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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
A pediatric case of acute lymphoblastic leukemia with t(2;9)(q12;q34) (RANBP2/ABL1 fusion)
 
Written2015-12Marc De Braekeleer, Nadia Guéganic, Alexandra Schifferli, Joëlle Tchinda.
Cytogenetics Laboratory, Faculty of Medicine, University of Brest, France marc.debraekeleer@univ-brest.fr (MdeB, NG)) Department of Hematology/Oncology, University Children's Hospital Basel, Switzerland (AS) University Children's Hospital Zurich, Switzerland (JT).
Clinics
Age and sex : 21 month(s) old female patient.
Previous History : no 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 : 77.5 x 109/L ((N: 6-17.5)); Hb : 29 g/dL ((N: 105-135)); platelets : 69 (N: 150-450) x 109/L; blasts : 76 % .
Bone marrow : Hypercellular marrow, with 93.7% blasts (small to middle-sized cells with large nucleus and minimal cytoplasm).
Cyto pathology classification
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
Date of diagnosis: 01-2014
Treatment : Protocol AIEOP-BFM ALL 2009 high risk.
Complete remission was obtained
Treatment related death : -
Relapse : -
Status : Alive 12-2015
Survival : 23 month(s)
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 at relapse : not applicable.
Other molecular cytogenetics technics : fluorescence in situ hybridization(FISH) analysis using ETV6-RUNX1, 5'MLL-3'MLL, CEP4, CEP10, CEP17, 5'IGH-3'IGH, 3'TCF3-5'TCF3, BCR-ABL1.
FISH experiments with BAC clones located in bands 2q12.1 to 2q14.2.
Other molecular cytogenetics results : All negative, except for BCR-ABL1 with 3 ABL1 signals and 2 BCR signals.
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 molecular studies
technics : MLPA.
results : Negative.
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
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).
Internal links
Atlas Cardt(2;9)(q12;q34) RANBP2/ABL1
Bibliography
Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia.
Roberts KG, Morin RD, Zhang J, Hirst M, Zhao Y, Su X, Chen SC, Payne-Turner D, Churchman ML, Harvey RC, Chen X, Kasap C, Yan C, Becksfort J, Finney RP, Teachey DT, Maude SL, Tse K, Moore R, Jones S, Mungall K, Birol I, Edmonson MN, Hu Y, Buetow KE, Chen IM, Carroll WL, Wei L, Ma J, Kleppe M, Levine RL, Garcia-Manero G, Larsen E, Shah NP, Devidas M, Reaman G, Smith M, Paugh SW, Evans WE, Grupp SA, Jeha S, Pui CH, Gerhard DS, Downing JR, Willman CL, Loh M, Hunger SP, Marra MA, Mullighan CG.
Cancer Cell 2012; 22: 153-166
PMID 22897847
 

Citation

This paper should be referenced as such :
Braekeleer M de, Guéganic N, Schifferli A, Tchinda J
A pediatric case of acute lymphoblastic leukemia with t(2;9)(q12;q34) (RANBP2/ABL1 fusion)
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Reports/t0209q12q34BraekeleerID100084.html

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