CASE REPORT article
Front. Oncol.
Sec. Head and Neck Cancer
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1616075
This article is part of the Research TopicAdvancements in Personalized Medicine for Head and Neck Cancer: Molecular-based Approaches to Treatment and CareView all 3 articles
Novel ALK gene mutation in inflammatory myofibroblastic tumor of the thyroid: a case report
Provisionally accepted
- 1Affiliated Hospital of Zunyi Medical University, Zunyi, China
- 2guizhou, zunyi, China
- 3Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, Beijing, China
- 4Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong Province, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Background: Inflammatory myofibroblastic tumor (IMT) is a rare soft tissue neoplasm, exceptionally uncommon in the thyroid. Approximately 50%-70% of IMT cases exhibit ALK gene rearrangements or fusions, while ALK point mutations are rare.We report a novel ALK gene mutation, ALK-R395H, in a case of thyroid IMT and review the relevant literature.Case Report: A 43-year-old female patient presented with a thyroid mass discovered two months prior. Ultrasound revealed a solid hypoechoic mass in the middle of the left thyroid lobe. Histopathology showed characteristic spindle cell proliferation with plasma cell and lymphocyte infiltration. Immunohistochemistry demonstrated strong expression of Vimentin and ALK-1 in spindle cells, focal SMA expression, and strong positivity for Galectin-3, PAX-8, and TTF-1. Next-generation sequencing identified mutations in NTRK1, GNAS, RB1, and ALK, with a G1184A mutation in ALK exon 5, resulting in a missense mutation ALK(p.R395H) in the extracellular domain, the function of which remains to be elucidated. The pathological diagnosis was thyroid IMT; however, strong expression of thyroid epithelial markers and the ALK mutation suggested possible thyroid carcinoma components or malignant potential. The patient underwent left thyroid lobectomy with isthmus resection, received no adjuvant therapy, and showed no recurrence after 37 months of follow-up.This case reports the discovery of the ALK-R395H mutation in thyroid IMT, providing new insights into its molecular characteristics.
Keywords: inflammatory myofibroblastic tumor, thyroid, ALK-positive, gene mutation, case report
Received: 22 Apr 2025; Accepted: 09 Jun 2025.
Copyright: © 2025 Yang, Li, Xie and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Hongsheng Liu, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong Province, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.