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ins(12;8)(p13;q11q21) ETV6/LYN

Written2015-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1535

Clinics and Pathology

Disease Myeloproliferative disease (primary myelofibrosis).
Epidemiology Only one case to date, a 21-year old male patient (Tanaka et al., 2010).
Prognosis The patient died 11 months after diagnosis.

Genes involved and Proteins

Gene NameLYN (LYN proto-oncogene, Src family tyrosine kinase)
Location 8q12.1
Protein 512 amino acids. LYN contains from N-term to C-Term an SH3 domain (aa 63-123), a SH2 domain (aa 129-226) and a tyrisine kinase domain (aa 247-501). Non-receptor tyrosine kinase. LYN is mainly expressed in hematopoietic cells and is an important regulator of immune homeostasis.
Gene NameETV6 (ets variant 6)
Location 12p13.2
Protein 452 amino acids. The ETV6 protein contains from N-term to C-Term a HLH (helix-loop-helix, aa 40-124) domain (also referred to as the pointed or sterile alpha motif domain), responsible for hetero- and homodimerization, an internal domain, involved in the recruitment of a repression complex including NCOR1 (17p12), NCOR2 (12q24.31), SIN3A (15q24.2), and SIN3B (19p13.11), and an ETS domain (aa 339-420), responsible for sequence specific DNA-binding and protein-protein interaction (De Braekeleer et al., 2014).

Result of the chromosomal anomaly

Fusion Protein
Description 535 amino acids. The fusion protein is composed of the HLH domain and internal domain of ETV6 (336 N-term amino acids), fused to the tyrosine kinase domain of LYN (199 C-term amino acids).
Oncogenesis ETV6-LYN is constitutively active: the PNT domain of ETV6 serves as an oligomerization domain and induces the constitutive activation of the tyrosine kinase domain from LYN through autophosphorylation; it directly activates STAT5A (17q21.2) and STAT5B (17q21.2) by phosphorylation, promotes the formation of proliferative colonies, and induces myeloproliferative neoplasms with myelofibrosis (Takeda et al., 2011).

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.


ETV6 (ets variant 6).
De Braekeleer E, Douet-Guilbert N, De Braekeleer M.
Atlas Genet Cytogenet Oncol Haematol. 2014; 18(12):886-899.
Direct activation of STAT5 by ETV6-LYN fusion protein promotes induction of myeloproliferative neoplasm with myelofibrosis.
Takeda Y, Nakaseko C, Tanaka H, Takeuchi M, Yui M, Saraya A, Miyagi S, Wang C, Tanaka S, Ohwada C, Sakaida E, Yamaguchi N, Yokote K, Hennighausen L, Iwama A.
Br J Haematol. 2011 Jun;153(5):589-98. doi: 10.1111/j.1365-2141.2011.08663.x. Epub 2011 Apr 15.
PMID 21492125
Identification of a novel TEL-Lyn fusion gene in primary myelofibrosis.
Tanaka H, Takeuchi M, Takeda Y, Sakai S, Abe D, Ohwada C, Sakaida E, Shimizu N, Saito Y, Miyagi S, Iwama A, Nakaseko C.
Leukemia. 2010 Jan;24(1):197-200. doi: 10.1038/leu.2009.167. Epub 2009 Aug 27. No abstract available.
PMID 19710703


This paper should be referenced as such :
Jean-Loup Huret
ins(12;8)(p13;q11q21) ETV6/LYN
Atlas Genet Cytogenet Oncol Haematol. 2016;20(2):92-93.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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

Genes ETV6

Translocations implicated (Data extracted from papers in the Atlas)

 ins(12;8)(p13;q11q21) ETV6/LYN

External links

ETV6 (12p13.2) LYN (8q12.1)

Mitelman databaseins(12;8)(p13;q11q21)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
TICdbETV6/LYN  ETV6 (12p13.2) LYN (8q12.1)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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