Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| Translocation t(8;12)(q13;p13) in a case with acute leukemia of ambiguous lineage |
| Written | 2007-08 | 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 |
| Clinics |
| 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 |
| Blood |
| 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 |
| Survival |
| Date of diagnosis: 04-2006 |
| Treatment : 12-ALLIC/BFM-PROTOCOL |
| Complete remission was obtained |
| Treatment related death : - |
| Relapse : - |
| Status : Alive 07-2007 |
| Survival : 14 month(s) |
| Karyotype |
| 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. |
| 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. |
| Internal links |
| Atlas Card | t(8;12)(q13;p13) |
| Bibliography |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Reports/0812GallegoID100029.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 5 19:11:54 CET 2020 |
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