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      • Record: found
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      Mammary analog secretory carcinoma of the parotid gland: A case report and literature review.

      case-report

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          Highlights

          • •

            Mammary analog secretory carcinoma (MASC) is a newly described carcinoma of the salivary glands.

          • •

            MASC is characterized by morphologic and immunohistochemical features that strongly resemble a secretory carcinoma (SC) of the breast.

          • •

            MASC and SC of the breast share the presence of translocation t(12;15) (p13;q25), that results in the formation of an oncogenic fusion gene ETV6-NTK3.

          • •

            The majority of MASC present among men and arise from the parotid gland.

          • •

            MASC is a low-grade carcinoma with potential for high-grade transformation.

          Abstract

          Background

          Mammary analog secretory carcinoma (MASC) was first described in 2010 by Skálová et al. This entity shares morphologic and immunohistochemical features with the secretory carcinoma (SC) of the breast. MASC usually presents as an asymptomatic mass in the parotid gland and predominantly affects men. This tumor is considered a low-grade carcinoma but has the potential for high-grade transformation. We report one MASC case and a review of world literature.

          Case report

          A 66-year-old male patient presented because he noticed a mass of approximately 3 × 3 cm on the right pre-auricular region. Physical examination demonstrated a 3 × 3.5 cm, firm, fixed, non-tender mass in the right pre-auricular region. An MRI of the head and neck showed an ovoid heterogeneous lesion, dependent of the right parotid gland of 27 × 28 mm. We performed a superficial parotidectomy with identification and preservation of the facial nerve. The immunophenotype was positive for epithelial membrane antigen (EMA), CK8/18, vimentin, S-100 protein, and mammoglobin. No further surgical interventions or adjuvant therapies were needed. The patient will have a close follow up.

          Conclusion

          The presence of t(12;15) (p13;q25) translocation which results in the ETV6-NTRK3 gene fusion or positive immunochemical studies for STAT5, mammoglobin and S100 protein, are necessary to confirm the diagnosis of MASC. MASC treatment should mimic the management of other low-grade malignant salivary gland neoplasms. The inhibition of ETV6-NTRK3 gene fusion could be used as treatment in the future.

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          Most cited references24

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          Mammary analogue secretory carcinoma of salivary glands, containing the ETV6-NTRK3 fusion gene: a hitherto undescribed salivary gland tumor entity.

          Marie Geierová, Ilan Weinreb, Ivo Stárek … (2010)
          We present a series of 16 salivary gland tumors with histomorphologic and immunohistochemical features reminiscent of secretory carcinoma of the breast. This is a hitherto undescribed and distinctive salivary gland neoplasm, with features resembling both salivary acinic cell carcinoma (AciCC) and low-grade cystadenocarcinoma, and displaying strong similarities to breast secretory carcinoma. Microscopically, the tumors have a lobulated growth pattern and are composed of microcystic and glandular spaces with abundant eosinophilic homogenous or bubbly secretory material positive for periodic acid-Schiff, mucicarmine, MUC1, MUC4, and mammaglobin. The neoplasms also show strong vimentin, S-100 protein, and STAT5a positivity. For this tumor, we propose a designation mammary analogue secretory carcinoma of salivary glands (MASC). The 16 patients comprised 9 men and 7 women, with a mean age of 46 years (range 21 to 75). Thirteen cases occurred in the parotid gland, and one each in the minor salivary glands of the buccal mucosa, upper lip, and palate. The mean size of the tumors was 2.1 cm (range 0.7 to 5.5 cm). The duration of symptoms was recorded in 11 cases and ranged from 2 months to 30 years. Clinical follow-up was available in 13 cases, and ranged from 3 months to 10 years. Four patients suffered local recurrences. Two patients died, 1 of them owing to multiple local recurrences with extension to the temporal bone, and another owing to metastatic dissemination to cervical lymph nodes, pleura, pericardium, and lungs. We have shown a t(12;15) (p13;q25) ETV6-NTRK3 translocation in all but one case of MASC suitable for analysis. One case was not analyzable and another was not available for testing. This translocation was not found in any conventional salivary AciCC (12 cases), nor in other tumor types including pleomorphic adenoma (1 case) and low-grade cribriform cystadenocarcinoma (1 case), whereas ETV6-NTRK3 gene rearrangements were proven in all 3 tested cases of mammary secretory carcinoma. Thus, our results strongly support the concept that MASC and AciCC are different entities.
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            A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma.

            S Knezevich, Gino Lim, Huizhong W. Tao … (1998)
            Congenital (or infantile) fibrosarcoma (CFS) is a malignant tumour of fibroblasts that occurs in patients aged two years or younger. CFS is unique among human sarcomas in that it has an excellent prognosis and very low metastatic rate. CFS is histologically identical to adult-type fibrosarcoma (ATFS); however, ATFS is an aggressive malignancy of adults and older children that has a poor prognosis. We report a novel recurrent t(12;15)(p13;q25) rearrangement in CFS that may underlie the distinctive biological properties of this tumour. By cloning the chromosome breakpoints, we show that the rearrangement fuses the ETV6 (also known as TEL) gene from 12p13 with the 15q25 NTRK3 neurotrophin-3 receptor gene (also known as TRKC). Analysis of mRNA revealed the expression of ETV6-NTRK3 chimaeric transcripts in all three CFS tumours analysed. These were not detected in ATFS or infantile fibromatosis (IFB), a histologically similar but benign fibroblastic proliferation occurring in the same age-group as CFS. ETV6-NTRK3 fusion transcripts encode the helix-loop-helix (HLH) protein dimerization domain of ETV6 fused to the protein tyrosine kinase (PTK) domain of NTRK3. Our studies indicate that a chimaeric PTK is expressed in CFS and this may contribute to oncogenesis by dysregulation of NTRK3 signal transduction pathways. Moreover, ETV6-NTRK3 gene fusions provide a potential diagnostic marker for CFS.
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              ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma.

              S Knezevich, M Garnett, Kristina Sørensen … (1998)
              Congenital mesoblastic nephroma (CMN) is an infantile spindle cell tumor of the kidney that is subdivided into "classical" and "cellular" forms based on the degree of cellularity and mitotic activity. The histogenesis of CMN remains obscure, but relationships to other pediatric renal neoplasms have been proposed. However, cellular CMN is virtually identical histologically to congenital fibrosarcoma (CFS), a malignant tumor of fibroblasts in children of the same age group. Moreover, cytogenetic studies have reported common trisomies in CFS and cellular CMN, particularly of chromosome 11. We show here that t(12;15)(p13;q25)-associated ETV6-NTRK3 gene fusions described in CFS are also present in cellular CMN. ETV6-NTRK3 chimeric transcripts were detected in 8 of 9 cellular CMNs and 2 of 2 mixed CMNs. In contrast, all of the four classical CMNs tested were negative, as were cases of Wilms' tumor and clear cell sarcoma of the kidney. Moreover, we found trisomy 11 only in cellular or mixed CMNs with the ETV6-NTRK3 gene fusion. Our studies indicate that classical and cellular CMN have different genetic features and support the concept that cellular CMN is histogenetically related to CFS. They also provide insight into potential mechanisms involved in the transformation of the classical into the cellular form of CMN.
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                Author and article information

                Contributors
                Ricardo Balanzá
                Rodrigo Arrangoiz
                Journal
                Journal ID (nlm-ta): Int J Surg Case Rep
                Journal ID (iso-abbrev): Int J Surg Case Rep
                Title: International Journal of Surgery Case Reports
                Publisher: Elsevier
                ISSN (Electronic): 2210-2612
                Publication date PMC-release: 01 October 2015
                Publication date Collection: 2015
                Publication date (Electronic): 01 October 2015
                Volume: 16
                Pages: 187-191
                Affiliations
                [a ]General Surgery Resident, Hospital Ángeles Lomas, Av. Vialidad de la Barranca s/n, Col. Valle de las Palmas Huixquilucan, Estado de México C.P. 52763, Mexico
                [b ]Department of Surgery, Centro Médico ABC, Av. Carlos Graef Fernández 154, Col. Tlaxala, Del. Cuajimalpa de Morelos, México Distrito Federal C.P. 05300, Mexico
                Author notes
                [* ]Corresponding author. balanza.ricardo@ 123456gmail.com
                Article
                Publisher ID: S2210-2612(15)00423-X
                DOI: 10.1016/j.ijscr.2015.09.031
                PMC ID: 4643465
                PubMed ID: 26496413
                SO-VID: ec79d068-faf9-4030-abc1-bb055bf9a64a
                Copyright © © 2015 The Authors
                License:

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 8 April 2015
                Date revision received : 23 September 2015
                Date accepted : 23 September 2015
                Categories
                Subject: Case Report

                Data availability:

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