2018-09-01   Tatiana Gindina 

1.R.M.Gorbacheva Memorial Institute of Children Oncology, Hematology and Transplantation at FirstSaint-Petersburg State Medical University named I.P.Pavlov, Saint-Petersburg, Russia / tatgindina@gmail.com


Review on t(4;12)(q21;p13) in lymphoid malignancies

Clinics and Pathology


Translocation t(4;12)(q21;p13) occurs predominantly in B-cell lymphoid disorders, including ALL, NHL, rarely with T-ALL and AML.
Acute lymphoblastic leukemia (ALL): was diagnosed in 5 patients (Groupe Franais de Cytogntique Hmatologique, 1993; Behm et al., 1996; Elghezal et al., 2001; Gindina T., own case, table 1,#8).
Primary mediastinal large-B-cell lymphoma was found in 1 patient (Palanisamy et al, 2002)
Adult T-cell Leukemia: 1 patient (Sadamori et al., 1991).
Non-Hodgkins lymphoma: 1 patient (Schouten et al., 1990).
Acute myeloid leukemia: 1 patient with AML-M7 (Ohyashiki et al., 1984).

Phenotype stem cell origin

Two patients had B-cell Early B ALL (CD10+) and Pre-B ALL (CIg +) (Groupe Franais de Cytogntique Hmatologique, 1993).


The translocation t(4;12)(q21;p13) was found in adults and children as well as equally among male and female patients.
Table 1. Reported cases with t(4;12)(q21;p13).
1NHLF/?49,XX, +3,+18,t(3;?)(q29;?), t(4;12)(q21;p13), del(6)(q23),t(7;?)(q2l;?),t(9;?)(p23;?),t(14;18)(q32;q21),t(17;?)(p13;?),+mar
3PMBLF/?50,XX, dup(2)(q21q31),+3,t(4;12)(q21;p13), del(6)(q23),del(7)(q21),add(9)(p23),add(13)(p13),t(14;18)(q32;q21),+18, +add(20)(p13),+21
4B-ALLF/?47,XX,t(4;12)(q13;p12),del(15)(q14q25),+21,der(21) t(12;21)[3]/ 48,idem,+13[1]/49,idem,+X[1]

Remission duration 30+

F/647,XX,t(1;12)(p22;p13),t(4;12)(q21;p13),+10, del(11)(q23)/45,X,-X,t(4;12)
6B-ALLM/347,XY,del(1q),del(2q),der(3q), t(4;12)(q13;p12), del(6)(q21q25), + mar
7B-ALLM/546, XY, der(1)t(1;?)(p36;?), t(4;12)(q13;p12)

NHL: non-Hodgkins lymphoma; ATL: Adult T-cell leukemia; PMBL: Primary mediastinal large-B-cell lymphoma; B-ALL: B-Acute lymphoblastic leukemia; AML-M7: Acute megakaryoblastic leukemia
1. Schouten et al., 1990: 2. Sadamori et al., 1991; 3. Palanisamy et al., 2002; 4. Elghezal et al., 2001; 5. Behm et al., 1996; 6,7. Groupe Franais de Cytogntique Hmatologique, 1993; 8. Gindina, personal observation; 9. Ohyashiki et al., 1984.


Genes implicated in this translocation remain unknown.

Result of the Chromosomal Anomaly


Most likely, the translocation t(4;12)(q21;p13) is a secondary genetic event in oncogenesis.


Pubmed IDLast YearTitleAuthors
86399061996Rearrangement of the MLL gene confers a poor prognosis in childhood acute lymphoblastic leukemia, regardless of presenting age.Behm FG et al
84183691993Collaborative study of karyotypes in childhood acute lymphoblastic leukemias. Groupe Français de Cytogénétique Hématologique.
112417912001Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis.Elghezal H et al
67049431984Nonrandom cytogenetic changes in human acute leukemia and their clinical implications.Ohyashiki K et al
117934372002Similar patterns of genomic alterations characterize primary mediastinal large-B-cell lymphoma and diffuse large-B-cell lymphoma.Palanisamy N et al
16591011991Relationship between chromosomal breakpoint and molecular rearrangement of T-cell antigen receptors in adult T-cell leukaemia.Sadamori N et al
23576891990Abnormalities involving chromosome 6 in newly diagnosed patients with non-Hodgkin's lymphoma. Nebraska Lymphoma Study Group.Schouten HC et al


Atlas Image
Figure 1. Partial karyotype with t(4;12)(q21;p13) in a female patient with B-ALL (table 1, #8).


Tatiana Gindina


Atlas Genet Cytogenet Oncol Haematol. 2018-09-01

Online version: http://atlasgeneticsoncology.org/haematological/1504/t(4;12)(q21;p13)