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.
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http://dx.doi.org/10.3892/ol.2014.2282 | DOI Listing |
Diagn Cytopathol
December 2024
Department of Pathology, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Introduction: Thyroid lesions are one of the most common diseases observed in clinical practice in the North India. These diseases have distinct cytological morphology and thus FNAC is done frequently. Here we report a case of adenomatoid goitre mimicking adenoid cystic carcinoma (ACC) of salivary gland on cytology.
View Article and Find Full Text PDFBMC Neurol
December 2024
Department of Neurology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, 518036, China.
Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disease with a characteristic pathological feature of eosinophilic hyaluronan inclusions in the nervous system and internal organs. The identification of GGC-repeat expansions in the Notch 2 N-terminal like C (NOTCH2NLC) gene facilitates the accurate diagnosis of NIID. Due to its rareness and high clinical heterogeneity, the diagnosis of NIID is often delayed or missed.
View Article and Find Full Text PDFOncol Lett
February 2025
Department of Radiology, University Hospital Olomouc, Olomouc 77900, Czech Republic.
Papillary thyroid carcinoma (PTC) represents ~80% of all thyroid cancers, most frequently presenting in women in the third and fourth decade of life. The first clinical manifestation of PTC commonly includes a palpable mass in the thyroid area or cervical lymphadenopathy in cases of metastatic disease. Hematogenous distant metastases are a sign of an advanced stage of the tumour.
View Article and Find Full Text PDFDiagn Cytopathol
December 2024
Division of Pathology and Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
The presence of cystic lymph nodes in the neck can present a challenging differential diagnosis, with considerations often including metastatic papillary thyroid carcinoma (PTC), cystic squamous cell carcinoma, and congenital cysts. The cytologic overlap between benign Müllerian inclusions and PTC features adds complexity, especially in unusual locations. A 45-year-old woman with a history of ovarian serous borderline tumor (SBT) and non-invasive Müllerian implants presented with cystic lymphadenopathy in the neck.
View Article and Find Full Text PDFRadiol Imaging Cancer
January 2025
From the Department of Radiology, Johns Hopkins University School of Medicine, 1800 Orleans St, Baltimore, MD 21218-2625.
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