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Case Report Section
Paper co-edited with the European LeukemiaNet
t(1;21)(p32;q22) as a non-random abnormality in
AML M4
Lena Reindl, Claudia Haferlach
MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31, Germany (LR, CH)
Published in Atlas Database: August 2009
Online updated version : http://AtlasGeneticsOncology.org/Reports/0121ReindlID100041.html
DOI: 10.4267/2042/44812
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2010 Atlas of Genetics and Cytogenetics in Oncology and Haematology
(17%), CD33+ (63%), CD14 (19%) and CD64 (37%).
Diagnosis
AML M4
Clinics
Age and sex
63 years old female patient.
Previous history
No preleukemia; no previous malignancy; no inborn
condition of note.
Organomegaly
No hepatomegaly , no splenomegaly , no enlarged
lymph nodes, no central nervous system involvement.
Survival
Date of diagnosis: 06-2008
Treatment: None
Complete remission : no
Treatment related death : no
Relapse : no
Status : Lost
Blood
Karyotype
WBC : 3.980X 109/l
HB : 7.9g/dl
Platelets : 64.000X 109/l
Blasts : 48,5%
Sample: bone marrow
Culture time: 24 - 48h
Banding: GAG.
Results: 46,XX,t(1;21)(p32;q22)[15/15].
Other molecular cytogenetics technics:
FISH with commercial AML1 probe (Abbott) and
whole chromosome painting with WCP#1 and
WCP#21 (MetaSystems).
Other molecular cytogenetics results:
40% of cells with AML1-split.
Cyto-Pathology
Classification
Cytology
(FAB) AML M4.
Immunophenotype
Hypercellular bone marrow showed a myelomonocytic
blast population. 49.5% blasts were detected in total
bone marrow. 30% of the cells were clearly EST
positive.
Futhermore POX was positive, no ringsiderobalsts
were found and erythropoiesis showed dysplasia.
Myelomonocytic cells with MPO+ (48%), CD13+
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(7)
Other Molecular Studies
Technics: PCR
Results: Tandem duplication of MLL gene (MLL-PTD
positive).
710
t(1;21)(p32;q22) as a non-random abnormality in AML M4
Reindl L, Haferlach C
fusion a t(1;22)(p32;q22) (Aoki et al., 2008). The here
reported case is a 63-year-old female with an acute
myeloid leukemia (M4 by FAB subtype). So far the
cases have the same morphology in common.
Correlations to age or sex cannot be determined yet.
Call for Collaborations
Lena Reindl
MLL, Munich Leukemia Laboratory,
Max-Lebsche-Platz 31, Germany
[email protected]
Partial GTG-banding karyotype showing t(1;21)(p32;q22).
References
Cherry AM, Bangs CD, Jones P, Hall S, Natkunam Y. A unique
AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a
patient with acute myelomonocytic leukemia. Cancer Genet
Cytogenet. 2001 Sep;129(2):155-60
La Starza R, Trubia M, Crescenzi B, Matteucci C, Negrini M,
Martelli MF, Pelicci PG, Mecucci C. Human homeobox gene
HOXC13 is the partner of NUP98 in adult acute myeloid
leukemia with t(11;12)(p15;q13). Genes Chromosomes
Cancer. 2003 Apr;36(4):420-3
Dal Cin P, Yee AJ, Dey B.. A de novo AML with a
t(1;21)(p36;q22) in an elderly patient. Atlas Genet Cytogenet
Oncol
Haematol.
March
2007
URL
:
http://AtlasGeneticsOncology.org/Reports/0121DalCinID10002
1.html .
FISH and whole chromosome painting of the same metaphase
with t(1;21)(p32;q22); Left picture: AML1 probe on metaphase;
Right picture: whole chromosome painting, WCP#1 green,
WCP#21 red.
Aoki T, Miyamoto T, Yoshida S, Yamamoto A, Yamauchi T,
Yoshimoto G, Mori Y, Kamezaki K, Iwasaki H, Takenaka K,
Harada N, Nagafuji K, Teshima T, Akashi K. Additional
acquisition of t(1;21)(p32;q22) in a patient relapsing with acute
myelogenous leukemia with NUP98-HOXA9. Int J Hematol.
2008 Dec;88(5):571-4
Comments
Only two cases with t(1;21)(p32;q22) were described
so far in literature. The first reported case is a 25-yearold male with an acute myelomonoblastic leukemia
(M4 by FAB subtype) (Cherry et al., 2001). The second
patient, a 29-year-old Japanese male, showed a acute
myelogenous leukemia M4 with NUP98-HOXA9
fusion detected by PCR at the initial diagnosis. In
relapse he acquired additional to the NUP98-HOXA9
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(7)
This article should be referenced as such:
Reindl L, Haferlach C. t(1;21)(p32;q22) as a non-random
abnormality in AML M4. Atlas Genet Cytogenet Oncol
Haematol. 2010; 14(7):710-711.
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