Intraosseous inflammatory myofibroblastic tumor of the mandible with a novel ATIC-ALK fusion mutation: a case report
| Autor: | Mai Matsumura, Yoko Tateishi, Shigeaki Umeda, Shigeo Kawai, Koji Okudela, Kenichi Ohashi, Takehisa Suzuki, Mitomu Kioi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Histology Anaplastic lymphoma kinase gene Oncogene Proteins Fusion 5′ rapid amplification of cDNA ends RT-PCR Chromosomal translocation Case Report Mandible Biology Granuloma Plasma Cell Pathology and Forensic Medicine Lesion 03 medical and health sciences Inflammatory myofibroblastic tumor 0302 clinical medicine hemic and lymphatic diseases medicine Biomarkers Tumor Anaplastic lymphoma kinase Humans Mandibular Diseases Child ATIC-ALK fusion In Situ Hybridization Fluorescence Inflammation Lung medicine.diagnostic_test Medial side Fluorescence in situ hybridization General Medicine Anatomy Immunohistochemistry Osteolytic lesion 030104 developmental biology medicine.anatomical_structure 030220 oncology & carcinogenesis Female medicine.symptom |
| Zdroj: | Diagnostic Pathology |
| ISSN: | 1746-1596 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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