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(Paper co-edited with the European LeukemiaNet)
A de novo AML with a t(1;21)(p36;q22) in an elderly patient
Written2007-03Paola Dal Cin, Andrew J Yee, Bimalangshu Dey
Department of Pathology, Brigham and Women's Hospital
Age and sex : 81 year(s) old male patient.
Previous History : no preleukemia
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; enlarged lymph nodes ; no central nervous system involvement
WBC : 3.3 x 109/L ; Hb : N/A g/dL ; platelets : 16 x 109/L; blasts : 2 % ((CD34+ myeloblasts)).
Bone marrow : 20% myeloid precursors, 16% erythroid precursor, 6% lymphocytes, 55% blasts and 2% plama cells.
Cyto pathology classification
Cytology : AML M0
Immunophenotype : CD33+, CD13+, MPO-, CD41-, CD61-, CD203c- (5% of all blast).
Rearranged Ig Tcr : N/A
Precise diagnosis : Immunophenotype consistent with the presence of myeloid precursors. Negative markers (CD61,CD41,CD203c) associated with megakaryocytic differentiation; AML M0.
Date of diagnosis: 01-2005
Treatment : Hydroxyurea and supportive care.
Complete remission : None
Treatment related death : -
Relapse : Patient never achieved complete remission.
Status : Dead 02-2005
Survival : 1 month(s)
Sample : Bone marrow ; culture time : 24 h ; banding : GTG
Results : 46,XY,t(1;21)(p36;q22)[15]
Other molecular cytogenetics technics : FISH with LSI (TEL/AML1 ES Dual Color Translocation Probe (Vysis, Inc.) on metaphases (see Fig 2).
Other molecular cytogenetics results : Ish der(1)(dimAML1+), der(21)(dimAML1+).
Partial GTG-banding karyotype showing t(1;21)(p36;q22)) (a )
Partial FISH analysis showing the AML1 hybridization signals on derivative chromosomes 1 and 21, and on the normal chromosome 21 (b)
The t(1;21)(p36;q22) so far reported, is generally observed as the sole chromosomal abnormality (5/6), and is mostly a de novo aberration (4/6). The short survival (one month) of our case, confirms the poor prognosis in these patients carrying this chromosome abnormality.
Internal links
Atlas Cardt(1.21)(p36;q22)
Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML.
Stevens-Kroef MJ, Schoenmakers EF, van Kraaij M, Huys E, Vermeulen S, van der Reijden B, van Kessel AG
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (6) : 1187-1189.
PMID 16598304
t(1;21)(p36;q22) - updated.
Marian StevensKroef
Atlas Genet Cytogenet Oncol Haematol. 2006 ; 10 (numero 3) : 422-426.
Contribution of multiparameter genetic analysis to the detection of genetic alterations in hematologic neoplasia. An evaluation of combining G-band analysis, spectral karyotyping, and multiplex reverse-transcription polymerase chain reaction (multiplex RT-PCR).
Preiss BS, Kerndrup GB, Pedersen RK, Hasle H, Lymphoma-Leukemia Study Group of the Region of Southern Denmark, Pallisgaard N
Cancer genetics and cytogenetics. 2006 ; 165 (1) : 1-8.
PMID 16490591


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