Translocation t(1;3)(p36;p21) and other aberrations in a case of AML secondary to MDS
2013-08-01 Ana Teresa Schmid Braz, Lismeri W Merfort, Valderez R Jamur, Tamara Borgonovo, Ana Paula Azambuja, Mariester Malvezzi AffiliationHospital de Clinicas, Federal University of Parana, Curitiba, Parana, Brazil
Previous history
Preleukaemia
+ MDS-RAEB1 (6,6% blasts BM, normal karyotype) (03/2008)
Malignant disease
-
Inborn condition
-
Note
WBC: 2,32 x 109/l; Hb: 7,0 g/dl; Platelets: 15 x 109/l; Blasts: 0% (PB)
Clinics case report
Age
45 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-
Blood data
Wbc
101
Hb
9,3
Platelets
18
Blasts
92 (PB)
Bone marrow
blasts: 87%, red cells: 1% and lymphocytes: 12%
Cyto path
Immunophenotype
CD15-/+ (35%),CD33-/+ (17%), CD34-/+ (64%), CD45+/++, CD64-/+ weak, CD117+/++, CD123+, HLA-DR+/+++ heterogeneous. Negativity: CD3, CD4,CD8, CD36.
Pathology
Acute Myeloid Leukemia, M2
Survival data
Date diagnosis
03-2008
Treatment
Allogenic Bone Marrow Transplantation: 1st 04-2008 and 2nd 08-2009. The patient was treated with alkylating agents (cyclophosphamide and Busulfan) during conditioning regimen for the first bone marrow transplantation. For the second one, it was used cyclophosphamide and TBI (total body irradiation).
Complete remission
+
Treatment relat death
-
Relapse
+
Status
D
Date last follow
04-2013
Survival
49
Karyotype
Sample
Bone marrow
Culture time
24
Banding
GTG
Results
46,XY,t(1;3)(p36.2;p21),t(4;5)(q31;q35),t(5;16)(q13;p13.3),del(7)(p15),t(13;22)(q13;q13)[20]
Images
Partial karyotypes with G-banding showing the t(1;3)(p36.2;p21)
Comments section
Comments
The patient was diagnosed as MDS-RAEB1 in 2008. In the same year he underwent a bone marrow transplantation. One year after (2009) he relapsed as sAML. He was submitted to a second HSCT. He was in remission until 2011, when the disease relapsed as AML. In 2012 a third remission was achieved. In 2013 he relapsed as AML M2 after the last therapy. At this point he presented this complex karyotype: 46,XY,t(1;3)(p36.2;p21),t(4;5)(q31;q35),t(5;16)(q13;p13.3),del(7)(p15),t(13;22)(q13;q13). Data reported in literature suggest that 3p21 is a recurrent treatment-related breakpoint in MDS and AML (Shi et al., 1996). The t(1;3)(p36;p21) is a recurring chromosomal translocation and it was described after treatment with alkylating agent in several cases (Sato et al., 2002). Our patient was also treated with alkylating agents (cyclophosphamide and Busulfan) during conditioning regimen for the first bone marrow transplantation. For the second one, it was used cyclophosphamide and TBI (total body irradiation). Sato et al., 2002 and other reports have described a high frequency of abnormalities of chromosomes 5 and 7 (Smith et al., 2003) as part of a complex karyotype in patients with t(1;3). In our report, we could observe both chromosome 5 involved in different aberrations. It was not possible to prove all the aberrations with FISH (not available in our service) and also we couldn t find t(13;22) in other reports.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 2310831 | 1990 | Cytogenetic analysis of chimerism and leukemia relapse in chronic myelogenous leukemia patients after T cell-depleted bone marrow transplantation. | Offit K et al |
| 8976389 | 1996 | 3p21 is a recurrent treatment-related breakpoint in myelodysplastic syndrome and acute myeloid leukemia. | Shi G et al |
| 11921275 | 2002 | Unique balanced chromosome abnormalities in treatment-related myelodysplastic syndromes and acute myeloid leukemia: report from an international workshop. | Olney HJ et al |
| 11979552 | 2002 | t(1;3)(p36;p21) is a recurring therapy-related translocation. | Sato Y et al |
| 12623843 | 2003 | Clinical-cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: the University of Chicago series. | Smith SM et al |
Citation
Ana Teresa Schmid Braz, Lismeri W Merfort, Valderez R Jamur, Tamara Borgonovo, Ana Paula Azambuja, Mariester Malvezzi
Translocation t(1;3)(p36;p21) and other aberrations in a case of AML secondary to MDS
Atlas Genet Cytogenet Oncol Haematol. 2013-08-01
Online version: http://atlasgeneticsoncology.org/case-report/208872/translocation-t(1
