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t(5;17)(q33;p13) RABEP1/PDGFRB

Written2008-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2015-07Molly C. Schroeder, Shashirekha Shetty
The Center for Human Genetics Laboratory, University Hospitals, Cleveland, Ohio, USA; Robert J. Tomisch Pathology, Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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. Rare occurrence of lymphoid and mixed MLNs with abnormalities of PDGFRB has been reported in two cases. 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.

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ICD-Morpho 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1328
  t(5;17)(q33;p13) in G-banded chromosomes.

Clinics and Pathology

Disease Chronic myelomonocytic leukemia (CMML) and myeloid and lymphoid neoplasm (MLN) with mixed myeloproliferative/myelodysplastic features and (T-LBL).
Note One case of aneurysmal bone cyst with t(5;17)(q33;p13) RABEP1/PDGFRB has also been described.
Ondrejka et al., 2014 also reports a second case of MLN with eosinophilia and PDGFRB rearrangement, a 38 year old male. This patient exhibited T-LBL and an unclassifiable myeloproliferative neoplasm. A sole cytogenetic abnormality, t(5;6)(q22;q21), was observed. Molecular studies revealed a novel C6orf204-PDGFRB fusion.
Phenotype / cell stem origin Pluripotent hematopoetic stem cell in the MLN case.
Epidemiology One case of CMML with t(5;17)(q33;p13) to date: a male patient aged 29 at diagnosis (Magnusson et al., 2001 and Magnusson et al., 2002) and one case of t(5;17)(q33;p13) in MLN with mixed features and T-LBL : male, 64 years of age at diagnosis (Ondrejka et al., 2014).
Clinics Massive splenomegaly, anemia, mild thrombocytopenia, leukocytosis comprised primarily of neutrophils and monocytes in the CMML patient (Magnusson et al., 2001, Magnusson et al., 2002); splenomegaly and diffuse adenopathy, anemia, thrombocytopenia, mild eosinophilia in the MLN patient (Ondrejka et al., 2014).
Cytology CMML case: hypercellular bone marrow with left shift (Magnusson et al., 2001).
Pathology MLN case: T lymphoblasts were positive by flow cytometery for CD1a, CD2, CD3, CD4, CD5, CD7, CD8, CD10, CD38, and CD45. Bone marrow biopsy was hypercellular and demonstrated features of a myeloid neoplasm with mixed myeloproliferative/myelodysplastic features and no T-LBL involvement. Marrow displayed abnormal granulocytic maturation, mild dyserythropoiesis, and atypical, small megakaryocytes (Ondrejka et al., 2014).
Treatment CMML case: Allogeneic stem cell transplant from HLA-matched sibling (Magnusson et al., 2002). Relapsed 15 months after SCT. Received STI571 treatment and achieved molecular remission by 6 weeks, which was maintained for 6 months at time of report (Magnusson et al., 2002). MLN case: Vincristine/prednisone-based induction. Imatinib treatment for 18 days, then ceased due to drug intolerance. Patient opted for hospice care (Ondrejka et al., 2014).


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.
Probes LPH031-A, CytoCell, Cambridge, UK. RP11-457I18, Blue Gnome, Cambridge, UK.
Additional anomalies Reported only as a sole anomaly.
Variants PDGFRB is involved in rearrangements with numerous other translocation partners.

Genes involved and Proteins

Gene Name PDGFRB
Location 5q33.1
Note chr5:150,113,839-150,155,859 (hg38)
  PDGFRB transcripts, from NCBI Gene report for Gene ID: 5159, updated 12-May-2015.
Dna / Rna Gene is 42 kb and contains 26 exons. Transcription occurs in telomere to centromere orientation. 5 transcripts are reported.
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)
  RABEP1 transcripts, from NCBI Gene report for Gene ID: 9135, updated 4-May-2015.
Dna / Rna Gene is 103 kb and contains 20 exons. Transcription occurs in centromere to telomere orientation. 6 transcripts are reported.
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
  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).

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.


Activity of STI571 in chronic myelomonocytic leukemia with a platelet-derived growth factor ? receptor fusion oncogene.
Magnusson MK, Meade KE, Nakamura R, Barrett J, Dunbar CE.
Blood 2002; 100: 1088-1091.
PMID 12130532
PDGRFB-rearranged T-lymphoblastic leukemia/lymphoma occurring with myeloid neoplasms: the missing link supporting a stem cell origin.
Ondrejka SL, Jegalian AG, Kim AS, Chabot-Richards DS, Giltnane J, Czuchlewski DR, Shetty S, Sekeres MA, Yenamandra A, Head D, Jagasia M, Hsi ED.
Haematologica 2014; 99: 145-151.
PMID 24951465


This paper should be referenced as such :
Schroeder MC, Shetty S
t(5;17)(q33;p13) RABEP1/PDGFRB;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :
History of this paper:
Huret, JL. t(5;17)(q33;p13). Atlas Genet Cytogenet Oncol Haematol. 2009;13(10):744-744.

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


Translocations implicated (Data extracted from papers in the Atlas)

 t(5;17)(q33;p13) RABEP1/PDGFRB

External links

RABEP1 (17p13.2) PDGFRB (5q32)

Mitelman databaset(5;17)(q33;p13) [Case List]    t(5;17)(q33;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9966/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseRABEP1/PDGFRB [MCList]  RABEP1 (17p13.2) PDGFRB (5q32)
Disease databaset(5;17)(q33;p13) RABEP1/PDGFRB
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Wed Jan 18 15:21:46 CET 2017

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