Download Leukaemia Section t(8;17)(p12;q23) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Short Communication
t(8;17)(p12;q23)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: December 2007
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0817p12q23ID1387.html
DOI: 10.4267/2042/44393
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology
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).
Clinics and pathology
Disease
Myeloproliferative disease (MPD)
Result of the chromosomal
anomaly
Phenotype/cell stem origin
The disease was characterized by thrombocytopenia
due to decreased and dysplastic megakaryocytes, an
elevated number of monocytes, eosinophils and
basophils.
Hybrid gene
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 9.
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.
Fusion protein
Genes involved and proteins
Description
1691 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.
FGFR1
Location
8p12
Protein
FGF receptor with tyrosine kinase activity; binding of
ligand
induces
receptor
dimerization,
autophosphorylation and signal transduction.
References
MYO18A
Isogawa Y, Kon T, Inoue T, Ohkura R, Yamakawa H, Ohara O,
Sutoh K. The N-terminal domain of MYO18A has an ATPinsensitive actin-binding site. Biochemistry. 2005 Apr
26;44(16):6190-6
Location
17q11.2
Protein
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
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(1)
Mori K, Matsuda K, Furusawa T, Kawata M, Inoue T, Obinata
M. Subcellular localization and dynamics of MysPDZ (Myo18A)
in live mammalian cells. Biochem Biophys Res Commun. 2005
Jan 14;326(2):491-8
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t(8;17)(p12;q23)
Huret JL
Walz C, Chase A, Schoch C, Weisser A, Schlegel F, Hochhaus
A, Fuchs R, Schmitt-Gräff A, Hehlmann R, Cross NC, Reiter A.
The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome
fuses MYO18A to FGFR1. Leukemia. 2005 Jun;19(6):1005-9
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(1)
This article should be referenced as such:
Huret JL. t(8;17)(p12;q23). Atlas Genet Cytogenet Oncol
Haematol. 2009; 13(1):81-82.
82