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(Paper co-edited with the European LeukemiaNet)
Translocation t(8;12)(q13;p13) in a case with acute leukemia of ambiguous lineage
Written2007-08Marta 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
Age and sex : 2 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : hepatomegaly (3cm from CRB); splenomegaly (3cm from CRB); enlarged lymph nodes (Mediastinal lymph nodes); no central nervous system involvement
WBC : 254 x 109/L (4); Hb : 6 g/dL (8); platelets : 86 x 109/L; blasts : L2 % (morphology).
Bone marrow : 89% of infiltration by L2 lymphoblasts
Cyto pathology classification
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
Date of diagnosis: 04-2006
Complete remission was obtained
Treatment related death : -
Relapse : -
Status : Alive 07-2007
Survival : 14 month(s)
Sample : Bone marrow ; culture time : 24 h ; banding : G banding
Results : 46,XX,t(8;12)(q13;p13)[16]/46,XX[4].
Karyotype at relapse : -
Other molecular cytogenetics 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.)
Other molecular cytogenetics 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 molecular studies
technics : RT-PCR
results : BCR-ABLp210, BCR-ABLp190, MLL-AF4, MLL-AF9, MLL-ENL, E2A-PBX1 and ETV6-RUNX1 were negative.
Partial GTG banded karyotype showing t(8;12)(q13;p13).
FISH with painting probes for chromosomes 8 (green) y 12 (red).
FISH with TEL/AML1 and AML1/ETO probes.
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.
Internal links
Atlas Cardt(8;12)(q13;p13)
Hypodiploidy is associated with a poor prognosis in childhood acute lymphoblastic leukemia.
Pui CH, Williams DL, Raimondi SC, Rivera GK, Look AT, Dodge RK, George SL, Behm FG, Crist WM, Murphy SB
Blood. 1987 ; 70 (1) : 247-253.
PMID 3474042
New 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, Carroll AJ, Shuster JJ, Pullen DJ, Link MP, Borowitz MJ, Camitta BM, Katz JA, Amylon MD
Blood. 2000 ; 96 (7) : 2543-2549.
PMID 11001909
Translocation (8;12)(q13;p13) during disease progression in acute myelomonocytic leukemia with t(11;19)(q23;p13.1).
Yamamoto K, Nagata K, Tsurukubo Y, Inagaki K, Ono R, Taki T, Hayashi Y, Hamaguchi H
Cancer genetics and cytogenetics. 2002 ; 137 (1) : 64-67.
PMID 12377416


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