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

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
63 yrs
Sex
F
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
3.980
Hb
7.9
Platelets
64
Blasts
48,5

Cyto path

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 data

Date diagnosis
06-2008
Treatment
None
Complete remission
-
Treatment relat death
-
Relapse
-
Status
Lost

Karyotype

Sample
bone marrow
Culture time
24 - 48h
Banding
GAG.
Results
46,XX,t(1;21)(p32;q22)[15/15].
Mol cytogenet technics
FISH with commercial AML1 probe (Abbott) and whole chromosome painting with WCP#1 and WCP#21 (MetaSystems).
Mol cytogenet results
40% of cells with AML1-split.

Other molec studies

Technics
PCR
Results
Tandem duplication of MLL gene (MLL-PTD positive).

Images

Atlas Image
Partial GTG-banding karyotype showing t(1;21)(p32;q22).
Atlas Image
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 section

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 collab
lena.reindl@mll-online.com

Article Bibliography

Pubmed IDLast YearTitleAuthors
115663472001A unique AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a patient with acute myelomonocytic leukemia.Cherry AM et al
126191672003Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13).La Starza R et al
190056242008Additional acquisition of t(1;21)(p32;q22) in a patient relapsing with acute myelogenous leukemia with NUP98-HOXA9.Aoki T et al

Citation

Lena Reindl, Claudia Haferlach

t(1;21)(p32;q22) as a non-random abnormality in AML M4

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/case-report/208839/favicon/gene-explorer/