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(Paper co-edited with the European LeukemiaNet)
A Case of Myelodysplastic Syndrome with a Translocation t(1;12)(p36;p13)
Written2008-08Ulrike 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)
Age and sex : 46 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 1.9 x 109/L ; Hb : 10.4 g/dL ; platelets : 42 x 109/L; blasts : - % .
Bone marrow : Hypercellular, trilineage dysplasia, blasts <5%
Cyto pathology classification
Precise diagnosis : Myelodysplastic syndrome - subtype refractory anemia cytopenia with multilineage dysplasia (MDS - RCMD) according to the WHO classification.
Date of 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 : None
Treatment related 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 : Dead
Survival : 3 month(s)
Sample : Bone marrow ; culture time : 24 h, , 48 hours ; banding : Giemsa
Results : 46,XY,t(1;12)(p36;p13) [9]; 46,XY [11]
Other molecular cytogenetics 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.
Other molecular cytogenetics 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.
See above
Two our knowledge so far two cases with a t(1;12)(p36;p13) were described in the literature. The first reported case suffered from chronic myeloid leukemia (CML) (Vassallo et al., 1993). The second patient, a 66-old female, showed MDS in transformation (RAEB-T) and rapidly proceeded to secondary acute myeloid leukemia (AML) (Oedro et al., 2002). The here reported case - a 46 year old male - had MDS in an initial stage (RCMD). Treatment was performed by upfront allogeneic stem cell transplantation unfortunately followed by severe complications with hemolysis and intestinal bleeding resulting in early transplant-associated mortality.
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 collaboration
PD Dr. med. Claudia Haferlach
MLL, Munich Leukemia Laboratory
Max-Lebsche-Platz 31
81377 Munich
Internal links
Atlas Cardt(1;12)(p36;p13)
Granulocytic sarcoma of the larynx preceding chronic myeloid leukemia.
Vassallo J, Altemani AM, Cardinalli IA, Crespo AN, Lima CS, Eid KA, Souza CA.
Pathol Res Pract. 1993 Nov;189(9):1084-6; discussion 1086-9.
PMID 8302728
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, Vizmanos JL, Roman JP, Lahortiga I, Panizo C, Calasanz MJ, Zeleznik-Le NJ, Rowley JD, Novo FJ.
Genes Chromosomes Cancer. 2002 Sep;35(1):11-9.
PMID 12203785


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