CASE REPORTS in HAEMATOLOGY (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

Paola Dal Cin, Daniel J DeAngelo, Richard M Stone

Clinics

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

Blood

WBC : 52.2 x 109/l; Hb : 10.2 g/dl; platelets : 158.0 x 109/l; blasts : 86% ((peripheral blood))

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

Survival

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.ƯAuto 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)

Karyotype

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)‚

Comments

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 Card	t(4;12)(q11-q21;p13)
Case Report
Case Report	t(4;12)(q11;p13) in an acute myeloid leukemia without maturation with myelodysplasia

Bibliography

Loss of the NPM1 gene in myeloid disorders with chromosome 5 rearrangements.

Berger R, Busson M, Baranger L, Hˆ©lias C, Lessard M, Dastugue N, Speleman F

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (2) : 319-321.

PMID 16341035

Contributor(s)

Written

05-2007

Paola Dal Cin, Daniel J DeAngelo, Richard M Stone

Citation

This paper should be referenced as such :

Dal Cin P, DeAngelo DJ, Stone RM . A t(4;12)(q11;p13) in a patient with coincident CLL at the same time of AML diagnosis. Atlas Genet Cytogenet Oncol Haematol. May 2007 . URL : http://AtlasGeneticsOncology.org/Reports/0412DalCinID100023.html

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indexed on : Mon Aug 11 21:22:51 2008

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