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Diagnostic Pathology
Published in: Diagnostic Pathology 1/2016

Open Access 01-12-2016 | Case Report

Intraosseous inflammatory myofibroblastic tumor of the mandible with a novel ATIC-ALK fusion mutation: a case report

Authors: Yoko Tateishi, Koji Okudela, Shigeo Kawai, Takehisa Suzuki, Shigeaki Umeda, Mai Matsumura, Mitomu Kioi, Kenichi Ohashi

Published in: Diagnostic Pathology | Issue 1/2016

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Abstract

Background

Inflammatory myofibroblastic tumor (IMT) is a rare low-grade malignant neoplasm with a predilection for children and young adults, and typically arises in the lung, abdominopelvic region, and retroperitoneum. IMTs in the maxillofacial region are extreme rare. Approximately 50% of IMT harbor rearrangements of the anaplastic lymphoma kinase (ALK) gene at 2p23 with various fusion partners.

Case presentation

We herein report a case of intraosseous IMT of the mandible with a novel ATIC-ALK fusion. Tooth 43 did not erupt after the loss of tooth 83 in an 11-year-old girl with no previous history of trauma. Panoramic tomography showed a unilocular radiolucent lesion in the right anterior mandible resorbing the root of tooth 42 and the medial side of the root of tooth 44. Computed tomography revealed a well- circumscribed 3-cm osteolytic lesion of the right anterior mandible eroding the buccal cortical plate. The entire lesion was curetted out. A histopathological examination revealed the proliferation of plump spindle cells with a storiform architecture and lymphocytes scattered around spindle cells. The spindle cells showed diffuse cytoplasmic staining for ALK by immunohistochemistry. A fluorescence in situ hybridization analysis revealed the translocation of a part of the ALK gene locus at chromosome 2p23. A rapid amplification of cDNA ends analysis confirmed the rearrangement of ALK and identified ATIC as a partner of this ALK fusion mutant.

Conclusion

To the best of our knowledge, this is the first case of intraosseous IMT of the mandible with a novel ATIC-ALK fusion. We also herein reviewed similar tumors reported in the literature.
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Metadata
Title
Intraosseous inflammatory myofibroblastic tumor of the mandible with a novel ATIC-ALK fusion mutation: a case report
Authors
Yoko Tateishi
Koji Okudela
Shigeo Kawai
Takehisa Suzuki
Shigeaki Umeda
Mai Matsumura
Mitomu Kioi
Kenichi Ohashi
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2016
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/s13000-016-0586-z

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