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. |
| Leuk Res 2007; 31(9): 1319-1321. Epub 2006 Nov 28. |
| PMID 17126398 |
| t(8;21)(q22;q22). |
| Huret JL |
| Atlas Genet Cytogenet Oncol Haematol. September 1997. http://AtlasGeneticsOncology.org/Anomalies/t0821.html |
| 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 : Thu Apr 17 14:15:26 2008 |
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