Ioannis Panagopoulos, Ludmila Gorunova, Kristin Andersen, Svetlana Tafjord, Marius Lund-Iversen, Ingvild Lobmaier, Francesca Micci, Sverre Heim
Cancer genomics & proteomics 2020 Sep-OctFusions of the ABL proto-oncogene 1 gene (ABL1 in 9q34) are common in leukemias but rare in solid tumors. The most notable is the t(9;22)(q34;q11)/BCR-ABL1 coding for a chimeric tyrosine kinase. We herein report an ABL1-fusion in a pediatric tumor. G-banding, fluorescence in situ hybridization, reverse transcription polymerase chain reaction and Sanger sequencing were performed on a soft tissue perineurioma found in the left musculus erector spinae of a child. A der(4)t(4;9)(q31;q34) and a fusion of the GRB2 associated binding protein 1 (GAB1 in 4q31) gene with ABL1 were found. A literature search revealed 3 more cases with similar genetic and clinicopathological characteristics: a soft tissue perineurioma with t(2;9;4)(p23;q34;q31) and ABL1 rearrangement, a soft tissue angiofibroma with a GAB1-ABL1 chimeric gene, and a solitary fibrous tumor carrying a der(4)t(4;9)(q31.1;q34). GAB1-ABL1 is a recurrent fusion gene in benign pediatric tumors. Copyright© 2020, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.
Ioannis Panagopoulos, Ludmila Gorunova, Kristin Andersen, Svetlana Tafjord, Marius Lund-Iversen, Ingvild Lobmaier, Francesca Micci, Sverre Heim. Recurrent Fusion of the GRB2 Associated Binding Protein 1 (GAB1) Gene With ABL Proto-oncogene 1 (ABL1) in Benign Pediatric Soft Tissue Tumors. Cancer genomics & proteomics. 2020 Sep-Oct;17(5):499-508
PMID: 32859628
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