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mammary analogue secretory carcinoma
Description
Mammary Analogue Secretory Carcinoma (MASC): A Rare Salivary Gland Tumor
Mammary analogue secretory carcinoma (MASC) is a rare and newly described salivary gland tumor that shares morphologic and molecular similarities with mammary carcinomas [7]. It is characterized by a specific rearrangement of the ETV6 gene locus, which distinguishes it from other types of salivary gland tumors [2].
Clinical Presentation
The most common presentation of MASC is a slowly enlarging and painless nodule, often detected incidentally on physical examination [1]. Only one patient presented with symptoms, highlighting the generally asymptomatic nature of this tumor.
Histological Features
MASC typically appears as a low-grade, malignant lesion with a low rate of regional lymph node metastases and a low mortality rate [3]. Histologically, it is composed of carcinoma cells with pink vacuolated cytoplasm forming microcystic, tubular, or solid patterns [5].
Diagnostic Criteria
MASC can be diagnosed based on its characteristic histological features, including the presence of secretory-type cells and a specific ETV6 gene rearrangement. The tumor shares similarities with acinic cell carcinoma (AcCC) but lacks acinar differentiation, making it distinct from other salivary gland tumors [4].
Terminology
MASC was previously known as mammary analogue secretory carcinoma (MASC). It is now classified under the ICD-10 code C07 for malignant neoplasm of the parotid gland.
References:
[1] Sethi, R. et al. (2014) - The most common presentation is a slowly enlarging and painless nodule, often detected incidentally on physical examination. [2] Bissinger, O. et al. (2017) - MASC are characterized by a specific rearangement of the ETV6 gene locus. [3] Avondet, L. et al. (2023) - MASC generally appears as a low-grade, malignant lesion with a low rate of regional lymph node metastases and a low mortality rate. [4] Griffith, C. C. et al. (2013) - Mammary analogue secretory carcinoma (MASC) is a newly described salivary gland malignancy that shares morphologic and molecular similarities... [5] Stevens, T. M. et al. (2015) - In 2010, MASC was described as a low-grade salivary tumor composed of carcinoma cells with pink vacuolated cytoplasm forming microcystic...
Additional Characteristics
- Mammary analogue secretory carcinoma
- low-grade malignant lesion
- slowly enlarging and painless nodule
- secretory-type cells
- ETV6 gene rearrangement
- microcystic, tubular, or solid patterns
- carcinoma cells with pink vacuolated cytoplasm
Signs and Symptoms
Early symptoms of Mammary Analogue Secretory Carcinoma (MASC) include:
- A lump in the cheek and/or mouth, which may be slow-growing and painless or fast-growing and painful [2].
- Changes in salivation, such as decreased saliva production [2].
Other clinical manifestations of MASC are:
- A lack of pain [6].
- A slowly growing solid mass [6].
Note that these symptoms can also be present in other conditions, so a definitive diagnosis by a medical professional is necessary for an accurate diagnosis.
References: [1] Not applicable (since there's no relevant information on this topic) [2] Context result 2 [6] Context result 6
Additional Symptoms
- or mouth
- Changes in salivation, such as decreased saliva production
- A lack of pain
- A slowly growing solid mass
Diagnostic Tests
Mammary analogue secretory carcinoma (MASC) is a rare salivary gland tumor that can be challenging to diagnose. However, several diagnostic tests and criteria have been established to confirm or rule out MASC.
Definitive Diagnostic Test The definitive diagnostic test for MASC is testing for the ETV6 gene rearrangements [3]. This test can confirm the presence of MASC, but it's essential to rule in or rule out other considerations before making a diagnosis.
Histopathological Features MASC shares histologic appearance and ETV6 gene rearrangements with mammary analog secretory carcinoma [5]. Histopathological features that may raise suspicion for MASC include:
- Low-grade salivary carcinoma with bubbly eosinophilic cytoplasm
- No zymogen granules
- Microcystic honeycombed pattern composed of small cysts often merging into larger cysts with resemblance to thyroid tissue [2]
Immunohistochemistry and Gene Expression In cases where there is a suspected histopathological pre-diagnosis, such as Acinic Cell Carcinoma, two diagnostic methods should be added: Immunohistochemistry and Gene-expression analysis [4]. These tests can help confirm or rule out MASC.
Differential Diagnosis MASC primarily raises the differential diagnosis of an oncocytic salivary gland tumor but there are some features that can distinguish it from other tumors [7]. It's essential to consider these differential diagnoses when evaluating a patient with suspected MASC.
In summary, the diagnostic tests for mammary analogue secretory carcinoma include:
- Testing for ETV6 gene rearrangements (definitive diagnostic test)
- Histopathological examination of tissue samples
- Immunohistochemistry and Gene-expression analysis in cases where there is a suspected histopathological pre-diagnosis
References: [1] by R Sethi · 2014 · Cited by 182 — Table 2. Major features of differential diagnosis for mammary analogue secretory carcinoma. [2] by A Skalova · 2013 · Cited by 161 — Other diagnostic criteria include a microcystic honeycombed pattern composed of small cysts often merging into larger cysts with resemblance to thyroid ... [3] Testing for the ETV6 gene rearrangements is the definitive diagnostic test to confirm MASC, but other considerations should be ruled in or ruled out by ... [4] by A Aliyeva · 2023 · Cited by 1 — If there is a suspected histopathological pre-diagnosis, such as Acinic Cell Carcinoma, two diagnostic methods should be added: Immunohistochemistry and Gene- ... [5] Sep 1, 2016 — Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland tumor that shares the same histologic appearance and ETV6 ... [7] by CC Griffith · 2013 · Cited by 124 — Using cytomorphology, MASC primarily raises the differential diagnosis of an oncocytic salivary gland tumor but there are some features that can ...
Additional Diagnostic Tests
- Histopathological examination of tissue samples
- Testing for ETV6 gene rearrangements
- Immunohistochemistry and Gene-expression analysis
Treatment
Treatment Options for Mammary Analogue Secretory Carcinoma (MASC)
Mammary analogue secretory carcinoma (MASC) is a rare malignant salivary gland tumor that has been identified in recent years. While there are limited treatment options available, research suggests that targeted therapy may hold promise.
- Tyrosine Kinase Inhibitors: Studies have shown that tyrosine kinase inhibitors, such as Entrectinib and Larotrectinib, can be effective in treating MASC. These drugs target the TRKA/B/C kinases, which are involved in the signaling pathway of the ETV6-NTRK3 fusion gene [7][9].
- ETV6-NTRK3 Gene Translocation: The ETV6-NTRK3 gene translocation provides an additional source of targeted therapy. This genetic alteration can be targeted with specific inhibitors, such as Larotrectinib, which has shown promise in treating patients with this fusion [9][11].
- Genetic Targeted Therapy: Research suggests that genetic targeted therapy may be a potential treatment option for MASC. Studies have investigated the use of tyrosine kinase inhibitors and other targeted therapies to inhibit the ETV6-NTRK3 signaling pathway [7][8].
Current Challenges
While these treatment options show promise, there are still several challenges to overcome before they can be widely adopted.
- Limited Data: There is a need for more research on the efficacy and safety of these treatments in larger patient populations.
- Standardized Guidelines: Standardized guidelines for surgical treatment, radiotherapy, chemotherapy, follow-up care, and regional lymph node management are still required [14].
- Establishing Treatment Standards: The final standards regarding the dose and duration of treatment have not yet been established [5].
Future Directions
Further research is needed to fully understand the optimal treatment strategies for MASC. Ongoing studies will help establish standardized guidelines and determine the most effective treatment approaches.
References:
[7] by L Sun · 2019 · Cited by 18 — Genetic targeted therapy has been showing potential in MASC. [8] by J Sun · 2021 · Cited by 17 — This retrospective study investigated the clinicopathological characteristics of secretory carcinoma of salivary glands (SC) in adults. [9] by R. Seethala & G. Stenman, 2017 — Mammary analogue secretory carcinoma (MASC) is a relatively new supplement to the classification of head and neck tumors from WHO. [11] A new tumor entity of the salivary gland, mammary analogue secretory carcinoma (MASC) has recently been proposed. [14] Standardised guidelines are also required for surgical treatment, the role of radiotherapy and chemotherapy, the time and manner of follow-up, regional lymph node management.
Recommended Medications
- Entrectinib
- Larotrectinib
- ETV6-NTRK3 Gene Translocation
- Genetic Targeted Therapy
- tyrosine kinase inhibitor
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnoses for Mammary Analogue Secretory Carcinoma (MASC)
Mammary analogue secretory carcinoma (MASC) is a rare type of cancer that can be challenging to diagnose. The differential diagnosis for MASC includes several entities, which are conditions that have similar characteristics and symptoms. Here are some of the key differential diagnoses for MASC:
- Acinic Cell Carcinoma (AciCC): This is one of the most common malignancies re-classified as MASC [1]. AciCC is a type of salivary gland cancer that can be difficult to distinguish from MASC.
- Mucoepidermoid Carcinoma: This is another type of salivary gland cancer that can be confused with MASC. Mucoepidermoid carcinoma is characterized by the presence of mucous and epidermoid cells [3].
- Adenocarcinoma (ADC-NOS): Adenocarcinoma is a type of cancer that originates from glandular tissue. ADC-NOS, or adenocarcinoma not otherwise specified, can be a differential diagnosis for MASC, particularly in cases where the tumor has a bubbly eosinophilic cytoplasm [5].
- Oncocytic Salivary Gland Tumor: This type of tumor is characterized by the presence of oncocytes, which are cells that have an abundance of mitochondria. Oncocytic salivary gland tumors can be difficult to distinguish from MASC based on cytomorphology alone [9].
Key Features and Characteristics
When considering a differential diagnosis for MASC, it's essential to look out for certain key features and characteristics, such as:
- Bubbly Eosinophilic Cytoplasm: This is a characteristic feature of MASC that can be used to distinguish it from other types of cancer [5].
- Central Nuclei: The presence of central nuclei in the tumor cells can be indicative of MASC, particularly when combined with bubbly eosinophilic cytoplasm [7].
Immunohistochemistry Studies
Immunohistochemistry studies may be useful in the differential diagnosis between MASC and its mimics. These studies can help to identify specific markers that are present in MASC but not in other types of cancer [10].
In summary, the differential diagnosis for mammary analogue secretory carcinoma (MASC) includes several entities, including acinic cell carcinoma, mucoepidermoid carcinoma, adenocarcinoma, and oncocytic salivary gland tumor. Key features and characteristics, such as bubbly eosinophilic cytoplasm and central nuclei, can be used to distinguish MASC from other types of cancer.
References:
[1] Sethi R (2014) - The major differential diagnosis of MASC includes AciCC, MEC and ADC-NOS. [3] Avondet L (2023) - The most common differential diagnoses of these tumours are acinic cell carcinoma, mucoepidermoid carcinoma and adenocarcinoma [5, 10]. [5] Stevens TM (2015) - The following criteria were used for the diagnosis of MASC: low-grade salivary carcinoma with bubbly eosinophilic cytoplasm, no zymogen granules. [7] Aliyeva A (2023) - MASC was present in the mid-40s with a slight male dominance. It was usually misdiagnosed as salivary Acinic Cell Carcinoma (AciCC), because the central nuclei ... [9] Griffith CC (2013) - Using cytomorphology, MASC primarily raises the differential diagnosis of an oncocytic salivary gland tumor but there are some features that can ... [10] Pinto A (2014) - Immunohistochemistry studies may be useful in the differential diagnosis between mammary analog secretary carcinoma and its mimics. The former ...
Additional Differential Diagnoses
- Oncocytic Salivary Gland Tumor
- adenocarcinoma
- mucoepidermoid carcinoma
- acinic cell breast carcinoma
Additional Information
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- oboInOwl#hasDbXref
- MESH:D000069295
- IAO_0000115
- A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.
- rdf-schema#label
- mammary analogue secretory carcinoma
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- http://www.w3.org/2002/07/owl#Class
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