Kukwa Wojciech, Korzeń Piotr, Wojtowicz Piotr, Sobczyk Grzegorz, Kiprian Dorota, Kawecki Andrzej, Kukwa Andrzej, Krzeski Antoni, Szczylik Cezary, Czarnecka Anna M
Department of Otolaryngology, Czerniakowski Hospital, Medical University of Warsaw, Warsaw 00-739, Poland.
Department of Oncology, Military Institute of Medicine, Warsaw 04-141, Poland.
Oncol Lett. 2014 Sep;8(3):1312-1316. doi: 10.3892/ol.2014.2282. Epub 2014 Jun 25.
At present, only eight cases of tracheal adenoid cystic carcinomas (ACCs) mimicking thyroid tumors have been reported. Since there are no guidelines available regarding their diagnosis and treatment, they present a significant clinical challenge. In the present study, patient treatment was analyzed to deliver the first concise summary of treatment options in patients with ACC mimicking a thyroid tumor. In addition, all available data regarding molecular abnormalities of this disease have been discussed. The current study presents a case of a 17-year-old patient with a tracheal ACC mimicking a thyroid tumor. The patient was diagnosed in 2007 with a pathological mass between the left lobe of the thyroid and the trachea, and underwent surgery and radiotherapy. In 2010, multiple lesions in the lungs were diagnosed and pulmonary metastasectomy was performed. Following surgery, the patient has been disease-free for almost 30 months. Thyroid tumor biopsy may reveal ACCs. This pathological report requires further investigation of the head and neck in order to confirm if the disease is of tracheal origin. Patients may present with a neck swelling, hoarseness of voice or dysphagia. Surgery must be considered as first-line therapy for all patients with local disease as it may be curative. For palliative treatment chemoradiotherapy based on cisplatin may be effective. The identification of cytogenetics, tumor suppressor genes, oncogenes, epigenetic alterations and mitochondrial abnormalities specific for ACCs is critical to the development of targeted therapies. Thus far, large studies have only reported the transcriptional activator Myb and mammalian target of rapamycin signaling pathway to be disrupted in ACCs.
目前,仅有8例模仿甲状腺肿瘤的气管腺样囊性癌(ACC)的病例报告。由于尚无关于其诊断和治疗的指南,它们带来了重大的临床挑战。在本研究中,对患者的治疗进行了分析,以首次简要总结模仿甲状腺肿瘤的ACC患者的治疗选择。此外,还讨论了关于该疾病分子异常的所有现有数据。本研究报告了1例17岁模仿甲状腺肿瘤的气管ACC患者。该患者于2007年被诊断出甲状腺左叶与气管之间有一个病理性肿块,并接受了手术和放疗。2010年,诊断出肺部有多处病变,并进行了肺转移瘤切除术。手术后,该患者已无病生存近30个月。甲状腺肿瘤活检可能会发现ACC。这份病理报告需要对头颈部进行进一步检查,以确认疾病是否起源于气管。患者可能会出现颈部肿胀、声音嘶哑或吞咽困难。对于所有局部病变的患者,手术必须被视为一线治疗方法,因为它可能具有治愈性。对于姑息治疗,基于顺铂的放化疗可能有效。识别ACC特有的细胞遗传学、肿瘤抑制基因、癌基因、表观遗传学改变和线粒体异常对于靶向治疗的发展至关重要。到目前为止,大型研究仅报道转录激活因子Myb和雷帕霉素哺乳动物靶标信号通路在ACC中被破坏。