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

2008-08-01 Ulrike Bacher, Torsten Haferlach, Claudia Haferlach Affiliation

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

Liver

Spleen

Lymph nodes

Cns involv

Blood data

Wbc

1.9

10.4

Platelets

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

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

See above

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

[email protected]

Article Bibliography

Pubmed ID	Last Year	Title	Authors
8302728	1993	Granulocytic sarcoma of the larynx preceding chronic myeloid leukemia.	Vassallo J et al
12203785	2002	A 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

External Links

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/a-case-of-myelodysplastic-syndrome-with-a-translocation-t(1

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