Translocation t(1;3)(p36;p21) and other aberrations in a case of AML secondary to MDS

Ana Teresa Schmid Braz, Lismeri W Merfort, Valderez R Jamur, Tamara Borgonovo, Ana Paula Azambuja, Mariester Malvezzi Affiliation

Hospital 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

Liver

Spleen

Lymph nodes

Cns involv

Blood data

Wbc

101

9,3

Platelets

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

Date last follow

04-2013

Survival

Karyotype

Sample

Bone marrow

Culture time

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.

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;3)(p36;p21)-and-other-aberrations-in-a-case-of-aml-secondary-to-mds