t(4;12)(q21;p13)

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

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).
PtsDiseaseGender/AgeKaryotype
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
2ATLM/?48,XY,+del(l)(p32),+3,t(4;12)(q21;p13)
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]
5

B-ALL
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)
8B-ALLF/348,XX,t(4;12)(q21;p13),+10,+21
9AML-M7M/5946,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 IDLast YearTitleAuthors

Summary

Atlas Image
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/cancer-prone-explorer/