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

Written2007-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9967/3 Myeloid and lymphoid neoplasms with FGFR1 rearrangement
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1387

Clinics and Pathology

Disease Myeloproliferative disease (MPD)
Phenotype / cell stem 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
Location 8p12
Protein FGF receptor with tyrosine kinase activity; binding of ligand induces receptor dimerization, autophosphorylation and signal transduction
Gene Name MYO18A
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 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

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
  
Fusion Protein
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
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

The N-terminal domain of MYO18A has an ATP-insensitive actin-binding site.
Isogawa Y, Kon T, Inoue T, Ohkura R, Yamakawa H, Ohara O, Sutoh K.
Biochemistry. 2005 Apr 26;44(16):6190-6.
PMID 15835906
 
Subcellular localization and dynamics of MysPDZ (Myo18A) in live mammalian cells.
Mori K, Matsuda K, Furusawa T, Kawata M, Inoue T, Obinata M.
Biochem Biophys Res Commun. 2005 Jan 14;326(2):491-8.
PMID 15582604
 
The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1.
Walz C, Chase A, Schoch C, Weisser A, Schlegel F, Hochhaus A, Fuchs R, Schmitt-Gräff A, Hehlmann R, Cross NC, Reiter A.
Leukemia. 2005 Jun;19(6):1005-9.
PMID 15800673
 

Citation

This paper should be referenced as such :
Huret, JL
t(8;17)(p12;q23)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(1):81-82.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0817p12q23ID1387.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes FGFR1

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;17)(p11;q23) MYO18A/FGFR1

External links

MYO18A (17q11.2) FGFR1 (8p11.23)

Mitelman databaset(8;17)(p11;q23) [Case List]    t(8;17)(p11;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9967/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseMYO18A/FGFR1 [MCList]  MYO18A (17q11.2) FGFR1 (8p11.23)
 
Disease databaset(8;17)(p11;q23) MYO18A/FGFR1
REVIEW articlesautomatic search in PubMed
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