Although perhaps slightly more aggressive, MASC clinical outcome mimics that of AciCC.
To determine the influence of the newly described mammary analog secretory carcinoma (MASC) with ETV6 translocation on our understanding of salivary acinic cell carcinoma (AciCC), we reviewed 81 cases of AciCC: 64 "classic" AciCCs, 11 AciCCs with high-grade transformation (HGT), and 17 zymogen granule poor AciCCs. ETV6 fluorescence in situ hybridization revealed that classic AciCC (7 of 7 tested) and AciCC-HGT (4 of 4 tested) have intact ETV6. However, 10 of 17 zymogen granule poor AciCCs showed ETV6 translocation and were reclassified as MASC; the diagnosis of AciCC was retained for cases with intact ETV6. MASCs were distinguished by the lack of zymogen granules, mucin production, and stronger S100 reactivity. MASC showed a striking male predilection (male-to-female ratio, 8:2) in contrast to AciCC (male-to-female ratio, 1:1.5; P<0.01). Compared with cases of confirmed AciCC, AciCC-HGT occurred in older patients (mean age of 66.2 y vs. 47.7 y, P=0.007) and showed a poorer mean overall survival [40.2 mo (95% confidence interval (CI), 7.5-73 mo) vs. 125 mo (95% CI: 98-151 mo); P<0.001]. Patients with confirmed AciCC without HGT showed a recurrence rate of 15% (9/60) and a 7.9% (3/38) incidence of regional lymph node involvement. It appears that more than half of zymogen granule poor AciCCs are likely to represent MASC. Even after excluding cases of MASC, the presence of HGT in AciCC predicts poorer overall survival.
Objective Neck masses are common in adults, but often the underlying etiology is not easily identifiable. While infections cause most of the neck masses in children, most persistent neck masses in adults are neoplasms. Malignant neoplasms far exceed any other etiology of adult neck mass. Importantly, an asymptomatic neck mass may be the initial or only clinically apparent manifestation of head and neck cancer, such as squamous cell carcinoma (HNSCC), lymphoma, thyroid, or salivary gland cancer. Evidence suggests that a neck mass in the adult patient should be considered malignant until proven otherwise. Timely diagnosis of a neck mass due to metastatic HNSCC is paramount because delayed diagnosis directly affects tumor stage and worsens prognosis. Unfortunately, despite substantial advances in testing modalities over the last few decades, diagnostic delays are common. Currently, there is only 1 evidence-based clinical practice guideline to assist clinicians in evaluating an adult with a neck mass. Additionally, much of the available information is fragmented, disorganized, or focused on specific etiologies. In addition, although there is literature related to the diagnostic accuracy of individual tests, there is little guidance about rational sequencing of tests in the course of clinical care. This guideline strives to bring a coherent, evidence-based, multidisciplinary perspective to the evaluation of the neck mass with the intention to facilitate prompt diagnosis and enhance patient outcomes. Purpose The primary purpose of this guideline is to promote the efficient, effective, and accurate diagnostic workup of neck masses to ensure that adults with potentially malignant disease receive prompt diagnosis and intervention to optimize outcomes. Specific goals include reducing delays in diagnosis of HNSCC; promoting appropriate testing, including imaging, pathologic evaluation, and empiric medical therapies; reducing inappropriate testing; and promoting appropriate physical examination when cancer is suspected. The target patient for this guideline is anyone ≥18 years old with a neck mass. The target clinician for this guideline is anyone who may be the first clinician whom a patient with a neck mass encounters. This includes clinicians in primary care, dentistry, and emergency medicine, as well as pathologists and radiologists who have a role in diagnosing neck masses. This guideline does not apply to children. This guideline addresses the initial broad differential diagnosis of a neck mass in an adult. However, the intention is only to assist the clinician with a basic understanding of the broad array of possible entities. The intention is not to direct management of a neck mass known to originate from thyroid, salivary gland, mandibular, or dental pathology as management recommendations for these etiologies already exist. This guideline also does not address the subsequent management of specific pathologic entities, as treatment recommendations for benign and malignant neck masses can be found elsewhere. Instead,...
BACKGROUND: Mammary analogue secretory carcinoma (MASC) of the salivary glands is a newly described tumor entity associated with the t(12;15)(p13;q25) ETV6-NTRK3 translocation. Early studies have shown this tumor to be a distinct entity with histologic, biologic, and clinical differences from acinic cell carcinoma and adenocarcinoma, not otherwise specified. Because this tumor was described only recently, it remains relatively unknown outside of head and neck specialty pathology centers. METHODS: In the current study, 6 cases of fine-needle aspiration cytology from histologically and/or molecularly confirmed cases of MASC are presented. RESULTS: Using cytomorphology, MASC primarily raises the differential diagnosis of an oncocytic salivary gland tumor but there are some features that can suggest the specific diagnosis of MASC. The 6 cases presented in the current study all demonstrated at least focal cytoplasmic vacuolization and papillary formations on smears. MASC can be differentiated from acinic cell carcinoma by a lack of periodic acid-Schiff diastase-positive zymogen granules and S-100 protein positivity. CONCLUSIONS: The results of the current study the ability of ETV6 break-apart fluorescence in situ hybridization to detect gene rearrangement on cell block material. This is the first report of a case of MASC prospectively diagnosed on a cytology specimen. Cancer (Cancer Cytopathol) 2013;121:234-41.
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