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(Paper co-edited with the European LeukemiaNet)
A t(4;12)(q11;p13) in a patient with coincident CLL at the same time of AML diagnosis
Written2007-05Paola Dal Cin, Daniel J DeAngelo, Richard M Stone
(PDC) Department of Pathology, Brigham and Womens Hospital ; (DJD, RMS) Department of Adult Oncology, Dana-Farber Cancer Institute, Boston, MA
Age and sex : 56 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease (, but coincident CLL at the same time of AML diagnosis. No prior therapy for CLL)
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement (symptoms (no LP done))
WBC : 52.2 x 109/L ; Hb : 10.2 g/dL ; platelets : 158.0 x 109/L; blasts : 86 % ((peripheral blood)).
Bone marrow : Bone Marrow Differential : Cellularity : o.k.- Megakaryocytes : present - Blasts : 66% "blast like" immature forms - Promyelocytes : 1% - Myeloid Activity : 13% - Erythroid Activity : 6% - Lymphocytes : 13% - Other : -
Cyto pathology classification
Cytology : M0
Immunophenotype : A population of immature cells positive for CD45(dim), HLA-DR, CD7, CD34 (majority) and myeloid markers CD33 and CD13, with absence of staining for B cell, monocytic, and other T cell markers, consistent with myeloblast. A minor clonal kappa positive (moderate intensity) population of CD5 positive B cells which were negative for CD23 was also detected, suggesting a co-existing CD5 positive B cell lymphoproliferative disorder. A minor population of CD19 positive B cells co-expresses CD5 and exhibits monotypic surface immunoglobulin kappa light chain staining, consistent with involvement by the patient's known B cell lymphoproliferative disorder.
Rearranged Ig Tcr : n/a
Pathology : Cellular aspirate with prominent population of "blast-like" large cells with dispersed chromatin, distinct nucleoli and modest amounts of blue, agranular cytoplasm.
Electron microscopy : n/a
Precise diagnosis : Acute Myelogenous Leukemia and Chronic Lymphocytic Leukemia
Date of diagnosis: 01-2002
Treatment : Induction: ADE consisting of daunorubicin, cytarabine and etoposide plus PSC-833 (he was randomized to the treatment arm) on CALGB 19808. Consolidation with high-dose cytarabine and etoposide with stem cell harvest as per CALGB 19808.Auto stem cell transplant: on April 24, 2002. Conditioning regimen consisted of busulfan and etoposide as per CALGB 19808.
Complete remission was obtained
Comments : on BM on Feb 8, 2002
Treatment related death : -
Relapse : + June 17, 2003
Phenotype at relapse : AML M0
Status : Dead 06-2003
Survival : 21 month(s)
Sample : Bone Marrow ; culture time : 24 h ; banding : GTG
Results : 46,XY,t(4;12)(q11-12;p13)[18]/46,XY[2]
Karyotype at relapse : 46,XY,t(4;12)(q11-q2;p13),+16,-17[1]/46,XY[19]
Other molecular studies
technics : FISH with LSI (TEL/AML1 ES Dual Color Translocation Probe (Vysis, Inc.)) on metaphases
results : ish der(4)(dimTEL+), der(12)(dimTEL+)
Partial GTG-banding karyotype showing t(4;12)(q11;p13) (a ). Partial FISH analysis showing the ETV6 hybridization signals on derivative chromosomes 4 and 12, and on the normal chromosome 12 (b)é
The findings are consistent with AML. Although histologic features of chronic lymphocytic leukemia (CLL) are not seen, flow cytometric analysis shows a small subset of monoclonal B cells, consistent with persistent involvement by the patient's known CLL.
Internal links
Atlas Cardt(4;12)(q11-q21;p13)
Case Report
Case Reportt(4;12)(q11;p13) in an acute myeloid leukemia without maturation with myelodysplasia


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