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  

Dipl.-Biol., Fachhumangenetikerin GfH, Oncogenetic Laboratory, Dept. Ped. Hematology / Oncology, Schlangenzahl 14, 35385 Giessen, Germany (JB)

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
10 yrs
Sex
M
Liver
+
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
34
Hb
8,2
Platelets
57
Blasts
92
Bone marrow
94

Cyto path

Cytology
M2 without Auer rods; Peroxidase (+) esterase (+)
Immunophenotype
CD13+, CD33+
Pathology
-
Electron microscopy
-
Precise diagnosis
ANLL M2

Survival data

Date diagnosis
06-2007
Treatment
AML BFM Protocol (high risk)
Complete remission
+
Treatment relat death
-
Relapse
-
Status
A
Date last follow
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 molec 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+)

Images

Atlas Image
GTG-banded chromosomes which are representing the trisomy 8 and the t(16;21).
Atlas Image
DAPI stained and inverted metaphase which shows three signals for ETO (red) and three signals for AML1 (green, one signal splitted).

Comments section

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).

Bibliography

Pubmed IDLast YearTitleAuthors
27583951989Cytogenetics of childhood acute nonlymphocytic leukemia.Raimondi SC et al
89320001996Secondary acute myeloblastic leukemia with t(16;21) (q24;q22). involving the AML1 gene.Berger R et al
112244962001AML1/MTG16 fusion gene from a t(16;21)(q24;q22) translocation in treatment-induced leukemia after breast cancer.La Starza R et al
119995782002A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene.Kondoh K et al
78191021994Metaphase fluorescence in situ hybridization (FISH) in the follow-up of 60 patients with haemopoietic malignancies.Nylund SJ et al
80438771994Clonal karyotypic hematopoietic cell abnormalities occurring after autologous bone marrow transplantation for Hodgkin's disease and non-Hodgkin's lymphoma.Traweek ST et al
92167141997A recurrent translocation, t(16;21)(q24;q22), associated with acute myelogenous leukemia: identification by fluorescence in situ hybridization.Shimada M et al
96315851998A 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 et al
109950192000AML1-MTG16 fusion gene in therapy-related acute leukemia with t(16;21)(q24;q22): two new cases.Salomon-Nguyen F et al
166161062006Abnormalities 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 et al
171263982007A patient with de novo AML M1 and t(16;21) with karyotype evolution.Zatkova A et al

Citation

Jutta Bradtke, Peter Vorwerk, Jochen Harbott

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. 2007-11-01

Online version: http://atlasgeneticsoncology.org/case-report/208829/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)