Dumarey Alexander, Bertels Cleo, Reekmans Ann, Sciot Raf, Bempt Isabelle Vanden, Van Der Kelen Vicky, Smets Lena, Korf Hannelie, van der Merwe Schalk
Laboratory of Liver Immunology, Leuven Center of Molecular Liver Sciences, Department of Chronic Diseases and Metabolism (CHROMETA), Hepatology Research Unit, KU Leuven, Herestraat 49, Post Office Box 703, 3000, Leuven, Belgium.
Department of Internal Medicine, UZ Brussel, Laarbeeklaan 101, Jette, 1090, Brussels, Belgium.
Clin J Gastroenterol. 2025 Aug 9. doi: 10.1007/s12328-025-02197-w.
Malignant triton tumor (MTT) is a rare subset (5%) of malignant peripheral nerve sheath tumors (MPNSTs), classified as soft-tissue sarcomas. MTT is an orphan disease characterized by rhabdomyoblastic differentiation, therapeutic resistance, and a sinister prognosis. The neoplasms classically arise at the trunk, head and neck region, and extremities. In 50% of the cases, MTT is associated with neurofibromatosis type 1 (NF1), a relatively common autosomal dominant cancer-prone disorder of the central nervous system. Few cases of MTT in the gastrointestinal tract have been published, including esophagus, duodenum, and rectum. In this article, we present what we believe to be the first report of MTT in the common bile duct. A multidisciplinary approach was the key in establishing this particular diagnosis, and workup included endoscopic ultrasound, endoscopic retrograde cholangiopancreatography, pathological staining, and genetic testing. Literature focusing on MTT remains scarce, and patients with MTT are often included with other subtypes in broader studies of MPNST. Therefore, our literature review covers MPNST and focusses on MTT where appropriate. It provides the current understanding of tumor epidemiology, genetics, and diagnostic workup, and discusses therapeutic challenges and future perspectives. Our case report underlines the value of cholangioscopy-guided biopsies, and honoring patient's autonomy in end-of-life setting.
恶性蝾螈瘤(MTT)是恶性外周神经鞘瘤(MPNST)的一种罕见亚型(5%),归类为软组织肉瘤。MTT是一种罕见病,其特征为横纹肌母细胞分化、治疗抵抗及预后不良。肿瘤通常发生于躯干、头颈部及四肢。50%的病例中,MTT与1型神经纤维瘤病(NF1)相关,NF1是一种相对常见的常染色体显性遗传性中枢神经系统易患癌疾病。胃肠道MTT的病例报道较少,包括食管、十二指肠和直肠。在本文中,我们报告了我们认为的首例胆总管MTT。多学科方法是确立这一特殊诊断的关键,检查包括内镜超声、内镜逆行胰胆管造影、病理染色及基因检测。关于MTT的文献仍然稀少,在更广泛的MPNST研究中,MTT患者常与其他亚型一起纳入研究。因此,我们的文献综述涵盖MPNST,并在适当情况下聚焦于MTT。它提供了对肿瘤流行病学、遗传学及诊断检查的当前认识,并讨论了治疗挑战和未来展望。我们的病例报告强调了胆管镜引导下活检的价值,以及在临终环境中尊重患者自主权的重要性。