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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)
 
Written2007-11Jutta Bradtke, Peter Vorwerk, Jochen Harbott
Dipl.-Biol., Fachhumangenetikerin GfH, Oncogenetic Laboratory, Dept. Ped. Hematology / Oncology, Schlangenzahl 14, 35385 Giessen, Germany (JB)
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 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
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
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
Bibliography
Cytogenetics of childhood acute nonlymphocytic leukemia.
Raimondi SC, Kalwinsky DK, Hayashi Y, Behm FG, Mirro J Jr, Williams DL
Cancer genetics and cytogenetics. 1989 ; 40 (1) : 13-27.
PMID 2758395
 
Secondary acute myeloblastic leukemia with t(16;21) (q24;q22). involving the AML1 gene.
Berger R, Le Coniat M, Romana SP, Jonveaux P
Hematology and cell therapy. 1996 ; 38 (2) : 183-186.
PMID 8932000
 
AML1/MTG16 fusion gene from a t(16;21)(q24;q22) translocation in treatment-induced leukemia after breast cancer.
La Starza R, Sambani C, Crescenzi B, Matteucci C, Martelli MF, Mecucci C
Haematologica. 2001 ; 86 (2) : 212-213.
PMID 11224496
 
A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene.
Kondoh K, Nakata Y, Furuta T, Hosoda F, Gamou T, Kurosawa Y, Kinoshita A, Ohki M, Tomita Y, Mori T
Leukemia & lymphoma. 2002 ; 43 (2) : 415-420.
PMID 11999578
 
Metaphase fluorescence in situ hybridization (FISH) in the follow-up of 60 patients with haemopoietic malignancies.
Nylund SJ, Ruutu T, Saarinen U, Knuutila S
British journal of haematology. 1994 ; 88 (4) : 778-783.
PMID 7819102
 
Clonal karyotypic hematopoietic cell abnormalities occurring after autologous bone marrow transplantation for Hodgkin's disease and non-Hodgkin's lymphoma.
Traweek ST, Slovak ML, Nademanee AP, Brynes RK, Niland JC, Forman SJ
Blood. 1994 ; 84 (3) : 957-963.
PMID 8043877
 
A recurrent translocation, t(16;21)(q24;q22), associated with acute myelogenous leukemia: identification by fluorescence in situ hybridization.
Shimada M, Ohtsuka E, Shimizu T, Matsumoto T, Matsushita K, Tanimoto F, Kajii T
Cancer genetics and cytogenetics. 1997 ; 96 (2) : 102-105.
PMID 9216714
 
A case of therapy-related acute myeloblastic leukemia with t(16;21)(q24;q22) after chemotherapy with DNA-topoisomerase II inhibitors, etoposide and mitoxantrone, and the alkylating agent, cyclophosphamide.
Takeda K, Shinohara K, Kameda N, Ariyoshi K
International journal of hematology. 1998 ; 67 (2) : 179-186.
PMID 9631585
 
AML1-MTG16 fusion gene in therapy-related acute leukemia with t(16;21)(q24;q22): two new cases.
Salomon-Nguyen F, Busson-Le Coniat M, Lafage Pochitaloff M, Mozziconacci J, Berger R, Bernard OA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (9) : 1704-1705.
PMID 10995019
 
Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique.
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, Pérot C, Van den Akker J, Grégoire MJ, Jonveaux P, Baranger L, Eclache-Saudreau V, Pagès MP, Cabrol C, Terré C, Groupe Français de Cytogénétique Hématologique (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..
 

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