12p rearrangements (ETV6) in ALL

2000-02-01   Nyla A. Heerema 

1.The Ohio State University, Division of Clinical Pathology, Department of Pathology, 167 Hamilton Hall, 1645 Neil Ave, Columbus, OH 43210, USA

Clinics and Pathology


acute lyphocytic leukemia (ALL)

Phenotype stem cell origin

lack of specificity for particular immunophenotype, although more stem origin frequent in B-lineage cases


approximately 10-15% of pediatric ALL cases, and 5% of adult ALL


recent data indicate no difference in overall outcome between childhood ALL cases with versus without 12p abnormalities, although there was an improved outcome for pseudodiploid patients with versus without a cytogenetic 12p abnormality; although a dic(9;12) has been reported to be associated with an excellent outcome, in a recent study, there was no difference in outcome between those patients with a dic(9;12) versus patients lacking an abnormal 12p.


Cytogenetics morphological

various aberrations result in an abnormal 12p; these include morphological balanced translocations with 12p breakpoints, del(12p), add(12p), monosomy 12, der(12)t(V;12)(V;p), and dic(V;12)(V;p); an abnormal 12p usually occurs as part of a more complex karyotype, and occurs as the sole aberration in less than 20% of cases with an abnormal 12p; in greater than 10% of cases both 12p homologues are abnormal; few cases with an abnormal 12p have more than 50 chromosomes

Additional anomalies

del(6q), del(13q) or monosomy 13, acquired +21; few recurring anomalies

Genes Involved and Proteins

approximately half of patients with an abnormal 12p have a rearranged TEL gene
Gene name
ETV6 (ets variant 6)
Protein description
TEL proteins belong to the ETS family transcription factors; important in the vitelline angiogenesis and in the bone marrow hematopoiesis


Pubmed IDLast YearTitleAuthors
86053271996Cytogenetic abnormalities in adult acute lymphoblastic leukemia: correlations with hematologic findings outcome. A Collaborative Study of the Group Français de Cytogénétique Hématologique.
78450021995Dicentric (9;12) in acute lymphocytic leukemia and other hematological malignancies: report from a dic(9;12) study group.Behrendt H et al
93595081997Cytogenetics and prognosis in childhood lymphoblastic leukaemia: results of MRC UKALL X. Medical Research Council Working Party in Childhood Leukaemia.Chessels JM et al
9373267199712p abnormalities and the TEL gene (ETV6) in childhood acute lymphoblastic leukemia.Raimondi SC et al


Atlas Image
del(12)(p12) G-banding - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services


Nyla A. Heerema

12p rearrangements (ETV6) in ALL

Atlas Genet Cytogenet Oncol Haematol. 2000-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1074/12p-rearrangements-(etv6)-in-all

External Links