t(4;12)(q21;p13)

2018-09-01 Tatiana Gindina Affiliation

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

Abstract

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

Clinics and Pathology

Disease

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).

Epidemiology

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).

Pts	Disease	Gender/Age	Karyotype
1	NHL	F/?	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
2	ATL	M/?	48,XY,+del(l)(p32),+3,t(4;12)(q21;p13)
3	PMBL	F/?	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
4	B-ALL	F/?	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]
5	B-ALL Remission duration 30+	F/6	47,XX,t(1;12)(p22;p13),t(4;12)(q21;p13),+10, del(11)(q23)/45,X,-X,t(4;12)
6	B-ALL	M/3	47,XY,del(1q),del(2q),der(3q), t(4;12)(q13;p12), del(6)(q21q25), + mar
7	B-ALL	M/5	46, XY, der(1)t(1;?)(p36;?), t(4;12)(q13;p12)
8	B-ALL	F/3	48,XX,t(4;12)(q21;p13),+10,+21
9	AML-M7	M/59	46,XY,t(4;12)(q21;p13)

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.

Note

Genes implicated in this translocation remain unknown.

Result of the Chromosomal Anomaly

Oncogenesis

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

Bibliography

Pubmed ID	Last Year	Title	Authors
8639906	1996	Rearrangement of the MLL gene confers a poor prognosis in childhood acute lymphoblastic leukemia, regardless of presenting age.	Behm FG et al
8418369	1993	Collaborative study of karyotypes in childhood acute lymphoblastic leukemias. Groupe Français de Cytogénétique Hématologique.
11241791	2001	Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis.	Elghezal H et al
6704943	1984	Nonrandom cytogenetic changes in human acute leukemia and their clinical implications.	Ohyashiki K et al
11793437	2002	Similar patterns of genomic alterations characterize primary mediastinal large-B-cell lymphoma and diffuse large-B-cell lymphoma.	Palanisamy N et al
1659101	1991	Relationship between chromosomal breakpoint and molecular rearrangement of T-cell antigen receptors in adult T-cell leukaemia.	Sadamori N et al
2357689	1990	Abnormalities involving chromosome 6 in newly diagnosed patients with non-Hodgkin's lymphoma. Nebraska Lymphoma Study Group.	Schouten HC et al

Summary

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

Citation

Tatiana Gindina

t(4;12)(q21;p13)

Atlas Genet Cytogenet Oncol Haematol. 2018-09-01

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