Waldenstroms macroglobulinemia (published in 2002)

2008-02-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
2.Hematology Section, Department of Biomedical Sciences, University of Ferrara, Corso Giovecca 203, Ferrara, Italy

Clinics and Pathology

Disease

Acute myeloid leukaemia (AML)

Epidemiology

Only one case to date

Clinics

The patient was a 75 year old male patient with a myeloproliferative syndrome (MPS) in transformation to AML. The MPS was a 8p11 myeloproliferative syndrome (EMS)

Genes Involved and Proteins

Note
RUNX1 was involved in the translocation. RUNX1, also called AML1 or CBFA2, is a transcription factor, critical regulator of hematopoietic-cell development, involved in many de novo and treatment related leukaemias.
The exons 1-4 of RUNX1 were fused to repetitive sequences from chromosome 9, adding 70 amino acids to RUNX1 exon 4 encoding sequences, resulting in a truncated RUNX1.
The t(9;21)/RUNX1 involvement may be responsible for the transformation of the EMS.

Bibliography

Pubmed IDLast YearTitleAuthors
173941342007Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome.Agerstam H et al
117469712001Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL.Fioretos T et al

Citation

Jean-Loup Huret

Waldenstroms macroglobulinemia (published in 2002)

Atlas Genet Cytogenet Oncol Haematol. 2008-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1483/waldenstroms-macroglobulinemia-(published-in-2002)

Historical Card

2002-01-01 Waldenstroms macroglobulinemia (published in 2002) by  Antonio Cuneo,Gianluigi Castoldi 

Hematology Section, Department of Biomedical Sciences, University of Ferrara, Corso Giovecca 203, Ferrara, Italy