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t(4;12)(q21;p13)

Written2018-09Tatiana Gindina
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

Keywords Chromosome 4; Chromosome 12; Acute lymphoblastic leukemia; Primary mediastinal large B-cell lymphoma ; Adult T-cell leukemia/lymphoma; Acute megakayoblastic leukemia.

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Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9679/3 Primary mediastinal (thymic) large B-cell lymphoma
ICD-Morpho 9827/3 Adult T-cell leukaemia/lymphoma
ICD-Morpho 9910/3 Acute megakaryoblastic leukaemia
Atlas_Id 1504
 
  Figure 1. Partial karyotype with t(4;12)(q21;p13) in a female patient with B-ALL (table 1, #8).

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 / cell stem 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-Hodgkin's 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.<

Genetics

Genes implicated in this translocation remain unknown.

Cytogenetics

Additional anomalies Additional chromosome abnormalities were observed in all these patients with lymphoid malignancies. Translocation t(4;12) was associated with such anomaly as translocation t(14;18)(q32;q21) in 2 cases (Schouten et al., 1990; Palanisamy et al., 2002) and translocation t(12;21)(p13;q22) ETV6/ RUNX1 in 1 patient (Elghezal et al., 2001). Trisomies of chromosomes 3 and 21 were present in 3 patients each (Schouten et al., 1990, Sadamori et al., 1991; Palanisamy et al., 2002; and Palanisamy et al., 2002; Elghezal et al., 2001; Gindina T. own case #8, respectively), trisomies of chromosomes 10 and 18 were in 2 cases each (Behm et al., 1996; Gindina T. own case #8, respectively and Schouten et al., 1990; Palanisamy et al., 2002, respectively). Deletion of 6q was demonstrated in 3 patients (Schouten et al., 1990; Palanisamy et al., 2002; Groupe Franais de Cytogntique Hmatologique, 1993). In most cases, t(4;12)(q21;p13) was as a part of a complex karyotype. As a single anomaly, t(4;12)(q21;p13) was described only in one case of AML (Ohyashiki et al., 1984).

Result of the chromosomal anomaly

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

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Rearrangement of the MLL gene confers a poor prognosis in childhood acute lymphoblastic leukemia, regardless of presenting age
Behm FG, Raimondi SC, Frestedt JL, Liu Q, Crist WM, Downing JR, Rivera GK, Kersey JH, Pui CH
Blood 1996 Apr 1;87(7):2870-7
PMID 8639906
 
Groupe Franais de Cytogntique Hmatologique
Collaborative study of karyotypes in childhood acute lymphoblastic leukemias
Leukemia 1993 Jan;7(1):10-9
PMID 8418369
 
Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis
Elghezal H, Le Guyader G, Radford-Weiss I, Perot C, Van Den Akker J, Eydoux P, Vekemans M, Romana SP
Genes Chromosomes Cancer 2001 Apr;30(4):383-92
PMID 11241791
 
Nonrandom cytogenetic changes in human acute leukemia and their clinical implications
Ohyashiki K
Cancer Genet Cytogenet 1984 Apr;11(4):453-71
PMID 6704943
 
Similar patterns of genomic alterations characterize primary mediastinal large-B-cell lymphoma and diffuse large-B-cell lymphoma
Palanisamy N, Abou-Elella AA, Chaganti SR, Houldsworth J, Offit K, Louie DC, Terayu-Feldstein J, Cigudosa JC, Rao PH, Sanger WG, Weisenburger DD, Chaganti RS
Genes Chromosomes Cancer 2002 Feb;33(2):114-22
PMID 11793437
 
Relationship between chromosomal breakpoint and molecular rearrangement of T-cell antigen receptors in adult T-cell leukaemia
Sadamori N, Isobe M, Shimizu S, Yamamori T, Itoyama T, Ikeda S, Yamada Y, Ichimaru M
Acta Haematol 1991;86(1):14-9
PMID 1659101
 
Abnormalities involving chromosome 6 in newly diagnosed patients with non-Hodgkin's lymphoma
Schouten HC, Sanger WG, Weisenburger DD, Armitage JO
Nebraska Lymphoma Study Group Cancer Genet Cytogenet
PMID 2357689
 

Citation

This paper should be referenced as such :
Gindina T
t(4;12)(q21;p13);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0412q21p13ID1504.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(4;12)(q21;p13)

External links

Mitelman databaset(4;12)(q21;p13) [Case List]    t(4;12)(q21;p13) [Transloc-MCList]
arrayMap (UZH-SIB Zurich)Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9679/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9827/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9910/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
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