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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 -
Medicina (Kaunas, Lithuania) Mar 2023We present a rare case of myoepithelioma in the subcutaneous layer of the shoulder with ultrasonography (US) and magnetic resonance imaging (MRI). US showed a lobulated...
We present a rare case of myoepithelioma in the subcutaneous layer of the shoulder with ultrasonography (US) and magnetic resonance imaging (MRI). US showed a lobulated hyperechoic mass, leading to an impression of lipoma. MRI showed the mass with low signal intensity on T1-weighted images (T1WI), high signal intensity on fat-suppressed T2-weighted images (T2WI), intermediate signal intensity on T2WI, and intense enhancement with adjacent fascial thickening. Imaging findings of soft tissue myoepithelioma have not been established. We report its US and MRI features mimicking features from a lipomatous tumor to infiltrative malignancy. Although soft tissue myoepithelioma has nonspecific image findings to confirm its diagnosis, some findings may help to make the differential diagnosis. Preoperative pathologic confirmation is recommended in a soft tissue neoplasm.
Topics: Humans; Myoepithelioma; Diagnosis, Differential; Magnetic Resonance Imaging; Upper Extremity
PubMed: 37109625
DOI: 10.3390/medicina59040667 -
Head and Neck Pathology Mar 2023Myoepithelial neoplasms of the salivary gland are benign or malignant neoplasms composed exclusively of neoplastic myoepithelial cells. These tumors, including the... (Review)
Review
BACKGROUND
Myoepithelial neoplasms of the salivary gland are benign or malignant neoplasms composed exclusively of neoplastic myoepithelial cells. These tumors, including the benign myoepithelioma and the malignant counterpart myoepithelial carcinoma, exhibit a wide range of cytomorphologic features and architectural patterns.
METHODS
Review.
RESULTS
Myoepithelial cells can be epithelial, plasmacytoid, clear cell, spindle cell, and/or oncocytic cell, arranging as trabeculae, solid sheets, nests, cords, and/or single cells. A stromal component is commonly but not universally present, Therefore, their differential diagnoses are quite broad, including salivary gland neoplasms especially those with a myoepithelial component, plasmacytoma, melanoma, and various mesenchymal tumors.
CONCLUSION
In this review, we summarize the characteristic histologic features, useful immunohistochemical panel, and common molecular alterations of myoepithelial tumors and their top differential diagnoses. A logical stepwise algorithmic approach and an immunohistochemical panel to include multiple myoepithelial markers are essential to establish the correct diagnosis.
Topics: Humans; Biomarkers, Tumor; Immunohistochemistry; Salivary Gland Neoplasms; Salivary Glands; Myoepithelioma; Carcinoma
PubMed: 36928733
DOI: 10.1007/s12105-022-01502-0 -
Surgical Neurology International 2023Myoepithelial tumors have been widely described as a rare form of salivary gland neoplasm, although currently soft-tissue phenotypes have also been identified. These are...
BACKGROUND
Myoepithelial tumors have been widely described as a rare form of salivary gland neoplasm, although currently soft-tissue phenotypes have also been identified. These are tumors composed entirely of myoepithelial cells that exhibit a dual epithelial and smooth muscle phenotype. The occurrence of myoepithelial tumors within the central nervous system is also extremely rare, with only a few cases reported. Treatment options include surgical resection, chemotherapy, radiotherapy, or a combination of these approaches.
CASE DESCRIPTION
The authors present a case of soft-tissue myoepithelial carcinoma with an unusual brain metastasis, rarely described in the literature. The purpose of this article is to present an update on the diagnosis and treatment of this pathology when affecting the central nervous system, through the review of the current evidence.
CONCLUSION
However, despite complete surgical resection, there is about a significative high rate of local recurrence and metastasis. Careful patient follow-up and staging is essential for better characterization and understanding of this tumor's behavior.
PubMed: 36895250
DOI: 10.25259/SNI_55_2023 -
JACC. Case Reports Feb 2023Myoepithelioma of the soft tissue is a rare entity that can mimic myxoma when presenting within the heart. We present a case where cardiopulmonary bypass venous cannula...
Myoepithelioma of the soft tissue is a rare entity that can mimic myxoma when presenting within the heart. We present a case where cardiopulmonary bypass venous cannula extraction catheter removal of an intracardiac myoepithelioma was attempted with minimal debulking and subsequently required minimally invasive open-heart surgery with cardiopulmonary bypass. ().
PubMed: 36776791
DOI: 10.1016/j.jaccas.2022.101698 -
Head and Neck Pathology Jun 2023Secretory myoepithelial carcinomas (SMCA) are rare, mucinous, signet ring predominant tumors with primitive myoepithelial features. While many mucinous salivary gland...
BACKGROUND
Secretory myoepithelial carcinomas (SMCA) are rare, mucinous, signet ring predominant tumors with primitive myoepithelial features. While many mucinous salivary gland tumors have now been molecularly characterized, key drivers in SMCA have yet to be elucidated. Recently, NKX3.1, a homeodomain transcription factor implicated in salivary mucous acinar development was also shown in a subset of salivary mucinous neoplasms, salivary intraductal papillary mucinous neoplasms (SG-IPMN). To date, NKX3.1 expression has not been characterized in other mucinous salivary lesions. Here, we report molecular and extended immunophenotypic findings in SMCA and NKX3.1 expression in the context of other head and neck lesions.
METHODS
We retrieved 4 previously reported SMCA, performed additional immunohistochemical and targeted next-generation sequencing (NGS). We also investigated the use of NKX3.1 as a marker for SMCA in the context of its prevalence and extent (using H-score) in a mixed cohort of retrospectively and prospectively tested head and neck lesions (n = 223) and non-neoplastic tissues (n = 66).
RESULTS
NKX3.1 positivity was confirmed in normal mucous acini as well as in mucous acinar class of lesions (5/6, mean H-score: 136.7), including mucinous adenocarcinomas (3/4), SG-IPMN (1/1), and microsecretory adenocarcinoma (MSA) (1/1). All SMCA were positive. Fluorescence in situ hybridization for SS18 rearrangements were negative in all successfully tested cases (0/3). NGS was successful in two cases (cases 3 and 4). Case 3 demonstrated a PTEN c.655C>T p.Q219* mutation and a SEC16A::NOTCH1 fusion while case 4 (clinically aggressive) showed a PTEN c.1026+1G>A p.K342 splice site variant, aTP53 c.524G>A p.R175H mutation and a higher tumor mutation burden (29 per Mb). PTEN immunohistochemical loss was confirmed in both cases and a subset of tumor cells showed strong (extreme) staining for P53 in Case 4.
CONCLUSION
Despite a partial myoepithelial phenotype, SMCA, along with mucinous adenocarcinomas/SG-IPMN and MSA, provisionally constitute a mucous acinar class of tumors based on morphology and NKX3.1 expression. Like salivary mucinous adenocarcinomas/SG-IPMN, SMCA also show alterations of the PTEN/PI3K/AKT pathway and may show progressive molecular alterations. We document the first extramammary tumor with a SEC16A::NOTCH1 fusion.
Topics: Humans; Adenocarcinoma; Adenocarcinoma, Mucinous; Biomarkers, Tumor; Endoplasmic Reticulum; Golgi Apparatus; In Situ Hybridization, Fluorescence; Myoepithelioma; Pancreatic Intraductal Neoplasms; Phenotype; Phosphatidylinositol 3-Kinases; Retrospective Studies; Salivary Gland Neoplasms; Transcription Factors; Vesicular Transport Proteins
PubMed: 36746884
DOI: 10.1007/s12105-023-01524-2 -
Indian Journal of Otolaryngology and... Dec 2022Tumors of the salivary glands are rare and have various histo-pathological subtypes. The overall incidence is 2.5-3 per 100,000 patients per year. Myoepithelioma of the...
Tumors of the salivary glands are rare and have various histo-pathological subtypes. The overall incidence is 2.5-3 per 100,000 patients per year. Myoepithelioma of the parotid gland is very rare with an incidence of only 1-1.5% among all salivary gland tumors. The diagnostic criteria for benign myoepithelioma were laid down on the basis of the work of Barnes and Sciubba. A 30-year-old lady presented to our university with a mass slowly increasing in size. There were no aggravating and/or relieving factors found. On examination a 3 × 3 cm diffuse swelling was found around the right pre auricular area. Fine Needle Aspiration Cytology (FNAC) was performed. The findings were suggestive of a pleomorphic adenoma. The patient underwent a right sided superficial parotidectomy to remove the tumor. The final histopathology report revealed the tumor to be a myoepithelioma. Myoepithelioma is a benign salivary gland neoplasm formed almost entirely of myoepithelial cells arranged in a sheet, island or cord-like fashion. On CT scans, it presents as a well-circumscribed homogenous lesion with lobulated or smooth margins. Myoepitheliomas may also have nodules that enhance under contrast and areas of linear bands that do not. The recommended treatment for a myoepithelioma is complete surgical excision with wide margins. It has a very low recurrence rate compared to the 15-18% recurrence rate for pleomorphic adenomas. Utilization of immunohistochemical staining is of utmost importance in suspected myoepithelioma cases to ensure proper treatment and follow-up. Myoepitheliomas are rare tumors which must be included in the differential if a patient presents with a tumor of characteristics similar to those described above. Immunohistochemistry and electron microscopy are useful tools for the diagnosis of myoepitheliomas.
PubMed: 36742563
DOI: 10.1007/s12070-021-02763-x -
Radiology Case Reports Mar 2023Myoepithelioma-like hyalinizing epithelioid tumors are rare neoplasms that share morphological characteristics of myoepitheliomas but lack traditional immunophenotypic...
Myoepithelioma-like hyalinizing epithelioid tumors are rare neoplasms that share morphological characteristics of myoepitheliomas but lack traditional immunophenotypic findings. Though little is known about these tumors at present, a handful of recent studies have confirmed that they harbor a novel fusion gene known as "OGT-FOXO." Though closely resembling myoeptheliomas, Myoepithelioma-like hyalinizing epithelioid tumors are considered a distinct tumor entity, and few studies have explored their clinical characteristics or their potential for malignancy. Furthermore, literature describing imaging findings of these tumors is virtually non-existent. Understanding the radiological and pathological differences between Myoepithelioma-like hyalinizing epithelioid tumors and myoepitheliomas is helpful in developing a comprehensive differential for soft tissue neoplasms of the foot. We describe a case of MHET of the foot and correlate MRI findings with pathology in addition to describing surgical technique and implications to care.
PubMed: 36593918
DOI: 10.1016/j.radcr.2022.12.014 -
Cold Spring Harbor Molecular Case... Dec 2022Myoepithelial carcinomas (MECs) of soft tissue are rare and aggressive tumors affecting young adults and children, but their molecular landscape has not been...
Myoepithelial carcinomas (MECs) of soft tissue are rare and aggressive tumors affecting young adults and children, but their molecular landscape has not been comprehensively explored through genome sequencing. Here, we present the whole-exome sequencing (WES), whole-genome sequencing (WGS), and RNA sequencing findings of two MECs. Patients 1 and 2 (P1, P2), both male, were diagnosed at 27 and 37 yr of age, respectively, with shoulder (P1) and inguinal (P2) soft tissue tumors. Both patients developed metastatic disease, and P2 died of disease. P1 tumor showed a rhabdoid cytomorphology and a complete loss of INI1 (SMARCB1) expression, associated with a homozygous deletion. The tumor from P2 showed a clear cell/small cell morphology, retained INI1 expression and strong S100 positivity. By WES and WGS, tumors from both patients displayed low tumor mutation burdens, and no targetable alterations in cancer genes were detected. P2's tumor harbored an rearrangement, whereas the tumor from P1 showed a novel fusion. WGS evidenced a complex genomic event involving mainly Chromosomes 17 and 22 in the tumor from P1, which was consistent with chromoplexy. These findings are consistent with previous reports of rearrangements (50% of cases) in MECs and provide a genetic basis for the loss of SMARCB1 protein expression observed through immunohistochemistry in 10% of 40% of MEC cases. The lack of additional driver mutations in these tumors supports the hypothesis that these alterations are the key molecular events in MEC evolution. Furthermore, the presence of complex structural variant patterns, invisible to WES, highlights the novel biological insights that can be gained through the application of WGS to rare cancers.
Topics: Child; Young Adult; Humans; Male; Myoepithelioma; Soft Tissue Neoplasms; Carcinoma; Biomarkers, Tumor
PubMed: 36577525
DOI: 10.1101/mcs.a006227