A pediatric case of acute lymphoblastic leukemia with t(2;9)(q12;q34) (RANBP2/ABL1 fusion)
2015-12-01 S Marc De Braekeleer, Nadia Guéganic, Alexandra Schifferli, Joëlle Tchinda. AffiliationCytogenetics Laboratory, Faculty of Medicine, University of Brest, France [email protected] (MdeB, NG)) Department of Hematology/Oncology, University Children s Hospital Basel, Switzerland (AS) University Children s Hospital Zurich, Switzerland (JT).
Previous history
Preleukaemia
-
Malignant disease
-
Inborn condition
-
Clinics case report
Age
21 mths
Sex
F
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-t
Blood data
Wbc
77.5 (N: 6-17.5)
Hb
29 (N: 105-135)
Platelets
69 (N: 150-450)
Blasts
76
Bone marrow
Hypercellular marrow, with 93.7% blasts (small to middle-sized cells with large nucleus and minimal cytoplasm).
Cyto path
Phenotype
Pre-B acute lymphoblastic leukemia.
Immunophenotype
cTDT, cCD79a, cIgM, CD19 and CD20 positive.
Rearranged ig tcr
not performed.
Precise diagnosis
Pre-B acute lymphoblastic leukemia.
Survival data
Date diagnosis
01-2014
Treatment
Protocol AIEOP-BFM ALL 2009 high risk.
Complete remission
+
Treatment relat death
-
Relapse
-
Status
A
Date last follow
12-2015
Survival
23 +
Karyotype
Sample
bone marrow.
Banding
G banding.
Results
46,XX,t(2;9)(q12-14;q34),add(5)(p14)[5]/46,sl,-7,+mar[2]/46,XX[3]
Karyotype relapse
not applicable.
Mol cytogenet technics
FISH experiments with BAC clones located in bands 2q12.1 to 2q14.2.
Mol cytogenet results
A split signal on der(2) and der(9) was found with RP11-622D1, RP11-347H10, RP11-259O12, RP11-348G16 and RP11-953L12. These BAC clones overlap the RANBP2 gene and allow refinement of the breakpoint to a 25kb region covering the 5 end and the first three exons of RANBP2.
Other molec studies
Technics
MLPA.
Results
Negative.
Images
GTG banding showing chromosomes 2 and 9 and the derivatives der(2) and der(9).
FISH with BACs RP11-953L12 (spectrum green, located in 2q12 and containing RANBP2) and RP11-83J21 (spectrum orange, located in 9q34 and containing the 3 part of ABL1) and CEP9 (in aqua) showing one fusion signal on der(2). No fusion is detected on der(9) because RP11-83J21 does not cover the 5 part of ABL1.
Comments section
Comments
We present here a unique case of pediatric acute lymphoblastic leukemia. This fusion gene was identified in another case by RNA-sequencing (Roberts et al., 2012).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 22897847 | 2012 | Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia. | Roberts KG et al |
Citation
S Marc De Braekeleer, Nadia Guéganic, Alexandra Schifferli, Joëlle Tchinda.
A pediatric case of acute lymphoblastic leukemia with t(2;9)(q12;q34) (RANBP2/ABL1 fusion)
Atlas Genet Cytogenet Oncol Haematol. 2015-12-01
Online version: http://atlasgeneticsoncology.org/case-report/208882/a-pediatric-case-of-acute-lymphoblastic-leukemia-with-t(2
