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

2015-02-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Myeloproliferative disease (primary myelofibrosis).


Only one case to date, a 21-year old male patient (Tanaka et al., 2010).


The patient died 11 months after diagnosis.

Genes Involved and Proteins

Gene name
LYN (LYN proto-oncogene, Src family tyrosine kinase)
Protein description
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 name
ETV6 (ets variant 6)
Protein description
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

Atlas Image


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).


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).

Highly cited references

Pubmed IDYearTitleCitations
291530932017Next-generation sequencing and molecular cytogenetic characterization of ETV6-LYN fusion due to chromosomes 1, 8 and 12 rearrangement in acute myeloid leukemia.8
214921252011Direct activation of STAT5 by ETV6-LYN fusion protein promotes induction of myeloproliferative neoplasm with myelofibrosis.7
270582272016Myeloproliferative neoplasm with eosinophilia and T-lymphoblastic lymphoma with ETV6-LYN gene fusion.3


Pubmed IDLast YearTitleAuthors
214921252011Direct activation of STAT5 by ETV6-LYN fusion protein promotes induction of myeloproliferative neoplasm with myelofibrosis.Takeda Y et al
197107032010Identification of a novel TEL-Lyn fusion gene in primary myelofibrosis.Tanaka H et al


Fusion gene

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




Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version:;8)(p13;q11q21)-etv6-lyn

External Links