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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
 
Written2018-01Adriana 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.
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).
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 Cardt(6;17)(p21;p13)
Case Reportt(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

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indexed on : Thu Aug 16 13:44:02 CEST 2018

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