t(1;14)(q21;q32)t(1;22)(q21;q11)

2009-09-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

Non Hodgkin lymphoma and acute lymphoblastic lymphoma.

Phenotype stem cell origin

23 cases to date: follicular lymphomas (FL, n=9), diffuse large B-cell lymphomas (DLBCL, n=5), marginal zone lymphoma (n=1), other B-cell non Hodgkin lymphomas, not otherwise specified (NHL NOS, n=4), pre-B acute lymphoblastic leukaemia (B-ALL, n=1), B-cell clonal hyperplasia without any sign of malignant transformation (n=1), and a myeloma cell line (Koduru et al., 1987; Oscier et al., 1996; Pinkerton et al., 1992; Willis et al., 1998; Callanan et al., 2000; Dyomin et al., 2000; Gilles et al., 2000; Chen et al., 2001; Hatzivassiliou et al., 2001; Le Baccon et al., 2001; Mohamed et al., 2001; Sato et al., 2001; Bosga-Bouwer et al., 2003; Sonoki et al., 2004; Keller et al., 2006; Johnson et al., 2009). Also a case of T-cell angioimmunoblastic lymphoma was described with this translocation, but it is likely that IgH was not involved in the cancer process in the latter case (Kanda-Akano et al., 2004).

Epidemiology

There were 9 male and 5 female patients. Median age was 56-57 years (range 30-81 years, data from 14 patients).

Prognosis

Insufficient data.

Cytogenetics

Cytogenetics morphological

The t(1;14)(q21;q32) was found in 12 of 23 cases, and the t(1;22)(q21;q11) was found in 11 of 23 cases, a much higher percentage than for the variant translocations of the t(8;14)(q24;q32), or those of the t(14;18)(q32;q21). No case with t(1;2)(q21;p11) has so far been described.
Surprisingly also was that out of 11 well documented cases of t(1;14), there was no one case with a t(14;18), whereas out 8 well documented cases of t(1;22), 100% of the cases also had a t(14;18).

Additional anomalies

Out of 16 cases with complete data on the karyotype, the translocation was found as the sole anomaly in 2 cases, and complex karyotypes were found in 13 cases.
Accompanying anomalies were the following there was a t(14;18)(q32;q21) in 8 cases, only found in FL or in "NHL-NOS" cases, +7 in 5 cases, the rare t(8;9)(q24;p13) was found in 3 instances, +18 in 3 cases, +X, +12, +18, a 3q27 rearrangement, a del(6q), a del(7q), and/or a del(13q) in 2 cases each, +3, +8, +9, +17, a t(2;12)(p11;p13), a t(8;14)(q24;q32), a t(18;22)(q21;q11), and/or an i(6p) in one case each.

Genes Involved and Proteins

Note
In 14q32 sits IgH, and IgL in 22q11. The translocation t(1;14 or 22)(q21;q32 or q11) is heterogeneous, since different cases have shown different genes in 1q21 deregulated by the translocation:
- BCL9 (Willis et al., 1998). BCL9 binds to CTNNB1 (beta-catenin) and is required for Wnt signal transduction (Kramps et al., 2002). BCL9 starts at 145479806 and ends at 145564639 bp from pter.
- MUC1 (Dyomin et al., 2000; the same case was independantly reported in Gilles et al., 2000). MUC1 is a membrane bound mucin expressed on the surface of epithelial cells to in protect epithelia (Carson, 2008). MUC1 starts at 153424924 and ends at 153429324 bp from pter.
- FCRL4 and/or FCRL5 (Hatzivassiliou et al., 2001; Sonoki et al., 2004). FCRL4 is a cell surface receptor related to the Fc receptor, inhibitory receptor superfamily, and cell adhesion molecule (CAM) families (Falini et al., 2003). FCRL4 starts at 155810163 and ends at 155834494 bp from pter.
- FCGR2B (Callanan et al., 2000; Chen et al., 2001). FCGR2B is a Low affinity IgG Fc receptor (Callanan and Leroux, 2002). FCGR2B starts at 159899564 and ends at 159914575 bp from pter.

As a matter of fact, these translocations span 1q21 to 1q23. Also, many other genes of interest are in the area delimited by BCL9 and FCGR2B (see http://atlasgeneticsoncology.org/Indexbychrom/idxa_1.html "Ordered by Location").
From the very short sample of cases for each partner gene, it is impossible to delineate different entities with different epidemiologies and prognoses. They are therefore needed, for clinical goals.

Result of the Chromosomal Anomaly

Oncogenesis

No fusion protein, but promoter exchange; the immunoglobulin gene enhancer stimulates the expression of the partner gene.

Bibliography

Pubmed IDLast YearTitleAuthors
125292932003Follicular lymphoma grade 3B includes 3 cytogenetically defined subgroups with primary t(14;18), 3q27, or other translocations: t(14;18) and 3q27 are mutually exclusive.Bosga-Bouwer AG et al
106184142000The IgG Fc receptor, FcgammaRIIB, is a target for deregulation by chromosomal translocation in malignant lymphoma.Callanan MB et al
186121402008The cytoplasmic tail of MUC1: a very busy place.Carson DD et al
117536462001Deregulation of FCGR2B expression by 1q21 rearrangements in follicular lymphomas.Chen W et al
107538492000MUC1 is activated in a B-cell lymphoma by the t(1;14)(q21;q32) translocation and is rearranged and amplified in B-cell lymphoma subsets.Dyomin VG et al
128813172003Expression of the IRTA1 receptor identifies intraepithelial and subepithelial marginal zone B cells of the mucosa-associated lymphoid tissue (MALT).Falini B et al
107794412000MUC1 dysregulation as the consequence of a t(1;14)(q21;q32) translocation in an extranodal lymphoma.Gilles F et al
112903372001IRTA1 and IRTA2, novel immunoglobulin superfamily receptors expressed in B cells and involved in chromosome 1q21 abnormalities in B cell malignancy.Hatzivassiliou G et al
195971842009Lymphomas with concurrent BCL2 and MYC translocations: the critical factors associated with survival.Johnson NA et al
153702072004Molecular-cytogenetic characterization of non-Hodgkin's lymphoma with double and cryptic translocations of the immunoglobulin heavy chain gene.Kanda-Akano Y et al
168678732006Intrachromosomal rearrangement of chromosome 3q27: an under recognized mechanism of BCL6 translocation in B-cell non-Hodgkin lymphoma.Keller CE et al
37907301987Cytogenetic and histologic correlations in malignant lymphoma.Koduru PR et al
119554462002Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex.Kramps T et al
115794652001Novel evidence of a role for chromosome 1 pericentric heterochromatin in the pathogenesis of B-cell lymphoma and multiple myeloma.Le Baccon P et al
113437782001Chromosomal analyses of 52 cases of follicular lymphoma with t(14;18), including blastic/blastoid variant.Mohamed AN et al
89568661996Structural abnormalities of chromosome 7q in chronic lymphoproliferative disorders.Oscier DG et al
14865671992A lineage-specific t(1;14)(q21;q32) as an early event in development of B-cell clonal expansion.Pinkerton PH et al
114805612001Chromosomal instability in chromosome band 12p13: multiple breaks leading to complex rearrangements including cytogenetically undetectable sub-clones.Sato Y et al
154969802004Rapid amplification of immunoglobulin heavy chain switch (IGHS) translocation breakpoints using long-distance inverse PCR.Sonoki T et al
94906691998Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21.Willis TG et al

Citation

Jean-Loup Huret

t(1;14)(q21;q32)t(1;22)(q21;q11)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/haematological/1548/t(1;14)(q21;q32)t(1;22)(q21;q11)

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