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Myoepithelioma-like tumor of the vulvar region: a case report in China and review of the literature.Diagnostic Pathology Jan 2020Myoepithelioma-like tumor of the vulvar region (MELTVR) is a recently described mesenchymal neoplasm which typically arising in vulvar regions of adult women. (Review)
Review
BACKGROUND
Myoepithelioma-like tumor of the vulvar region (MELTVR) is a recently described mesenchymal neoplasm which typically arising in vulvar regions of adult women.
CASE PRESENTATION
Here we report a case of a 65-year-old woman who presented with a 6-year history of subcutaneous mass in the vulvar region. The mass had recently increased in size continuously. Histologically, the tumor cells had an epithelioid to spindled shape. Epithelioid tumor cells proliferated singly or in a loosely cohesive manner with myxoid areas, while spindled tumor cells grew in diffuse sheets or storiform arrangements mainly in nonmyxoid areas. Immunohistochemically, the tumor cells were positive for vimentin, epithelial membrane antigen, calponin, and were partially mild to moderate positive for estrogen receptor, but completely negative for S100 protein, glial fibrillary acidic protein, CD34, desmin, SMA and cytokeratin. INI1/SMARCB1 expression was deficient. EWSR1 and FUS genes were intact tested by fluorescence in situ hybridization analysis. Based on these findings, we diagnose this case as MELTVR. The patient remained relapse-free after the lesion was widely excised during 8 months follow-up.
CONCLUSIONS
This disease should be included in the differential diagnostic list of vulvar tumors with epithelioid to spindled morphology. Recognition of its histopathological features and immunohistochemical reactivity will help to understand the tumor better.
Topics: Aged; Biomarkers, Tumor; China; Diagnosis, Differential; Female; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Myoepithelioma; SMARCB1 Protein; Vulvar Neoplasms
PubMed: 31915021
DOI: 10.1186/s13000-019-0923-0 -
The American Journal of Dermatopathology Feb 2018Soft tissue, or cutaneous, myoepitheliomas are rare tumors arising solely from a myoepithelial origin. These neoplasms are typically associated with uncertain...
Soft tissue, or cutaneous, myoepitheliomas are rare tumors arising solely from a myoepithelial origin. These neoplasms are typically associated with uncertain differentiation and can contain cellular morphologies that include spindle, plasmacytoid, epithelioid, or clear cell forms. Soft tissue myoepitheliomas are commonly found on the lower limbs and in the pelvic girdle but can occur throughout the body. A small minority display heterogenous differentiation, typically osseous or cartilaginous in nature. Squamous and adipocytic cell types are much rarer. We report the case of myoepithelioma of soft tissue with both squamous and adipocytic metaplasia. In the largest myoepithelioma series of 101 soft tissue myoepitheliomas, there were only 2 cases of squamous metaplasia and 1 case of adipocytic metaplasia. Our case displays the unique occurrence of 2 rare histologic findings occurring simultaneously within an already uncommon neoplasm.
Topics: Adipocytes; Aged; Epithelial Cells; Female; Humans; Metaplasia; Myoepithelioma; Soft Tissue Neoplasms
PubMed: 28796694
DOI: 10.1097/DAD.0000000000000969 -
Head and Neck Pathology Jun 2022GLI1 fusions involving ACTB, MALAT1, PTCH1 and FOXO4 genes have been reported in a subset of malignant mesenchymal tumors with a characteristic nested epithelioid... (Review)
Review
GLI1 fusions involving ACTB, MALAT1, PTCH1 and FOXO4 genes have been reported in a subset of malignant mesenchymal tumors with a characteristic nested epithelioid morphology and frequent S100 positivity. Typically, these multilobulated tumors consist of uniform epithelioid cells with bland nuclei and are organized into distinct nests and cords with conspicuously rich vasculature. We herein expand earlier findings by reporting a case of a 34-year-old female with an epithelioid mesenchymal tumor of the palate. The neoplastic cells stained positive for S100 protein and D2-40, whereas multiple other markers were negative. Genetic alterations were investigated by targeted RNA sequencing, and a PTCH1-GLI1 fusion was detected. Epithelioid mesenchymal tumors harboring a PTCH1-GLI1 fusion are vanishingly rare with only three cases reported so far. Due to the unique location in the mucosa of the soft palate adjacent to minor salivary glands, multilobulated growth, nested epithelioid morphology, focal clearing of the cytoplasm, and immunopositivity for S100 protein and D2-40, the differential diagnoses include primary salivary gland epithelial tumors, in particular myoepithelioma and myoepithelial carcinoma. Another differential diagnostic possibility is the ectomesenchymal chondromyxoid tumor. Useful diagnostic clues for tumors with a GLI1 rearrangement include a rich vascular network between the nests of neoplastic cells, tumor tissue bulging into vascular spaces, and absence of SOX10, GFAP and cytokeratin immunopositivity. Identifying areas with features of GLI1-rearranged tumors should trigger subsequent molecular confirmation. This is important for appropriate treatment measures as PTCH1-GLI1 positive mesenchymal epithelioid neoplasms have a propensity for locoregional lymph node and distant lung metastases.
Topics: Adult; Biomarkers, Tumor; Female; Humans; Myoepithelioma; Palate, Soft; S100 Proteins; Salivary Gland Neoplasms; Soft Tissue Neoplasms; Zinc Finger Protein GLI1
PubMed: 34655412
DOI: 10.1007/s12105-021-01388-4 -
Modern Pathology : An Official Journal... May 2018Extraskeletal myxoid chondrosarcoma is a rare subtype of sarcoma that affects the soft tissue and bones in middle-aged and elderly adults. Its diagnosis can be...
Extraskeletal myxoid chondrosarcoma is a rare subtype of sarcoma that affects the soft tissue and bones in middle-aged and elderly adults. Its diagnosis can be challenging, with the differential diagnoses including a wide variety of mesenchymal tumors. The line of differentiation of extraskeletal myxoid chondrosarcoma has been controversial, but recent evidence suggests a neuroendocrine phenotype. INSM1 is a zinc-finger transcription factor that plays a pivotal role in neuroendocrine differentiation, and has been proposed as a promising immunohistochemical marker of neuroendocrine carcinoma. The aim of this study was to determine the prevalence of INSM1 expression in extraskeletal myxoid chondrosarcoma and to understand its significance in sarcoma diagnosis. We immunostained the representative sections of 31 NR4A3-rearranged extraskeletal myxoid chondrosarcomas and 187 histological mimics. Nuclear staining of moderate or higher intensity in at least 5% of tumor cells was considered positive. Twenty-eight of the 31 extraskeletal myxoid chondrosarcomas (90%) were positive for INSM1, providing strong evidence for neuroendocrine differentiation. The staining was diffuse (>50%) in 17 cases, with most immunopositive tumors showing at least focal strong expression. The INSM1 staining extent was not correlated with cytomorphology, synaptophysin expression, or fusion types (EWSR1 vs non-EWSR1). In contrast, INSM1 expression was negative in 94% of the 187 other mesenchymal tumors. INSM1-positive mimics comprised a small subset of chordoma (1 of 10), soft tissue myoepithelioma (1 of 20), ossifying fibromyxoid tumor (3 of 10), and Ewing sarcoma (3 of 10), among other tumor types. The majority of these cases showed labeling in <25% of the tumor cells. Although not entirely sensitive or specific, INSM1 could be a potential marker for the diagnosis of extraskeletal myxoid chondrosarcoma when molecular genetic access is limited.
Topics: Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Chondrosarcoma; DNA-Binding Proteins; Female; Gene Expression; Humans; Immunohistochemistry; Male; Middle Aged; Neoplasms, Connective and Soft Tissue; RNA-Binding Protein EWS; Receptors, Steroid; Receptors, Thyroid Hormone; Repressor Proteins; Synaptophysin; Transcriptional Activation
PubMed: 29327709
DOI: 10.1038/modpathol.2017.189 -
The American Journal of Case Reports Jan 2020BACKGROUND Myoepithelioma is a rare neoplasm that differentiates toward myoepithelial cells. This condition mainly occurs in the salivary gland and rarely in the soft...
BACKGROUND Myoepithelioma is a rare neoplasm that differentiates toward myoepithelial cells. This condition mainly occurs in the salivary gland and rarely in the soft tissue or internal organs. Long-term survival with repeated multiple rounds of resection for recurrence is rarely reported. CASE REPORT A 69-year-old man was diagnosed with metachronous pancreatic and thyroid metastases from myoepithelioma, which initially originated from a resected soft-tissue lesion in the left clavicular region in 2007. In addition, a locally recurrent lesion was resected and the patient received brachytherapy in 2015. Moreover, a metachronous metastatic lesion in the right lung was resected in 2017. Histopathological examination confirmed that all lesions were myoepithelioma. In the present case, pancreatoduodenectomy and right hemithyroidectomy for both metastatic lesions were successfully performed. Histopathology revealed small round-to-spindle-shaped tumor cells with atypia, proliferating in reticular formation, accompanied by myxoid stroma with chondromyxoid and hyalinized stroma, and the histology was similar to that observed in the previous specimen. Immunohistochemistry revealed positivity for cytokeratin (AE1/AE3), glial fibrillary acidic protein, vimentin, and S-100, and confirmed the diagnosis of myoepithelioma. To the best of our knowledge, this is the first study presenting a long-term survivor of soft-tissue myoepithelioma who underwent repeated multiple rounds of resection for recurrence in various organs. CONCLUSIONS We reported the case of a long-term survivor of soft-tissue myoepithelioma requiring multiple rounds of surgical resection for local recurrence and metachronous metastases in the lung, pancreas, and thyroid. When managed appropriately, some patients might benefit in terms of survival from repeated resection of recurrent lesions.
Topics: Aged; Clavicle; Humans; Lung Neoplasms; Male; Myoepithelioma; Pancreatic Neoplasms; Soft Tissue Neoplasms; Thyroid Neoplasms
PubMed: 31983728
DOI: 10.12659/AJCR.920702 -
BMJ Case Reports Jun 2021Myoepitheliomas are rare benign tumours that affect the exocrine glands and are sporadically located in the salivary glands. The most common location of myoepithelioma...
Myoepitheliomas are rare benign tumours that affect the exocrine glands and are sporadically located in the salivary glands. The most common location of myoepithelioma in the oral cavity is the parotid gland and it is seldom encountered in the palate. The diagnosis of this entity is challenging since its clinical presentation may resemble those of more common neoplasms, rendering a complex histopathological diagnosis. The aim of the present case report is to describe an unusual case of myoepithelioma of the soft palate in a male patient, which developed as an asymptomatic, slowly growing mass. The tumour was assessed with histopathological examination and the diagnosis was verified via immunohistochemistry. Finally, the treatment included surgical resection of the tumour and no signs of recurrence were noted 2.5 years after the surgical procedure. Early diagnosis and treatment plays an important role in the prognosis of this pathological entity.
Topics: Humans; Immunohistochemistry; Male; Myoepithelioma; Neoplasm Recurrence, Local; Palate, Soft; Salivary Gland Neoplasms
PubMed: 34187791
DOI: 10.1136/bcr-2020-240384 -
Diagnostic Pathology Jul 2015Myoepithelial neoplasms, although sometimes encountered in soft tissues are described very rarely in mediastinum and lung. We reported a rare case of such a tumor which... (Review)
Review
BACKGROUND
Myoepithelial neoplasms, although sometimes encountered in soft tissues are described very rarely in mediastinum and lung. We reported a rare case of such a tumor which was very large in size and not connected to respiratory tree.
CASE PRESENTATION
A 24 year old male presented with blunt chest pain and respiratory distress. A CT scan was performed which showed large heterogeneously enhancing soft tissue mass occupying the left hemithorax. It measures 18.5 X 15.8 X 7.6. Thoracotomy with excision of the tumor was done. Operative findings include multilobulated and nodular large glistening white tumor located in anterior mediastinum adherent to parietal pleura and effacing the pulmonary parenchyma. However tumor was not connected or seems to originate from trachea or lung. Microscopic sections show neoplastic lesion composed of nests, cords and trabeculae of small to medium sized cells with round nuclei and clear cytoplasm. Background showed myxoid appearance with areas of cartilaginous differentiation. Immunohistochemical expression of CKAE1/AE3, p63, ASMA, S100 and GFAP favored the diagnosis of benign myoepithelioma.
CONCLUSION
Myoepithelial tumors are rare soft tissue tumors thought to arise from stem cells capable of divergent differentiation and occur anywhere in the body. Histopathologic recognition of these tumors is essential as these tumors may behave in a benign fashion despite large sizes.
Topics: Biomarkers, Tumor; Biopsy; Chest Pain; Humans; Immunohistochemistry; Male; Mediastinal Neoplasms; Myoepithelioma; Respiration Disorders; Thoracotomy; Tomography, X-Ray Computed; Treatment Outcome; Tumor Burden; Young Adult
PubMed: 26170201
DOI: 10.1186/s13000-015-0340-y -
Head and Neck Pathology Mar 2023Salivary gland tumors (SGT) are a diverse group of neoplasms arising from the major and minor glands. The oral cavity is the most common site for minor SGT (IMSGT), and...
BACKGROUND
Salivary gland tumors (SGT) are a diverse group of neoplasms arising from the major and minor glands. The oral cavity is the most common site for minor SGT (IMSGT), and these lesions frequently pose a challenge to the pathologist due to overlapping histopathological features and limited material for analysis. Our objective was to determine specific clinical and histopathological features associated with challenges in IMSGT diagnoses and pathologists' agreement.
METHODS
We conducted a retrospective analysis of 248 IMSGT received between 2010 and 2019. We evaluated the diagnostic challenge of the cases by stratifying according to whether a definitive, favored, or indeterminate (challenging) diagnosis was provided. Inter-observer agreement and concordance of biopsy diagnoses with the final diagnoses after tumor resection were evaluated.
RESULTS
Of the 248 biopsies, 191 had a definitive diagnosis, 38 favored diagnoses, and 19 were indeterminate. The predominant diagnoses considered for the indeterminate category were pleomorphic adenoma/myoepithelioma (PA), polymorphous adenocarcinoma (PAC), adenoid cystic carcinoma (AdCC), and low-grade adenocarcinoma. Using multivariate analysis of clinical features, younger patient age, smaller tumor size, and larger biopsy size increased the likelihood of a definitive diagnosis (p = 0.014, p = 0.037, p = 0.012). The inter-observer agreement for 68 representative cases was moderate overall (Fleiss's Kappa 0.575) and good for the 40 cases with a definitive diagnosis (Fleiss's Kappa 0.66). Sixty-five biopsy diagnoses were matched with corresponding tumor resection diagnoses and found to show a good concordance (Cramer's V test 0.76). The discordant diagnoses predominantly involved PA, carcinoma exPA, PAC, AdCC, and adenocarcinoma NOS.
CONCLUSION
Diagnostic challenges in IMSGT incisional biopsies were infrequent, especially if multiple pathologists were consulted. PA, PAC, AdCC, and adenocarcinoma NOS were the histologic types more commonly posing diagnostic challenges. Younger patient age, smaller tumor size, and larger biopsy are associated with a definitive diagnosis. This data highlights the importance of appropriate sampling in IMSGT.
Topics: Humans; Retrospective Studies; Observer Variation; Salivary Gland Neoplasms; Adenocarcinoma; Adenoma, Pleomorphic; Carcinoma, Adenoid Cystic
PubMed: 36171535
DOI: 10.1007/s12105-022-01487-w -
Human Pathology Jan 2015Carcinoma ex-pleomorphic adenoma (CA ex-PA) is a malignant salivary gland tumor that arises in association with pleomorphic adenoma (PA). Both PA and CA ex-PA have a...
Carcinoma ex-pleomorphic adenoma (CA ex-PA) is a malignant salivary gland tumor that arises in association with pleomorphic adenoma (PA). Both PA and CA ex-PA have a broad spectrum of histology, and distinction from their histologic mimics may be difficult based on morphology alone. PLAG1 and HMGA2 abnormalities are the most common genetic events in both PA and CA ex-PA; however, the use of PLAG1 and HMGA2 as adjunct molecular tests has not been well established. Fluorescence in situ hybridization for PLAG1 and HMGA2 was performed on 22 CA ex-PA (10 myoepithelial carcinomas [MECAs], 10 salivary duct carcinomas [SDCs], 1 carcinoma with squamoglandular features, and 1 mixed MECA-adenocarcinoma not otherwise specified), 20 de novo carcinomas (11 MECAs and 9 SDCs), 16 PAs, and 11 PA-histologic mimics. All except 3 CAs ex-PA (86%) were positive for PLAG1 or HMGA2 rearrangements/amplifications. In contrast, 18 (90%) of 20 de novo carcinomas lacked abnormalities in PLAG1 or HMGA2 (P < .01). PLAG1 or HMGA2 rearrangements were identified in 6 (67%) of 9 hypocellular myxoid PAs and in 2 (29%) of 7 cellular PAs. Furthermore, all morphologic mimics of PA were negative for PLAG1 or HMGA2. PLAG1 and HMGA2 rearrangements are the most common genetic events in CA ex-PA regardless of the histologic subtype. Unlike CA ex-PA, de novo carcinomas were negative for PLAG1 and HMGA2. Interestingly, rearrangements of PLAG1/HMGA2 were identified in most hypocellular PAs but only in a small subset of cellular PAs. Fluorescence in situ hybridization for PLAG1 or HMGA2 can be used to distinguish between PA and CA ex-PA and their morphologic mimics.
Topics: Adenoma, Pleomorphic; Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Biopsy; Calmodulin-Binding Proteins; Carcinoma, Ductal; DNA-Binding Proteins; Diagnosis, Differential; Female; Gene Rearrangement; Genetic Predisposition to Disease; HMGA2 Protein; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Male; Middle Aged; Mitosis; Mitotic Index; Myoepithelioma; Phenotype; Predictive Value of Tests; RNA-Binding Protein EWS; RNA-Binding Proteins; Salivary Gland Neoplasms
PubMed: 25439740
DOI: 10.1016/j.humpath.2014.08.017 -
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