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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 -
SAGE Open Medical Case Reports 2020Myoepitheliomas account for approximately 1.5% of all salivary gland tumors and arise most frequently from the parotid gland. Recently, a new myoepithelioma variant,...
Myoepitheliomas account for approximately 1.5% of all salivary gland tumors and arise most frequently from the parotid gland. Recently, a new myoepithelioma variant, called mucinous myoepithelioma, has attracted widespread attention. These tumors are recognized as a unique subtype of myoepithelioma, characterized by the presence of abundant mucin. We herein report the findings of an 86-year-old Japanese woman who presented with a hard mass of the right parotid gland behind her right ear which was gradually increasing in size. The patient had undergone a fine-needle aspiration biopsy 4 years earlier, and a cytological evaluation of a biopsy specimen had shown features of pleomorphic adenoma. A resection was thus performed and the tissue was found to be an encapsulated, soft and solid mass, and the cut surface was observed to be a capsulated and well-defined tumor lesion with myxoid-looking foci of gray-white coloration. Microscopic examination revealed that this lesion was composed of a proliferation of bland-looking epithelial and myoepithelial cells, arranged in a solid or reticular growth fashion in an abundant myxomatous or hyalinized stroma. These neoplastic epithelial cells had centrally located small nuclei with fine chromatin and abundant clear to eosinophilic cytoplasm, often containing mucin in a uniform pattern. Immunohistochemical staining demonstrated the tumor cells to be positive for AE1/AE3, S-100 and mucicarmine. Our findings suggest this case to be one myoepithelioma variant of mucinous myoepithelioma, and more experience related to this myoepithelioma variant is necessary to better understand its biological behavior and make an accurate diagnosis for a proper treatment.
PubMed: 33101682
DOI: 10.1177/2050313X20940567 -
Journal of Microscopy and Ultrastructure 2023Salivary gland tumors (SGTs) are serious challenges to pathologists. Herein, we aimed to assess epidemiological and histopathological characteristics of SGTs among...
BACKGROUND AND OBJECTIVES
Salivary gland tumors (SGTs) are serious challenges to pathologists. Herein, we aimed to assess epidemiological and histopathological characteristics of SGTs among Sudanese patients.
MATERIALS AND METHODS
This retrospective descriptive study was undertaken at The pathology department in Khartoum State between 2008 and 2018. Patient records, histopathological reports, and slides were retrieved; and re-examined by two histopathologists. Diagnoses were reclassified according to the 2017 WHO classification of SGTs.
RESULTS
Overall, 150 cases of Sudanese patients with SGT were included (90 [60%] males and 60 [40%] females). Among these, 105 were benign (70%) and 45 were malignant (30%). The parotid glands were the most common site for both benign and malignant tumors (77/150; 51%: 59 benign (76.6%) and 18 malignant [23.4%]). The next common site was the submandibular gland (54 [36%]: 38 benign [70.3%] and 16 malignant [29.7%]), followed by minor salivary glands (19 [12.7%]: 8 benign and 11 malignant [57.9%]). Benign gland entities included pleomorphic adenoma (88/105; 83.7%), oncocytoma (5/105; 4.8%), myoepithelioma (4/105; 3.8%), Whartin tumors (3/105; 2.9%), basal cell adenoma (3/105; 2.9%), and sialolipoma (2/105; 1.9%). Malignant gland entities included adenoid cystic carcinoma (12; 26.7%), mucoepidermoid carcinoma (10; 22,2%), acinic cell carcinoma (6; 13.3%), poorly differentiated carcinoma (4; 8.9%), adenocarcinoma NOS (not otherwise specified) (4; 8.9%), basal cell adenocarcinoma (3; 6.7%), carcinoma ex pleomorphic adenoma (3; 6.7%), polymorphous adenocarcinoma (2; 4.4%), salivary duct carcinoma (1; 2.2%), and epithelial-myoepithelial carcinoma (2.2%).
CONCLUSIONS
SGTs shared several epidemiological and histopathological features, exhibiting high incidence in the parotid and submandibular glands, lower prevalence in minor glands, and greater male predominance.
PubMed: 37448823
DOI: 10.4103/jmau.jmau_113_20 -
Indian Journal of Otolaryngology and... Dec 2023Myoepithelial carcinoma is a morphologically diverse tumor which either arises de novo or from the malignant transformation of its benign counterpart i.e....
Myoepithelial carcinoma is a morphologically diverse tumor which either arises de novo or from the malignant transformation of its benign counterpart i.e. myoepithelioma. These are relatively lesser known entities and are rarely found in head and neck region. Although rare, their first presentation is usually a painless growing mass as seen in our case presentation as well and are infamous for lymph node recurrence and distant metastasis. Due to their clinical presentation and varied morphology these become tedious to diagnose and pose difficulty for a surgeon when presented at a later date due to their effect on the adjacent vital structures. We report a case of myoepithelial carcinoma in head and neck region arising from the nasal cavity, it's mass effect on the adjacent vital organs and the diagnosis and treatment plan to render the patient free of this tumor, preservation of the vision and keeping the recurrence of the tumor at bay.
PubMed: 38027531
DOI: 10.1007/s12070-023-03989-7 -
International Journal of Dermatology May 2020
Topics: Adult; Biomarkers, Tumor; Cytoreduction Surgical Procedures; Foot; Humans; Immunohistochemistry; Male; Margins of Excision; Myoepithelioma; Skin; Skin Neoplasms; Treatment Outcome
PubMed: 31769018
DOI: 10.1111/ijd.14734 -
BMC Musculoskeletal Disorders Jul 2022The purpose of this study was to investigate the feasibility of using a three-dimensional (3D)-printed arthrodesis prosthesis for reconstruction of the proximal humeral...
Efficacy and safety of a 3D-printed arthrodesis prosthesis for reconstruction after resection of the proximal humerus: preliminary outcomes with a minimum 2-year follow-up.
BACKGROUND
The purpose of this study was to investigate the feasibility of using a three-dimensional (3D)-printed arthrodesis prosthesis for reconstruction of the proximal humeral defect after tumor resection.
METHODS
A novel proximal humeral prosthesis was designed to restore bone continuity and shoulder arthrodesis and was fabricated via 3D printing technology. Ten patients with primary malignancies in the proximal humerus underwent intra-articular resection and replacement with this prosthesis from 2017 to 2019. Baseline and operative data, oncological and prosthetic survival, and functional status were summarized.
RESULTS
This cohort consisted of 9 males and 1 female with a mean age of 32.1 ± 16.1 years. Diagnoses included 5 cases of osteosarcoma, 3 cases of chondrosarcoma and 1 each case of undifferentiated pleomorphic sarcoma and malignant myoepithelioma. The mean operative duration, intraoperative hemorrhage and postoperative length of hospitalization were 151.5 ± 61.0 min, 410.0 ± 353.4 ml and 5.3 ± 1.9 d, respectively. The mean follow-up duration was 29.3 ± 6.4 months, with a minimum of 24 months for the surviving patients. Two patients experienced local recurrence, and four patients developed distant metastases. Detachment of the taper occurred in two patients. One was managed conservatively, and the other received amputation due to concurrent tumor recurrence. The mean MSTS-93 and ASES scores and ranges of forwards flexion and abduction were 24.9 ± 3.1, 79.4 ± 8.3, 71.3 ± 19.4°, and 61.3 ± 16.4°, respectively. The functional outcomes were independent of the preservation of the axillary nerve. Histological study of the glenoid component showed evidence of bone ingrowth at the bone-prosthesis porous interface.
CONCLUSION
Application of the 3D-printed arthrodesis prosthesis might be a safe and efficacious method for functional reconstruction in patients who underwent resection of the proximal humerus, especially for those without preservation of the axillary nerve.
Topics: Adolescent; Adult; Arthrodesis; Artificial Limbs; Bone Neoplasms; Female; Follow-Up Studies; Humans; Humerus; Male; Middle Aged; Printing, Three-Dimensional; Shoulder; Young Adult
PubMed: 35787280
DOI: 10.1186/s12891-022-05581-6 -
Indian Journal of Otolaryngology and... Oct 2022Salivary gland neoplasms pose considerable diagnostic difficulty owing to their diverse histological features in individual lesions and the presence of a number of types...
Salivary gland neoplasms pose considerable diagnostic difficulty owing to their diverse histological features in individual lesions and the presence of a number of types and variants & similar histological features with other tumor entities. Myoepithelial and basal cells play a significant role in the pathogenesis of salivary gland neoplasm. p63 and smooth muscle actin are more reliable markers for identifying these cells and not studied much comparing their reliability in the diagnosis of salivary gland neoplasms. Hence, the aim of this study is to evaluate and compare the diagnostic reliability of immunohistochemical markers such as p63 and smooth muscle actin (SMA) in the diagnosis of various benign and malignant salivary gland neoplasms. The study comprises of 18 samples categorized into two groups: Group I comprised 9 cases, of which 4 cases were Pleomorphic adenoma, 2 cases were Myoepithelioma, 2 cases of Basal cell adenoma and 1 case was Warthin's tumor; and Group II consisted of 9cases, of which 3 was Mucoepidermoid carcinoma, 1 cases were Myoepithelial carcinoma and 5 cases were Adenoid cystic carcinoma. The selected cases were subjected to immunohistochemistry (IHC) procedure to assess the expression pattern of p63 and smooth muscle actin. The obtained data was analysed statistically by using Mann-Whitney test. In SMA, strong positivity for epithelial and connective tissue components of benign salivary neoplasm is about 22.2%respectively. In malignant salivary neoplasm, SMA was strongly positive for the epithelial and connective tissue component of about 77.7% and 88.8% cases respectively. The difference in the connective tissue components was found to be statistically significant ( = 24, = 0.032). P63 was strongly positive for the epithelial and connective tissue component of benign salivary neoplasm of about 33.3% and 11.1% cases respectively.In malignant salivary neoplasm, p63 was strongly positive for the epithelial component of about 66.6% cases and connective tissue is completely negative. Alpha-SMA can be utilized as reliable IHC markers for salivary gland neoplasms due to its diagnostic importance in tumors with myoepithelial origin indicative of the histogenesis of salivary gland tumors and even p63 can be used as specific markers for differentiation of malignant salivary gland tumors.
PubMed: 36452668
DOI: 10.1007/s12070-020-02237-6 -
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 -
Head and Neck Pathology Jun 2024Myoepithelioma is a benign salivary gland tumor. Central myoepitheliomas are very rare. The aim of this report was to describe a case of maxillary myoepithelioma. A...
Myoepithelioma is a benign salivary gland tumor. Central myoepitheliomas are very rare. The aim of this report was to describe a case of maxillary myoepithelioma. A 14-year-old female patient presented with an multilocular lesion in the anterior maxilla, with nearly 8 months of duration. The lesion was asymptomatic, and the patient's dental history was unremarkable. The diagnostic hypothesis was an odontogenic tumor. Biopsy specimen consisted of nests of plasmacytoid cells in a myxoid stroma without duct formation. No cellular atypia or bone and cartilage formation were noted. The neoplastic cells were positive for Pan-cytokeratin, S100, CK7, and CK8. The final diagnosis was myoepithelioma. The patient was treated by surgical excision followed by bone curettage, and no signs of recurrence were found after 8 years of treatment.
Topics: Humans; Female; Myoepithelioma; Adolescent; Maxillary Neoplasms; Biomarkers, Tumor
PubMed: 38940938
DOI: 10.1007/s12105-024-01665-y -
Journal of Cutaneous Pathology May 2023Cutaneous syncytial myoepithelioma is a tumor type that was initially reported in 2013 as a syncytial variant of cutaneous myoepithelioma characterized by intradermal... (Review)
Review
Cutaneous syncytial myoepithelioma is a tumor type that was initially reported in 2013 as a syncytial variant of cutaneous myoepithelioma characterized by intradermal nodular proliferation of oval to spindle-shaped tumor cells in solid and syncytial patterns. Fusion of genes Ewing sarcoma breakpoint region 1 / EWS RNA binding protein 1 (EWSR1) and pre-B cell leukemia homeobox 3 (PBX3) is found in approximately 90% of the cases. We report a case of cutaneous syncytial myoepithelioma with diagnostic difficulty due to folliculocentric morphology and atypical immunohistochemical results, including diffuse positivity of α-smooth muscle actin and claudin 4 and negative immunoreactions for epithelial membrane antigen and S100 protein. In the present case, fluorescence in situ hybridization study demonstrated EWSR1 rearrangement. We further provide a discussion of differential diagnoses with a review of relevant literature.
Topics: Humans; Biomarkers, Tumor; Gene Rearrangement; In Situ Hybridization, Fluorescence; Myoepithelioma; RNA-Binding Protein EWS; S100 Proteins; Skin Neoplasms
PubMed: 36820993
DOI: 10.1111/cup.14419