RESUMEN
INTRODUCTION: The diagnosis of salivary gland secretory carcinoma (SC) in fine-needle aspiration specimens is challenging because its low-grade nature makes it difficult to differentiate it from various benign or malignant salivary gland neoplasms. Currently, the gold standard is demonstration of ETV6-NTRK3 fusion gene. However, the decision for ordering this costly molecular testing can be facilitated by the correct recognition of its cytomorphological features. The aim of the review was to determine the accuracy of fine-needle aspiration cytology (FNAC) in diagnosis of salivary gland SC. The secondary objective was to recognize varied cytomorphological patterns, characteristic features of SC and differentiate it from other neoplasms. METHODS: PubMed/MEDLINE, Science Direct, Embase, Cochrane review, and PROSPERO databases were searched for studies having the following key search terms: ("secretory carcinoma of salivary gland" OR "mammary analogue secretory carcinoma of salivary gland") AND ("Cytology" OR "Cytological features" OR "aspirate" OR "cytodiagnosis") published in the time frame of 2010 to June 2023. Studies reporting cytological features of the salivary gland tumors which were confirmed/diagnosed as SC on molecular investigation, were included in the systematic review. Finally, seventeen studies reporting a total of 45 cases were included in the metanalysis. RESULTS: The sensitivity of the FNAC in diagnosing SC in salivary gland is 27.7% (95% CI: 16.6-42.5%). The LR+ (positive likelihood ratio) was 0.654 (0.344-1.245), LR- (negative likelihood ratio) was 1.023 (0.538-1.946), and diagnostic odds ratio was 0.421 (0.129-1.374). The molecular testing and/or immunohistochemistry performed on cell block increased the diagnostic accuracy. CONCLUSION: Recognition of subtle cytomorphological patterns, i.e., papillary formation, clusters, and singly dispersed cells along with presence of fine intracytoplasmic vacuolations were the characteristic findings in majority of cases, confirmed with diagnostic molecular profiling. This may be helpful in identification of this rare entity with limited published literature and help in increasing diagnostic accuracy.
Asunto(s)
Neoplasias de las Glándulas Salivales , Humanos , Biopsia con Aguja Fina/métodos , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/genética , Femenino , Valor Predictivo de las Pruebas , Glándulas Salivales/patología , Adulto , Masculino , Reproducibilidad de los Resultados , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/análisis , Persona de Mediana Edad , Carcinoma/patología , Carcinoma/diagnóstico , Carcinoma/genética , Carcinoma Secretor Análogo al Mamario/patología , Carcinoma Secretor Análogo al Mamario/diagnóstico , Carcinoma Secretor Análogo al Mamario/genética , Proteínas de Fusión Oncogénica/genética , Adulto Joven , Adolescente , Citodiagnóstico/métodos , Anciano , Diagnóstico Diferencial , Niño , Citología , Proteína ETS de Variante de Translocación 6 , Receptor trkCAsunto(s)
Carcinoma Secretor Análogo al Mamario , Neoplasias de la Parótida , Neoplasias de las Glándulas Salivales , Humanos , Glándula Parótida/patología , Carcinoma Secretor Análogo al Mamario/patología , Neoplasias de la Parótida/patología , Neoplasias de las Glándulas Salivales/patología , Proteínas de Fusión OncogénicaRESUMEN
Background: Mammary analogue secretory carcinoma (MASC) is characterized by similar histologic, immunohistochemical, and molecular features with breast secretory carcinoma. MASC usually occurs in adults. Case report: A 4-year-old boy presented with a right infra-auricular mass. Features of the tumor include solid, tubular, and papillary growth patterns, with homogenous eosinophilic secretions inside microcystic structures. Immunohistochemical stains showed strong, diffuse staining for CK7, S100, pan-TRK protein. P63 was positive in a peripheral pattern. Fluorescence in situ hybridization (FISH) analysis showed the characteristic ETV6-NTRK3 gene fusion. Conclusion: Typical histological, immunohistochemical, and molecular features are present in MASC occurring early in childhood.
Asunto(s)
Carcinoma Secretor Análogo al Mamario , Neoplasias de las Glándulas Salivales , Humanos , Carcinoma Secretor Análogo al Mamario/diagnóstico , Carcinoma Secretor Análogo al Mamario/genética , Carcinoma Secretor Análogo al Mamario/patología , Glándula Parótida/química , Glándula Parótida/metabolismo , Glándula Parótida/patología , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/metabolismo , Neoplasias de las Glándulas Salivales/patología , Hibridación Fluorescente in Situ , Inmunohistoquímica , Proteínas de Fusión Oncogénica/genética , Biomarcadores de Tumor/metabolismoRESUMEN
Secretory carcinoma (SC) is a recently recognized type of salivary gland tumor characterized by t(12;15) (p13;q25) translocation resulting in an ETV6-NTRK3 gene fusion. Most SCs are located in a main salivary gland, and primary sinonasal secretary carcinoma is rare. We describe three cases of primary SC in the sinonasal cavity with high-grade transformation (HGT) in one case, and the first case in the pharynx. All tumors comprised slightly atypical cells with solid, tubular, microcystic growth patterns. The case with HGT included two components with distinct sharp boundaries and comedo necrosis, high mitotic figures and obvious cellular atypia. Tumor cells were positive for vimentin, S100, and Gata-3 and negative for p63 and DOG-1. Three cases showed nuclear staining of pan-TRK and one showed cytoplasmic staining. All cases harbored ETV6 gene rearrangement, and ETV6-NTRK3 gene fusion was detected in three cases. Most patients were treated with radical resection and adjuvant therapy. After excision, all remained tumor-free for 65-164 months (medium 98.5 months). SC in the sinonasal cavity and pharynx is a low-grade malignant tumor with histologic features overlapping those of other salivary gland tumors. Immunohistochemical analysis and fluorescence in situ hybridization are useful techniques for its differential diagnosis.
Asunto(s)
Carcinoma , Carcinoma Secretor Análogo al Mamario , Neoplasias de las Glándulas Salivales , Humanos , Hibridación Fluorescente in Situ , Estudios Retrospectivos , Inmunohistoquímica , Faringe/química , Faringe/patología , Proteínas de Fusión Oncogénica/genética , Carcinoma/diagnóstico , Carcinoma/genética , Carcinoma/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patología , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/análisis , Carcinoma Secretor Análogo al Mamario/patologíaRESUMEN
Mammary Analogue Secretory Carcinoma (MASC) is a rare pathology of the salivary gland, most commonly involving the parotid gland. The objective of this study was to identify the characteristic features of MASC and its treatment outcomes. A retrospective review of 12 patients with histological diagnosis of MASC, who were managed between 2010 to 2019, was carried out at the Shaukat Khanum Memorial Cancer Hospital & Research Centre, Lahore. Their mean age was 34±16 years. There were 9 (75%) male and 3 (25%) female patients. Painless slow growing swelling was the most common presenting symptom. All the patients had undergone surgical excision with or without neck dissection, followed by adjuvant treatment. Of these, six patients had T2 tumours, while four had cervical lymph node metastasis. The mean follow-up period was 23±21 months. Local recurrence was seen in one patient. MASC is considered a low-grade tumour with good prognosis which can be treated with curative intent of surgery followed by radiotherapy effectively.
Asunto(s)
Carcinoma Secretor Análogo al Mamario , Neoplasias de las Glándulas Salivales , Adolescente , Adulto , Femenino , Humanos , Metástasis Linfática , Masculino , Carcinoma Secretor Análogo al Mamario/patología , Persona de Mediana Edad , Pakistán , Glándula Parótida/patología , Neoplasias de las Glándulas Salivales/patología , Adulto JovenAsunto(s)
Carcinoma Secretor Análogo al Mamario , Neoplasias de las Glándulas Salivales , Biomarcadores de Tumor , Hematoma/diagnóstico , Hematoma/etiología , Humanos , Carcinoma Secretor Análogo al Mamario/patología , Proteínas de Fusión Oncogénica , Hueso Paladar/patología , Neoplasias de las Glándulas Salivales/patologíaRESUMEN
OBJECTIVE: The present study aimed to characterize and differentiate the ultrasonography (US) and computed tomography (CT) features of mammary analogue secretory carcinoma (MASC) and acinic cell carcinoma (AciCC). METHODS AND PATIENTS: A total of 83 patients with clinically proven MASC and AciCC were analyzed. The following characteristics were assessed on US, CT, and magnetic resonance imaging: lesion size, shape, margin, echogenicity, echotexture, cystic components, posterior echo, vascularity, density, degree of enhancement, enhancement pattern, signal intensity (SI) on T1- and T2-weighted images (WI), hemorrhages, and lymph node enlargement. RESULTS: Similarities were observed between the imaging performance of MASC and AciCC. Differences between the two characteristics of shape on US and cystic components on CT were statistically significant. The proportion of MASC to regular shape on US (p = 0.006) and cystic components on CT (p = 0.027) was significantly higher than that of AciCC. Regular shape on US had the highest sensitivity in the identification of MASC and AciCC, while regular shape on US + cystic component on CT had the highest specificity. CONCLUSIONS: The shape on US and cystic components on CT are key characteristics for distinguishing MASC and AciCC.
Asunto(s)
Carcinoma de Células Acinares , Carcinoma Secretor Análogo al Mamario , Neoplasias de las Glándulas Salivales , Biomarcadores de Tumor , Carcinoma de Células Acinares/diagnóstico por imagen , Carcinoma de Células Acinares/patología , Diagnóstico Diferencial , Humanos , Carcinoma Secretor Análogo al Mamario/diagnóstico por imagen , Carcinoma Secretor Análogo al Mamario/patología , Neoplasias de las Glándulas Salivales/patología , Glándulas Salivales/patología , Tomografía Computarizada por Rayos XRESUMEN
Mammary analogue secretory carcinomas (MASCs) of the parotid gland are considered as low-grade malignancies with good clinical outcome but lacking data regarding prognostic factors. We performed meta-analysis assessing prognostic factors for disease-free survival (DFS) and overall survival (OS) in 256 patients with MASCs of the parotid gland. A total of 73 studies have met the inclusion criteria and 76.3% of patients were seen with T1 and T2 tumors and negative neck nodes. Lymph node metastasis (57.4%) and distant recurrences (46.2%) were particularly found in T4 tumors (p < 0.001). DFS at 5 and 10 years was 77.9% and 47.2% compared to 88.1% and 77.2% for OS at the same time points. Male sex, T3-T4 tumors, and recurrent disease represented independent worse prognosticators for survival outcome. Altogether, parotid gland MASCs show good long-term outcome, but T4 tumors behave significantly more aggressive and require extended treatment strategies along with close follow-ups.
Asunto(s)
Carcinoma Secretor Análogo al Mamario , Neoplasias de la Parótida , Humanos , Masculino , Carcinoma Secretor Análogo al Mamario/patología , Estadificación de Neoplasias , Glándula Parótida/patología , Glándula Parótida/cirugía , Neoplasias de la Parótida/patología , Pronóstico , Estudios RetrospectivosRESUMEN
Mammary Analogue Secretory Carcinoma (MASC) is a recently described salivary gland tumor frequently sampled via fine-needle aspiration. The cytologic features of MASC are not entirely distinctive and can simulate acinic cell carcinoma, but the tumor harbors an ETV6 gene rearrangement resulting in an ETV6-NTRK3 fusion gene. We present a case of MASC arising in a 31 year old man with a history of multiple radio-embolization procedures.
Asunto(s)
Carcinoma Secretor Análogo al Mamario , Exposición a la Radiación , Neoplasias de las Glándulas Salivales , Adulto , Biomarcadores de Tumor/genética , Humanos , Masculino , Carcinoma Secretor Análogo al Mamario/genética , Carcinoma Secretor Análogo al Mamario/patología , Proteínas de Fusión Oncogénica/genética , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patologíaRESUMEN
Secretory carcinoma (SC), previously known as mammary analogue secretory carcinoma, is a rare salivary gland neoplasm that typically presents as a slow-growing painless lesion in the head and neck. SC occurs mainly in adults but has been described in children with the youngest reported patient diagnosed at five years of age. In children the gender distribution has been reported as female to male ratio of 1:1.2. SC is generally considered a low-grade malignancy with characteristic morphological features and immunological profile. SC also harbors ETV6-NTRK3 fusion (t(12;15)(p13:q25)). Surgical resection with or without lymph node dissection is the standard treatment, with generally favorable clinical outcomes. Here we present a single institution case series of six patients (ages 9-21) with SC and a review of the previously described pediatric cases. Our small series showed male predominance in pediatric patients with predominantly low-grade and stage tumors. All cases underwent complete surgical resections and when follow up is available there was no evidence of recurrences or metastases. To the best of our knowledge, this is the only SC case series comprised exclusively of pediatric and youth patients.
Asunto(s)
Carcinoma , Carcinoma Secretor Análogo al Mamario , Neoplasias de las Glándulas Salivales , Adolescente , Biomarcadores de Tumor/genética , Neoplasias de la Mama , Carcinoma/patología , Niño , Femenino , Humanos , Masculino , Carcinoma Secretor Análogo al Mamario/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/cirugía , Adulto JovenRESUMEN
Originally described as mammary analog secretory carcinoma (SC), SC of the salivary gland is a rare malignancy with morphologic and molecular similarities to SC of the breast. We present 2 children with salivary gland SC with the classic ETV6-NTRK3 gene fusion, including 1 with lymph node metastases. Both patients underwent surgical resection and were in remission 24 months postsurgery. One patient was additionally found to have synchronous papillary thyroid carcinoma with a TFG-MET fusion. A review of published cases highlights the expanding molecular profile and confirms the favorable course of salivary gland SC after surgical resection.
Asunto(s)
Carcinoma , Carcinoma Secretor Análogo al Mamario , Neoplasias de las Glándulas Salivales , Neoplasias de la Tiroides , Biomarcadores de Tumor/genética , Neoplasias de la Mama , Carcinoma/genética , Niño , Humanos , Carcinoma Secretor Análogo al Mamario/genética , Carcinoma Secretor Análogo al Mamario/patología , Carcinoma Secretor Análogo al Mamario/terapia , Proteínas de Fusión Oncogénica/genética , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patología , Glándulas Salivales/patología , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/cirugíaRESUMEN
Mammary analogue secretory carcinoma (MASC) of the salivary gland is a rare tumor that was first described by Skalova et al in 2010, and since then, only a few hundred cases have been reported in the literature. Prior to Skalova's report, MASC was histologically misclassified as acinic cell carcinoma (ACC), pleomorphic adenoma, mucoepidermoid carcinoma, or adenocarcinoma, not otherwise specified. Mammary analogue secretory carcinoma has a low incidence rate overall, accounting for less than 0.3% of all salivary gland tumors. Histopathologic and cytogenic analysis of MASC is identical to secretory carcinoma of the breast, leading to the proposed name by Skalova. The purpose of this case presentation is to describe an atypical presentation of MASC, to compare this case with the classic description of MASC, and to contrast the various features of MASC to ACC in order to improve the accuracy of future diagnoses and help guide treatment.
Asunto(s)
Carcinoma de Células Acinares , Carcinoma Mucoepidermoide , Carcinoma Secretor Análogo al Mamario , Neoplasias de las Glándulas Salivales , Carcinoma Mucoepidermoide/patología , Humanos , Labio , Masculino , Carcinoma Secretor Análogo al Mamario/diagnóstico , Carcinoma Secretor Análogo al Mamario/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/patología , Adulto JovenRESUMEN
Mammary analog secretory carcinoma (MASC) of salivary gland is a recently described entity. Due to its rarity and cytomorphological overlap with other salivary gland tumors, it is often difficult to recognize on cytology. Here we describe three such cases with their histopathological correlation. All the three tumors arose in the parotid gland. They were misdiagnosed as mucoepidermoid carcinoma, acinic cell carcinoma and salivary duct adenocarcinoma, respectively. Final diagnosis of MASC was established on their follow-up histopathology and immunochemistry evaluation. Cytosmears of these tumors showed high cellularity with papillary architecture lying within fluid background rich in foamy macrophages. Nuclear atypia varied from minimal to marked with frequent mitosis and presence of necrosis. Cytoplasmic vacuolation was a consistent finding. Although the cytomorphological features of MASC are not specific, a diagnosis of MASC should be strongly considered in the presence of papillary architecture, prominent cytoplasmic vacuolations of the tumor cells and a background of cyst fluid. Immunohistochemistry on cell block may be done to confirm the diagnosis.
Asunto(s)
Carcinoma Secretor Análogo al Mamario/patología , Glándula Parótida/patología , Neoplasias de la Parótida/patología , Adolescente , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Carcinoma Secretor Análogo al Mamario/diagnóstico , Glándula Parótida/citología , Neoplasias de la Parótida/diagnósticoRESUMEN
Secretory carcinoma (SC) is an uncommon salivary gland neoplasm of the oral cavity that microscopically may mimic acinic cell carcinoma (ACC) and mucoepidermoid carcinoma (MEC). This study describes a series of SC in minor glands with a literature review. We performed a retrospective search for oral SC, within the archives of the University of Florida, Oral Pathology and Surgical Pathology Biopsy services from 2010 to 2018. A total of 10 SCs were identified in the oral and maxillofacial region, four of which were in the minor salivary glands. The demographic, clinical, histological, and molecular findings were aggregated for all 4 cases. Patient age varied from 30 to 60 years, with an average of 45 years. Two cases each were in female and male patients. Two cases presented on the labial mucosa, and one each on the hard and soft palate. Immunohistochemical (IHC) staining showed mammaglobin positivity in all cases, GATA3 positivity in two cases, S100 positivity in three cases, and SOX10 positivity in only one case. Fluorescence in situ hybridization demonstrated positivity for ETV6-NTRK3 fusion in 4 cases. Although oral SC is rare, pathologists should be aware of the histologic overlap between the SC and other salivary gland neoplasms such as ACC and MEC. A judicious application of IHC staining would aid in diagnosis. SC should be considered in the differential diagnosis for intraoral salivary gland tumors.
Asunto(s)
Carcinoma Secretor Análogo al Mamario/patología , Neoplasias de las Glándulas Salivales/patología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
Secretory carcinoma of the salivary glands is a relatively new disease concept, and is characterized by "morphological resemblance to mammary secretory carcinoma and ETV6-NTRK3 gene fusion." Herein we describe a confusing case and briefly discuss practical diagnostic problems. The patient was a 71-year-old Japanese man who had a tumor consistent with secretory carcinoma at the microscopic and immunohistochemical levels. Immunohistochemically, EMA and S100 protein were noted to be positive along with various cytokeratins as well as mammaglobin and pSTAT5. Moreover, vimentin was focally positive. Smooth muscle actin, p63, p40, and androgen receptor were negative. However, a search using fluorescence in situ hybridization did not reveal a definite split signal for the ETV6 gene. It is presumed that confirming the diagnosis of secretory carcinoma without genetic retrieval will be accepted as a diagnostic method, and we hope that worldwide general recognition may earlier reach "gradual acceptance."
Asunto(s)
Biomarcadores de Tumor/análisis , Carcinoma Secretor Análogo al Mamario/diagnóstico , Neoplasias de la Parótida/diagnóstico , Proteínas Proto-Oncogénicas c-ets/análisis , Proteínas Represoras/análisis , Anciano , Regulación Neoplásica de la Expresión Génica , Humanos , Inmunohistoquímica , Queratinas/análisis , Queratinas/genética , Masculino , Carcinoma Secretor Análogo al Mamario/metabolismo , Carcinoma Secretor Análogo al Mamario/patología , Neoplasias de la Parótida/metabolismo , Neoplasias de la Parótida/patología , Proteínas S100/análisis , Proteínas S100/genética , Factor de Transcripción STAT5/análisis , Factor de Transcripción STAT5/genética , Proteína ETS de Variante de Translocación 6RESUMEN
Salivary gland secretory carcinoma (SSC) is a neoplasm with characteristic histologic features, similar to those of secretory carcinoma of the breast. Only a few pediatric SSC cases have been reported, all with ETV6-NTRK3 fusion. We present four new pediatric SSC examples, one with a novel ETV6-RET fusion. Four cases of SSC were diagnosed between 2010 and 2020: 2 boys, 7 and 9 year-old with parotid tumors (1.5 and 1.3 cm, respectively); and two 14 year-old girls: one with a submandibular tumor (2.1 cm), and one with a parotid lesion (1.2 cm). Histologically, all tumors were similar: well-circumscribed lesions composed by mid-size, monotonous cells with eosinophilic and sometimes vacuolated cytoplasm. The nuclei are oval to round with open chromatin and a single nucleolus. There are duct-like structures and microcysts with colloid-like material. Immunohistochemically, tumor cells are positive for S100, CK7, mammaglobin and GATA3. A classic ETV6-NTRK3 translocation was confirmed in the three parotid tumors; an ETV6-RET fusion was demonstrated in the submandibular lesion. All patients underwent complete surgical resection and are alive without tumor recurrence after a follow-up time ranging from one to 4 years. Pediatric SSC is extremely rare but their characteristic morphology and immunohphenotype facilitate their diagnosis. We describe the first pediatric case with the recently reported ETV6-RET fusion. Similar to adult cases, this tumor is morphologically undistinguishable from those carrying the classic ETV6-NTRK3 translocation. Thus, in pediatric cases with morphology suggestive of SSC and negative ETV6-NTRK3 by RT-PCR, other possible fusions should be investigated.
Asunto(s)
Carcinoma Secretor Análogo al Mamario/genética , Carcinoma Secretor Análogo al Mamario/patología , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patología , Adolescente , Niño , Femenino , Humanos , Masculino , Proteínas de Fusión Oncogénica/genética , Embarazo , Proteínas Proto-Oncogénicas c-ets/genética , Proteínas Proto-Oncogénicas c-ret/genética , Proteínas Represoras/genética , Proteína ETS de Variante de Translocación 6RESUMEN
AIMS: Secretory carcinoma (SC) (synonym: mammary analogue secretory carcinoma) is a low-grade salivary gland tumour that occurs in both major and minor salivary glands. SC is known for its wide morphological, architectural and immunohistochemical spectrum, which overlaps with those of several salivary gland neoplasms, including acinic cell carcinoma (AciCC) and intercalated duct-type intraductal carcinoma (IDC) in major salivary glands, and polymorphous adenocarcinoma (PAC) in minor salivary glands. These tumours share with SC some morphological features and SOX10 immunoreactivity; also, with the exception of AciCC, they all coexpress S100 and mammaglobin. METHODS AND RESULTS: We compared MUC4 and mammaglobin expression in 125 salivary gland carcinomas (54 genetically confirmed SCs, 20 AciCCs, 21 PACs, and 30 IDCs) to evaluate the potential of these two markers to differentiate these entities. Moderate to strong diffuse MUC4 positivity was detected in 49 SCs (90.7%), as compared with none of the IDCs and PACs. In contrast, mammaglobin was frequently expressed in SCs (30 of 36 cases; 83.3%), IDCs (24/28; 85.7%), and PACs (7/19; 36.8%). Two of three high-grade SCs lost MUC4 expression in the high-grade tumour component. No significant correlation was found between MUC4 expression and the fusion variant in SC (ETV6-NTRK versus non-ETV6-NTRK). CONCLUSION: The results of our study identify MUC4 as a sensitive (90.7%) and specific (100%) marker for SC, with high positive (100%) and negative (93.4%) predictive values. Thus, MUC4 may be used as a surrogate for SC in limited biopsy material and in cases with equivocal morphology.
Asunto(s)
Diagnóstico Diferencial , Carcinoma Secretor Análogo al Mamario/diagnóstico , Mucina 4/análisis , Neoplasias de las Glándulas Salivales , Biomarcadores de Tumor/análisis , Carcinoma/diagnóstico , Carcinoma/patología , Carcinoma de Células Acinares/diagnóstico , Carcinoma de Células Acinares/patología , Humanos , Mamoglobina A/metabolismo , Carcinoma Secretor Análogo al Mamario/metabolismo , Carcinoma Secretor Análogo al Mamario/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/metabolismo , Neoplasias de las Glándulas Salivales/patología , Glándulas Salivales/patologíaAsunto(s)
Carcinoma Secretor Análogo al Mamario/genética , Proteínas Proto-Oncogénicas c-ets/genética , Proteínas Represoras/genética , Neoplasias de la Vulva/genética , Femenino , Reordenamiento Génico , Humanos , Carcinoma Secretor Análogo al Mamario/patología , Persona de Mediana Edad , Neoplasias de la Vulva/patología , Proteína ETS de Variante de Translocación 6RESUMEN
Mammary analog secretory carcinoma (MASC), or secretory carcinoma of the thyroid is an extremely rare disease harboring ETV6-NTRK3 gene fusion with TRK activation. Here we report the twelfth case of MASC of the thyroid worldwide. A 36-year-old female was diagnosed with poor-differentiated thyroid carcinoma (PDTC). Pathology consultant and immunochemical workups showed the tumor cells were negative for TTF1, TG, PAX8, positive for S100, Vimentin, GATA-3, and focally positive for mammaglobin. Fluorescence in situ hybridization (FISH) assay using a dual-color break-apart probe showed ETV6 translocation t(12p13) (ETV6) was present and established the diagnosis of MASC. Next-generation sequencing (NGS) of a 47-gene panel identified exon 1-5 of ETV6 gene were fused with exons 15-19 of NTRK3 gene. The patient experienced three loco-regional recurrences within 12 months and eventually developed inoperable local disease as well as bilateral lung metastasis. She is currently receiving anti-TRK treatment with a follow-up time of 33 months. A literature review of MASC in the thyroid was also conducted.
Asunto(s)
Biomarcadores de Tumor/metabolismo , Proteínas Oncogénicas/metabolismo , Neoplasias de la Tiroides/diagnóstico , Adulto , Femenino , Humanos , Carcinoma Secretor Análogo al Mamario/diagnóstico , Carcinoma Secretor Análogo al Mamario/patología , Glándula Tiroides/patología , Neoplasias de la Tiroides/patologíaRESUMEN
RATIONALE: Mammary analogue secretory carcinoma is a low grade salivary gland malignancy, first described by Skalova et al in 2010. The histological, immunohistochemical, and molecular characteristics of this tumor resemble those of secretory carcinoma of the breast. PATIENT CONCERNS: A 40-year-old male patient without any specific past history came with complaints of 4âcm-sized hard, fixed, right infra-auricular mass without tenderness. There was no enlarged or enhancing lymph node in both neck. DIAGNOSES: Fine needle aspiration biopsy was done for right parotid mass and pathologic report was "lymphocytes only" that suggested benign or low-grade malignant parotid tumor. INTERVENTIONS: Partial parotidectomy including mass excision was performed. Operative finding showed hard bluish mass located in deep lobe of right parotid gland. OUTCOMES: Final pathologic report revealed secretory carcinoma of parotid gland. Homogenous eosinophilic secretions were identified inside microcystic structure. The immunophenotype was positive for epithelial membrane antigen, vimentin, S-100 protein. After 15 months of the surgery, the patient showed negative evidence of disease state. LESSONS: We present here a case of mammary analogue secretory carcinoma of the parotid gland to help further characterize this rare tumor.