Mammary Analogue Secretory Carcinoma of Salivary Glands, Containing the ETV6-NTRK3 Fusion Gene: A Hitherto Undescribed Salivary Gland Tumor Entity

2010 ◽  
Vol 34 (5) ◽  
pp. 599-608 ◽  
Author(s):  
Alena Skálová ◽  
Tomas Vanecek ◽  
Radek Sima ◽  
Jan Laco ◽  
Ilan Weinreb ◽  
...  
2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Joseph Mathew ◽  
Michael Carvalho ◽  
Katherine Chorneyko ◽  
Samih Salama

Mammary analogue secretory carcinoma (MASC) is a rare salivary gland tumor analogous to secretory carcinoma of the breast. The diagnosis of MASC can be challenging due to substantial morphologic and immunohistochemical similarities with other salivary gland tumors. The differential diagnosis of MASC is broad and includes intraductal carcinoma, acinic cell carcinoma, and adenocarcinoma, not otherwise specified. Although molecular testing for ETV6 gene rearrangement is characteristic of MASC and has not been shown in any other salivary gland tumor, a particular challenge arises when such testing is unavailable, or when molecular testing for ETV6 gene rearrangement is negative in a suspected case of MASC. Our study presents the diagnostic workup of a challenging case of MASC with immunohistochemistry, electron microscopy, and cytogenetic studies performed to resolve the diagnosis.


2000 ◽  
Vol 14 (1) ◽  
pp. 81-83 ◽  
Author(s):  
M.L. Voz ◽  
W.J.M. Van de Ven ◽  
K. Kas

Pleomorphic adenoma, or mixed tumor of the salivary glands, is a benign tumor originating from the major and minor salivary glands. Eighty-five percent of these tumors are found in the parotid gland, 10% in the minor (sublingual) salivary glands, and 5% in the submandibular gland. It is the most common type of salivary gland tumor, accounting for almost 50% of all neoplasms in these organs. In fact, after the first observation of recurrent loss of chromosome 22 in meningioma, this was the second type of benign tumor for which non-random chromosomal changes were reported. The rate of malignant change with the potential to metastasize has been reported to be only 2 to 3%, and only a few cases of metastasizing pleomorphic salivary gland adenomas have been described to date. The fact that these tumors arise in organs located in an ontogenetic transitional zone, a region where endoderm and ectoderm meet, might be one of the reasons for the often-problematic histopathological classification. This type of benign tumor has been cytogenetically very well-characterized, with several hundreds of tumors karyotyped. In addition to the cytogenetic subgroup with an apparently normal diploid stemline (making up approximately 30% of the cases), three major cytogenetic subgroups can be distinguished. In addition to a subgroup showing non-recurrent clonal abnormalities, another subgroup is composed of tumors with various translocations involving 12ql5. By far the largest cytogenetic subgroup, however, consists of tumors with chromosome 8 abnormalities, mainly showing translocations involving region 8ql2. The most frequently encountered aberration in this group is a t(3;8)(p21;q12).


Author(s):  
Shashikant Anil Pol ◽  
Surinder K. Singhal ◽  
Nitin Gupta ◽  
Himanshu Bayad

<p>Mammary analogue secretary carcinoma are salivary gland tumors similar to secretary carcinoma of breast histologically. It usually affects adults with mean age group of 45 years. Clinically it is usually slow growing, low grade malignancy with favorable prognosis. We are reporting a case of 47 years old female presented with complaints of swelling behind left ear for last 7 years. It was slow growing, painless and persistent. On examination, 4 x 3 cm swelling was present just below left ear lobule. It was nontender, firm, irregular in shape with smooth surface with slight mobility and overlying skin pinchable. Fine needle aspiration cytology suggested benign tumor with cystic change. On contrast enhanced computed tomography scan, there was a lobulated hypodense lesion measuring 24×35×32 mm with internal septations and enhancement of wall in expected location of superficial as well as deep lobe of left parotid gland. Patient underwent left total conservative parotidectomy and histopathology came out to be secretory analogue mammary carcinoma. Subsequently she received post-operative radiotherapy. Patient is on regular follow up and disease free till date. Usually mammary analogue secretory carcinoma is a low-grade malignancy with good prognosis. Immunohistochemistry is confirmatory which shows positivity for S-100 protein and mammaglobin.</p>


2000 ◽  
Vol 124 (2) ◽  
pp. 291-295 ◽  
Author(s):  
Toshitaka Nagao ◽  
Isamu Sugano ◽  
Osamu Matsuzaki ◽  
Hitoshi Hara ◽  
Yoichiro Kondo ◽  
...  

Abstract Intraductal papilloma is an extremely rare benign salivary gland tumor that occurs most commonly in the minor salivary glands. To our knowledge, a malignant counterpart of intraductal papilloma has not been described previously. We report one case each of benign and malignant intraductal papillary tumors. The benign tumor occurred in the sublingual gland and was a typical example of intraductal papilloma, with the exception that we found no previously published reports of this type of tumor in this location. The other patient had a left parotid gland tumor that was architecturally similar to the intraductal papilloma, with the addition of cytologic atypia, intraductal extension, microinvasion, and lymph node metastases. This tumor was diagnosed as intraductal papillary adenocarcinoma with an invasive component. Both patients were alive and well without evidence of recurrence 2 years and 6 months (case 1) and 6 years (case 2) after surgery. Immunohistochemical examination revealed that the tumor cells resembled duct luminal cells in both cases. The 2 tumors had different immunoreactivities for carcinoembryonic antigen, p53, and Ki-67. The malignant counterpart of intraductal papilloma should be considered in the differential diagnosis of salivary gland tumors with a predominantly papillary structure, even though this tumor is extremely rare.


2019 ◽  
Vol 33 (4) ◽  
pp. 541-550 ◽  
Author(s):  
Kiyong Na ◽  
Juan C. Hernandez-Prera ◽  
Jae-Yol Lim ◽  
Ha Young Woo ◽  
Sun Och Yoon

AbstractSecretory carcinoma is a salivary gland tumor with a characteristic chromosomal translocation that results in an ETV6-NTRK3 fusion gene. Secretory carcinoma shows relatively frequent rates of lymph-node metastasis and tumor recurrence and has a characteristic histology. Except for the ETV6 translocation, genomic alterations in secretory carcinoma have not been reported. In the present study, we characterized the novel recurrent genetic mutations of secretory carcinoma. On the basis of histology, immunohistochemistry, and ETV6 gene break-apart fluorescence in situ hybridization assays, 22 tumors were classified as secretory carcinomas (19 ETV6 translocation-positive and 3 ETV6 translocation-negative secretory carcinomas) and their clinicopathologic characteristics were reviewed. Targeted deep sequencing analyses were performed on 20 secretory carcinomas (17 ETV6 translocation-positive and 3 ETV6 translocation-negative secretory carcinomas) to investigate their genetic alterations. The A16V (C→T) mutation in PRSS1, which encodes a cationic trypsinogen and has a mutation associated with hereditary pancreatitis and pancreatic adenocarcinoma, was observed in 40% (8/20) (7/17 of ETV6 translocation-positive and 1/3 of ETV6 translocation-negative secretory carcinomas). Pathogenic variants of MLH1, MUTYH, and STK11 were also identified. Variants of uncertain significance included mutations in KMT5A. These novel characteristic genetic alterations may advance current understandings of secretory carcinoma tumorigenesis and progression, leading to improved diagnoses and treatment strategies.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Jerome A. Lindeboom ◽  
Jean-Pierre T. F. Ho ◽  
Naomi Donner ◽  
Willem H. Schreuder

Pleomorphic adenoma is the most common salivary gland tumor but is extremely rare in pediatric patients. The parotid gland is the most affected salivary gland, and the minor salivary glands are rarely affected. Here, we report a case of a 12-year-old boy with a pleomorphic adenoma of the palate.


Author(s):  
Daliah Abdulhafeez ◽  
◽  
Abdullah Ghafouri ◽  

Mammary analogue secretory carcinoma is a rare salivary gland tumor that has a wide range of clinical presentation ranging from indolent, local and slowly growing tumors to a very aggressive, infiltrative and widely metastasizing forms. We report a case of an unfortunate patient whose tumor had a very quick ominous disease course with aggressive clinical and histological presentation. This case is the first case, to our knowledge, to be reported in the literature from Saudi Arabia of MASC with features of high grade transformation


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