| 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 |
| 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 |
| 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 |
| External links |
| Other database | t(8;17)(p12;q23) | Mitelman database (CGAP - NCBI) | |
| Other database | t(8;17)(p12;q23) | CancerChromosomes (NCBI) |
| 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 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 |
| 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 |
| 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 |
| Contributor(s) |
| Written | 12-2007 | Jean-Loup Huret |
| Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(8;17)(p12;q23). Atlas Genet Cytogenet Oncol Haematol. December 2007 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0817p12q23ID1387.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:41 2008 |
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