良性小儿软组织肿瘤中 GRB2 相关结合蛋白 1 () 基因与 ABL 原癌基因 1 () 的反复融合。
Recurrent Fusion of the GRB2 Associated Binding Protein 1 () Gene With ABL Proto-oncogene 1 () in Benign Pediatric Soft Tissue Tumors.
机构信息
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
出版信息
Cancer Genomics Proteomics. 2020 Sep-Oct;17(5):499-508. doi: 10.21873/cgp.20206.
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.
背景/目的：ABL 原癌基因 1 融合基因（9q34 上的 ABL1）在白血病中常见，但在实体瘤中罕见。最显著的是 t(9;22)(q34;q11)/BCR-ABL1，编码嵌合酪氨酸激酶。本文报道了儿科肿瘤中的 ABL1 融合。
材料和方法
对儿童左竖脊肌内发现的软组织神经鞘瘤进行 G 带、荧光原位杂交、逆转录聚合酶链反应和 Sanger 测序。
结果
发现了一个 der(4)t(4;9)(q31;q34) 和 GRB2 相关结合蛋白 1（4q31 上的 GAB1）基因与 ABL1 的融合。文献检索显示，还有 3 例具有类似遗传和临床病理特征的病例：软组织神经鞘瘤伴 t(2;9;4)(p23;q34;q31)和 ABL1 重排、软组织血管纤维瘤伴 GAB1-ABL1 嵌合基因、孤立性纤维瘤携带 der(4)t(4;9)(q31.1;q34)。
结论
GAB1-ABL1 是良性儿科肿瘤中常见的融合基因。
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