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12p rearrangements (ETV6) in ALL

Written2000-02Nyla A. Heerema
The Ohio State University, Division of Clinical Pathology, Department of Pathology, 167 Hamilton Hall, 1645 Neil Ave, Columbus, OH 43210, USA

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1074
  del(12)(p12) G-banding - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services

Clinics and Pathology

Disease acute lyphocytic leukemia (ALL)
Phenotype / cell stem origin lack of specificity for particular immunophenotype, although more stem origin frequent in B-lineage cases
Epidemiology approximately 10-15% of pediatric ALL cases, and 5% of adult ALL
Prognosis 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

Note approximately half of patients with an abnormal 12p have a rearranged TEL gene
Gene NameETV6 (ets variant 6)
Location 12p13.2
Protein TEL proteins belong to the ETS family transcription factors; important in the vitelline angiogenesis and in the bone marrow hematopoiesis


Cytogenetic abnormalities in adult acute lymphoblastic leukemia: correlations with hematologic findings outcome. A Collaborative Study of the Groupe Français de Cytogénétique Hématologique (GFCH).
Blood. 1996 ; 87 (8) : 3135-3142.
PMID 8605327
Dicentric (9;12) in acute lymphocytic leukemia and other hematological malignancies: report from a dic(9;12) study group.
Behrendt H, Charrin C, Gibbons B, Harrison CJ, Hawkins JM, Heerema NA, Horschler-Bötel B, Huret JL, Laï JL, Lampert F
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1995 ; 9 (1) : 102-106.
PMID 7845002
Cytogenetics and prognosis in childhood lymphoblastic leukaemia: results of MRC UKALL X. Medical Research Council Working Party in Childhood Leukaemia.
Chessels JM, Swansbury GJ, Reeves B, Bailey CC, Richards SM
British journal of haematology. 1997 ; 99 (1) : 93-100.
PMID 9359508
12p abnormalities and the TEL gene (ETV6) in childhood acute lymphoblastic leukemia.
Raimondi SC, Shurtleff SA, Downing JR, Rubnitz J, Mathew S, Hancock M, Pui CH, Rivera GK, Grosveld GC, Behm FG
Blood. 1997 ; 90 (11) : 4559-4566.
PMID 9373267


This paper should be referenced as such :
Heerema, NA
12p rearrangements in ALL
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):20-21.
Free journal version : [ pdf ]   [ DOI ]
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External links

arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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