CASE REPORT article
Front. Oncol.
Sec. Cancer Genetics
An Uncommon Germline Variant of Familial GIST Tumors: Broadening the Landscape of Inherited GIST Syndromes
Provisionally accepted
- Greenville Memorial Hospital, Greenville, United States
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Familial Gastrointestinal Stromal tumors (GIST) are rare neoplasms but GIST tumors are some of the most common soft tissue sarcoma subtypes. The incidence is between 10 to 15 cases per million worldwide and approximately 500 cases in the USA [1]. GIST is often diagnosed based on clinical presentation, the tumor's anatomic location and immunohistochemistry (IHC) pattern [1]. Patients with familial GIST develop GIST tumors that are numerous, smaller in size, and occur in the background of intestinal cells of Cajal hyperplasia [2]. The first family with features of inherited GIST was reported in the 1990s which was the first time Exon 11 KIT variant was reported [3]. We present two cases of family members affected with multifocal GIST tumors who underwent germline genetic analysis and were found to have germline pathogenic variants in Exon 11 of the KIT gene [c.1735_1737del (p.Asp579del)]. Both patients were treated with Imatinib with good response.
Keywords: Familial GIST, Genetic Testing, GI cancer, GIST, KIT activating mutations
Received: 15 Jul 2025; Accepted: 15 Jan 2026.
Copyright: © 2026 Ganesan, Vogel, Knight, Rosenzweig and Michels. 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: Pallavi Roshini Ganesan
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