t(6;17)(p21;p13) associated with t(3;3)(q21;q26.2) in AML
2018-01-01 Adriana Zamecnikova AffiliationKuwait Cancer Control Center, Kuwait [email protected]
Previous history
Preleukaemia
+
Malignant disease
-
Inborn condition
-
Main items
-
Clinics case report
Age
25 yrs
Sex
F
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-
Blood data
Wbc
20
Hb
86
Platelets
14
Blasts
12
Bone marrow
Hyperplastic bone marrow with dyserythropoiesis, megaloblastic erythropoiesis, presence of multinuclear forms, depressed megakaryocytes and 23% blasts.
Cyto path
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 data
Date diagnosis
12-2017
Complete remission
-
Date last follow
12-2017
Karyotype
Sample
bone marrow
Culture time
24
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]
Mol cytogenet 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.
Mol cytogenet 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.
Images
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 section
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16617324 | 2006 | Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia. | La Starza R et al |
Citation
Adriana Zamecnikova
t(6;17)(p21;p13) associated with t(3;3)(q21;q26.2) in AML
Atlas Genet Cytogenet Oncol Haematol. 2018-01-01
Online version: http://atlasgeneticsoncology.org/case-report/208890/t(6
