Ioannis Panagopoulos1, Ludmila Gorunova2, Kristin Andersen2, Svetlana Tafjord3, Marius Lund-Iversen3, Ingvild Lobmaier3, Francesca Micci2, Sverre Heim2,4. 1. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ioannis.panagopoulos@rr-research.no. 2. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. 3. Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. 4. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Abstract
BACKGROUND/AIM: Fusions 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. MATERIALS AND METHODS: 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. RESULTS: 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). CONCLUSION: GAB1-ABL1 is a recurrent fusion gene in benign pediatric tumors. Copyright
BACKGROUND/AIM: Fusions 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. MATERIALS AND METHODS: 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. RESULTS: 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). CONCLUSION:GAB1-ABL1 is a recurrent fusion gene in benign pediatric tumors. Copyright
Authors: Yuesheng Jin; Emely Möller; Karolin H Nord; Nils Mandahl; Fredrik Vult Von Steyern; Henryk A Domanski; Adrian Mariño-Enríquez; Linda Magnusson; Jenny Nilsson; Raf Sciot; Christopher D M Fletcher; Maria Debiec-Rychter; Fredrik Mertens Journal: Genes Chromosomes Cancer Date: 2012-02-15 Impact factor: 5.006
Authors: Fabiola S Balarezo; Richard C Muller; Richard G Weiss; Timothy Brown; David Knibbs; Vijay V Joshi Journal: Pediatr Dev Pathol Date: 2003-01-28
Authors: Jodi M Carter; Yanhong Wu; Melissa M Blessing; Andrew L Folpe; Erik C Thorland; Robert J Spinner; Mark E Jentoft; Chen Wang; Saurabh Baheti; Zhiyv Niu; Michelle L Mauermann; Christopher J Klein Journal: Am J Surg Pathol Date: 2018-12 Impact factor: 6.394