Division of Hematology-Oncology, Department of Internal Medicine, Texas Tech University Health Sciences Center El Paso, El Paso, TX, U.S.A.;
Department of Pathology, Texas Tech University Health Sciences Center El Paso, El Paso, TX, U.S.A.
Anticancer Res. 2021 Jun;41(6):3029-3036. doi: 10.21873/anticanres.15085.
Malignant triton tumor (MTT) is a rare subtype of malignant peripheral nerve sheath tumor with additional rhabdomyolysis differentiation that shows rapid progression and poor clinical outcomes.
We report the case of an adult male with a metastatic MTT. Despite extensive counseling, the patient initially refused recommended treatment. Upon disease progression, the patient was admitted to our institution and multiple distant organ metastases were found. The patient underwent an above-knee amputation followed by palliative chemotherapy. The patient died a few months later due to rapid disease progression.
To our knowledge, this is the first report of a case of MTT with multiple splenic metastases. We also describe the first finding of a frame-shift mutation in the tuberous sclerosis complex 2 (TSC2) gene in a patient with MTT. Because of limited clinical experience and the lack of clinical trials, the effects of chemotherapy and radiation therapy for MTT remain controversial. However, given the aggressive nature of these tumors and the tendency for early recurrence and metastasis, prompt diagnosis and early surgical treatment are crucial for the best outcomes.
恶性蝾螈瘤（MTT）是一种罕见的恶性外周神经鞘瘤亚型，具有横纹肌溶解分化，表现为快速进展和不良的临床结局。
我们报告了一例成人男性转移性 MTT 病例。尽管进行了广泛的咨询，患者最初还是拒绝了建议的治疗。疾病进展后，患者被收入我院，发现多个远处器官转移。患者接受了膝关节以上截肢术，随后进行了姑息性化疗。几个月后，患者因疾病快速进展而死亡。
据我们所知，这是首例多发性脾转移 MTT 病例报告。我们还描述了首例 TSC2 基因突变的发现，该患者患有 MTT。由于临床经验有限且缺乏临床试验，MTT 的化疗和放疗效果仍存在争议。然而，鉴于这些肿瘤的侵袭性以及早期复发和转移的倾向，及时诊断和早期手术治疗对于获得最佳结局至关重要。
