t(4;12)(q21;p13)
2018-09-01 Tatiana Gindina Affiliation1.R.M.Gorbacheva Memorial Institute of Children Oncology, Hematology and Transplantation at FirstSaint-Petersburg State Medical University named I.P.Pavlov, Saint-Petersburg, Russia / [email protected]
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).
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).
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.
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 | 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.
Genes Involved and Proteins
Result of the Chromosomal Anomaly
Oncogenesis
Most likely, the translocation t(4;12)(q21;p13) is a secondary genetic event in oncogenesis.
Article 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
