t(3;14)(q27;q32)

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t(3;14)(q27;q32)

t(2;3)(p12;q27)

t(3;22)(q27;q11)

Identity

Note	the three translocations are variant of each other, share identical features, and represent translocations of the same proto-oncogene into various immunoglobulin loci.


	t(2;3)(p12;q27) G- banding (above) - Courtesy Jean-Luc Lai and Alain Vanderhaegen; t(3;14)(q27;q32) G-banding (middle) and t(3;22)(q27;q11) G-banding (below) - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services

Clinics and Pathology

Disease	NHL; mainly diffuse large cell lymphoma (DLCL); high grade lymphoma; rare cases with low grade/follicular lymphoma; in those cases, 3q rearrangements can be isolated or associated with a t(14;18) translocation
Phenotype / cell stem origin	B-cell
Epidemiology	3q27 rearrangements present in 25 to 30 % of DLCL; about 10 % of follicular lymphoma
Clinics	mainly adult aggressive lymphoma
Treatment	intensive chemotherapy
Prognosis	controversial

Cytogenetics

Cytogenetics Morphological	t(2;3) and t(3;22) are easily identified; t(3 ;14) is telomeric and difficult to see, especially when using G banding
Cytogenetics Molecular	some cosmid and YAC probes have been developed
Additional anomalies	very frequent, as usual in NHL, involving chromosome 1, del(6q), 10q, 11q, 12q, 13q, 17p arms
Variants	large number of recurring defects involving the 3q27 region: t(3;4)(q27;p13), t(3;6)(q27;p22), t(3;7)(q27;p13), t(3;8)(q27;q24), t(3;11)(q27;q23), t(3;13)(q27;q14), t(3;15)(q27;q22), t(3;17)(q27;q11).

Genes involved and Proteins

Note

BCL 6 (see below) with various partners: immunoglobulin genes IgH (mainly Sµ region) in 14q32, IgK in 2p12, and IgL in 22q11; (for variant translocations, partners are: RHOH in the t(3;4), histone H1F1 in the t(3;6), OBF1 in the t(3;11), LCP1 in the t(3;13); in these cases, the first non-coding exon of the partner gene fuses with the second exon of BCL6, resulting in the deregulated expression of a chimerical transcript and the production of a normal BCL6 protein)

Gene Name	BCL6
Location	3q27
Dna / Rna	10 exons; alternative splicing of exons 1 (1a and 1b), without modification of the open reading frame
Protein	transcription factor; belongs to the Krüppel family, with a N-term BTB/POZ domain and 6 zinc fingers; transcription repressor.

Result of the chromosomal anomaly

Fusion Protein

Description	no fusion protein, but promoter exchange; the immunoglobulin gene promoter controls the expression of the BCL6 gene.
Oncogenesis	deregulated protein expression; alternative deregulation mechanisms: deletion of regulating sequences, mutations.

External links

Other database	t(3;14)(q27;q32)	Mitelman database (CGAP - NCBI)
Other database	t(2;3)(p12;q27)	Mitelman database (CGAP - NCBI)
Other database	t(3;22)(q27;q11)	Mitelman database (CGAP - NCBI)