𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome

✍ Scribed by Effie K. Grand; Francis H. Grand; Andrew J. Chase; Fiona M. Ross; Martin M Corcoran; David G. Oscier; Nicholas C. P. Cross

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
429 KB
Volume
40
Category
Article
ISSN
1045-2257

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

The 8p11 myeloproliferative syndrome (EMS) is an aggressive hematological malignancy caused by the fusion of diverse partner genes to fibroblast growth factor receptor 1 (FGFR1). The partner proteins promote dimerization and ligand‐independent activation of FGFR1‐encoded tyrosine kinase, deregulating hemopoiesis in a manner analogous to BCR‐ABL in chronic myeloid leukemia. Here, we describe the identification of a new FGFR1 fusion gene in a patient who presented with T‐cell lymphoblastic lymphoma in conjunction with an acquired ins(12;8)(p11;p11p22). Initial FISH analysis and Southern blotting confirmed that FGFR1 was disrupted. Using 5′‐RACE PCR, we identified part of a novel gene, FGFR1OP, at chromosome band 12p11 that was fused to exon 9 of __FGFR1.__FGFR1OP2 is predicted to be translated into an evolutionarily conserved protein containing coiled‐coil domains but no other recognizable motifs. The presence of the chimeric gene was confirmed by RT‐PCR, genomic DNA PCR, and FISH. These data further support the central role of deregulated FGFR1 in the pathogenesis of EMS. © 2004 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

8p11 myeloproliferative syndrome with a
8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes
✍ Elena Belloni; Maurizio Trubia; Patrizia Gasparini; Carla Micucci; Cinzia Tapina 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 673 KB

## Abstract 8p11 myeloproliferative syndrome (EMS) is a clinical‐pathologic entity characterized by rearrangements involving the __FGFR1__ gene, which encodes a receptor tyrosine kinase. These rearrangements invariably lead to aberrant fusion proteins in which the kinase activity is constitutively

Fusion of the BCR and the fibroblast gro
Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: The first fusion gene involving BCR but not ABL
✍ Thoas Fioretos; Ioannis Panagopoulos; Carin Lassen; Agneta Swedin; Rolf Billströ 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB

## Abstract Constitutive activation of tyrosine kinases as a consequence of chromosomal translocations, forming fusion genes, plays an important role in the development of hematologic malignancies, in particular, myeloproliferative syndromes (MPSs). In this respect, the t(9;22)(q34;q11) that result

Fusion gene-mediated truncation of RUNX1
Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome
✍ Helena Ågerstam; Henrik Lilljebjörn; Carin Lassen; Agneta Swedin; Johan Richter; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 274 KB

## Abstract The 8p11 myeloproliferative syndrome (EMS) is a chronic myeloproliferative disorder molecularly characterized by fusion of various 5′ partner genes to the 3′ part of the fibroblast growth factor receptor 1 (__FGFR1__) gene at 8p, resulting in constitutive activation of the tyrosine kina

A novel gene, MDS2, is fused to ETV6/TEL
A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome
✍ María D. Odero; José L. Vizmanos; José P. Román; Idoya Lahortiga; Carlos Panizo; 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 658 KB

## Abstract __ETV6/TEL__ is the first transcription factor identified that is specifically required for hematopoiesis within the bone marrow. This gene has been found to have multiple fusion partners of which 16 have been cloned. Fluorescence in situ hybridization (FISH) analysis in a patient with

Identification of six novel WASP gene mu
Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome
✍ Rik A. Brooimans; Adriënne J.A.M van den Berg; Rienk Y.J. Tamminga; Tom Revesz; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

Mutation in the gene encoding the Wiskott-Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X-linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patie