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Bone: Aneurysmal bone cyst with t(5;17)(q33;p13) RABEP1/PDGFRB

Written2015-07Molly C. Schroeder, Shashirekha Shetty
The Center for Human Genetics Laboratory, University Hospitals, Cleveland, Ohio, USA Molly.Schroeder@alumni.bcm.edu; Robert J. Tomisch Pathology, Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA. shettys@ccf.org

(Note : for Links provided by Atlas : click)

Abstract

Abstract The t(5;17)(q33;p13) rearrangement has been observed as sole cytogenetic abnormality in one case of chronic myelomonocytic leukemia, a soft-tissue aneurysmal bone cyst, and a case of myeloid and lymphoid neoplasms (MLNs) with eosinophilia. The t(5;17)(q33;p13) generates a fusion gene, located on the rearranged chromosome 5, comprised of the 5' portion of RABEP1 (encoding the coiled-coil domain) and the 3' portion of PDGFRB (encoding the intracellular kinase domain). Expression of the resulting fusion protein has been demonstrated to cause myeloproliferative disease in mice.

Identity

ICD-Topo C400-C403,C408-C414,C418-C419
Atlas_Id 6977
Phylum Bones: tumors of undefined neoplastic nature: Aneurysmal bone cyst
t(5;17)(q33;p13) in G-banded chromosomes.

Clinics and Pathology

Disease Aneurysmal bone cyst (primary)
Note t(5;17)(q33;p13) RABEP1/PDGFRB in hematological malignancies has also been described.
Epidemiology One case of aneurysmal bone cyst with t(5;17)(q33;p13) to date: a white female patient who was 10 years old at diagnosis (Ellison et al., 2007).
Clinics Patient developed limp and contracture after a fall down stairs. MRI revealed a cystic mass soft-tissue mass in posterior medial aspect of the left thigh (Ellison et al., 2007).
Cytology Fibrous tissue and multinucleated giant cells observed on frozen section (Ellison et al., 2007).
Pathology Mass of fibrous tissue with areas of bone rimmed with bony trabeculae (Ellison et al., 2007).
Treatment Resection

Cytogenetics

Cytogenetics
Morphological
Cytogenetic analysis has revealed t(5;17)(q33;p13) as a sole abnormality.
Cytogenetics Molecular Metaphase FISH analysis with PDGFRB break apart probe reveals rearrangement of 5q33, interphase FISH with probe encompassing RABEP1 locus reveals rearrangement of 17p13. Reported only as a sole anomaly.
Probes LPH031-A, CytoCell, Cambridge, UK. RP11-457I18, Blue Gnome, Cambridge, UK.

Genes involved and Proteins

Gene Name PDGFRB
Location 5q33.1
Note chr5:150,113,839-150,155,859 (hg38)
Dna / Rna Gene is 42 kb and contains 26 exons. Transcription occurs in telomere to centromere orientation. 5 transcripts are reported.
PDGFRB transcripts, from NCBI Gene report for Gene ID: 5159, updated 12-May-2015.
Protein PDGRFB encodes a tyrosine kinase receptor that is located on the plasma membrane and is activated by binding of members of the platelet-derived growth factor family of proteins. The product of the largest transcript is 1106 amino acids. Composed from NH2 to COOH of: Ig-like extracellular domains, a transmembrane domain, and a cytosolic tyrosine kinase domain.

Gene Name RABEP1
Location 17p13.2
Note chr17: 5,282,263-5,385,812 (hg38)
Dna / Rna Gene is 103 kb and contains 20 exons. Transcription occurs in centromere to telomere orientation. 6 transcripts are reported.
RABEP1 transcripts, from NCBI Gene report for Gene ID: 9135, updated 4-May-2015.
Protein RABEP1 encodes a protein involved in endocytic membrane fusion and the trafficking of recycling endosomes. The product of the largest transcript is 826 amino acids and contains coiled-coil domains, a NH2-terminal RAB4 binding site, and a COOH-terminal RAB5 binding site.

Result of the chromosomal anomaly

Hybrid Gene
Description 5' RABEP1- 3' PDGFRb; no reciprocal transcript.
Fusion Protein
Description A schematic of the fusion transcript generated by the t(5;17)(q33;p13) rearrangement. Modified from Magnusson et al., 2001.
Description 1318 amino acid fusion protein, including the first 739 aa of RABEP1 fused to the transmembrane and cytosolic tyrosine kinase domains of PDGFRB.
Oncogenesis Expression of the fusion protein via infection with a MSCV-based retroviral plasmid was sufficient to transform Ba/F3 cells such that they grew independent of IL-3 (Magnusson et al., 2001). Expression of the fusion gene in murine bone marrow cells transplanted into lethally irradiated mice caused development of fatal myeloproliferative disorder (Magnusson et al., 2001).
  

Bibliography

Soft-Tissue Aneurysmal Bone Cyst: Report of a Case with t(5:17)(q33;p13).
Ellison DA, Sawyer JR, Parham DM, Nicholas R.
Pediatric and Developmental Pathology 2007; 10: 46-49.
PMID 17378626
 
Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia.
Magnusson MK, Meade KE, Brown KE, Arthur DC, Krueger LA, Barrett AJ, Dunbar CE.
Blood. 2001 Oct 15;98(8):2518-25.
PMID 11588050
 

Citation

This paper should be referenced as such :
Schroeder MC, Shetty S
Bone: Aneurysmal bone cyst with t(5;17)(q33;p13) RABEP1/PDGFR
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Tumors/t0517q33p13BoneCystID6977.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(5;17)(q33;p13) RABEP1/PDGFRB

External links

Mitelman database t(5;17)(q33;p13) RABEP1/PDGFRB [Case List]    t(5;17)(q33;p13) RABEP1/PDGFRB [Association List] Mitelman database (CGAP - NCBI)
arrayMap arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseRABEP1/PDGFRB[MCList]    RABEP1 (17p13.2) PDGFRB (5q32)   t(5;17)(q32;p13)
 
Disease databaseBone: Aneurysmal bone cyst with t(5;17)(q33;p13) RABEP1/PDGFRB
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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