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Diagnostic Pathology Jan 2024Mammary mucoepidermoid carcinoma (MEC) is a rare entity. The molecular characteristics of breast MEC have not been fully investigated due to its rarity. We performed a...
Mammary mucoepidermoid carcinoma (MEC) is a rare entity. The molecular characteristics of breast MEC have not been fully investigated due to its rarity. We performed a retrospective study among 1000 patients with breast carcinomas and identified four cases of breast MEC. Clinical and demographic data were collected. Immunohistochemistry panels which were used to diagnose salivary gland MEC and breast carcinomas were also performed. MAML2 rearrangements were detected by FISH and fusion partners were identified by RNA sequencing. Whole-exome sequencing (WES) was used to reveal the genomes of these four breast MEC. Then, the biological functions and features of breast MEC were further compared with those of invasive breast carcinomas and salivary gland MEC.According to Ellis and Auclair's methods, these four breast MEC could be classified as low-grade breast MEC. All the patients were alive, and disease-free survival (PFS) ranged from 20 months to 67 months. Among these four breast MEC, two cases were triple-negative, and the other two cases were found to be ER positive, with one also showing HER2 equivocal by immunohistochemical staining, but no amplification in FISH. FISH analysis confirmed the presence of the MAML2 translocation in three of four tumors, and CRTC1-MAML2 fusion was confirmed in two of them by RNA-sequencing. The average coverage size of WES for the tumor mutation burden estimation was 32 Mb. MUC4, RP1L1 and QRICH2 mutations were identified in at least three tumors, and these mutation also existed in breast invasive carcinoma databases (TCGA, Cell 2015; TCGA, Nature 2012). The results showed that there were many genes in breast MEC overlapping with the breast invasive carcinoma databases mentioned above, range from 5 to 63 genes (median:21 genes). Next, we assessed immune cell infiltration levels in these tumors. In all these tumors, M2 macrophages and plasma cell were in the high infiltration group. Our breast MEC showed different results from the salivary gland MEC, whose plasma cells were in the low infiltration group. Overall, we first analyzed the genomics and tumor microenvironment of breast mucoepidermoid carcinoma and proposed our hypothesis that although MECs arising in the breast resemble their salivary gland counterparts phenotypically, our findings indicate that breast MECs probably resemble invasive breast carcinomas at the genetic level and immune cell infiltration levels. More cases and in deep research need to be done to further understand this rare carcinoma.
Topics: Humans; Female; DNA-Binding Proteins; Trans-Activators; Retrospective Studies; Carcinoma, Mucoepidermoid; Exome; Exome Sequencing; Tumor Microenvironment; Transcription Factors; Breast Neoplasms; Salivary Gland Neoplasms; Genomics; Sequence Analysis, RNA; Eye Proteins
PubMed: 38243319
DOI: 10.1186/s13000-024-01439-8 -
Annales de Pathologie Jan 2016"Salivary gland-type" tumors arising from the bronchi and lung are rare but not exceptional entities. They are mostly represented by malignant entities such as cystic... (Review)
Review
"Salivary gland-type" tumors arising from the bronchi and lung are rare but not exceptional entities. They are mostly represented by malignant entities such as cystic adenoid carcinoma, mucoepidermoid carcinoma and epithelial/myoepithelial carcinoma. Benign tumors are rare, mainly encompassing pleomorphic adenomas, which are to differentiate from mucous gland adenomas, another entity arising specifically from the peri-bronchial glands. These tumours develop in the proximal bronchi and are not associated with smoke abuse. Their main treatment is surgery. It is important to differentiate them from other broncho-pulmonary tumours as they do not share the same prognosis and therapeutic. This article will review the WHO 2015 classification of these tumours as well as recent updates from the literature to help define diagnosis criteria for these uncommon entities.
Topics: Adenocarcinoma; Adenoma, Pleomorphic; Biomarkers, Tumor; Carcinoma, Adenoid Cystic; Carcinoma, Mucoepidermoid; Cell Differentiation; Diagnosis, Differential; Humans; Lung Neoplasms; Myoepithelioma; Prognosis; Salivary Glands
PubMed: 26774826
DOI: 10.1016/j.annpat.2015.11.003 -
Oral Diseases May 2018MicroRNAs (miRNAs) are single-stranded RNAs that have been implicated in cancer initiation and progression and act as tumour suppressors or oncogenes. In this study,...
OBJECTIVES
MicroRNAs (miRNAs) are single-stranded RNAs that have been implicated in cancer initiation and progression and act as tumour suppressors or oncogenes. In this study, miRNA profiling was conducted on the most frequent malignancy of salivary glands, mucoepidermoid carcinoma (MEC), in comparison with normal tissues.
MATERIALS AND METHODS
The TaqMan Human miRNA Cards Array was used for the miRNA profiling of MEC and normal tissues. To validate the differentially expressed miRNAs in MEC, we used real-time PCR (qRT-PCR).
RESULTS
miR-302a was the most significantly increased miRNA in cancer tissues (p < .05). Here, we demonstrate that the upregulation of miR-302a expression in SGT cell lines induced cancer cell invasion in vitro.
CONCLUSIONS
These promising results suggest the need for further studies to establish mir-302a as a marker of invasion and aggressiveness in MEC.
Topics: Carcinoma, Mucoepidermoid; Cell Line, Tumor; Cell Movement; Gene Expression Profiling; Humans; MicroRNAs; Neoplasm Invasiveness; Oligonucleotide Array Sequence Analysis; RNA, Neoplasm; Salivary Gland Neoplasms; Up-Regulation
PubMed: 29095552
DOI: 10.1111/odi.12800 -
Medicine May 2023Mucoepidermoid carcinoma (MEC) is one of the most common malignant tumors in salivary glands, with specific histomorphological and molecular characteristics. MEC... (Review)
Review
RATIONALE
Mucoepidermoid carcinoma (MEC) is one of the most common malignant tumors in salivary glands, with specific histomorphological and molecular characteristics. MEC occurring in breast is more rare.
PATIENT CONCERNS
We reported 3 cases of female breast mass, diagnosed as benign nodules by ultrasound.
DIAGNOSES
The first 2 cases were pathological diagnosed as breast MEC, low grade, and the third case as breast MEC, medium grade.
INTERVENTIONS
After pathological diagnosis, 3 patients have expanded the scope of breast resection and lymph node dissection, with negative margin and no lymph node metastasis.
OUTCOMES
In the follow-up observation, the first case was followed up for 24 months, the second case was followed up for 30 months, and the third case was followed up for 12 months. All patients had a good prognosis without evidence of recurrence and metastasis.
CONCLUSION
Breast MEC is extremely rare and estrogen receptor, progesterone receptor, and human epidermal growth factor receptor-2 negative breast cancer with a good prognosis, which is different from other highly malignant triple-negative breast cancers. reviewed its clinicopathologic morphological characteristics, immunohistochemical markers and molecular characteristics, prognosis and clinical treatment through literature, in order to understanding its clinicopathology and providing reference for clinical precise treatment.
Topics: Humans; Female; Carcinoma, Mucoepidermoid; Prognosis; Salivary Glands; Breast Neoplasms; Lymphatic Metastasis
PubMed: 37144989
DOI: 10.1097/MD.0000000000033707 -
Ophthalmology Mar 2016
Topics: Biomarkers, Tumor; Carcinoembryonic Antigen; Carcinoma, Mucoepidermoid; Conjunctival Neoplasms; Eyelids; Humans; Keratin-7; Male; Middle Aged
PubMed: 26902565
DOI: 10.1016/j.ophtha.2016.01.016 -
Oral and Maxillofacial Surgery Jun 2024The aim of this study is to retrospectively evaluate the presentation of head and neck mucoepidermoid carcinoma at the Royal Melbourne Hospital and identify the...
OBJECTIVE
The aim of this study is to retrospectively evaluate the presentation of head and neck mucoepidermoid carcinoma at the Royal Melbourne Hospital and identify the significance of AFIP histological grading on the risk of neck metastasis and cancer free survival.
MATERIALS AND METHODS
This study is a retrospective cohort analysis of patients treated for head and neck mucoepidermoid carcinoma at the RMH between 2005 and 2022. Patient demographics, treatment, pathology, in particular the AFIP histological grading of the primary tumour, and outcomes were collected and tabulated. Time to recurrence was recorded, and survival outcomes were calculated with Kaplan-Meier method. Comparisons were made on different histological grading and regional metastases.
RESULTS
Thirty-three patients were identified and thirty met the inclusion criteria. There was an age range of 18-77 years (median 54 years) with no significant sex difference. Our patients had a 94% 5-year survival and an 86% 10-year survival. Thirteen patients had elective neck dissection and 2 out of 13 (15%) of the patients had positive neck disease. Of the two patients with regional metastasis, the primary tumour was graded as intermediate and low grade. No high-grade MEC patients had regional metastasis.
CONCLUSION
Mucoepidermoid carcinoma of the head and neck is associated with a good disease-specific and overall survival despite the presence of regional metastasis. The AFIP histological grading system did not have a statistically significant correlation to the incidence of nodal metastasis.
Topics: Humans; Carcinoma, Mucoepidermoid; Middle Aged; Adult; Lymphatic Metastasis; Male; Female; Aged; Retrospective Studies; Head and Neck Neoplasms; Adolescent; Neoplasm Grading; Young Adult; Neck Dissection; Neoplasm Recurrence, Local; Survival Rate
PubMed: 37344706
DOI: 10.1007/s10006-023-01163-5 -
PloS One 2015Pulmonary mucoepidermoid carcinoma (PMEC) is an uncommon neoplasm of the lung and the main salivary gland-type lung carcinoma. The aims of this study were to review the...
INTRODUCTION
Pulmonary mucoepidermoid carcinoma (PMEC) is an uncommon neoplasm of the lung and the main salivary gland-type lung carcinoma. The aims of this study were to review the clinicopathological and immunohistochemical features of PMEC and characterize the genetic events in PMEC.
METHODS
We reviewed the pathology cases in our hospital and found 34 initially diagnosed PMEC cases, 26 of which were confirmed as PMEC after excluding 8 cases of MEC-like pulmonary carcinoma. The clinicopathological characteristics of the 26 PMEC cases and the 8 cases of MEC-like pulmonary carcinoma were retrospectively reviewed. MAML2 rearrangement was detected by fluorescence In Situ Hybridization (FISH). Immunostains of ALK, calponin, collagen IV, CK7, EGFR, HER2, Ki-67, Muc5Ac, p63, p40, and TTF-1 were performed. DNA was extracted from 23 cases of PMEC. Mutation profiling of the EGFR, KRAS, BRAF, ALK, PIK3CA, PDGFRA, and DDR2 genes were carried out using next-generation sequencing (NGS), Sanger sequencing, and quantitative polymerase chain reaction (QPCR) in 9 successfully amplified cases.
RESULTS
Twenty-six cases of PMEC (18 low-grade, 8 high-grade) included 13 men and 13 women aged 12-79 years. Twenty-two cases had a central/endobronchial growth pattern, and 4 cases had a peribronchial growth pattern. Immunohistochemically, CK7, Muc5Ac, p40, and p63 were positive in all cases (26/26);EGFR was positive in 11 cases (11/26); TTF-1, Calponin, HER2 and ALK were negative in all cases (0/26). MAML2 rearrangement was identified in 12 of 18 PMEC cases. No mutations were detected in any of the 7 genes in the 9 cases that qualified for mutation analysis. Twenty-three PMEC patients had follow-up information with a median interval of 32.6 months. Both the 5- and 10-year overall survival rates (OS) were 72.1%, and a high-grade tumor was an adverse prognostic factor in PMEC. There were 8 cases of MEC-like pulmonary carcinoma aged 36-78 years: 2 cases were located in the bronchus, and 6 cases were located in the lung. p63 and TTF-1 were positive in all cases (8/8), p40 was positive in 5 cases (5/8), and ALK was positive in 5 cases (5/8). No cases of MAML2 rearrangement were detected, but there were 5 cases of ALK rearrangement.
CONCLUSIONS
PMEC is a primary malignant pulmonary tumor with a relatively good prognosis that is historically characterized by the presence of mucous cells and a lack of keratinization. There are distinct differences between PMEC and MEC-like pulmonary carcinoma in tumor location preference, immunophenotype, and molecular genetics, and the differential diagnosis is critical due to the therapeutic and prognostic considerations.
Topics: Adolescent; Adult; Aged; Biomarkers, Tumor; Carcinoma, Mucoepidermoid; Child; DNA, Neoplasm; DNA-Binding Proteins; Female; High-Throughput Nucleotide Sequencing; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Lung Neoplasms; Male; Middle Aged; Mutation; Neoplasm Staging; Nuclear Proteins; Prognosis; Real-Time Polymerase Chain Reaction; Retrospective Studies; Sequence Analysis, DNA; Survival Rate; Trans-Activators; Transcription Factors; Young Adult
PubMed: 26575266
DOI: 10.1371/journal.pone.0143169 -
Ophthalmic Plastic and Reconstructive...
Topics: Adolescent; Carcinoma, Mucoepidermoid; Eyelid Neoplasms; Eyelids; Humans
PubMed: 35561114
DOI: 10.1097/IOP.0000000000002083 -
Endocrine Pathology Mar 2023Mucoepidermoid carcinoma (MEC) and sclerosing MEC with eosinophilia (SMECE) are rare primary thyroid carcinomas. In this study, we aimed to present our multicenter...
Primary Thyroid Mucoepidermoid Carcinoma (MEC) Is Clinically, Prognostically, and Molecularly Different from Sclerosing MEC with Eosinophilia: A Multicenter and Integrated Study.
Mucoepidermoid carcinoma (MEC) and sclerosing MEC with eosinophilia (SMECE) are rare primary thyroid carcinomas. In this study, we aimed to present our multicenter series of MEC and SMECE and integrated our data with published literature to further investigate the clinicopathological characteristics and prognoses of these tumors. We found 2 MECs and 4 SMECEs in our multicenter archives. We performed fluorescence in situ hybridization (FISH) to determine the MAML2 gene rearrangement. We screened for mutations in BRAF, TERT promoter, and RAS mutations using Sanger sequencing and digital polymerase chain reaction. Histopathologically, MECs and SMECEs were composed of two main cell types including epidermoid and mucin-secreting cells, arranged in cords, nests, and tubules. SMECEs were characterized by a densely sclerotic stroma with abundant eosinophils. We did not detect any MAML2 fusion in any of our cases. Two MEC cases harbored concomitant BRAF p.V600E and TERT C228T mutations. RAS mutations were absent in all cases. Concurrent foci of another thyroid malignancy were more commonly seen in MECs (p < 0.001), whereas SMECEs were associated with chronic lymphocytic thyroiditis (p < 0.001). MECs and SMECEs had equivalent recurrence-free survival (RFS) but MECs conferred significantly dismal disease-specific survival (DSS) as compared to SMECEs (p = 0.007). In conclusion, MECs and SMECEs not only shared some similarities but also demonstrated differences in clinicopathological characteristics, prognoses, and molecular profiles. SMECEs had a superior DSS in comparison to MECs, suggesting that they are low-grade cancers. This could help clinicians better evaluate patient outcomes and decide appropriate treatment plans.
Topics: Humans; Thyroid Gland; Carcinoma, Mucoepidermoid; In Situ Hybridization, Fluorescence; Proto-Oncogene Proteins B-raf; Transcription Factors; Eosinophilia
PubMed: 36394696
DOI: 10.1007/s12022-022-09741-1 -
Laryngo- Rhino- Otologie Mar 2020Mucoepidermoid carcinoma is the most common primary salivary gland malignancy and its tumor grading has an important prognostic significance. The 5 year overall survival...
Mucoepidermoid carcinoma is the most common primary salivary gland malignancy and its tumor grading has an important prognostic significance. The 5 year overall survival rate is significantly higher for low grade mucoepidermoid carcinomas than for intermediate grade and high grade mucoepidermoid carcinomas. The translocation of t(11;19)(q21;p13) with the resulting CRTC1-MAML2 transfusion appears to be of prognostic relevance in patients with mucoepidermoid carcinoma. The translocation is detectable in 38-82 % of all mucoepidermoid carcinomas. Study results have shown a significantly better prognosis for patients with fusion-positive mucoepidermoid carcinomas than fusion-negative mucoepidermoid carcinomas. The t(11;19)(q21;p13) translocation can be found more often in low and intermediate grade mucoepidermoid carcinomas than in high grade tumors of the same entity. Moreover, fusion positive mucoepidermoid carcinoma were found more frequently in younger patients, smaller tumors, lower tumor stages and less frequently lymph node and distant metastases. Up to now, the translocation has not been of therapeutic importance. In selected cases, the lack of t(11;19)(q21;p13) translocation might facilitate the decision towards further escalation of therapy. More studies will be necessary to evaluate the individual prognostic and therapeutic value of CRTC1-MAML2 transfusion.
Topics: Carcinoma, Mucoepidermoid; Humans; Pathology, Molecular; Prognosis; Salivary Gland Neoplasms; Transcription Factors
PubMed: 32120437
DOI: 10.1055/a-1083-6805