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

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/gene-explorer/