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(Paper co-edited with the European LeukemiaNet)
Translocation t(5;6)(q33-34;q23) in an acute myelomonocytic leukemia patient
Written2014-02Adriana Zamecnikova, Soad Al Bahar, Ramesh Pandita
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait
Age and sex : 68 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 104 x 109/L ; Hb : 7.8 g/dL ; platelets : 57 x 109/L; blasts : 84 % .
Bone marrow : Hypercellular marrow with 87% blasts which were PAS diffuse granular positive and SBB (Sudan Black B) positive.
Cyto pathology classification
Cytology : Acute myelomonocytic leukemia
Immunophenotype : Positive for CD13, CD15, CD117, CD33, MPO, CD45, HLDR and dim CD34 (27%)
Precise diagnosis : Acute myelomonocytic leukemia
Date of diagnosis: 03-2013
Treatment : Chemotherapy (Daunorubicin & Cytarabine combination therapy; consolidation with high dose Ara-C)
Complete remission : None
Treatment related death : -
Relapse : +
Phenotype at relapse : Acute myelomonocytic leukemia
Status : L 11-2013
Survival : 8 month(s)
Sample : Bone marrow, blood ; culture time : 24 h ; banding : G-banding
Results : 46,XX,t(5;6)(q33-34;q23)[25]
Karyotype at relapse : 46,XX,t(5;6)(q33-34;q23)[1]/46,XX,t(5;6)(q33-34;q23),t(7;10)(p22;q23)[19]
Other molecular cytogenetics technics : Fluorescence in situ hybridization (FISH) with LSI AML1-ETO, LSI MLL, LSI CBFB/inv(16), LSI EGRI/5q31 (Abbott Molecular, Downers Grove, IL) and XL 6q21/6q23, XL PDGFR, whole chromosome 6 probe Metasystem, Germany).
Other molecular cytogenetics results : Normal signal patterns for LSI AML1-ETO, LSI MLL, LSI CBFB/inv(16), LSI EGRI/5q31, XL 6q21/6q23 and XL PDGFR probes.
Figure 1. A. Karyotype from the time of diagnosis showing the chromosomal translocation t(5;6)(q33-34;q23). B. Fluorescence in situ hybridization studies (FISH) with XL 6q21/6q23 (Metasystem, Germany) probe showing red and green signals on both, normal and der(6) chromosomes. C. Applying the XL PDGFR probe (Metasystem, Germany) showed normal signal pattern on both normal and der(5) chromosomes, indicating that PDGFR located on 5q32-33 is not involved in the translocation. D. Hybridization with whole chromosome 6 probe (Metasystem, Germany) showing translocation of chromosome 6 sequences to der(5) chromosome.
Figure 2. A. Karyotype from blood cell from the time of relapse showing the t(5;6)(q33-34;q23) and a new anomaly t(7;10)(p22;q23). B. Partial karyotypes from blood and bone marrow showing the t(5;6)(q33-34;q23).
Chromosomal translocations involving 5q33 and 6q23 have been reported in only one patient with T-ALL and an associated myeloproliferative neoplasm and C6ORF204/PDGFRB fusion (Chmielecki et al 2012). While in this case, the chromosomal translocation appeared to be morphologically identical to our t(5;6)(q33-34;q23), in our patient PDGFRB (5q32-33) is not rearranged and MYB (6q23)is not translocated to chromosome 5 as in a previously described case. Due to the availability of tyrosine kinase inhibitors for PDGFRB rearranged disorders, our findings emphasize the importance of FISH in precise characterizing of chromosome rearrangements with 5q33-34 breakpoints, especially in suboptimal preparations.
Internal links
Atlas Cardt(5;6)(q33-34;q23) CEP85L/PDGFRB
Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm.
Chmielecki J, Peifer M, Viale A, Hutchinson K, Giltnane J, Socci ND, Hollis CJ, Dean RS, Yenamandra A, Jagasia M, Kim AS, Dave UP, Thomas RK, Pao W.
Genes Chromosomes Cancer. 2012 Jan;51(1):54-65. doi: 10.1002/gcc.20930. Epub 2011 Sep 21.
PMID 21938754


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