Case Reports t0103p36p21BrazID100074

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(Paper co-edited with the European LeukemiaNet)
Translocation t(1;3)(p36;p21) and other aberrations in a case of AML secondary to MDS
Written2013-08Ana Teresa Schmid Braz, Lismeri W Merfort, Valderez R Jamur, Tamara Borgonovo, Ana Paula Azambuja, Mariester Malvezzi
Hospital de Clinicas, Federal University of Parana, Curitiba, Parana, Brazil
Age and sex : 45 year(s) old male patient.
Previous History : preleukemia (MDS-RAEB1 (6,6% blasts BM, normal karyotype) (03/2008))
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 101 x 109/L ; Hb : 9 g/dL (3); platelets : 18 x 109/L; blasts : 92 % ((PB)).
Bone marrow : blasts: 87%, red cells: 1% and lymphocytes: 12%
Cyto pathology classification
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
Date of 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 was obtained
Treatment related death : -
Relapse : +
Status : Dead 04-2013
Survival : 49 month(s)
Sample : Bone marrow ; culture time : 24 h ; 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]
Partial karyotypes with G-banding showing the t(1;3)(p36.2;p21)
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.
Internal links
Atlas Cardt(1;3)(p36;p21)
Cytogenetic analysis of chimerism and leukemia relapse in chronic myelogenous leukemia patients after T cell-depleted bone marrow transplantation.
Offit K, Burns JP, Cunningham I, Jhanwar SC, Black P, Kernan NA, O'Reilly RJ, Chaganti RS.
Blood. 1990 Mar 15;75(6):1346-55.
PMID 2310831
3p21 is a recurrent treatment-related breakpoint in myelodysplastic syndrome and acute myeloid leukemia.
Shi G, Weh HJ, Martensen S, Seeger D, Hossfeld DK.
Cytogenet Cell Genet. 1996;74(4):295-9.
PMID 8976389
Huret JL.
Atlas Genet Cytogenet Oncol Haematol. May 2002. URL :
Unique balanced chromosome abnormalities in treatment-related myelodysplastic syndromes and acute myeloid leukemia: report from an international workshop.
Olney HJ, Mitelman F, Johansson B, Mrozek K, Berger R, Rowley JD.
Genes Chromosomes Cancer. 2002 Apr;33(4):413-23.
PMID 11921275
t(1;3)(p36;p21) is a recurring therapy-related translocation.
Sato Y, Izumi T, Kanamori H, Davis EM, Miura Y, Larson RA, Le Beau MM, Ozawa K, Rowley JD.
Genes Chromosomes Cancer. 2002 Jun;34(2):186-92.
PMID 11979552
Clinical-cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: the University of Chicago series.
Smith SM, Le Beau MM, Huo D, Karrison T, Sobecks RM, Anastasi J, Vardiman JW, Rowley JD, Larson RA.
Blood. 2003 Jul 1;102(1):43-52. Epub 2003 Mar 6.
PMID 12623843

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