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

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Written2008-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

1. Identity

ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1348

2. Clinics and Pathology

Disease Chronic myelomonocytic leukaemia (CMML) in transformation into an acute myeloid leukaemia (AML) (Penas et al., 2003)
Epidemiology Only 1 case to date, a 74-year-old male patient.
Prognosis No data.

3. Cytogenetics

Cytogenetics Morphological Cryptic translocation: the karyotype suggested a del(12p) , and FISH analyses uncovered the translocation.
Additional anomalies The translocation was the sole anomaly.

4. Genes involved and Proteins

Gene NameETV6 (ets variant 6)
Location 12p13.2
Protein 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 NamePER1 (period circadian clock 1)
Location 17p13.1
Protein PER1 contains a bHLH and PAS region involved in dimerization. Transcriptional regulator.

5. Result of the chromosomal anomaly

Hybrid gene
Description 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.

6. 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.

7. Bibliography

A 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.
Penas EM, Cools J, Algenstaedt P, Hinz K, Seeger D, Schafhausen P, Schilling G, Marynen P, Hossfeld DK, Dierlamm J.
Genes Chromosomes Cancer. 2003 May;37(1):79-83.
PMID 12661008

8. Citation

This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(11):882-882.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t1217p13p13ID1348.html

9. Translocations implicated (Data extracted from papers in the Atlas)

 t(12;17)(p13;p13) ETV6/PER1

10. External links

ETV6 (12p13.2) PER1 (17p13.1)

ETV6 (12p13.2) PER1 (17p13.1)

Mitelman databaset(12;17)(p13;p13) [Case List]    t(12;17)(p13;p13) [Transloc-MCList] ETV6/PER1 [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseETV6/PER1 [MCList]  ETV6 (12p13.2) PER1 (17p13.1)
TICdbETV6/PER1  ETV6 (12p13.2) PER1 (17p13.1)
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indexed on : Wed Nov 28 16:19:29 CET 2018

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