t(3;7)(q26;q21) as a secondary abnormality in MDS RAEB-2

Lena Reindl, Claudia Haferlach  

MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31, Germany

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
72 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
12.7
Hb
11.9
Platelets
70
Blasts
15
Bone marrow
15 The hypercellular bone marrow shows 15% blasts and multilineage dyplasias. Granulopoesis shows significant dysplasia and dyplasias were also found in the decreased erythropoiesis and thrombopoiesis. No Auer rods were detected.

Cyto path

Cytology
MDS RAEB-2
Immunophenotype
12% myeloid blasts CD33+, CD117+; 31% hypogranulated granuloyctes; 11% monocytes CD56+.

Survival data

Date diagnosis
07-2008
Status
Lost

Karyotype

Sample
bone marrow
Culture time
24 - 72h
Banding
GAG
Results
46,XY,del(20)(q11) [2]/46,XY,idem, t(3;7)(q26;q21)[14].
Mol cytogenet technics
FISH with commercial EVI/3q26 probe (Kreatech).
Mol cytogenet results
65% cells with EVI-rearrangement.

Images

Atlas Image
Partial GTG-karyotype showing t(3;7)(q26;q21).
Atlas Image
EVI1 break-apart probe on metaphase chromosomes, one green signal left on derivatives chromosome 3 and one yellow signal is located on derivative chromosome 7.
Atlas Image
Whole chromosome painting, WCP#3 yellow, WCP#7 red and WCP#20 green.

Comments section

Comments
5 cases with t(3;7)(q26;q21) were described so far in literature. 4 cases showed chronic myeloid leukemia with t(3;7)(q26;q21) as a additional aberration to t(9;22)(q34;q11) (Storlazzi et al., 2004; Henzan et al., 2004; Bobadilla et al., 2007; Tien et al., 1989). One case suffered from acute myeloid leukemia (NOS) and had a trisomy 13 as additional aberration to t(3;7)(q26;q21) (Madrigal et al., 2006). The here described case - a 72-year-old male - had a MDS RAEB-2 (FAB) and the t(3;7)(q26;q21) was found as additional aberration to a 20q-deletion. So in this case for the first time a t(3;7)(q26;q21) was found in MDS and the translocation appears also as secondary aberration as seen in 4 cases with CML before.
Call for collab
Lena.reind@mll-online.com

Bibliography

Pubmed IDLast YearTitleAuthors
27311521989Chromosomal characteristics of Ph-positive chronic myelogenous leukemia in transformation. A study of 23 Chinese patients in Taiwan.Tien HF et al
153227642004Myeloid/natural killer cell blast crisis representing an additional translocation, t(3;7)(q26;q21) in Philadelphia-positive chronic myelogenous leukemia.Henzan H et al
145517382004A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1.Storlazzi CT et al
170119812006Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangements.Madrigal I et al
173412662007An interphase fluorescence in situ hybridisation assay for the detection of 3q26.2/EVI1 rearrangements in myeloid malignancies.Bobadilla D et al

Citation

Lena Reindl, Claudia Haferlach

t(3;7)(q26;q21) as a secondary abnormality in MDS RAEB-2

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/case-report/208840/t(3;7)(q26;q21)-as-a-secondary-abnormality-in-mds-raeb-2