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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 -
International Journal of Surgical... May 2015Androgen receptor (AR) is usually expressed in salivary duct carcinoma (SDC), but only infrequently in other carcinoma types including mucoepidermoid carcinoma (MEC).... (Review)
Review
Androgen receptor (AR) is usually expressed in salivary duct carcinoma (SDC), but only infrequently in other carcinoma types including mucoepidermoid carcinoma (MEC). The clinicopathological characteristics of AR-positive MEC remain to be clarified. Here we report a case of AR-positive MEC. A 76-year-old man presented with a growing painless tumor of the right parotid. The resected tumor was a high-grade tumor with necroses. Since the tumor was positive for AR, GCDFP-15, and HER2, SDC was first suspected, but it was also positive for CK5/6 and P63, and negative for S-100 protein and α-smooth muscle actin. In addition, scattered mucous secreting tumor cells were found in the tumor nests, and they were positive for Alcian blue. A diagnosis of AR-positive MEC was finally made. The patient died of the tumor 5 years after the surgery. The present case may expand the histopathological spectrum of high-grade MEC.
Topics: Aged; Biomarkers, Tumor; Carcinoma, Mucoepidermoid; Humans; Immunohistochemistry; Male; Parotid Neoplasms; Receptors, Androgen
PubMed: 25559272
DOI: 10.1177/1066896914565024 -
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 -
ORL; Journal For Oto-rhino-laryngology... 2019The importance of adjuvant radiotherapy in patients with close margin resections for mucoepidermoid carcinoma of the parotid gland remains unclear.
BACKGROUND/AIMS
The importance of adjuvant radiotherapy in patients with close margin resections for mucoepidermoid carcinoma of the parotid gland remains unclear.
METHODS
Patients who underwent parotidectomy for mucoepidermoid carcinoma with or without adjuvant radiotherapy at a single academic tertiary care center from 2000 to 2014 were identified. Included patients had negative but close (≤2 mm) surgical margins without other high-risk histopathological factors including advanced T-stage, positive nodal disease, lymphovascular or perineural invasion, or high-grade histology.
RESULTS
Nineteen patients were identified, of whom 15 (79%) were observed postoperatively, while 4 (21%) underwent adjuvant radiotherapy. There were no significant differences in extent of parotidectomy, elective neck dissection, T staging, or tumor size between patients who were observed and those undergoing adjuvant radiation. There were no locoregional or distant recurrences in any patients at a mean follow up 74.3 months. Patients undergoing adjuvant radiation, however, had significantly more intermediate-grade as compared to low-grade histology (75% vs. 13%, difference 62%, 95% CI 4% to 100%).
CONCLUSIONS
Patients with negative but close (≤2 mm) surgical margins without other high-risk histopathological factors have excellent long-term locoregional control with surgery alone. The effects of adjuvant radiotherapy for those who have intermediate-grade disease remain uncertain.
Topics: Aged; Carcinoma, Mucoepidermoid; Female; Humans; Male; Margins of Excision; Middle Aged; Neoplasm Staging; Parotid Neoplasms; Radiotherapy, Adjuvant; Retrospective Studies; Treatment Outcome
PubMed: 30939481
DOI: 10.1159/000497438 -
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 -
Pathology International Jul 2022Non-sebaceous lymphadenoma is a rare benign salivary gland tumor comprised of non-sebaceous epithelial cells and lymphoid tissue. Although its clinicopathological...
Non-sebaceous lymphadenoma is a rare benign salivary gland tumor comprised of non-sebaceous epithelial cells and lymphoid tissue. Although its clinicopathological features have been described, its histogenesis and genetic background have not yet been elucidated. MAML2 rearrangement and the resultant CRTC1/3-MAML2 fusion gene are well-known specific genetic changes in mucoepidermoid carcinoma. Here, we present a case of lymphoepithelial tumor characterized by histomorphology of the non-sebaceous lymphadenoma and CRTC1-MAML2 fusion gene. The patient was an 83-year-old woman with an 8-year history of a solid, well-circumscribed tumor in the parotid gland. Histologically, the tumor was surrounded by thin fibrous connective tissue and was composed of tubular-cystic and solid nests of epithelial cells equally distributed in the lymphoid tissue. The histological features were suggestive of non-sebaceous lymphadenoma. Although the histomorphology was not consistent with mucoepidermoid carcinoma, a diagnosis of non-sebaceous lymphadenoma-like mucoepidermoid carcinoma was made based on the presence of the CRTC1-MAML2 fusion gene. The histological features alone could not establish the diagnosis, and ancillary molecular analysis was required.
Topics: Aged, 80 and over; Carcinoma, Mucoepidermoid; DNA-Binding Proteins; Female; Humans; Nuclear Proteins; Salivary Gland Neoplasms; Trans-Activators
PubMed: 35596702
DOI: 10.1111/pin.13236 -
The British Journal of Oral &... Jan 2023Salivary gland tumours (SGT) demonstrate geographical variation. The primary objective of this study was to determine the types, frequency, distribution, and... (Review)
Review
Salivary gland tumours (SGT) demonstrate geographical variation. The primary objective of this study was to determine the types, frequency, distribution, and demographics of non-neoplastic and neoplastic salivary gland pathology at Waikato Hospital, New Zealand (NZ) over a 10-year period. Following this we conducted a 10-year retrospective review of SGT epidemiology from international literature. In total 825 patients were identified, 31% (256/825) with non-neoplastic salivary gland pathology, 34% (284/825) with benign neoplastic pathology, 14% (118/825) with primary malignant lesions, 18% (146/825) with metastatic SGTs, and 3% (21/825) with lymphoma. Patients had a mean (range) age of 58 (3-102) years, were predominantly male (58%, 476/825), and NZ European (65%, 536/825). Tumours were most prevalent in the parotid gland (85%, 484/569), of which 44% (211/484) were malignant. Pleomorphic adenoma was the most common benign (71%, 203/284) and overall (36%, 203/569) tumour, while mucoepidermoid carcinoma (25%, 29/118) and squamous cell carcinoma (SCC) (73%, 106/146) were the most common primary malignant and metastatic SGTs, respectively. Our literature review identified 18 studies consisting of 33,933 patients, of whom 71% (24,013/33,933) had benign SGTs. Pleomorphic adenoma (68%, 16404/24013) and mucoepidermoid carcinoma (29%, 2826/9621) were the most common benign and malignant SGTs, respectively. Low numbers of non-neoplastic and metastatic SGTs were reported in the literature. This research provides a greater understanding of differences in their global distribution. Consistent with previous literature, pleomorphic adenoma and mucoepidermoid carcinoma were the most common benign and malignant SGTs. In NZ, we found high rates of malignant SCC to the parotid gland, consistent with the epidemiology of non-melanoma skin cancer in the country.
Topics: Humans; Male; Middle Aged; Aged; Aged, 80 and over; Female; Adenoma, Pleomorphic; Carcinoma, Mucoepidermoid; Salivary Gland Neoplasms; Parotid Gland; Carcinoma, Squamous Cell; Retrospective Studies
PubMed: 36623970
DOI: 10.1016/j.bjoms.2022.11.281 -
BMJ Case Reports Nov 2022Thyroid mucoepidermoid carcinoma (MEC) is a rare thyroid malignancy first documented in 1977. The majority of thyroid MECs are indolent, low-grade tumours with excellent...
Thyroid mucoepidermoid carcinoma (MEC) is a rare thyroid malignancy first documented in 1977. The majority of thyroid MECs are indolent, low-grade tumours with excellent prognosis. A woman in her 60s presented with an ongoing sensation of a lump in the left neck. There were no swallowing, voice or airway concerns. Ultrasound of the neck showed an enlarged thyroid with U5 and U3 features on the right and left lobes, respectively. Right fine needle aspiration cytology (FNAC) demonstrated certain features of Hurthle cell or anaplastic carcinoma (Thy5). Left FNAC showed Hurthle cell changes with atypical cells and prominent nucleoli (Thy3a). Following total thyroidectomy, histopathology revealed synchronous right low-grade MEC and left papillary thyroid microcarcinomas (pT2(m) N0 M0) on a background of Hashimoto's thyroiditis. This case adds to the literature and details the key histopathological features for a rare but important differential in patients with thyroid carcinoma due to synchronous histological types.
Topics: Female; Humans; Carcinoma, Mucoepidermoid; Thyroid Neoplasms; Biopsy, Fine-Needle
PubMed: 36414338
DOI: 10.1136/bcr-2022-252117 -
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 -
International Journal of Surgical... Oct 2020Mucoepidermoid carcinoma is one of the most common malignancies in salivary glands. In comparison, breast mucoepidermoid carcinoma is a very rare entity, with limited... (Review)
Review
Mucoepidermoid carcinoma is one of the most common malignancies in salivary glands. In comparison, breast mucoepidermoid carcinoma is a very rare entity, with limited reports and understanding of its clinical behaviors to date. In this article, we report a case of low-grade breast mucoepidermoid carcinoma of a 60-year-old female patient. Histologic and immunohistochemical patterns were demonstrated. Fluorescence in situ hybridization test was also conducted to identify rearrangement in this case, indicating a similar molecular abnormality as mucoepidermoid carcinoma in the salivary gland. Five-year follow-up of the patient showed no local recurrence or distant metastasis of the carcinoma, indicating the indolent behavior of low-grade breast mucoepidermoid carcinoma. Besides, a 40-year literature review from 1979 to 2019 was also performed to better characterize the prognosis and molecular abnormalities of the lesion.
Topics: Breast Neoplasms; Carcinoma, Mucoepidermoid; Female; Gene Rearrangement; Humans; Middle Aged; Trans-Activators
PubMed: 32362174
DOI: 10.1177/1066896920916779