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t(5;10)(q33;q21) CCDC6::PDGFRB

Written2001-01Cristina Mecucci
Hematology, Policlinico Monteluce, Via Brunamonti, 06123 Perugia, Italy

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ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1166

Clinics and Pathology

Disease myeloid lineage
Phenotype / cell stem origin atypical chronic myeloid leukemia (CML), Philadelphia negative, bcr-abl negative with eosinophilia
Epidemiology only two cases available
Clinics massive splenomegaly in one case; some clinical features of accelerated CML
Cytology peripheral blood leukoerythroblastosis; bone marrow granulocytic hyperplasia, bone marrow fibrosis (grade III-IV reticulin), dry tap
Pathology extramedullary hemopoiesis in the spleen
Treatment control of disease by hydroxyurea in both cases


Cytogenetics Morphological cytogenetic result: add(5q), del(10q)

Genes involved and Proteins

Gene NamePDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location 5q32
Protein transmembrane and tyrosine kinase domains
Gene NameCCDC6 (coiled-coil domain containing 6)
Location 10q21.2
Protein carboxyterminal putative SH3 binding site; cytoskeletal protein?

Result of the chromosomal anomaly

Hybrid gene
Transcript H4-PDGFBR chimeric RNA constantly present

To be noted

Case Report A case of myeloproliferative disorder with t(5;10)(q33;q21.2) case


Anastasiadou E et al
Blood. 1999 ; 94 (supplement Suppl.1) : page 51.
Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21).
Kulkarni S, Heath C, Parker S, Chase A, Iqbal S, Pocock CF, Kaeda J, Cwynarski K, Goldman JM, Cross NC
Cancer research. 2000 ; 60 (13) : 3592-3598.
PMID 10910073
New reciprocal translocation t(5;10)(q33;q22) associated with atypical chronic myeloid leukemia.
Siena S, Sammarelli G, Grimoldi MG, Schiavo R, Nozza A, Roncalli M, Mecucci C, Santoro A, Carlo-Stella C
Haematologica. 1999 ; 84 (4) : 369-372.
PMID 10190953


This paper should be referenced as such :
Mecucci, C
Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):55-55.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(5;10)(q33;q21) CCDC6/PDGFB

External links

Mitelman databaset(5;10)(q33;q21)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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