A Case of Myelodysplastic Syndrome with a Translocation t(1;12)(p36;p13)

Ulrike Bacher, Torsten Haferlach, Claudia Haferlach  

Interdisciplinary Clinic for Stem Cell Transplantation, University of Hamburg, Martinistr. 52, 20246 Germany (UB); MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377 Munich, Germany (TH, CH)

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

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

Blood data

Wbc
1.9
Hb
10.4
Platelets
42
Blasts
-
Bone marrow
Hypercellular, trilineage dysplasia, blasts <5%

Cyto path

Precise diagnosis
Myelodysplastic syndrome - subtype refractory anemia cytopenia with multilineage dysplasia (MDS - RCMD) according to the WHO classification.

Survival data

Date diagnosis
03-2008
Treatment
Allogeneic stem cell transplantation from an HLA-mismatched unrelated donor as first-line strategy (peripheral stem cell transplantation; PBSCT) after a dose reduced conditioning regimen (fludarabine, amsacrine, cytarabine, busulfane) in combination with thymoglobuline.
Complete remission
-
Treatment relat death
yes (transplant associated mortality, TRM) (day +15 after allogeneic transplantation). (Cause of death: severe hemolysis after ABO minor mismatched allo-transplantation; suspicion of thrombotic thrombocytopenic purpura (TTP) in association to cyclosporine A for immunosuppression; intestinal bleeding of unclear origin).
Relapse
not applicable due to early death after transplantation.
Status
D
Survival
3 months from diagnosis of MDS.

Karyotype

Sample
Bone marrow
Culture time
24 , 48 hours
Banding
Giemsa
Results
46,XY,t(1;12)(p36;p13) [9]; 46,XY [11]
Mol cytogenet technics
See Figure 1: Fluorescence in situ hybridization with probes flanking the breakpoints within the ETV6 gene demonstrating an ETV6 rearrangement (left) and in a second hybridization with whole chromosome painting probes for chromosome 1 (red) and chromosome 12 (green) on the same metaphase.
Mol cytogenet results
No evidence of the FLT3-ITD/LM (internal tandem duplication/length mutation), NRAS-mutation, or MLL-PTD (partial tandem duplication) by polymerase chain reaction (PCR) analyses.

Images

Atlas Image
See above
Atlas Image

Comments section

Comments
So far, the prognostic impact of the t(1;12)(p36;p13)/ETV6-TEL cannot be determined. As the respective translocation is difficult to detect in chromosome banding analyses, the true frequency might be higher than actually thought.
Call for collab
Claudia.haferlach@mll-online.com

Article Bibliography

Pubmed IDLast YearTitleAuthors
83027281993Granulocytic sarcoma of the larynx preceding chronic myeloid leukemia.Vassallo J et al
122037852002A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.Odero MD et al

Citation

Ulrike Bacher, Torsten Haferlach, Claudia Haferlach

A Case of Myelodysplastic Syndrome with a Translocation t(1;12)(p36;p13)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/case-report/208838/css/favicon/js/lib/gene-explorer/