t(8;17)(p11;q23) MYO18A/FGFR1

2007-12-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

Myeloproliferative disease (MPD)

Phenotype stem cell origin

The disease was characterized by thrombocytopenia due to decreased and dysplastic megakaryocytes, an elevated number of monocytes, eosinophils and basophils.

Epidemiology

Only one case to date, a 74 year old female patient

Clinics

The patient remained in a stable condition for 2 years and finally died due to treatment-resistant disease progression.

Genes Involved and Proteins

Gene name
FGFR1 (Fibroblast Growth Factor Receptor 1)
Location
8p11.23
Protein description
FGF receptor with tyrosine kinase activity; binding of ligand induces receptor dimerization, autophosphorylation and signal transduction
Gene name
MYO18A (myosin XVIIIA)
Location
17q11.2
Protein description
member of the myosin family. MYO18A, also called MysPDZ, contains from N-term a KE-rich domain, an ATP-insensitive actin-binding site (able to link to actin), a PDZ domain, a myosin head, an IQ motif, a coiled-coil domain, and a globular domain in C-term. This myosin might stably cross link actin filaments for high order organization of the actin cytoskeleton (Isogawa et al 2005).

Result of the Chromosomal Anomaly

Note

The two genes are transcribed in opposite diraction, and an inversion is necessary to produce the hybrid gene and protein.

Description

5 MYO18A - 3 FGFR1; fusion of MYO18A exon 32 to FGFR1 exon 91691 amino acids from MYO18A, including the PDZ protein-protein interaction domain, the myosin head domain, and a coiled-coil domain, fused to 394 amino acids from FGFR1, including part of its juxta membrane domain, and its tyrosine kinase domain; may induce dimerization, and constitutive signal transduction

Bibliography

Pubmed IDLast YearTitleAuthors
158359062005The N-terminal domain of MYO18A has an ATP-insensitive actin-binding site.Isogawa Y et al
155826042005Subcellular localization and dynamics of MysPDZ (Myo18A) in live mammalian cells.Mori K et al
158006732005The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1.Walz C et al

Summary

Fusion gene

MYO18A/FGFR1 MYO18A (17q11.2) FGFR1 (8p11.23) M t(8;17)(p11;q11)

Citation

Jean-Loup Huret

t(8;17)(p11;q23) MYO18A/FGFR1

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1387/t(8;17)(p11;q23)-myo18a-fgfr1

External Links