CASE REPORT article
Front. Oncol.
Sec. Cancer Genetics
This article is part of the Research TopicDeciphering molecular mechanisms behind tumor heterogeneity features by using nucleic acid-based technologiesView all 4 articles
Case Report: Diffuse Entire Gastrointestinal Tract Involvement of ALK-Positive Anaplastic Large Cell Lymphoma Harboring JAK-STAT Pathway Mutations in an Adolescent with Leukemoid Reaction
Provisionally accepted
- West China Hospital, Sichuan University, Chengdu, 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
Anaplastic lymphoma kinase-positive anaplastic large cell lymphoma (ALK+ ALCL) is an aggressive mature T-cell non-Hodgkin lymphoma. Its typical characteristics include positive CD30 and ALK expression detected by immunohistochemistry, and it is often accompanied by ALK gene translocation, among which the chromosomal translocation t (2;5) is the most common. This disease predominantly affects young individuals, with extranodal involvement being relatively common. However, cases involving the digestive tract are relatively rare. We report a rare case of a 14-year-old female with ALK+ALCL presenting with fever and peripheral blood leukocytosis as initial manifestations and complicated by diffuse involvement of the entire gastrointestinal tract. The patient showed significant remission having completed 4 chemotherapy sessions. In further studies, RNA sequencing confirmed the presence of NPM1::ALK gene fusion in this case; whole-exome sequencing (WES) detected somatic mutations in multiple genes of the JAK-STAT pathway (including JAK1, PTPN6, MTOR, and TYK2). It is noteworthy that such genetic alterations are more commonly observed in ALK-negative anaplastic large cell lymphoma (ALK-ALCL) but are less commonly reported in ALK+ALCL .
Keywords: Adolescent, Anaplastic Lymphoma Kinase Positive Anaplastic Large Cell Lymphoma, Gastrointestinal Tract, JAK-STAT pathway, Leukemoid Reaction
Received: 01 Oct 2025; Accepted: 17 Dec 2025.
Copyright: © 2025 Yang, Dai, Li, Zhao, Deng, Chen, Zhang, Wang and Zhang. 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:
Yufang Wang
Wenyan Zhang
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.