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(Paper co-edited with the European LeukemiaNet)
Translocation t(5;17)(q13;q21) as the sole cytogenetic anomaly in acute myeloid leukemia after chemotherapy and allogeneic bone marrow transplantation for AML-M4: a case report
Written2008-08Elvira D Rodrigues Pereira Velloso, Cristina A Ratis, Edi Cabral, Denize Gonsalez, Nydia S Bacal, Cristóvão LP Mangueira
Clinical Laboratory, Hospital Israelita Albert Einstein, São Paulo, Brazil (EDRPV, CAR, NSB, CLPM); Hospital Santa Cruz, São Paulo, Brazil (ED, DG)
Age and sex : 40 year(s) old female patient.
Previous History : no preleukemia
AML in April, 2005, characterized as AML-M4 (FAB classification), BM cytogenetics with no clonal anomaly (46,XX[12]), immunophenotyping of blast cells showed positivity for CD34, HLA-DR,CD117, cMPO, CD33, CD13, CD4, CD15, CD64 and CD71. The patient was treated with Idarubicin for 3 days, and Ara-C for 7 days, with complete remission. Consolidation chemotherapy with HDARA-C was done. In September, 2005 a full-matched related bone marrow transplantation was performed, from her brother. Karyotypes performed in April and September, 2006 and September, 2007 showed a complete chimerism (//46,XY[20]).
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 312 x 109/L ; Hb : 8 g/dL (7); platelets : 27 x 109/L; blasts : 98 % .
Bone marrow : 90% myeloid/monocytic blast cells
Cyto pathology classification
Cytology : AML-M4
Immunophenotype : blast cells positivity for: CD34, HLA-DR,CD117, cMPO, CD33, CD13, CD4, CD15, CD64 and CD71.
Rearranged Ig Tcr : not done
Pathology : not done
Electron microscopy : not done
Precise diagnosis : AML-M4 in first relapse after allogeneic BMT.
Date of diagnosis: 01-2008
Treatment : Idarubicin + ARA-C (I3A7)
Complete remission : None
Treatment related death : +
Relapse : -
Status : Dead 02-2008
Survival : 1 month(s)
Sample : Bone Marrow ; culture time : 24 h, and 48- hours without stimulating agents ; banding : G- band
Results : 46,XX, (5;17)(q13;q21)[20]//
Karyotype at relapse : not applied
Other molecular cytogenetics technics : not done
Other molecular studies
technics : not done
t(5;17)(q13;q21) (G- banding)
To our knowledge, this is the third reported case of t(5;17)(q13;q21) in acute leukemia and the first described with this translocation as the sole cytogenetic anomaly.
The first case was described by Schoch in 1995, in a review concerning 17p anomalies in lymphoid malignancies. A complex karyotype including der(5)t(5;17)(q1:3;q21) was observed in a pre T-ALL, emerging from a T-cell NHL.
Zamora et al described in 2002, a case with this t(5;17) and chromosome 10 monosomy in a disease classified as T-ALL. Immunophenotyping of the blast cells showed positivity for CD34, lymphoid (TdT, CD2, CD3, CD5, CD7) and myeloid (CD117, CD13, CD33) antigens. Using the scoring system proposed by the European Group for the Immunologic classification of Leukemia (EGIL classification) this disease is now classified as biphenotypic leukemia (BAL).
The present case was the first that described the t(5;17) as a sole cytogenetic anomaly in AML. Unfortunately we could not review the first karyotype to see if there was a small clone with translocation, but the finding of the same phenotype at diagnosis and relapse suggests that this could be a primary event in this leukemia. More than this, this could be a very interesting rearrangement to study, as it was found in T-ALL, BAL and AML.
Internal links
Atlas Cardt(5;17)(q13;q21)
Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL).
Bene MC, Castoldi G, Knapp W, Ludwig WD, Matutes E, Orfao A, van't Veer MB.
Leukemia. 1995 Oct;9(10):1783-6.
PMID 7564526
17p anomalies in lymphoid malignancies: diagnostic and prognostic implications.
Schoch C, Rieder H, Stollmann-Gibbels B, Freund M, Tischler HJ, Silling-Engelhardt G, Fonatsch C.
Leuk Lymphoma. 1995 Apr;17(3-4):271-9.
PMID 8580796
Translocation (5;17)(q13;q21) in a case with precursor T-lymphoblastic lymphoma/leukemia.
Zamora L, Espinet B, Sole F, Salido M, Rodon N, Florensa L, Woessner S.
Cancer Genet Cytogenet. 2002 Jan 1;132(1):81-2.
PMID 11801318


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