-
Head and Neck Pathology Jul 2013Hyalinizing clear cell carcinoma (HCCC) is a rare minor salivary gland tumor made up of clear cells and forming cords and nests in a hyalinized stroma. The overall... (Review)
Review
Hyalinizing clear cell carcinoma (HCCC) is a rare minor salivary gland tumor made up of clear cells and forming cords and nests in a hyalinized stroma. The overall outcome is excellent with only occasional metastatic spread. HCCC has a wide differential diagnosis including other clear cell-containing tumors, such as epithelial-myoepithelial carcinoma, mucoepidermoid carcinoma, and myoepithelial carcinoma. HCCC is currently classified as a "clear cell adenocarcinoma" by the AFIP and as "clear cell carcinoma, not otherwise specified (NOS)" by the World Health Organization (WHO). It is considered by the WHO to be a diagnosis of exclusion. Since the original description in 1994, there have been few new insights into HCCC, until recently. Dardick re-examined the features of HCCC, including the original electron microscopic images, and concluded that HCCC is a squamous lesion, at odds with the above nomenclature. Bilodeau et al. recently showed that this tumor essentially cannot be separated reliably from clear cell odontogenic carcinoma (CCOC) except by location. Antonescu et al. recently identified a consistent EWSR1-ATF1 fusion in HCCC. Bilodeau et al. subsequently argued a link between these two entities, with evidence of similar EWSR1 and ATF1 rearrangements in CCOC. This molecular signature is not present in other clear cell mimics. Cases with recurrence, metastasis, high-grade features and other alternative morphologies or presentations have also been seen and proven by molecular analysis to be HCCC. In the molecular era, HCCC can no longer be seen as a diagnosis of exclusion. It is neither an adenocarcinoma nor a "not otherwise specified" tumor, as the AFIP and WHO currently classify it. This review provides an in-depth look at the current state of knowledge of HCCC from morphology to molecular features. New developments and personal insights are provided that help identify and properly classify this lesion.
Topics: Adenocarcinoma, Clear Cell; Carcinoma, Mucoepidermoid; Diagnosis, Differential; Humans; Myoepithelioma; Odontogenic Tumors; Oncogene Proteins, Fusion; Salivary Gland Neoplasms
PubMed: 23821218
DOI: 10.1007/s12105-013-0466-8 -
Journal of Cardiothoracic Surgery May 2022Endotracheal tumors are rare in the respiratory system. Myoepitheliomas are benign tumors, which are rarely reported in the respiratory system. Herein, we report a rare... (Review)
Review
BACKGROUND
Endotracheal tumors are rare in the respiratory system. Myoepitheliomas are benign tumors, which are rarely reported in the respiratory system. Herein, we report a rare case of endotracheal myoepithelioma, which was resected by rigid bronchoscopy.
CASE PRESENTATION
A 36-year-old man, presenting with chest pain, dyspnea, stridor, and hemoptysis, was referred to our center with radiological features of near-total tracheal obstruction due to mass. Fiberoptic bronchoscopy with argon plasma coagulation and rigid bronchoscopy with grasper forceps was utilized to resect the mass. Pathological evaluation of the mass demonstrated myoepithelioma. The patient was discharged in good condition. Now, after 6 months, the patient is symptom-free with no evidence of tumor recurrence or re-growth.
CONCLUSIONS
Despite being extremely rare, myoepithelioma should be considered a possible differential diagnosis for endotracheal tumors. Fiberoptic and rigid bronchoscopy management is an effective method for the resection of endotracheal tumors.
Topics: Adult; Airway Obstruction; Bronchoscopy; Humans; Male; Myoepithelioma; Neoplasm Recurrence, Local; Trachea
PubMed: 35606819
DOI: 10.1186/s13019-022-01880-0 -
Case Reports in Oncology 2022Myoepithelial neoplasms (MNs) of the lung are extremely rare tumors. Approximately 40 cases of pulmonary MNs have been reported to date. Herein, we report extremely rare...
Myoepithelial neoplasms (MNs) of the lung are extremely rare tumors. Approximately 40 cases of pulmonary MNs have been reported to date. Herein, we report extremely rare cases of different types of pulmonary MN, including cytological features. Case 1 is an 18-year-old female, and case 2 is a 73-year-old female patient. They presented to our hospital with nodules of the lung. Histological examination revealed tumor cells with round to oval nuclei and acidophilic cytoplasm that formed nests or fascicles with mild hyalinized stroma in case 1 and tumors containing the bi-phasic components of a nest-like and fascicle pattern with pleomorphism in case 2. Immunohistochemically, these tumors were positive for cytokeratin (CK) AE1/AE3, CK5/6, vimentin, calponin, and EMA, and focal positive for S-100a protein and alpha smooth muscle actin. The pathological diagnoses in cases 1 and 2 were myoepithelioma and myoepithelial carcinoma, respectively. In conclusion, we encountered two cases of extremely rare MNs that occurred in the lung. This disease can be diagnosed by collecting appropriate cytological and histological findings and should be listed as a differential diagnosis.
PubMed: 35949910
DOI: 10.1159/000524769 -
Annals of Surgery Jun 1968
Topics: Adenoma; Bronchial Neoplasms; Carcinoma, Adenoid Cystic; Female; Humans; Male; Methods; Myoepithelioma; Neoplasm Metastasis
PubMed: 4297365
DOI: 10.1097/00000658-196806000-00008 -
Acta Stomatologica Croatica Jun 2017Myoepitheliomas are uncommon salivary gland neoplasms consisting entirely or predominantly of cells with myoepithelial phenotype. They commonly involve the parotid gland...
BACKGROUND
Myoepitheliomas are uncommon salivary gland neoplasms consisting entirely or predominantly of cells with myoepithelial phenotype. They commonly involve the parotid gland and the minor salivary glands of the palate.
AIM
A case of plasmacytoid myoepithelioma of the hard palate is described.
CASE DESCRIPTION AND RESULTS
A 55-year-old woman presented to her oral surgeon with a tumor on the hard palate. Microscopic examination showed a well-circumscribed but non-encapsulated tumor, consisting mostly of plasmacytoid cells in a loose fibrovascular stroma. Neoplastic myoepithelial cells showed immunoreactivity for S-100 protein, CK AE1/AE3 (Figure 5b), GFAP, calponin, and CD138/Syndecan-1. Total excision of the tumor under local anesthesia was performed and no recurrence was noted 14 months after treatment.
CONCLUSIONS
Since plasmacytoid myoepithelioma is uncommon, minor salivary glands, its immunohistochemical features, management and prognosis should be further investigated.
PubMed: 28827853
DOI: 10.15644/asc51/2/9 -
Genes, Chromosomes & Cancer Jun 2020Myoepithelial tumors (MET) represent a clinicopathologically heterogeneous group of tumors, ranging from benign to highly aggressive lesions. Although MET arising in...
Myoepithelial tumors (MET) represent a clinicopathologically heterogeneous group of tumors, ranging from benign to highly aggressive lesions. Although MET arising in soft tissue, bone, or viscera share morphologic and immunophenotypic overlap with their salivary gland and cutaneous counterparts, there is still controversy regarding their genetic relationship. Half of MET of soft tissue and bone harbor EWSR1 or FUS related fusions, while MET arising in the salivary gland and skin often show PLAG1 and HMGA2 gene rearrangements. Regardless of the site of origin, the gold standard in diagnosing a MET relies on demonstrating its "myoepithelial immunophenotype" of positivity for EMA/CK and S100 protein or GFAP. However, the morphologic spectrum of MET in soft tissue and bone is quite broad and the above immunoprofile is nonspecific, being shared by other pathogenetically unrelated neoplasms. Moreover, rare MET lack a diagnostic immunoprofile but shows instead the characteristic gene fusions. In this study, we analyzed a large cohort of 66 MET with EWSR1 and FUS gene rearrangements spanning various clinical presentations, to better define their morphologic spectrum and establish relevant pathologic-molecular correlations. Genetic analysis was carried out by FISH for EWSR1/FUS rearrangements and potential partners, and/or by targeted RNA sequencing. Then, 82% showed EWSR1 rearrangement, while 18% had FUS abnormalities. EWSR1-POU5F1 occurred with predilection in malignant MET in children and young adults and these tumors had nested epithelioid morphology and clear cytoplasm. In contrast, EWSR1/FUS-PBX1/3 fusions were associated with benign and sclerotic spindle cell morphology. Tumors with EWSR1-KLF17 showed chordoma-like morphology. Our results demonstrate striking morphologic-molecular correlations in MET of bone, soft tissue and viscera, which might have implications in their clinical behavior.
Topics: Adolescent; Adult; Bone Neoplasms; Child; Child, Preschool; Female; Gene Fusion; Gene Rearrangement; Humans; Infant; Lung Neoplasms; Male; Middle Aged; Myoepithelioma; Octamer Transcription Factor-3; Phenotype; RNA-Binding Protein EWS; RNA-Binding Protein FUS; Soft Tissue Neoplasms; Transcription Factors; Viscera
PubMed: 31994243
DOI: 10.1002/gcc.22835 -
Modern Pathology : An Official Journal... Jan 2014Previously unrecognized but clinicopathologically (and often molecularly) distinct types of soft tissue tumor continue to be characterized, allowing wider recognition,... (Review)
Review
Previously unrecognized but clinicopathologically (and often molecularly) distinct types of soft tissue tumor continue to be characterized, allowing wider recognition, more consistent application of diagnostic criteria, more reliable prediction of tumor behavior and enhancement of existing classification schemes. Examples of such 'entities' that have become much better understood over the past decade or so include deep 'benign' fibrous histiocytoma, hemosiderotic fibrolipomatous tumor, PEComa, spindle cell liposarcoma, myoepithelial tumors of soft tissue and spindle cell/sclerosing rhabdomyosarcoma. These tumor types, as well as the insights which they have engendered, are briefly reviewed here.
Topics: Biomarkers, Tumor; Histiocytoma, Benign Fibrous; Humans; Liposarcoma; Myoepithelioma; Perivascular Epithelioid Cell Neoplasms; Prognosis; Rhabdomyosarcoma; Soft Tissue Neoplasms
PubMed: 24384856
DOI: 10.1038/modpathol.2013.172 -
Dento Maxillo Facial Radiology Feb 2012This study aimed to investigate the value of ultrasound in the identification of benign and malignant parotid masses.
OBJECTIVES
This study aimed to investigate the value of ultrasound in the identification of benign and malignant parotid masses.
METHODS
Data of 189 patients with parotid gland masses undergoing ultrasound-guided fine-needle aspiration (FNA), core biopsy or surgery were reviewed retrospectively and the presumed sonographic diagnoses were compared with the histopathology. The sensitivity, specificity and accuracy of sonographic diagnoses were assessed and the sonographic characteristics of those lesions, including shape, margin, echogenicity, echotexture and vascularization, were studied.
RESULTS
Of the 189 patients, the final pathological diagnosis included 18 malignant tumours and 171 benign masses; the presumed sonographic diagnoses showed 165 cases as benign and probably benign masses (11 cases were confirmed malignant, 154 cases benign) and 24 cases were diagnosed as probably malignant and malignant masses (7 cases were confirmed malignant, 17 cases benign). The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of ultrasound for the diagnosis of parotid gland masses were 38.9%, 90.1%, 29.2%, 93.3% and 85.2%, respectively, and accuracy for malignant masses was 20%. The sonographic characteristics of parotid masses between benign and malignant lesions had no significant differences. The parotid gland masses in this study included pleomorphic adenoma, Warthin's tumour, retention cyst, haemangiomas, chronic granuloma, lymphoma, fibrolipoma, abscess, basal cell adenoma, oncocytoma, lymphatic tuberculosis, myoepithelioma, neurilemmoma, mucoepidermoid carcinoma, adenoid cystic carcinoma, alveolar soft part sarcoma and retinal blastoma (metastasis).
CONCLUSIONS
It is challenging to use sonography for differentiating between benign and malignant parotid gland masses. To make a definite diagnosis, ultrasound-guided FNA or core biopsy is advocated.
Topics: Adenolymphoma; Adenoma, Pleomorphic; Adolescent; Adult; Aged; Biopsy; Carcinoma, Mucoepidermoid; Child; Child, Preschool; Female; Hemangioma; Humans; Infant; Male; Middle Aged; Parotid Neoplasms; Sensitivity and Specificity; Ultrasonography; Young Adult
PubMed: 22116132
DOI: 10.1259/dmfr/60907848 -
Diagnostic Pathology Jul 2006Breast spindle cell tumours (BSCTs), although rare, represent a heterogeneous group with different treatment modalities. This work was undertaken to evaluate the utility...
BACKGROUND
Breast spindle cell tumours (BSCTs), although rare, represent a heterogeneous group with different treatment modalities. This work was undertaken to evaluate the utility of fine needle aspiration cytology (FNAC), histopathology and immunohistochemistry (IHC) in differentiating BSCTs.
METHODS
FNAC of eight breast masses diagnosed cytologically as BSCTs was followed by wide excision biopsy. IHC using a panel of antibodies against vimentin, pan-cytokeratin, s100, desmin, smooth muscle actin, CD34, and CD10 was evaluated to define their nature.
RESULTS
FNAC defined the tumors as benign (n = 4), suspicious (n = 2) and malignant (n = 3), based on the cytopathological criteria of malignancy. Following wide excision biopsy, the tumors were reclassified into benign (n = 5) and malignant (n = 3). In the benign group, the diagnosis was raised histologically and confirmed by IHC for 3 cases (one spindle cell lipoma, one myofibroblastoma and one leiomyoma). For the remaining two cases, the diagnosis was set up after IHC (one fibromatosis and one spindle cell variant of adenomyoepithelioma). In the malignant group, a leiomyosarcoma was diagnosed histologically, while IHC was crucial to set up the diagnosis of one case of spindle cell carcinoma and one malignant myoepithelioma.
CONCLUSION
FNAC in BSCTs is an insufficient tool and should be followed by wide excision biopsy. The latter technique differentiate benign from malignant BSCTs and is able in 50% of the cases to set up the definite diagnosis. IHC is of value to define the nature of different benign lesions and is mandatory in the malignant ones for optimal treatment. Awareness of the different types of BSCTs prevents unnecessary extensive therapeutic regimes.
PubMed: 16859566
DOI: 10.1186/1746-1596-1-13 -
Biomolecules Nov 2022The Serum Response Factor (SRF) is a transcription factor that regulates the expression of a wide set of genes involved in cell proliferation, migration, cytoskeletal...
The Serum Response Factor (SRF) is a transcription factor that regulates the expression of a wide set of genes involved in cell proliferation, migration, cytoskeletal organization and myogenesis. Accumulating evidence suggests that may play a role in carcinogenesis and tumor progression in various neoplasms, where it is often involved in different fusion events. Here we investigated rearrangements in soft tissue tumors, along with a gene expression profile analysis to gain insight into the oncogenic mechanism driven by fusion. Whole transcriptome analysis of cell lines transiently overexpressing the SRF::E2F1 chimeric transcript uncovered the specific gene expression profile driven by the aberrant gene fusion, including overexpression of SRF-dependent target genes and of signatures related to myogenic commitment, inflammation and immune activation. This result was confirmed by the analysis of two cases of myoepitheliomas harboring fusion with respect to -fusion positive tumors. The recognition of the specific gene signature driven by rearrangement in soft tissue tumors could aid the molecular classification of this rare tumor entity and support therapeutic decisions.
Topics: Humans; Serum Response Factor; Soft Tissue Neoplasms; Cell Differentiation; Transcription Factors; Muscles
PubMed: 36421692
DOI: 10.3390/biom12111678