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The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1

The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1
The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1
The 8p11 myeloproliferative syndrome (EMS) also known as stem cell leukemia-lymphoma syndrome (SCLL) is associated with translocations that disrupt FGFR1. The resultant fusion proteins are constitutively active tyrosine kinases, and different FGFR1 fusions are associated with subtly different disease phenotypes. We report here a patient with a t(8;17)(p11;q23) and an unusual myelodysplastic/myeloproliferative disease (MDS/MPD) characterized by thrombocytopenia due to markedly reduced size and numbers of megakaryocytes, with elevated numbers of monocytes, eosinophils and basophils. A novel mRNA fusion between exon 32 of the myosin XVIIIA gene (MYO18A) at chromosome band 17q11 and exon 9 of FGFR1 was identified. Partial characterization of the genomic breakpoints in combination of bubble-PCR with fluorescence in situ hybridization revealed that the t(8;17) arose from a three-way translocation with breaks at 8p11, 17q11 and 17q23. MYO18A-FGFR1 is structurally similar to other fusion tyrosine kinases and is likely to be the causative transforming lesion in this unusual MDS/MPD.
aged, chromosomes, human, pair 17, type 1, myeloproliferative disorders, syndrome, megakaryocytes, non U.S.gov't, translocation, Germany, fibroblast growth factor, humans, in situ hybridization, amino acid sequence, protein, thrombocytopenia, monocytes, female, base sequence, growth, fluorescence, receptor protein-tyrosine kinases, proteins, phenotype, disease, receptors, basophils, report, genetic, myosins, research support, molecular sequence data, eosinophils, protein-tyrosine kinase, pair 8, receptor, genetics, pathology, tyrosine
0887-6924
1005-1009
Walz, C.
03a7b61b-bebd-4510-8f08-ec6b65a36809
Chase, A.
a40a09c2-3073-4655-ba0b-a802e34914b5
Schoch, C.
07219c0e-6419-40da-bd67-1edbef6f1f77
Weisser, A.
63845a71-d2fd-474a-bbe1-3d32fff5f32a
Schlegel, F.
dfca13e4-d2d0-40ce-920d-4faa0eaa196f
Hochhaus, A.
4c0b9da4-adfa-4253-8af7-78cec9e9a24f
Fuchs, R.
5a5d3fe9-06f4-42ee-b1f8-579ff4c1ca0f
Schmitt-Graff, A.
f1a96a2d-507a-44e4-9c99-43ecba940a21
Hehlmann, R.
753d719b-7bf8-4f74-bfdc-6d5d47e5d2c7
Cross, N.C.
f87650da-b908-4a34-b31b-d62c5f186fe4
Reiter, A.
8fc082eb-6b46-4412-86b2-f4c7669f0650
Walz, C.
03a7b61b-bebd-4510-8f08-ec6b65a36809
Chase, A.
a40a09c2-3073-4655-ba0b-a802e34914b5
Schoch, C.
07219c0e-6419-40da-bd67-1edbef6f1f77
Weisser, A.
63845a71-d2fd-474a-bbe1-3d32fff5f32a
Schlegel, F.
dfca13e4-d2d0-40ce-920d-4faa0eaa196f
Hochhaus, A.
4c0b9da4-adfa-4253-8af7-78cec9e9a24f
Fuchs, R.
5a5d3fe9-06f4-42ee-b1f8-579ff4c1ca0f
Schmitt-Graff, A.
f1a96a2d-507a-44e4-9c99-43ecba940a21
Hehlmann, R.
753d719b-7bf8-4f74-bfdc-6d5d47e5d2c7
Cross, N.C.
f87650da-b908-4a34-b31b-d62c5f186fe4
Reiter, A.
8fc082eb-6b46-4412-86b2-f4c7669f0650

Walz, C., Chase, A., Schoch, C., Weisser, A., Schlegel, F., Hochhaus, A., Fuchs, R., Schmitt-Graff, A., Hehlmann, R., Cross, N.C. and Reiter, A. (2005) The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1. Leukemia, 19 (6), 1005-1009. (doi:10.1038/sj.leu.2403712).

Record type: Article

Abstract

The 8p11 myeloproliferative syndrome (EMS) also known as stem cell leukemia-lymphoma syndrome (SCLL) is associated with translocations that disrupt FGFR1. The resultant fusion proteins are constitutively active tyrosine kinases, and different FGFR1 fusions are associated with subtly different disease phenotypes. We report here a patient with a t(8;17)(p11;q23) and an unusual myelodysplastic/myeloproliferative disease (MDS/MPD) characterized by thrombocytopenia due to markedly reduced size and numbers of megakaryocytes, with elevated numbers of monocytes, eosinophils and basophils. A novel mRNA fusion between exon 32 of the myosin XVIIIA gene (MYO18A) at chromosome band 17q11 and exon 9 of FGFR1 was identified. Partial characterization of the genomic breakpoints in combination of bubble-PCR with fluorescence in situ hybridization revealed that the t(8;17) arose from a three-way translocation with breaks at 8p11, 17q11 and 17q23. MYO18A-FGFR1 is structurally similar to other fusion tyrosine kinases and is likely to be the causative transforming lesion in this unusual MDS/MPD.

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More information

Published date: 2005
Keywords: aged, chromosomes, human, pair 17, type 1, myeloproliferative disorders, syndrome, megakaryocytes, non U.S.gov't, translocation, Germany, fibroblast growth factor, humans, in situ hybridization, amino acid sequence, protein, thrombocytopenia, monocytes, female, base sequence, growth, fluorescence, receptor protein-tyrosine kinases, proteins, phenotype, disease, receptors, basophils, report, genetic, myosins, research support, molecular sequence data, eosinophils, protein-tyrosine kinase, pair 8, receptor, genetics, pathology, tyrosine

Identifiers

Local EPrints ID: 60389
URI: http://eprints.soton.ac.uk/id/eprint/60389
ISSN: 0887-6924
PURE UUID: 43ce9c1a-f17a-4fac-980d-64b9d2306ecb
ORCID for A. Chase: ORCID iD orcid.org/0000-0001-6617-9953
ORCID for N.C. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 05 Sep 2008
Last modified: 16 Mar 2024 03:23

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Contributors

Author: C. Walz
Author: A. Chase ORCID iD
Author: C. Schoch
Author: A. Weisser
Author: F. Schlegel
Author: A. Hochhaus
Author: R. Fuchs
Author: A. Schmitt-Graff
Author: R. Hehlmann
Author: N.C. Cross ORCID iD
Author: A. Reiter

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