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t(8;12)(q24;q22) BTG1::MYC

Written2007-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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Atlas_Id 2057

Clinics and Pathology

Disease Chronic lymphocytic leukemia (CLL) in blastic transformation
Note CLL was diagnosed after bone marrow recovery following intensive chemotherapy for acute lymphoblastic leukemia
Epidemiology Only one case to date, 69-year-old female patient
Cytogenetics The patient had a primary t(11;14)(q13;q32) in all lymphocytic/lymphoblastic cells. A subpopulation of cells carried in addition a t(8;12) (q24;q22) together with the loss of the normal chromosome 8 and homozygosity for the abnormal der(8). It is likely that the t(11;14) corresponded to the CLL, and the subclone with t(8;12) to the blast population
Genes MYC was strongly expressed. The breakpoint on chromosome 8 mapped to the 3' end of the MYC locus
Prognosis The patient died 5 months after initial blastic phase

Genes involved and Proteins

Gene NameMYC v-myc myelocytomatosis viral oncogene homolog (avian)
Location 8q24.21
Protein Transcription factor binding to specific DNA sequences, upon dimerization to Max (Max can also form heterodimers with Mad as well as homodimers with itself). Myc/Max complexes activate transcription and promote cell proliferation and transformation. Mad/Max complexes, repress transcription.
Gene NameBTG1 (BTG anti-proliferation factor 1)
Location 12q21.33
Protein B-cell translocation gene 1 (BTG1) is an anti-proliferative gene; it regulates cell growth and differentiation. BTG1 is strongly expressed in the G0/G1 phases of the cell cycle, and then down-regulated during the G1 phase. Overexpression of BTG1 results in a retardation of cell proliferation. Potentially high-affinity self-reactive B cells are eliminated through the interaction of membrane Ig (mIg) with self-antigens. Anti-IgM upregulates BTG1 and BTG2, resulting in growth inhibition. Engagement of mIg on the cells results in G1 arrest and eventual apoptosis.

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.


Initial clonal acute lymphoblastic transformation of chronic lymphocytic leukemia with (11;14) and (8;12) chromosome translocations and acquired homozygosity.
Archimbaud E, Charrin C, Gentilhomme O, Rimokh R, Guyotat D, Fiere D, Germain D
Acta haematologica. 1988 ; 79 (3) : 168-173.
PMID 3128040
Role for Btg1 and Btg2 in growth arrest of WEHI-231 cells through arginine methylation following membrane immunoglobulin engagement.
Hata K, Nishijima K, Mizuguchi J
Experimental cell research. 2007 ; 313 (11) : 2356-2366.
PMID 17466295
An anti-proliferative gene BTG1 regulates angiogenesis in vitro.
Iwai K, Hirata K, Ishida T, Takeuchi S, Hirase T, Rikitake Y, Kojima Y, Inoue N, Kawashima S, Yokoyama M
Biochemical and biophysical research communications. 2004 ; 316 (3) : 628-635.
PMID 15033446
A chromosome 12 coding region is juxtaposed to the MYC protooncogene locus in a t(8;12)(q24;q22) translocation in a case of B-cell chronic lymphocytic leukemia.
Rimokh R, Rouault JP, Wahbi K, Gadoux M, Lafage M, Archimbaud E, Charrin C, Gentilhomme O, Germain D, Samarut J
Genes, chromosomes & cancer. 1991 ; 3 (1) : 24-36.
PMID 2069907


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):455-455.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;12)(q24;q22) BTG1/MYC

External links

BTG1 (12q21.33) MYC (8q24.21)

BTG1 (12q21.33) MYC (8q24.21)

Mitelman databaset(8;12)(q24;q22)
arrayMap (UZH-SIB Zurich)[select an item]
Mitelman databaseBTG1::MYC [MCList]  BTG1 (12q21.33) MYC (8q24.21)
Mitelman databaseBTG1::MYC [MCList]  BTG1 (12q21.33) MYC (8q24.21)
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