Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Written2009-09Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1548

Clinics and Pathology

Disease Non Hodgkin lymphoma and acute lymphoblastic lymphoma.
Phenotype / cell stem 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 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 "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

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

To be noted

Additional cases with identification of the gene involved on chromosome 1 are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Follicular 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, van Imhoff GW, Boonstra R, van der Veen A, Haralambieva E, van den Berg A, de Jong B, Krause V, Palmer MC, Coupland R, Kluin PM, van den Berg E, Poppema S.
Blood. 2003 Feb 1;101(3):1149-54.
PMID 12529293
Callanan M, Leroux D.
Atlas Genet Cytogenet Oncol Haematol. February 2002. URL:
The IgG Fc receptor, FcgammaRIIB, is a target for deregulation by chromosomal translocation in malignant lymphoma.
Callanan MB, Le Baccon P, Mossuz P, Duley S, Bastard C, Hamoudi R, Dyer MJ, Klobeck G, Rimokh R, Sotto JJ, Leroux D.
Proc Natl Acad Sci U S A. 2000 Jan 4;97(1):309-14.
PMID 10618414
The cytoplasmic tail of MUC1: a very busy place.
Carson DD.
Sci Signal. 2008 Jul 8;1(27):pe35. (REVIEW)
PMID 18612140
Deregulation of FCGR2B expression by 1q21 rearrangements in follicular lymphomas.
Chen W, Palanisamy N, Schmidt H, Teruya-Feldstein J, Jhanwar SC, Zelenetz AD, Houldsworth J, Chaganti RS.
Oncogene. 2001 Nov 15;20(52):7686-93.
PMID 11753646
MUC1 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, Palanisamy N, Lloyd KO, Dyomina K, Jhanwar SC, Houldsworth J, Chaganti RS.
Blood. 2000 Apr 15;95(8):2666-71.
PMID 10753849
Expression of the IRTA1 receptor identifies intraepithelial and subepithelial marginal zone B cells of the mucosa-associated lymphoid tissue (MALT).
Falini B, Tiacci E, Pucciarini A, Bigerna B, Kurth J, Hatzivassiliou G, Droetto S, Galletti BV, Gambacorta M, Orazi A, Pasqualucci L, Miller I, Kuppers R, Dalla-Favera R, Cattoretti G.
Blood. 2003 Nov 15;102(10):3684-92. Epub 2003 Jul 24.
PMID 12881317
MUC1 dysregulation as the consequence of a t(1;14)(q21;q32) translocation in an extranodal lymphoma.
Gilles F, Goy A, Remache Y, Shue P, Zelenetz AD.
Blood. 2000 May 1;95(9):2930-6.
PMID 10779441
IRTA1 and IRTA2, novel immunoglobulin superfamily receptors expressed in B cells and involved in chromosome 1q21 abnormalities in B cell malignancy.
Hatzivassiliou G, Miller I, Takizawa J, Palanisamy N, Rao PH, Iida S, Tagawa S, Taniwaki M, Russo J, Neri A, Cattoretti G, Clynes R, Mendelsohn C, Chaganti RS, Dalla-Favera R.
Immunity. 2001 Mar;14(3):277-89.
PMID 11290337
Lymphomas with concurrent BCL2 and MYC translocations: the critical factors associated with survival.
Johnson NA, Savage KJ, Ludkovski O, Ben-Neriah S, Woods R, Steidl C, Dyer MJ, Siebert R, Kuruvilla J, Klasa R, Connors JM, Gascoyne RD, Horsman DE.
Blood. 2009 Sep 10;114(11):2273-9. Epub 2009 Jul 13.
PMID 19597184
Molecular-cytogenetic characterization of non-Hodgkin's lymphoma with double and cryptic translocations of the immunoglobulin heavy chain gene.
Kanda-Akano Y, Nomura K, Fujita Y, Horiike S, Nishida K, Nagai M, Miura I, Nakamura S, Seto M, Iida S, Ueda R, Taniwaki M.
Leuk Lymphoma. 2004 Aug;45(8):1559-67.
PMID 15370207
Intrachromosomal rearrangement of chromosome 3q27: an under recognized mechanism of BCL6 translocation in B-cell non-Hodgkin lymphoma.
Keller CE, Nandula S, Vakiani E, Alobeid B, Murty VV, Bhagat G.
Hum Pathol. 2006 Aug;37(8):1093-9. Epub 2006 Jun 21.
PMID 16867873
Cytogenetic and histologic correlations in malignant lymphoma.
Koduru PR, Filippa DA, Richardson ME, Jhanwar SC, Chaganti SR, Koziner B, Clarkson BD, Lieberman PH, Chaganti RS.
Blood. 1987 Jan;69(1):97-102.
PMID 3790730
Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex.
Kramps T, Peter O, Brunner E, Nellen D, Froesch B, Chatterjee S, Murone M, Zullig S, Basler K.
Cell. 2002 Apr 5;109(1):47-60.
PMID 11955446
Novel evidence of a role for chromosome 1 pericentric heterochromatin in the pathogenesis of B-cell lymphoma and multiple myeloma.
Le Baccon P, Leroux D, Dascalescu C, Duley S, Marais D, Esmenjaud E, Sotto JJ, Callanan M.
Genes Chromosomes Cancer. 2001 Nov;32(3):250-64.
PMID 11579465
Chromosomal analyses of 52 cases of follicular lymphoma with t(14;18), including blastic/blastoid variant.
Mohamed AN, Palutke M, Eisenberg L, Al-Katib A.
Cancer Genet Cytogenet. 2001 Apr 1;126(1):45-51. (REVIEW)
PMID 11343778
Structural abnormalities of chromosome 7q in chronic lymphoproliferative disorders.
Oscier DG, Gardiner A, Mould S.
Cancer Genet Cytogenet. 1996 Nov;92(1):24-7.
PMID 8956866
A lineage-specific t(1;14)(q21;q32) as an early event in development of B-cell clonal expansion.
Pinkerton PH, Reis MD, DeCoteau J, Srigley JR, Dube ID, London B.
Cancer Genet Cytogenet. 1992 Dec;64(2):166-9.
PMID 1486567
Chromosomal instability in chromosome band 12p13: multiple breaks leading to complex rearrangements including cytogenetically undetectable sub-clones.
Sato Y, Kobayashi H, Suto Y, Olney HJ, Davis EM, Super HG, Espinosa R 3rd, Le Beau MM, Rowley JD.
Leukemia. 2001 Aug;15(8):1193-202.
PMID 11480561
Rapid amplification of immunoglobulin heavy chain switch (IGHS) translocation breakpoints using long-distance inverse PCR.
Sonoki T, Willis TG, Oscier DG, Karran EL, Siebert R, Dyer MJ.
Leukemia. 2004 Dec;18(12):2026-31.
PMID 15496980
Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21.
Willis TG, Zalcberg IR, Coignet LJ, Wlodarska I, Stul M, Jadayel DM, Bastard C, Treleaven JG, Catovsky D, Silva ML, Dyer MJ.
Blood. 1998 Mar 15;91(6):1873-81.
PMID 9490669


This paper should be referenced as such :
Huret, JL
t(1;14)(q21;q32) - t(1;22)(q21;q11)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(8):797-799.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(1;14)(q21;q32)
Mitelman databaset(1;22)(q21;q11)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Fri Oct 8 16:36:07 CEST 2021

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