Fusion in Primary and Metastatic Lesions of an Inflammatory Myofibroblastic Tumor

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作者：

LV Debelenko，DC Arthur，SD Pack，LJ Helman，DS Schrump，M Tsokos

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摘要：

Inflammatory myofibroblastic tumor (IMT) is a rare childhood neoplasm. The natural history of this disease is poorly understood. Recently chromosomal rearrangements involving the anaplastic lymphoma kinase () gene have been implicated in this tumor. We have studied a case of ALK-positive soft tissue IMT showing clinical and morphologic features of malignancy. Interphase fluorescence in situ hybridization demonstratedrearrangements in both primary and metastatic lesions. Rapid amplification of cDNA ends (5′RACE) identified cysteinyl-tRNA synthetase () gene fused to, which predicts an in-frame chimeric protein with the preserved functional catalytic domain of ALK at the C terminus. Amplification and sequencing of tumor DNA confirmed the breakpoint at the genomic level. Restriction analysis of DNA from primary soft tissue and recurrent lung tumors showed identical patterns, indicating the same clonal origin of both lesions. Western blot analysis with C-terminus ALK antibody showed expression of an aberrantly sized chimeric protein of approximately 130 kd in tumor tissue. This is the second case of IMT demonstratingas thefusion partner, which confirms the recurring involvement ofin IMT by a common genetic mechanism. Moreover, identical clonality of separate lesions involving different sites supports metastasis in IMT.

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关键词：

Humans Neck Fibroblasts Tumor Cells, Cultured Neoplasms, Muscle Tissue Amino Acyl-tRNA Synthetases DNA, Neoplasm RNA, Neoplasm Oncogene Proteins, Fusion Magnetic Resonance Imaging