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Head and Neck Pathology Mar 2023Intraosseous mucoepidermoid carcinoma (IMEC) and Glandular odontogenic cyst (GOC) are those two pathological entities causing diagnostic dilemma due to the... (Meta-Analysis)
Meta-Analysis Review
Diagnostic Reliability of CRTC1/3::MAML2 Gene Fusion Transcripts in Discriminating Histologically Similar Intraosseous Mucoepidermoid Carcinoma from Glandular Odontogenic Cyst: A Systematic Review and Meta-analysis.
BACKGROUND
Intraosseous mucoepidermoid carcinoma (IMEC) and Glandular odontogenic cyst (GOC) are those two pathological entities causing diagnostic dilemma due to the histopathological similarity. An accurate distinction between the two entities is difficult as both presents with a common radiological and histological similarities. The aim of our systematic review was to establish the diagnostic reliability of CRTC1/3::MAML2 gene fusion for the distinction between IMEC and GOC.
METHODS
A complete electronic literature search was made in MEDLINE by PubMed, Google Scholar, and EMBASE databases. Articles with keywords using molecular genetic findings of CRTC1/3::MAML2 gene fusion transcripts, IMEC and GOC were assessed and included for the systematic review.
RESULTS
Twelve subgroups having both qualitative and quantitative analysis revealed CRTC1/3::MAML2 sensitivity of 100% and specificity of 70.59% in differentiating GOC and IMEC. Fixed-effects model confirmed translocation-negative cases to have a decreased risk of association with IMEC (combined odds ratio 8.770, 95% confidence interval - 2.45 to 31.45, p < 0.002).
CONCLUSIONS
The current evidence supports that in all cases with positive gene fusion transcript of the CRTC1/3::MAML2 was specific for IMEC and was significantly differentiating it from GOC. Whereas cases of IMEC with negative gene fusion transcript pose diagnostic difficulty in differentiating from a GOC which is negative for CRTC1/3::MAML2 expression.
Topics: Humans; DNA-Binding Proteins; Trans-Activators; Carcinoma, Mucoepidermoid; Reproducibility of Results; Transcription Factors; Odontogenic Cysts; Mouth Neoplasms; Gene Fusion; Oncogene Proteins, Fusion
PubMed: 36357765
DOI: 10.1007/s12105-022-01494-x -
Indian Journal of Otolaryngology and... Jun 2023Salivary gland tumors most commonly involve the parotid gland. Among all the tumors, 80% are benign and of all the benign tumors 80% originate from the parotid gland....
Salivary gland tumors most commonly involve the parotid gland. Among all the tumors, 80% are benign and of all the benign tumors 80% originate from the parotid gland. The pleomorphic adenoma is the most common benign tumor whereas the mucoepidermoid carcinoma is the most prevalent malignant tumor. Mucoepidermoid carcinoma is a diagnostic challenge on FNAC with a high false negative rate. A 17-year-old female presented with slow-growing painless swelling below the right ear for two years. The history and clinical examination appeared to be benign parotid swelling. The further investigation proceeded and fine needle aspiration cytology was performed. A case of the parotid lump which has shown the pleomorphic adenoma of the parotid gland on cytology. Surgical resection was done and a post-operative specimen of the parotid gland showed mucoepidermoid carcinoma on histopathology. FNAC is not always reliable in the case of mucoepidermoid carcinoma of the parotid gland, especially in the low-grade type. The confirmatory diagnosis can be made only after the histopathological examination.
PubMed: 37275053
DOI: 10.1007/s12070-022-03441-2 -
Modern Pathology : An Official Journal... Mar 2017Sclerosing mucoepidermoid carcinoma with eosinophilia is a rare thyroid neoplasm of uncertain pathogenesis that resembles salivary gland mucoepidermoid carcinoma. This...
Sclerosing mucoepidermoid carcinoma with eosinophilia is a rare thyroid neoplasm of uncertain pathogenesis that resembles salivary gland mucoepidermoid carcinoma. This multi-institutional study characterizes the clinicopathologic and molecular features of this tumor by utilizing next-generation sequencing to assess common mutations and gene fusions involved in thyroid carcinogenesis as well as fluorescence in-situ hybridization for MAML2 translocations typical of salivary gland mucoepidermoid carcinoma. Nine cases (6 females and 3 males, mean age: 59 years, range 30-77 years) were identified. All cases were comprised of nests and strands of tumor cells with both squamous and mucinous differentiation embedded in a fibrohyaline stroma with an inflammatory infiltrate replete with eosinophils. All cases were p63 positive, thyroglobulin negative and showed variable expression of TTF-1. All nine cases were negative for MAML2 rearrangements. Five cases successfully tested by next-generation sequencing (ThyroSeq v.2 assay) were negative for mutations and translocations commonly involved in thyroid carcinogenesis. NTRK1 showed overexpression but no evidence of translocation. On follow-up, one patient died of persistent disease, whereas one of four remaining patients with available follow-up (mean: 7.3 years, range 4-11 years) demonstrated recurrence at 4 years. Thus, we show that sclerosing mucoepidermoid carcinoma with eosinophilia appears molecularly and morphologically distinct from follicular and C-cell-derived thyroid tumors as well as from salivary gland mucoepidermoid carcinoma. The overall and recurrence-free survival for these patients may be lower than for other well-differentiated thyroid cancers.
Topics: Adult; Aged; Carcinoma, Mucoepidermoid; Disease-Free Survival; Eosinophilia; Female; Gene Fusion; Humans; Male; Middle Aged; Mutation; Prognosis; Thyroid Gland; Thyroid Neoplasms; Translocation, Genetic
PubMed: 27910944
DOI: 10.1038/modpathol.2016.180 -
Journal of Veterinary Diagnostic... Jan 2023Salivary gland neoplasia is uncommon in veterinary species and has rarely been reported in cattle. Adenocarcinoma, squamous cell carcinoma, and pleomorphic carcinoma...
Salivary gland neoplasia is uncommon in veterinary species and has rarely been reported in cattle. Adenocarcinoma, squamous cell carcinoma, and pleomorphic carcinoma have been described in the parotid gland of dairy cows. Here we describe a case of high-grade mucoepidermoid carcinoma in a bull. The bull had a chronic history of caudal mandibular soft tissue swelling. Postmortem examination revealed a 30 × 30-cm mass with a caseonecrotic center, hemorrhage and necrosis of the ipsilateral cervical musculature, osteolysis of the right paracondylar process of the skull and right horn base, pulmonary nodules, and enlarged tracheobronchial lymph nodes. Histology of the mass, lungs, and lymph nodes revealed an invasive neoplasm composed of epithelial cells arranged in nests and ductular structures supported by a spindle cell stroma, with frequent central necrosis. Immunohistochemistry revealed that epithelial cells were diffusely positive for pancytokeratin and p63 with multifocal vimentin positivity; stromal cells were diffusely positive for vimentin and α-SMA. A salivary gland mucoepidermoid carcinoma was diagnosed based on these findings. Although rare, salivary gland neoplasia should be considered a differential diagnosis for mandibular masses in cattle.
Topics: Animals; Cattle; Female; Male; Adenocarcinoma; Carcinoma, Mucoepidermoid; Cattle Diseases; Necrosis; Salivary Gland Neoplasms; Salivary Glands
PubMed: 36377087
DOI: 10.1177/10406387221137550 -
Viruses Oct 2022Mucoepidermoid Carcinomas (MEC) represent the most common malignancies of salivary glands. Approximately 50% of all MEC cases are known to harbor gene fusions, but the...
Mucoepidermoid Carcinomas (MEC) represent the most common malignancies of salivary glands. Approximately 50% of all MEC cases are known to harbor gene fusions, but the additional molecular drivers remain largely uncharacterized. Here, we sought to resolve controversy around the role of human papillomavirus (HPV) as a potential driver of mucoepidermoid carcinoma. Bioinformatics analysis was performed on 48 MEC transcriptomes. Subsequent targeted capture DNA sequencing was used to annotate HPV content and integration status in the host genome. HPV of any type was only identified in 1/48 (2%) of the MEC transcriptomes analyzed. Importantly, the one HPV16+ tumor expressed high levels of p16, had high expression of HPV16 oncogenes E6 and E7, and displayed a complex integration pattern that included breakpoints into 13 host genes including , , , and as well as 9 non-genic regions. In this cohort, HPV is a rare driver of MEC but may have a substantial etiologic role in cases that harbor the virus. Genetic mechanisms of host genome integration are similar to those observed in other head and neck cancers.
Topics: Humans; Carcinoma, Mucoepidermoid; DNA-Binding Proteins; Alphapapillomavirus; Papillomaviridae; Papillomavirus Infections; Trans-Activators; Nuclear Proteins; Transcription Factors
PubMed: 36366450
DOI: 10.3390/v14112353 -
Medicina (Kaunas, Lithuania) Jan 2020Adenosquamous cancer of the uterine cervix is a rare type of cervical cancer with both malignant squamous and glandular components. A very rare subtype is...
Adenosquamous cancer of the uterine cervix is a rare type of cervical cancer with both malignant squamous and glandular components. A very rare subtype is mucoepidermoid carcinoma (MEC), which was first described as a salivary gland tumor. It has been described as having the appearance of a squamous cell carcinoma without glandular formation and contains intracellular mucin. The postoperative evolution of this tumor and the potentially poorer prognosis may indicate an intensification of the follow-up. The objective of our study was to analyze the frequency of mucoepidermoid carcinoma in hospitalized women with cervical cancer, clinical characteristics and prognosis. A retrospective study of all cases of mucoepidermoid carcinoma of the cervix at Department of Gynecologic Oncology,University Hospital-Pleven, Pleven Bulgaria between 1 January 2007 and 31 December 2016 was performed. All patients were followed-up till December 2019. We analyzed certain clinical characteristics of the patients; calculated the frequency of mucoepidermoid carcinoma of the cervix from all patients with stage I cervical cancer; and looked at the overall survival rate, correlation between overall survival, lymph node status and the size of the tumor. The frequency of MEC was 1.12% of all patients with stage I cervical cancer in this study. The median age of the patients with MEC was 46.7 years (range 38-62). Four patients (57.1%) were staged as FIGO IB1, and three patients (42.8%) were FIGO IB2. The size of the primary tumor was <2 cm in 2 patients (28.57%), 2-4 cm in 2 patients (28.57%) and >4 cm in 3 patients (42.8%). Metastatic lymph nodes were found in two patients (28.57%), and nonmetastatic lymph nodes were found in five patients (71.43%). There were two (28.57%) disease-related deaths during the study period. The five-year observed survival in the MEC group was 85.7% and in the other subtypes of adenosquamous cancer group was 78.3%. MEC of the uterine cervix is a rare entity diagnosis. As a mucin-producing tumor, it is frequently regarded as a subtype with worse clinical behavior and patients' outcomes. Nevertheless, our data did not confirm this prognosis. New molecular markers and better stratification are needed for better selection of patients with CC, which may benefit more from additional treatment and new target therapies.
Topics: Adult; Bulgaria; Carcinoma, Mucoepidermoid; Female; Humans; Lymph Nodes; Middle Aged; Neoplasm Staging; Prognosis; Retrospective Studies; Survival Rate; Uterine Cervical Neoplasms
PubMed: 31963763
DOI: 10.3390/medicina56010037 -
International Journal of Molecular... Apr 2022Mucoepidermoid carcinoma (MEC) is often seen in salivary glands and can harbor MAML2 translocations (MAML2+). The translocation status has diagnostic utility as an...
Mucoepidermoid carcinoma (MEC) is often seen in salivary glands and can harbor MAML2 translocations (MAML2+). The translocation status has diagnostic utility as an objective confirmation of the MEC diagnosis, for example, when distinction from the more aggressive adenosquamous carcinoma (ASC) is not straightforward. To assess the diagnostic relevance of MAML2, we examined our 5-year experience in prospective testing of 8106 solid tumors using RNA-seq panel testing in combinations with a two-round Delphi-based scenario survey. The prevalence of MAML2+ across all tumors was 0.28% ( = 23/8106) and the majority of MAML2+ cases were found in head and neck tumors (78.3%), where the overall prevalence was 5.9% ( = 18/307). The sensitivity of MAML2 for MEC was 60% and most cases (80%) were submitted for diagnostic confirmation; in 24% of cases, the MAML2 results changed the working diagnosis. An independent survey of 15 experts showed relative importance indexes of 0.8 and 0.65 for "confirmatory MAML2 testing" in suspected MEC and ASC, respectively. Real-world evidence confirmed that the added value of MAML2 is a composite of an imperfect confirmation test for MEC and a highly specific exclusion tool for the diagnosis of ASC. Real-world evidence can help move a rare molecular-genetic biomarker from an emerging tool to the clinic.
Topics: Carcinoma, Mucoepidermoid; DNA-Binding Proteins; Humans; Nuclear Proteins; Oncogene Proteins, Fusion; Prospective Studies; Salivary Gland Neoplasms; Trans-Activators; Transcription Factors; Translocation, Genetic
PubMed: 35457138
DOI: 10.3390/ijms23084322 -
Journal of Medical Case Reports Dec 2023Mucoepidermoid carcinoma of the breast is a rare special type of salivary gland-like tumor of the breast, usually displaying triple-negative phenotype. To date, only 64... (Review)
Review
BACKGROUND
Mucoepidermoid carcinoma of the breast is a rare special type of salivary gland-like tumor of the breast, usually displaying triple-negative phenotype. To date, only 64 cases have been reported in the English literature. Herein, we report the first case of mucoepidermoid carcinoma of the breast with human epidermal growth factor receptor 2 gene amplification.
CASE PRESENTATION
A 58-year-old Caucasian woman treated with breast-conserving surgery, radiotherapy, and chemotherapy for an invasive breast carcinoma of no special type, relapsed 20 years later in the ipsilateral left breast. Histological examination of the core needle biopsy of the relapse deferred to the surgical specimen for the definitive diagnosis, because of the broad differential diagnosis. On the resected specimen we observed the presence of a poorly differentiated carcinoma with mucoepidermoid carcinoma of the breast typical features consisting of epidermoid, intermediate and mucinous cells lacking true keratinization, in keeping with the latest World Health Organization diagnostic criteria. The mucoepidermoid carcinoma of the breast was weakly estrogen receptor and androgen receptor positive and progesterone receptor negative, but exceptionally showed human epidermal growth factor receptor 2 gene amplification. Mastermind-like transcriptional coactivator 2 gene translocations were not detected by fluorescent in situ hybridization. The patient received adjuvant chemotherapy with anti-human epidermal growth factor receptor 2 therapy but no endocrine therapy. After 61 months of follow-up, no signs of local or distant recurrence were observed.
CONCLUSIONS
Mucoepidermoid carcinoma of the breast is a very rare entity. Despite being most frequently triple negative, the standard evaluation of receptor status is mandatory, as well as strict application of World Health Organization diagnostic criteria for correct patient management.
Topics: Female; Humans; Middle Aged; Carcinoma, Mucoepidermoid; In Situ Hybridization, Fluorescence; Neoplasm Recurrence, Local; Breast Neoplasms; Salivary Glands
PubMed: 38062474
DOI: 10.1186/s13256-023-04233-0 -
Indian Journal of Dental Research :... 2018Cancer stem cells (CSCs) may participate in angiogenesis by lining the wall of tumor vessels.
BACKGROUND
Cancer stem cells (CSCs) may participate in angiogenesis by lining the wall of tumor vessels.
AIM
The current study aimed to present the role of vimentin and CD44 in inducing vasculogenic mimicry (VM) and epithelial-mesenchymal transition (EMT) in different grades of mucoepidermoid carcinoma (MEC).
MATERIALS AND METHODS
A total of 63 MEC samples were collected from the archive of Department of Pathology of Taleghani Educational Hospital, Tehran, Iran. Vimentin and CD44/periodic acid-Schiff double staining was performed.
STATISTICAL ANALYSIS
Chi-square test was used to examine the differences with categorical variables. Significance level was set at 0.05. Pearson's correlation coefficient was used to assess the colocalization of the markers.
RESULTS
There were statistically significant differences between tumor grade and the expression levels of vimentin and CD44 (P = 0.000).
CONCLUSION
Our results may disclose a definite relationship between microvessl density (MVD), VM, EMT, and CSCs in MEC samples. Thus, it is reasonable to suggest that CSCs are related to angiogenesis and VM.
Topics: Adult; Biomarkers, Tumor; Carcinoma, Mucoepidermoid; Female; Humans; Hyaluronan Receptors; Immunohistochemistry; Male; Middle Aged; Mouth Neoplasms; Neovascularization, Pathologic; Vimentin
PubMed: 29900918
DOI: 10.4103/ijdr.IJDR_184_17 -
Otolaryngology--head and Neck Surgery :... Apr 2023Various prognostic factors are associated with the survival of patients with parotid mucoepidermoid carcinoma (MEC). The aim of this systematic review is to summarize...
OBJECTIVE
Various prognostic factors are associated with the survival of patients with parotid mucoepidermoid carcinoma (MEC). The aim of this systematic review is to summarize the clinical and pathologic prognostic factors on survival outcomes in patients with parotid MEC.
DATA SOURCES
Articles published from database inception to July 2020 on OVID Medline, OVID Embase, Cochrane Central, and Scopus.
REVIEW METHODS
Studies were included that reported clinical or pathologic prognostic factors on survival outcomes for adult patients with parotid MEC. Data extraction, risk of bias, and quality assessment were conducted by 2 independent reviewers.
RESULTS
A total of 4290 titles were reviewed, 396 retrieved for full-text screening, and 18 included in the review. The average risk of bias was high, and quality assessment for the prognostic factors ranged from very low to moderate. Prognostic factors that were consistently associated with negative survival outcomes on multivariate analysis included histologic grade (hazard ratio [HR], 5.66), nodal status (HR, 2.86), distant metastasis (HR, 3.10-5.80), intraparotid metastasis (HR, 13.52), and age (HR, 1.02-6.86). Prognostic factors that inconsistently reported associations with survival outcomes were TNM stage, T classification, and N classification.
CONCLUSION
Histologic grade, nodal status, distant metastasis, intraparotid metastasis, and age were associated with worse survival outcomes. These prognostic factors should be considered when determining the most appropriate treatment and follow-up plan for patients with parotid MEC.
Topics: Adult; Humans; Prognosis; Neoplasm Staging; Carcinoma, Mucoepidermoid; Parotid Neoplasms; Disease-Free Survival; Retrospective Studies
PubMed: 35316125
DOI: 10.1177/01945998221086845