CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
t(6;17)(p21;p13) associated with t(3;3)(q21;q26.2) in AML |
Written | 2018-01 | Adriana Zamecnikova |
Kuwait Cancer Control Center, Kuwait annaadria@yahoo.com |
Clinics |
Age and sex : | 25 year(s) old female patient. |
Previous History : | preleukemia |
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 : 20 x 109/L ; Hb : 86 g/dL ; platelets : 14 x 109/L; blasts : 12 % . |
Bone marrow : Hyperplastic bone marrow with dyserythropoiesis, megaloblastic erythropoiesis, presence of multinuclear forms, depressed megakaryocytes and 23% blasts. |
Cyto pathology classification |
Phenotype : Acute myeloid leukemia |
Immunophenotype : Positive for CD13, CD33, CD34, HLDR, CS45, CD11b, MPO and CD64, dim expression of CD14 and CD117. |
Precise diagnosis : AML with t(3;3)(q21;q26.2) |
Survival |
Date of diagnosis: 12-2017 |
Complete remission : None |
Karyotype |
Sample : bone marrow ; culture time : 24 h ; banding : G-banding |
Results : 45,XX,t(3;3)(q21;q26.2),t(6;17)(p21;p13),-7[14]/45,XY,t(3;3)(q21;q26.2),-7[4]/ 46,XX [2] |
Other molecular cytogenetics technics : Fluorescence in situ hybridization studies (FISH) were performed using Kreatechô MECOM (EVI1) t(3;3); inv(3)(3q26) Break FISH probe and SureFISH 17p13.3 (PAFAH1B1) and RUNX2 (6p21.1) probes. |
Other molecular cytogenetics results : Hybridization with EVI1 probe confirmed the rearrangement of the gene as a result of t(3;3)(q21;q36.2) on 10 metaphases and in 90 % of interphase cells. Hybridization with Vysis D7S486/ Vysis CEP 7 probe showed monosomy 7 in 90% of cells. FISH studies with SureFISH PAFAH1B1 and RUNX2 probes showed normal signals on 2 metaphases without t(6;17) and juxtaposition of PAFAH1B1 from 17p13.3 to 6p21.1 at the site of RUNX2 gene in 5 metaphases. |
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Figure 1. Karyotype of the patient with t(3;3)(q21;q26.2) and -7 (A) and with t(6;17)(p21;p13) as an additional anomaly (B). |
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Figure 2. (A) Fluorescence in situ hybridization with Kreatechô MECOM (EVI1) break apart probe confirmed the rearrangement of the gene as a result of t(3;3)(q21;q36.2). FISH studies with SureFISH PAFAH1B1 located at 17p.13.3 revealed juxtaposition of PAFAH1B1 from 17p13.3 to der(6) chromosome (B). Simultaneous hybridization with SureFISH PAFAH1B1 and RUNX2 probes showed cohybridization of PAFAH1B1 and RUNX2 genes on 6p21.1 (C). |
Comments |
We described here an AML patient with t(3;3)(q21;q26.2) associated with monosomy 7 and a rare translocation t(6;17)(p21;p13) (La Starza et al., 26). The chromosomal t(6;17)(p21;p13) was found in a sideline as an additional anomaly to t(3;3)(q21;q26.2) and monosomy 7, therefore likely representing a secondary aberration to these primary anomalies. inv(3)(q21q26.2) or t(3;3)(q21;q26.2) in AML or MDS result in deregulation of the proto-oncogene EVI1 (MECOM), which affect the RAS/receptor tyrosine kinase pathway. The concomitant monosomy 7 and t(6;17)(p21;p13) are probably cooperating genetic lesions that developed during malignant transformation processes in our patient. |
Internal links |
Atlas Card | t(6;17)(p21;p13) |
Case Report | t(6;17)(p21;p13) and acquisition of the Philadelphia chromosome translocation with p190 BCR-ABL1 transcript during the course of myelodysplastic syndrome |
Bibliography |
Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia. |
La Starza R, Aventin A, Matteucci C, Crescenzi B, Romoli S, Testoni N, Pierini V, Ciolli S, Sambani C, Locasciulli A, Di Bona E, Lafage-Pochitaloff M, Martelli MF, Marynen P, Mecucci C |
Leukemia 2006 Jun;20(6):958-64. |
PMID 16617324 |
Citation |
This paper should be referenced as such : |
Zamecnikova A |
t(6;17)(p21;p13) associated with t(3;3)(q21;q26.2) in AML |
Atlas Genet Cytogenet Oncol Haematol. in press |
On line version : http://AtlasGeneticsOncology.org/Reports/t0617p21p13AdrianaMECOMID100092.html |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 5 19:12:04 CET 2020 |
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