-
Genes, Chromosomes & Cancer Oct 2023Herein we report a case of an intraosseous myoepithelial carcinoma harboring a EWSR1::PBX3 fusion gene. The patient was a 64-year-old male found to have a 7 cm...
Herein we report a case of an intraosseous myoepithelial carcinoma harboring a EWSR1::PBX3 fusion gene. The patient was a 64-year-old male found to have a 7 cm destructive lesion in the distal ulna with an extraosseous soft tissue component. Microscopic examination of the resected tumor showed a spindle-cell lesion within a sclerotic stroma and intravascular tumor emboli. At higher power the tumor cells showed moderate nuclear atypia with a high mitotic count (20 per mm ). Immunohistochemistry revealed diffuse EMA positivity and focal pancytokeratin (AE1/AE3) and S100 expression, consistent with myoepithelial differentiation. NGS using the Oncomine Childhood Cancer Assay (Thermo Fisher Scientific, Inc.) revealed a EWSR1-PBX3 fusion and ABL amplification. The patient subsequently developed local recurrence as well as distant lymph node, lung and vertebral metastases; he is currently awaiting systemic treatment in the context of a clinical trial. In this report, we present a rare case of a skeletal myoepithelial tumor harboring a EWSR1::PBX3 fusion with demonstrated histological and clinical features of malignancy.
Topics: Humans; Male; Middle Aged; Biomarkers, Tumor; Bone Neoplasms; Carcinoma; Gene Fusion; Myoepithelioma; Neoplasms, Connective and Soft Tissue; RNA-Binding Protein EWS
PubMed: 37129228
DOI: 10.1002/gcc.23148 -
American Journal of Ophthalmology Case... Jun 2019To report a case of presumed choroidal metastasis from soft tissue myoepithelial carcinoma and highlight challenges in its diagnosis.
PURPOSE
To report a case of presumed choroidal metastasis from soft tissue myoepithelial carcinoma and highlight challenges in its diagnosis.
OBSERVATIONS
A 52-year-old man was referred with a two-week history of photopsia in his left eye. His background medical history included known soft tissue myoepithelial carcinoma metastatic to his bone, lung, liver and chest wall. A large, raised, yellow choroidal lesion was identified nasal to and abutting the optic disc. This lesion demonstrated growth 1 month after presentation. The patient died with widespread metastatic disease 5 months after initial presentation.
CONCLUSION AND IMPORTANCE
Soft tissue myoepithelial carcinoma can rarely metastasise to the choroid and present as a rapidly-growing, yellow, echodense tumour with serous retinal detachment. MRI brain can assist in tumour evaluation and monitoring progression, while immunoperoxidase stains and molecular testing can assist with diagnosis. The condition has an aggressive natural history and poor prognosis.
PubMed: 30886937
DOI: 10.1016/j.ajoc.2019.02.009 -
BMJ Case Reports Oct 2019Myoepithelioma is rare benign neoplasm, usually involves salivary glands and very less often seen in minor salivary glands of nose. Clinically it resembles like other...
Myoepithelioma is rare benign neoplasm, usually involves salivary glands and very less often seen in minor salivary glands of nose. Clinically it resembles like other tumour masses and thus posed challenge to clinician and pathologist. It becomes very difficult to diagnose due to its varied presentation and propensity for malignant transformation. We reported a case of a male patient with pink fleshy mass in the left nose with epistaxis and nasal obstruction. Preliminary biopsy and contrast-enhanced CT were done to delineate tumour size and type and then patient underwent endoscopic en-bloc resection. Histopathology and immunohistochemistry were found to be consistent for myoepithelioma. No recurrence was seen during a 6-month follow-up period. Its rarity should be a part of differential diagnosis among nasal tumours. Many of the tumour recurrences are associated with incomplete surgical resection so wide local excision with regular follow-up is essential for this rare entity.
Topics: Adult; Diagnosis, Differential; Endoscopy; Epistaxis; Humans; Male; Myoepithelioma; Nasal Obstruction; Nasal Septum; Nose Neoplasms; Salivary Gland Neoplasms; Salivary Glands, Minor
PubMed: 31653626
DOI: 10.1136/bcr-2019-230926 -
Experimental Biology and Medicine... May 2018An increasing number of patients with parotid gland tumors have been observed in recent years. The relationship between the immune system and tumor formation is... (Clinical Trial)
Clinical Trial
An increasing number of patients with parotid gland tumors have been observed in recent years. The relationship between the immune system and tumor formation is thoroughly investigated. However, newly discovered molecules offer a new insight into the pathophysiology of malignancies. It would be ideal to find an easily determinable biomarker of tumor existence, its malignant potential or a biomarker suggesting the probability of disease recurrence. Our study is the first to examine serum concentrations of IL-33 and its sST2 receptor in patients with various types of parotid gland tumors. Serum IL33, sST2, IL-4 and IL-10 concentrations were determined in patients with benign and malignant parotid gland tumors (pleomorphic adenoma, Warthin's tumor, myoepithelioma and acinic cell carcinoma). We observed for the first time that serum IL-33 level was significantly elevated in patients with various types of parotid gland tumors and sST2 levels were significantly higher in pleomorphic adenoma and acinic cell carcinoma patients compared to the controls. Our results demonstrate for the first time that serum IL-33 and its sST2 receptor may be important factors in the pathology of parotid gland tumors. Although our results are promising, further investigations are required to detect if serum concentrations of those molecules may be a biomarker in parotid gland tumors. Impact statement Parotid gland tumors seem to be an increasingly important medical challenge, mostly due to a noticeable increase in the incidence. It would be crucial to find an easily determinable biomarker of tumor existence, its recurrence or malignant potential. We observed for the first time that serum IL-33 level was significantly elevated in patients with various types of parotid gland tumors and its sST2 receptor levels were significantly higher in pleomorphic adenoma and acinic cell carcinoma patients compared to the controls. We believe that our study helps to understand the biology of the tumors and a potential role of a relatively newly identified cytokine IL-33 in the pathophysiology of the parotid gland tumors.
Topics: Adenoma, Pleomorphic; Aged; Biomarkers, Tumor; Carcinoma, Acinar Cell; Female; Humans; Interleukin-1 Receptor-Like 1 Protein; Interleukin-33; Male; Middle Aged; Neoplasm Proteins; Parotid Neoplasms; Prospective Studies
PubMed: 29763370
DOI: 10.1177/1535370218774539 -
Salivary gland tumor incidence in adult patients in a tertiary hospital in Mexico from 2008 to 2019.Cirugia Y Cirujanos 2023To determine the incidence of salivary gland tumors in a population of a tertiary hospital in the State of Mexico, and to describe demographic variables. (Observational Study)
Observational Study
OBJECTIVE
To determine the incidence of salivary gland tumors in a population of a tertiary hospital in the State of Mexico, and to describe demographic variables.
METHOD
An observational, cross-sectional and retrospective study of salivary gland tumors reported in a tertiary hospital in the State of Mexico in the period 2008-2019 is presented.
RESULTS
A prevalence of 0.049% was found. There was no difference between sex in the studied population. Benign salivary gland tumors were the most frequent (86.7%). The age range most affected was 51-60 years. The most frequently found tumor was the pleomorphic adenoma, followed by Warthin's tumor. There was 13.33% of sialolipomas, and one myoepithelioma. There were no cases of sublingual gland tumors or minor salivary glands.
CONCLUSION
Tumors of the major salivary glands are infrequent tumors; population cases from a central Mexican state and their demographic characteristics are presented to contribute to the information found in local and international literature.
Topics: Humans; Adult; Middle Aged; Mexico; Tertiary Care Centers; Cross-Sectional Studies; Incidence; Retrospective Studies; Salivary Gland Neoplasms
PubMed: 37677957
DOI: 10.24875/CIRU.21000414 -
Diagnostic and Interventional Radiology... Jul 2019Early enhancement and a washout pattern are reported to be the characteristic imaging features of Warthin tumor (WT). The purpose of this study was to evaluate the... (Comparative Study)
Comparative Study
PURPOSE
Early enhancement and a washout pattern are reported to be the characteristic imaging features of Warthin tumor (WT). The purpose of this study was to evaluate the enhancement patterns of basal cell adenoma (BCA) and myoepithelioma (ME) of the parotid gland on two-phase computed tomography (CT), compared with WT.
METHODS
We retrospectively evaluated two-phase CT examinations of histologically proven 19 BCAs, 12 MEs, and 23 WTs of the parotid gland. In all patients, CT scans were obtained at early and delayed phases with scanning delays of 40 and 180 s, respectively. We measured the attenuation values on each phase of CT scans and calculated washout attenuation and relative percentage enhancement washout ratio. From the data acquired, we statistically compared the enhancing characteristics among three tumor groups.
RESULTS
Based on the results of washout attenuation and relative percentage enhancement washout ratio, 15 (79%) of 19 BCAs, 9 (75%) of 12 MEs, and 23 (100%) of 23 WTs demonstrated a washout pattern of enhancement on two-phase CT scans. Despite variations of the individual tumors, both parameters revealed no significant difference among three tumor groups.
CONCLUSION
BCAs and MEs of the parotid gland frequently show early enhancement and a washout pattern on two-phase CT, which can be indistinguishable from WTs in the majority of cases.
Topics: Adenolymphoma; Adenoma; Adult; Aged; Contrast Media; Female; Humans; Male; Middle Aged; Myoepithelioma; Parotid Gland; Parotid Neoplasms; Radiographic Image Enhancement; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 31120425
DOI: 10.5152/dir.2019.18337 -
Genes, Chromosomes & Cancer May 2015Myoepithelial (ME) tumors of soft tissue and bone display a heterogeneous histologic spectrum and in about half of the cases harbor EWSR1 gene rearrangements. Despite...
Myoepithelial (ME) tumors of soft tissue and bone display a heterogeneous histologic spectrum and in about half of the cases harbor EWSR1 gene rearrangements. Despite rare case reports, the prevalence of fused in sarcoma (FUS) gene abnormalities and its related fusion partners remains undetermined among ME tumors. Therefore, we screened 66 EWSR1-negative ME tumors for FUS abnormalities by fluorescence in situ hybridization (FISH). In an index FUS-rearranged case, 3'-rapid amplification of cDNA ends (RACE) was applied to identify the fusion partner. Results were further confirmed by reverse transcription-PCR, followed by FISH screening the entire cohort of FUS-rearranged and EWSR1-positive ME lesions lacking a known fusion partner. The correlation between genotype and clinicopathological features was also investigated. As a result, six (9%) FUS-rearranged cases were identified, spanning divergent age groups, tumor locations, and morphologic features. A novel FUS-KLF17 fusion was identified by 3'-RACE in an 11-year-old girl with a foot lesion associated with locoregional metastases. Three additional cases with FUS-KLF17 fusions were identified and one KLF17 rearrangement (6.3%) was found among the 16 EWSR1-positive cases tested. The KLF17-related ME tumors affected younger patients and often exhibited trabecular growth in a myxohyaline stroma, but this genotype did not correlate with a malignant phenotype. In conclusion, a small subset of ME tumors harbor FUS rearrangements, two thirds of them being associated with KLF17 fusion. FUS FISH analysis is recommended in EWSR1-negative lesions in which a ME diagnosis is suspected. KLF17 is also a rare gene fusion partner to EWSR1-rearranged ME tumors.
Topics: Adolescent; Adult; Calmodulin-Binding Proteins; Child; Cohort Studies; Female; Humans; Male; Middle Aged; Myoepithelioma; Oncogene Fusion; RNA-Binding Protein EWS; RNA-Binding Protein FUS; RNA-Binding Proteins; Transcription Factors; Young Adult
PubMed: 25706482
DOI: 10.1002/gcc.22240 -
The American Journal of Surgical... May 2019Myoepithelial carcinoma (MECA) is an underrecognized challenging entity with a broad morphologic spectrum. Misinterpreting MECA is not uncommon as distinguishing it from...
Myoepithelial carcinoma (MECA) is an underrecognized challenging entity with a broad morphologic spectrum. Misinterpreting MECA is not uncommon as distinguishing it from its mimics, especially cellular myoepithelial-rich pleomorphic adenoma (PA), can be difficult. We described 21 histologically challenging cases of MECAs (16 MECA ex-PA and 5 MECA de novo). All MECAs ex-PA were intracapsular or minimally invasive except for 3 cases. Eighteen (86%) were initially misinterpreted as benign neoplasms, including PA (10), atypical PA (5), and myoepithelioma (3). The remaining 3 were initially diagnosed as malignant (MECA ex-PA) but were histologically challenging. Histologic features that were found most helpful in recognizing the malignant nature of MECA included: uniformly cellular myoepithelial proliferation with an expansile nodular lobulated pattern (all cases) and alternate hypocellular and hypercellular zonal distribution (76% of cases). Among the 16 MECA patients with follow-up, 14 (87.5%) progressed: 10 developed local recurrence and 5 distant metastases. In contrast, only one of 33 patients with cellular PA (control group) recurred locally. Ten of the 14 MECAs that progressed were MECA ex-PA, and 12 (85%) had an initial benign diagnosis. Two patients with MECA ex-PA died of their disease; one had an initial diagnosis of PA. MECA is a histologically challenging entity that closely mimics PA and seems to carry a significant risk of recurrence. Areas of clonal appearing cellular myoepithelial growth with an expansile nodular lobulated pattern and zonal cellular distribution distinguish the majority of MECAs and may serve as useful diagnostic histologic features to differentiate MECA from its benign mimics.
Topics: Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Biopsy; Carcinoma; Case-Control Studies; Cell Proliferation; Diagnostic Errors; Disease Progression; Female; Humans; Male; Middle Aged; Myoepithelioma; Neoplasm Invasiveness; Neoplasm Recurrence, Local; New York City; Ontario; Predictive Value of Tests; Salivary Gland Neoplasms; Time Factors; Treatment Outcome
PubMed: 30789358
DOI: 10.1097/PAS.0000000000001218 -
Case Reports in Otolaryngology 2017. The myoepithelioma is a rare benign tumor, most frequently found in the salivary glands. The extrasalivary gland involvement is even rarer and few cases involving the...
. The myoepithelioma is a rare benign tumor, most frequently found in the salivary glands. The extrasalivary gland involvement is even rarer and few cases involving the nasal cavity have been reported in the literature. . MES, a 54-year-old woman, complaining of progressive nasal obstruction and mild epistaxis through the right nostril which had developed 1 year previously. Computed tomography scan showed tumor with heterogeneous contrast enhancement occupying the right nasal cavity, moving contralaterally in the nasal septum. Excisional biopsy was performed through endoscopic surgery of the mass that was inserted at the nasal septum. Pathological and immunohistochemical exams concluded myoepithelioma. . The main symptoms of nasal myoepitheliomas are nasal obstruction and epistaxis. Immunohistochemistry is necessary to confirm the diagnosis, typically positive for cytokeratin and S-100, calponin, smooth muscle actin, myosin, vimentin, glial fibrillary acidic protein (GFAP), and carcinoembryonic antigen. The main marker for myoepithelioma is the S-100 protein. In our case, it was positive for cytokeratin, S-100, calponin, actin smooth muscle, and GFAP. In all cases reported in the literature surgical treatment was performed and the recurrence was associated with incomplete tumor resection. . The myoepithelioma is a rare differential diagnosis of nasal tumors and its treatment is the total lesion excision.
PubMed: 28168074
DOI: 10.1155/2017/7057989 -
Journal of Cancer Research and... 2022Primary epithelial-myoepithelial carcinoma (EMC) is a rare low-grade malignant neoplasm of the lung that originates from the submucosal bronchial glands. It behaves in...
Primary epithelial-myoepithelial carcinoma (EMC) is a rare low-grade malignant neoplasm of the lung that originates from the submucosal bronchial glands. It behaves in an indolent fashion, although rare cases with high-grade transformation have been reported. Because of the rarity, optimal therapy for this entity has not been clearly defined. Herein, we report a case of primary pulmonary EMC in a 38-year-old Indian man who had a short history of dyspnea and a computed tomographic (CT) scan revealed a 3 cm diameter homogeneous mass in the lower lobe of the right lung. A CT-guided biopsy revealed a mildly atypical and mitotically quiescent tumor with solid and focal acinar arrangement; foci with biphasic arrangement by inner epithelial and outer myoepithelial cells were identified. The neoplasm revealed cytokeratin (CK) 7 positivity in the epithelial cells, while the myoepithelium expressed smooth muscle actin and p63. The tumor had a low (8%) Ki-67 proliferation index. The neuroendocrine markers, thyroid transcription factor 1, CK5/6, p40, and napsin A were negative. Positron emission tomography-CT was negative for any other mass lesion. The mass was excised with negative margins and the patient was on close follow without any evidence of disease for the past 17 months. A custom made, targeted DNA- and RNA-based 5 gene lung cancer next-generation sequencing panel (Epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), Ros protocol-oncogene 1 tyrosine kinase (ROS1), B-rapidly accelerated fibrosarcoma family oncogene (BRAF), and mesenchymal epithelial transition molecule (MET)), compatible with the Ion S5 system was performed; however, no mutation was identified. This case depicts awareness about this entity and use of appropriate immunostains, particularly the myoepithelial markers are essential to arrive at a correct diagnosis. Importantly, high-grade transformation, recurrence, and metastases are not very uncommon in EMC, warranting a correct and timely diagnosis for therapeutic decision-making and prognostication of the patient.
Topics: Adult; Carcinoma; Humans; Lung; Lung Neoplasms; Male; Myoepithelioma; Protein-Tyrosine Kinases; Proto-Oncogene Proteins
PubMed: 35900560
DOI: 10.4103/jcrt.JCRT_559_20