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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
t(1;21)(p32;q22) as a non-random abnormality in AML M4
 
Written2009-08Lena Reindl, Claudia Haferlach
MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31, Germany
Clinics
Age and sex : 63 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
Blood
WBC : 3.980 x 109/L ; Hb : 7.9 g/dL ; platelets : 64 x 109/L; blasts : 48 % (5).
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+ (17%), CD33+ (63%), CD14 (19%) and CD64 (37%).
Precise diagnosis : AML M4
Survival
Date of diagnosis: 06-2008
Treatment : None
Complete remission : None
Treatment related death : -
Relapse : -
Status : Lost
Karyotype
Sample : bone marrow ; culture time : 24 - 48 h ; 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.
Other molecular studies
technics : PCR
results : Tandem duplication of MLL gene (MLL-PTD positive).
Partial GTG-banding karyotype showing t(1;21)(p32;q22).
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.
Comments
Only two cases with t(1;21)(p32;q22) were described so far in literature. The first reported case is a 25-year-old 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 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 collaboration
Lena Reindl
MLL, Munich Leukemia Laboratory,
Max-Lebsche-Platz 31, Germany
lena.reindl@mll-online.com
Internal links
Atlas Cardt(1;21)(p32;q22)
Bibliography
A unique AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a patient with acute myelomonocytic leukemia.
Cherry AM, Bangs CD, Jones P, Hall S, Natkunam Y.
Cancer Genet Cytogenet. 2001 Sep;129(2):155-60.
PMID 11566347
 
Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13).
La Starza R, Trubia M, Crescenzi B, Matteucci C, Negrini M, Martelli MF, Pelicci PG, Mecucci C.
Genes Chromosomes Cancer. 2003 Apr;36(4):420-3.
PMID 12619167
 
A de novo AML with a t(1;21)(p36;q22) in an elderly patient.
Dal Cin P, Yee AJ, Dey B.
Atlas Genet Cytogenet Oncol Haematol. March 2007 URL : http://AtlasGeneticsOncology.org/Reports/0121DalCinID100021.html .
 
Additional acquisition of t(1;21)(p32;q22) in a patient relapsing with acute myelogenous leukemia with NUP98-HOXA9.
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.
Int J Hematol. 2008 Dec;88(5):571-4. Epub 2008 Nov 13.
PMID 19005624
 

Citation

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