t(17;21)(q11.2;q22) as a sole aberration in acute myelomonocytic leukemia
2012-02-01 Helena Podgornik, Peter Cernelc AffiliationUniversity medical center Ljubljana, Department of Haematology, Zaloska 7, 1000 Ljubljana, Slovenia
Previous history
Preleukaemia
-
Malignant disease
-
Inborn condition
-
Clinics case report
Age
87 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-
Blood data
Wbc
30,6
Hb
99
Platelets
71
Blasts
3
Bone marrow
28 of blasts) (Hypercellular; 28% of blasts; 20% of monocytic lineage, dispoiesis in megakariocytic lineage and diserithropoiesis
Cyto path
Cytology
Acute myelomonocytic leukemia
Immunophenotype
CD4-/CD11c+/CD13+/CD14+/CD15+/CD33+/CD34+↓/CD45+/ CD64+/CD65+/MPO+↓
Rearranged ig tcr
-
Pathology
Not done
Electron microscopy
Not done
Precise diagnosis
Acute myelomonocytic leukemia
Survival data
Date diagnosis
04-2011
Treatment
Symptomatic (antibiotics)
Complete remission
-
Treatment relat death
-
Relapse
-
Status
D
Date last follow
04-2011
Survival
1
Karyotype
Sample
Bone marrow
Culture time
24
Banding
GTG
Results
46,XY,t(17;21)(q11.2;q22)[19]/46,XY[1]
Mol cytogenet technics
FISH; LSI RUNX1/RUNX1T1, LSI MLL (Abbott); WC 17, 21 (Kreatech)
Mol cytogenet results
nuc ish(RUNX1T1x2,RUNX1x3)[130/200]; ish t(17;21)(WCP17+,WCP21+;WCP17+,WCP21+)
Other molec studies
Technics
PCR
Results
FLT3-ITD - negative; NPM1 mutation - negative.
Images
Figure 1. Partial Karyograme with a balanced translocation t(17;21)(q11.2;q22).
Figure 2. GTG banded metaphase chromosomes.
Figure 3. FISH on previously GTG banded chromosomes (Fig. 2). WC 17 (aqua) and WC 21 (red) (Kreatech).
Figure 4. Metaphase FISH by LSI AML1(RUNX1)/ETO(RUNX1T1) DNA probe (Abbott) with split signal for RUNX1 (green). On GTG banded metaphase normal 21 with the strong RUNX1 signal and both derivatives with split RUNX1 signals are indicated.
Comments section
Comments
We report the first case of t(17;21)(q11.2;q22) as the sole anomaly in AML. This rare recurrent abnormality has been linked to treatment related leukemia or MDS although it has been also found in de novo leukemia (Roulston et al., 1998; Nadal et al., 2008). Our patient had no previous history of cancer or preleukemia. Cytomorphology of bone marrow cells was, however consistent with dysplastic changes typical for s-AML. FISH analysis with probe specific for RUNX1 has been done in two previous cases with t(17;21)(q11.2;q22). While in one patient RUNX1 has been lost (Nadal et al., 2008) our result corresponds to the case of Roulston et al. (Roulston et al., 1998) where signals from RUNX1 were split by the translocation. Due to his age and poor physical condition our patient was not treated by intensive chemotherapy and he died within a month from diagnosis.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9763573 | 1998 | CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy. | Roulston D et al |
| 15390187 | 2004 | Analysis of translocations that involve the NUP98 gene in patients with 11p15 chromosomal rearrangements. | Kobzev YN et al |
| 18206548 | 2008 | RUNX1 rearrangements in acute myeloblastic leukemia relapsing after hematopoietic stem cell transplantation. | Nadal N et al |
Citation
Helena Podgornik, Peter Cernelc
t(17;21)(q11.2;q22) as a sole aberration in acute myelomonocytic leukemia
Atlas Genet Cytogenet Oncol Haematol. 2012-02-01
Online version: http://atlasgeneticsoncology.org/case-report/208861/t(17
