t(8;17)(p11;q25) ?/FGFR1

2008-08-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

Chronic myelogenous leukemia-like (CML-like) disease without BCR-ABL1 rearrangement

Epidemiology

Only one case to date, a 29 year old female patient (Lewis et al., 1987; Sohal et al., 2001).

Clinics

The patient presented with a CML-like disease with systemic mastocytosis, in transformation to an aggressive disease.

Genes Involved and Proteins

Note
FGFR1 was found involved; the partner is unknown.
Gene name
FGFR1 (Fibroblast Growth Factor Receptor 1)
Location
8p11.23
Protein description
Receptor tyrosine kinase; contains an extracellular ligand-binding domain with Ig-like structures, a transmembrane domain, and a cytosolic tyrosine kinase (TK) domain. Involved in signal transduction.

Bibliography

Pubmed IDLast YearTitleAuthors
31180981987Mast cell disease followed by leukemia with clonal evolution.Lewis JP et al
115502832001Identification of four new translocations involving FGFR1 in myeloid disorders.Sohal J et al

Citation

Jean-Loup Huret

t(8;17)(p11;q25) ?/FGFR1

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1202/t(8;17)(p11;q25)

External Links