t(12;17)(p13;p13) ETV6/PER1

2008-12-01   Jean-Loup Huret 

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

Clinics and Pathology


Chronic myelomonocytic leukaemia (CMML) in transformation into an acute myeloid leukaemia (AML) (Penas et al., 2003)


Only 1 case to date, a 74-year-old male patient.


No data.


Cytogenetics morphological

Cryptic translocation: the karyotype suggested a del(12p) , and FISH analyses uncovered the translocation.

Additional anomalies

The translocation was the sole anomaly.

Genes Involved and Proteins

Gene name
ETV6 (ets variant 6)
Protein description
ETV6 is composed of a HLH domain (pointed or sterile alpha motif (SAM) domain), responsible for dimerization and an ETS domain, responsible for sequence specific DNA-binding. Transcriptional regulator.
Gene name
PER1 (period circadian clock 1)
Protein description
PER1 contains a bHLH and PAS region involved in dimerization. Transcriptional regulator.

Result of the Chromosomal Anomaly


An ETV6-PER1 transcript was detected, joining exon 1 of ETV6 to Exon 22 of PER1; however, PER1 has an antisense orientation, and the sequence was ETV6 exon 1, PER1 exon 22, and part of PER1 exon 21. No reciprocal transcript.


Pubmed IDLast YearTitleAuthors
126610082003A novel cryptic translocation t(12;17)(p13;p12-p13) in a secondary acute myeloid leukemia results in a fusion of the ETV6 gene and the antisense strand of the PER1 gene.Murga Penas EM et al


Fusion gene

ETV6/PER1 ETV6 (12p13.2) PER1 (17p13.1) M t(12;17)(p13;p13)|ETV6/PER1 ETV6 (12p13.2) PER1 (17p13.1) TIC


Jean-Loup Huret

t(12;17)(p13;p13) ETV6/PER1

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1348/t(12;17)(p13;p13)-etv6-per1

External Links