t(12;22)(q14;q13) HMGA2/EFCAB6

2018-01-01   Philippe Dessen , Jean-Loup Huret 

Clinics and Pathology

Disease

Chronic myeloproliferative disorder, NOS

Genes Involved and Proteins

Gene name
Location
12q14.3
Gene name
Location
22q13.2

Highly cited references

Pubmed IDYearTitleCitations
227490352012Identification of a HMGA2-EFCAB6 gene rearrangement following next-generation sequencing in a patient with a t(12;22)(q14.3;q13.2) and JAK2V617F-positive myeloproliferative neoplasm.4

Bibliography

Pubmed IDLast YearTitleAuthors
227490352012Identification of a HMGA2-EFCAB6 gene rearrangement following next-generation sequencing in a patient with a t(12;22)(q14.3;q13.2) and JAK2V617F-positive myeloproliferative neoplasm.Martin SE et al

Summary

Fusion gene

HMGA2/EFCAB6 HMGA2 (12q14.3) EFCAB6 (22q13.2)

Note

Non-annotated chromosomal abnormality. Preliminary data :
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Citation

Philippe Dessen ; Jean-Loup Huret

t(12;22)(q14;q13) HMGA2/EFCAB6

Atlas Genet Cytogenet Oncol Haematol. 2018-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1670/t(12;22)(q14;q13)-hmga2-efcab6