Inflammatory myofibroblastic tumor of the urinary bladder with FN1‑ALK gene fusion: A case report

Son,Seung-Myoung; Woo,Chang Gok; Lee,Ok-Jun; Kim,Yong June; Lee,Ho-Chang

doi:10.3892/ol.2023.13813

Inflammatory myofibroblastic tumor of the urinary bladder with FN1‑ALK gene fusion: A case report

Authors:
- Seung-Myoung Son
- Chang Gok Woo
- Ok-Jun Lee
- Yong June Kim
- Ho-Chang Lee
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Affiliations: Department of Pathology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, North Chungcheong 28644, Republic of Korea, Department of Urology, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, North Chungcheong 28644, Republic of Korea
Published online on: April 13, 2023 https://doi.org/10.3892/ol.2023.13813
Article Number: 227
Copyright: © Son et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Inflammatory myofibroblastic tumors (IMTs), which are rare tumors, exhibit myofibroblastic differentiation, often with anaplastic lymphoma kinase (ALK) gene rearrangements. A subset of IMTs identified in the urinary tract have been shown to harbor a fibronectin 1 (FN1)‑ALK gene fusion. In this case report, a case of an IMT with FN1‑ALK fusion in the urinary bladder was presented, and its clinicopathological characteristics were reviewed. A 45‑year‑old female was referred to Chungbuk National University Hospital with gross hematuria. Cystoscopy revealed a solid mass in the bladder. The patient subsequently underwent transurethral resection of the lesion. The mass comprised stellate and spindled myofibroblastic cells that were arranged in loose fascicles, with a myxoid background and a mixed inflammatory infiltrate. Immunohistochemical analysis revealed that the tumor cells were positive for vimentin, cytokeratin AE1/AE3 and ALK, and focal‑positive for desmin. Targeted next‑generation sequencing was subsequently employed to identify the FN1‑ALK fusion. To date, the patient has undergone outpatient follow‑up for 18 months, with no signs of tumor recurrence. To conclude, in total, FN1 has been identified as an ALK fusion partner almost exclusively in cases of genitourinary IMTs [13 bladder IMTs (including the present case) and two uterine IMTs]. In the present case, the FN1‑ALK fusion was found to involve ALK exon 19 and FN1 exon 23. By contrast, the majority of the other IMTs with an ALK fusion have involved ALK exon 20, whereas ALK fusion involving ALK exon 18 or 19 has been reported only in genitourinary IMTs. Therefore, the FN1‑ALK fusion involving ALK exon 18 or 19 may be specific to a subset of IMTs arising in the urinary bladder.

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