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CASE REPORT article

Front. Oncol.
Sec. Pediatric Oncology
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1492654
This article is part of the Research Topic Novel targets in pediatrics: advances in diagnostic and therapeutic approaches View all articles

A case report of infantile fibrosarcoma with BRAF gene mutation with incomplete intestinal obstruction

Provisionally accepted
Zhu Fan Zhu Fan *
  • Maternal and Child Health Care Hospital, Huizhou, China

The final, formatted version of the article will be published soon.

    Abstract Objective: This study aims to explore the clinical features,diagnosis, and treatment of infantile fibrosarcoma (IFS) associated with BRAF mutations, with the goal of enhancing clinicians' understanding of this rare genetic variant and its relationship to IFS. Methods: We searched the China National Knowledge Infrastructure (CNKI), Wanfang Database, VIP Database, PubMed, and NCBI using the keywords " infantile fibrosarcoma" and " congenital fibrosarcoma, " for relevant articles published before August 2024. A total of 529 articles and 498 cases were identified, of which 48 articles and 149 cases were in Chinese,and 479 articles and 349 cases were in foreign languages. Among them, 20 cases occurred in the gastrointestinal tract, with 2 cases associated with BRAF gene mutation. Combining the case reported in this paper, the clinical manifestations and treatment experience were summarized. Results: The patient was a 5-month-18-day-old male presenting with vomiting for 4 days. Preoperative abdominal ultrasonography revealed an abnormal hyper-echoic mass in the right upper abdomen. Exploratory laparotomy and complete tumor excision were performed. Pathological examination confirmed a diagnosis of IFS,with molecular analysis identifying a BRAF p.V600delinsDL mutation. Postoperative follow-up over 8 months showed no recurrence or metastasis on abdominal ultrasound. A review of this case alongside 20 reported cases of intestinal IFS revealed that intestinal perforation and obstruction were the most common presentations, with favorable overall prognoses. Conclusion: Intestinal IFS is a rare soft tissue sarcoma predominantly occurring in early infancy. Cases involving the BRAF p.V600delinsDL mutation are even rarer. Treatment should be individualized,with complete surgical resection being the cornerstone of therapy. Prognosis remains favorable following complete excision.

    Keywords: Ileum, Infantile fibrosarcoma, intestine, Clinical and pathological features, BRAF gene mutation

    Received: 07 Sep 2024; Accepted: 07 Jan 2025.

    Copyright: © 2025 Fan. 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: Zhu Fan, Maternal and Child Health Care Hospital, Huizhou, China

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