12p rearrangements (ETV6) in ALL
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA
(Note : for Links provided by Atlas : click)
Written | 2000-02 | Nyla A. Heerema |
The Ohio State University, Division of Clinical Pathology, Department of Pathology, 167 Hamilton Hall, 1645 Neil Ave, Columbus, OH 43210, USA |
(Note : for Links provided by Atlas : click)
1. Identity
ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
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 | |
2. 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. |
3. Cytogenetics
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 |
4. Genes involved and Proteins
Note | approximately half of patients with an abnormal 12p have a rearranged TEL gene |
Gene Name | ETV6 (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 |
5. Bibliography
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 |
6. Citation
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 ] |
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/12pALLID1074.html |
7. External links
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Nov 28 16:16:30 CET 2018 |
For comments and suggestions or contributions, please contact us atlasgeneticsoncology@usal.es.