t(1;21)(p32;q22) as a non-random abnormality in AML M4
2009-08-01 Lena Reindl, Claudia Haferlach AffiliationMLL, 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
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 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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11566347 | 2001 | A unique AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a patient with acute myelomonocytic leukemia. | Cherry AM et al |
| 12619167 | 2003 | Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13). | La Starza R et al |
| 19005624 | 2008 | Additional 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/t(1
