CASE REPORT article
Front. Oncol.
Sec. Surgical Oncology
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1529765
Case Report: Concurrent Neurofibromatosis Type 1 with Papillary Thyroid Carcinoma and Gastrointestinal Stromal Tumor
Provisionally accepted
- 1Medical Research Club, Faculty of Medicine, Al-Quds University, Jerusalem, Palestine., Jerusalem, Palestine
- 2Department of Radiology, Al-Ahli Hospital, West Bank, Palestine, West bank, Palestine
- 3Department of Thoracic Surgery, Al-Ahli Hospital, Hebron, Palestine., Hebron, Palestine
- 4Faculty of Medicine, Al-Quds University, Jerusalem, Palestine., Jerusalem, Palestine
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Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by benign tumors such as neurofibromas and café-au-lait spots, with affected individuals at increased risk for malignant tumors, including gastrointestinal stromal tumors (GIST) and, rarely, papillary thyroid carcinoma (PTC).This case report presents a 30-year-old Palestinian woman with NF1 who experienced severe abdominal pain and melena, leading to the diagnosis of a jejunal GIST, which was surgically removed. Postoperative imaging revealed cervical and thoracic lesions.A follow-up PET scan indicated hypermetabolic masses in the thyroid and chest. Subsequent surgery confirmed the diagnosis of PTC and neurofibromas, with whole exome sequencing identifying a likely pathogenic variant in the NF1 gene. This case demonstrates the value of comprehensive evaluation and genetic counseling for NF1 patients due to the risk of multiple tumors, which points to careful monitoring for early detection and management. To our knowledge, this instance is the first reported case of concurrent GIST and PTC in a patient with NF1.
Keywords: neurofibromatosis type 1, Papillary thyroid carcinoma, Gastrointestinal Stromal Tumor, Genetic Counseling, case report
Received: 17 Jan 2025; Accepted: 23 Jun 2025.
Copyright: © 2025 Dweik, Faroun, Yacoub, Smerat and Abu Asbeh. 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: Yousef Abu Asbeh, Department of Thoracic Surgery, Al-Ahli Hospital, Hebron, Palestine., Hebron, Palestine
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