Translocation t(8;12)(q13;p13) in a case with acute leukemia of ambiguous lineage

Marta Gallego, Mariela Coccé, Andrea Bernasconi, Maria Felice, Cristina Alonso, Myriam Guitter  

Laboratorio de Citogenetica - Servicio de Genetica-Servicio de Inmunologia - Servicio de Hemato-Oncologia. Hospital de Pediatria SAMIC "Prof. Dr. J. P. Garrahan", Buenos Aires, Argentina

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
2
Sex
F
Liver
+ 3cm from CRB
Spleen
+ 3cm from CRB
Lymph nodes
+ Mediastinal lymph nodes
Cns involv
-

Blood data

Wbc
254,4
Hb
6,8
Platelets
86
Blasts
L2 morphology
Bone marrow
89% of infiltration by L2 lymphoblasts

Cyto path

Cytology
Ambiguous lineage acute leukemia
Immunophenotype
Blast cells were positive for T linage antigens: CD2, CD7, cCD3; B linage antigens: CD19 and cCD79a and myeloid antigens: CD13 and CD33. A minor (10%) myeloid blast population was also detected among the leukemic cells expressing MPO and CD117. Other positive markers were CD45, CD34, HLA-DR whereas CD10 and TdT were negative.
Rearranged ig tcr
-
Pathology
-
Electron microscopy
-
Precise diagnosis
acute leukemia of ambiguous lineage

Survival data

Date diagnosis
04-2006
Treatment
12-ALLIC/BFM-PROTOCOL
Complete remission
+
Treatment relat death
-
Relapse
-
Status
A
Date last follow
07-2007
Survival
14

Karyotype

Sample
Bone marrow
Culture time
24
Banding
G banding
Results
46,XX,t(8;12)(q13;p13)[16]/46,XX[4].
Karyotype relapse
-
Mol cytogenet technics
Fluorescence in situ hybridization (FISH) with painting probes (WCP 8, WCP 12)and LSI ES Dual Color Translocation Probes (TEL/AML1 and AML1/ETO) (Vysis, Inc.)
Mol cytogenet results
ish t(8;12)(q13;p13)(WCP8+,WCP12+,TEL+,ETO-;WCP8+,WCP12+,ETO+,TEL-). FISH analysis with TEL/AML1 probe revealed that the gene ETV6 is in the derivate 8 and it is not involved in the translocation.

Other molec studies

Technics
RT-PCR
Results
BCR-ABLp210, BCR-ABLp190, MLL-AF4, MLL-AF9, MLL-ENL, E2A-PBX1 and ETV6-RUNX1 were negative.

Images

Atlas Image
Partial GTG banded karyotype showing t(8;12)(q13;p13).
Atlas Image
FISH with painting probes for chromosomes 8 (green) y 12 (red).
Atlas Image
FISH with TEL/AML1 and AML1/ETO probes.

Comments section

Comments
To our knowledge four cases of t(8;12)(q13;p13) have been reported in the literature. Three of them were described in childhood acute leukemia. The fourth case was described during disease progression in acute myelomonocytic leukemia with t(11;19). It was suggested that t(8;12) might play an important role in the relapse and lead to a poor prognosis. Our patient presented a bad response to prednisone and was considered of high risk group. At present she remains in complete remission.

Bibliography

Pubmed IDLast YearTitleAuthors
34740421987Hypodiploidy is associated with a poor prognosis in childhood acute lymphoblastic leukemia.Pui CH et al
110019092000New recurring cytogenetic abnormalities and association of blast cell karyotypes with prognosis in childhood T-cell acute lymphoblastic leukemia: a pediatric oncology group report of 343 cases.Schneider NR et al
123774162002Translocation (8;12)(q13;p13) during disease progression in acute myelomonocytic leukemia with t(11;19)(q23;p13.1).Yamamoto K et al

Citation

Marta Gallego, Mariela Coccé, Andrea Bernasconi, Maria Felice, Cristina Alonso, Myriam Guitter

Translocation t(8;12)(q13;p13) in a case with acute leukemia of ambiguous lineage

Atlas Genet Cytogenet Oncol Haematol. 2007-08-01

Online version: http://atlasgeneticsoncology.org/case-report/208827/translocation-t(8;12)(q13;p13)-in-a-case-with-acute-leukemia-of-ambiguous-lineage