Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| Translocation t(1;3)(p36;p21) and other aberrations in a case of AML secondary to MDS |
| Written | 2013-08 | Ana 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 |
| Clinics |
| 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 |
| Blood |
| 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 |
| Survival |
| 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) |
| Karyotype |
| 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) |
| 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. |
| Internal links |
| Atlas Card | t(1;3)(p36;p21) |
| Bibliography |
| 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 |
| t(1;3)(p36;p21). |
| Huret JL. |
| Atlas Genet Cytogenet Oncol Haematol. May 2002. URL : http://AtlasGeneticsOncology.org/Anomalies/t0103p36p21ID1237.html |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Reports/t0103p36p21BrazID100074.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Feb 19 18:59:08 CET 2020 |
For comments and suggestions or contributions, please contact us