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Modern Pathology : An Official Journal... Mar 2024Cutaneous mixed tumors exhibit a wide morphologic diversity and are currently classified into apocrine and eccrine types based on their morphologic differentiation. Some...
Cutaneous mixed tumors exhibit a wide morphologic diversity and are currently classified into apocrine and eccrine types based on their morphologic differentiation. Some cases of apocrine-type cutaneous mixed tumors (ACMT), namely, hyaline cell-rich apocrine cutaneous mixed tumors (HCR-ACMT) show a prominent or exclusive plasmacytoid myoepithelial component. Although recurrent fusions of PLAG1 have been observed in ACMT, the oncogenic driver of eccrine-type cutaneous mixed tumors (ECMT) is still unknown. The aim of the study was to provide a comprehensive morphologic, immunohistochemical, and molecular characterization of these tumors. Forty-one cases were included in this study: 28 cases of ACMT/HCR-ACMT and 13 cases of ECMT. After morphologic and immunohistochemical characterization, all specimens were analyzed by RNA sequencing. By immunohistochemistry, all cases showed expression of SOX10, but only ACMT/HCR-ACMT showed expression of PLAG1 and HMGA2. RNA sequencing confirmed the presence of recurrent fusion of PLAG1 or HMGA2 in all cases of ACMT/HCR-ACMT, with a perfect correlation with PLAG1/HMGA2 immunohistochemical status, and revealed internal tandem duplications of SOX10 (SOX10-ITD) in all cases of ECMT. Although TRPS1::PLAG1 was the most frequent fusion, HMGA2::WIF1 and HMGA2::NFIB were detected in ACMT cases. Clustering analysis based on gene expression profiling of 110 tumors, including numerous histotypes, showed that ECMT formed a distinct group compared with all other tumors. ACMT, HCR-ACMT, and salivary gland pleomorphic adenoma clustered together, whereas myoepithelioma with fusions of EWSR1, FUS, PBX1, PBX3, POU5F1, and KLF17 formed another cluster. Follow-up showed no evidence of disease in 23 cases across all 3 tumor types. In conclusion, our study demonstrated for the first time SOX10-ITD in ECMT and HMGA2 fusions in ACMT and further refined the prevalence of PLAG1 fusions in ACMT. Clustering analyses revealed the transcriptomic distance between these different tumors, especially in the heterogenous group of myoepitheliomas.
Topics: Humans; Adenoma, Pleomorphic; DNA-Binding Proteins; Myoepithelioma; Repressor Proteins; Salivary Gland Neoplasms; Skin Neoplasms; SOXE Transcription Factors; Sweat Gland Neoplasms; Transcription Factors
PubMed: 38266920
DOI: 10.1016/j.modpat.2024.100430 -
Practical Radiation Oncology 2024Salivary gland cancers are rare in general and salivary duct carcinoma and epithelial myoepithelial carcinomas are rare subtypes. This topic discussion will review the... (Review)
Review
Salivary gland cancers are rare in general and salivary duct carcinoma and epithelial myoepithelial carcinomas are rare subtypes. This topic discussion will review the characteristics of these uncommon cancers. Additionally, it will briefly discuss available guidelines for salivary cancers and summarize author opinions on the role of adjuvant radiation therapy for these cases.
Topics: Humans; Salivary Gland Neoplasms; Radiotherapy, Adjuvant; Myoepithelioma; Salivary Ducts
PubMed: 38161001
DOI: 10.1016/j.prro.2023.12.005 -
The Tohoku Journal of Experimental... Feb 2024Parotid tumors present a wide range of histological features, from benign to malignant. Periostin, an extracellular matrix protein specifically expressed in the...
Parotid tumors present a wide range of histological features, from benign to malignant. Periostin, an extracellular matrix protein specifically expressed in the periosteum and periodontal ligament, is isolated from osteoblast cell lines. It regulates fibrosis and collagen deposition and plays an important role in myocardial repair after myocardial infarction. It is also known to be involved in otorhinolaryngological-diseases. This study included 36 patients [38 specimens; 16 men and 20 women, mean age 59.2 (range 26-82) years] who underwent parotid tumor resection at the Division of Otorhinolaryngology, Tohoku Medical and Pharmaceutical University, between April 2017 and March 2022 and were clinically and pathologically diagnosed as having benign parotid tumors. Formalin-fixed, paraffin-embedded sections from the surgical specimens were autoclaved and immunostained with anti-periostin antibodies to evaluate the expression and distribution of periostin. Histologically, the tumors were diagnosed as pleomorphic adenomas in 15 cases (15 specimens), Warthin's tumors in 13 cases (15 specimens), basal cell adenomas in 2 cases (2 specimens), oncocytomas in 4 cases (4 specimens), and myoepitheliomas in 2 cases (2 specimens). An increased expression of periostin was found in 32 of 38 samples (84.2%) in the stroma of benign parotid tumors. Four distinct patterns of periostin expression were observed in benign parotid gland tumors: negative, superficial, infiltrative, and diffuse. Statistically significant differences were found between periostin expression patterns and histological classification of the tumors. Our results suggest that periostin may be involved in the pathogenesis of benign parotid tumors and could serve as a new biomarker for these tumors.
Topics: Adult; Aged; Aged, 80 and over; Female; Humans; Male; Middle Aged; Adenoma; Adenoma, Pleomorphic; Parotid Neoplasms; Periostin; Salivary Gland Neoplasms
PubMed: 38092409
DOI: 10.1620/tjem.2023.J099 -
Annals of Diagnostic Pathology Feb 2024SMARCB1/INI1-deficient soft tissue tumors with epithelioid and myxoid features are diverse and mainly include soft tissue myoepithelial tumor, extraskeletal myxoid...
SMARCB1/INI1-deficient soft tissue tumors with epithelioid and myxoid features are diverse and mainly include soft tissue myoepithelial tumor, extraskeletal myxoid chondrosarcoma, and the recently described myoepithelioma-like tumor of the vulvar region and myxoepithelioid tumor with chordoid features. Because of their overlapping features, the accurate diagnosis and classification of these tumors are often challenging. Herein, we report two unique cases of SMARCB1/INI1-deficient soft tissue neoplasm with epithelioid and myxoid features occurring in male paratesticular region. The first case was a 52-year-old man presented with an intermittent painful left paratesticular mass for 1 year. The second case was a 41-year-old man presented with a painless paratesticular mass on the right side for 3 months. Both patients underwent an orchiectomy. After 6 and 26 months of follow-up, both were alive with no evidence of recurrence or metastasis. In both cases, the tumor was relatively well-demarcated and showed monomorphic round to epithelioid cells arranged in a nested, trabecular, reticular, and corded pattern, setting in a myxohyalinized and vascularized matrix. The tumor cells showed relatively uniform round nuclei with vesicular chromatin and variably prominent nucleoli. No rhabdoid cells were identified. Mitoses numbered 3 and 2 per 10 high-power fields. Tumor necrosis or lymphovascular invasion was absent. Immunohistochemically, both tumors expressed epithelial membrane antigen (focal), calponin (focal), and CD99. SMARCB1/INI1 expression was deficient in both cases. In addition, case 1 diffusely expressed pan-cytokeratin, and case 2 diffusely expressed CD34 and synaptophysin. Molecular genetically, case 1 showed SMARCB1 homozygous deletion as detected by fluorescence in-situ hybridization (FISH), and case 2 demonstrated SMARCB1 copy number deletions by next-generation sequencing and SMARCB1 monoallelic deletion by FISH. Both cases lacked EWSR1 rearrangements by FISH. The overall clinicopathologic profiles of the two cases made it difficult to classify them as one of the established categories of SMARCB1/INI1-deficient mesenchymal tumors. Our study further expands the clinicopathologic and molecular spectrum of SMARCB1/INI1-deficient epithelioid and myxoid neoplasms and highlights the challenges to diagnose these tumors.
Topics: Humans; Male; Middle Aged; Adult; Homozygote; Sequence Deletion; SMARCB1 Protein; Chondrosarcoma; Neoplasms, Connective and Soft Tissue; Soft Tissue Neoplasms; Biomarkers, Tumor
PubMed: 38039617
DOI: 10.1016/j.anndiagpath.2023.152242 -
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 -
Japanese Journal of Clinical Oncology Mar 2024Salivary gland-type tumors of the lung are thought to originate from the submucosal exocrine glands of the large airways. Due to their rare occurrence, reports of their... (Review)
Review
Salivary gland-type tumors of the lung are thought to originate from the submucosal exocrine glands of the large airways. Due to their rare occurrence, reports of their study are limited to small-scale or case reports. Therefore, daily clinical practices often require a search for previous reports. In the last 20 years, several genetic rearrangements have been identified, such as MYB::NF1B rearrangements in adenoid cystic carcinoma, CRTC1::MAML2 rearrangements in mucoepidermoid carcinoma, EWSR1::ATF1 rearrangements in hyalinizing clear cell carcinoma and rearrangements of the EWSR1 locus or FUS (TLS) locus in myoepithelioma and myoepithelial carcinoma. These molecular alterations have been useful in diagnosing these tumors, although they have not yet been linked to molecularly targeted therapies. The morphologic, immunophenotypic, and molecular characteristics of these tumors are similar to those of their counterparts of extrapulmonary origin, so clinical and radiologic differential diagnosis is required to distinguish between primary and metastatic disease of other primary sites. However, these molecular alterations can be useful in differentiating them from other primary lung cancer histologic types. The management of these tumors requires broad knowledge of the latest diagnostics, surgery, radiotherapy, bronchoscopic interventions, chemotherapy, immunotherapy as well as therapeutic agents in development, including molecularly targeted agents. This review provides a comprehensive overview of the current diagnosis and treatment of pulmonary salivary gland tumors, with a focus on adenoid cystic carcinoma and mucoepidermoid carcinoma, which are the two most common subtypes.
Topics: Humans; Carcinoma, Adenoid Cystic; Carcinoma, Mucoepidermoid; Salivary Gland Neoplasms; Carcinoma; Myoepithelioma; Salivary Glands; Lung Neoplasms
PubMed: 38018262
DOI: 10.1093/jjco/hyad160 -
Indian Journal of Otolaryngology and... Dec 2023: Myoepithelioma is a rare neoplasm of the salivary glands and accounts for less than 1% of salivary gland neoplasms. Only 7 cases of myoepithelioma in the nasal cavity...
: Myoepithelioma is a rare neoplasm of the salivary glands and accounts for less than 1% of salivary gland neoplasms. Only 7 cases of myoepithelioma in the nasal cavity have been reported till date in literature. : A 61 year old male presented to us with epistaxis. There was a pinkish fleshy mass occupying the right nasal cavity. Biopsy showed evidence of an epithelial tumor of intermediate aggressiveness. We did an endoscopic complete excision of nasal cavity mass. Histopathological examination of the resected tumor was consistent with myoepithelioma. Due to its rarity, the nature of the tumor is not known and regular follow-ups are needed for early detection of recurrence and malignancy. There has been no evidence of tumor recurrence in the 18 months following surgery.
PubMed: 37974825
DOI: 10.1007/s12070-023-03852-9 -
Virchows Archiv : An International... Jun 2024Synovial sarcoma (SS) is a tumor known for its classic monophasic spindle cell or biphasic morphology. However, it exhibits a wide range of histologic variations,...
Synovial sarcoma (SS) is a tumor known for its classic monophasic spindle cell or biphasic morphology. However, it exhibits a wide range of histologic variations, leading to diagnostic challenges. Here, we present four cases of molecularly confirmed, biphasic SS originating in the feet and displaying myoepithelial differentiation. The patients were two men and two women with an age range from 19 to 71 years (mean, 45 years). Each tumor showed foci with conventional spindle cell morphology. The epithelial components included areas with nests and cords of epithelioid cells set within a hyalinized and sclerotic stroma. The cytoplasm was clear to pale and eosinophilic. The nuclei were ovoid-round with fine chromatin and small to inconspicuous nucleoli. Mitotic figures were present (2-13 per 10 high-power fields; mean, 6.5). Immunohistochemical studies showed variable staining of the myoepithelial-like regions for low molecular weight keratins, EMA, p63, and S100 protein. Molecular studies confirmed the presence of SS18::SSX1/2 fusion in all four tumors. These cases highlight an unusual variant of synovial sarcoma with an apparent predilection for the distal lower extremity and suggest that differentiation of biphasic synovial sarcoma may be impacted by the anatomic site. Awareness of this variant is important to avoid misclassification and potential treatment and prognostic implications.
Topics: Adult; Aged; Female; Humans; Male; Middle Aged; Young Adult; Biomarkers, Tumor; Foot; Immunohistochemistry; Myoepithelioma; Oncogene Proteins, Fusion; Sarcoma, Synovial; Soft Tissue Neoplasms; Retrospective Studies
PubMed: 37864652
DOI: 10.1007/s00428-023-03679-3 -
Journal of Oral and Maxillofacial... 2023Oral cavity can be host to multitude of neoplastic, premalignant or non neoplastic pathological lesions. Diagnosis of lesions of oral cavity is always of interest to...
INTRODUCTION
Oral cavity can be host to multitude of neoplastic, premalignant or non neoplastic pathological lesions. Diagnosis of lesions of oral cavity is always of interest to clinician and pathologist and rely on clinical appearance of lesions. There can be variation in diagnosis of clinical lesion with histopathology. Many oral carcinomas arise within the sites that previously had premalignant lesion. Incidence of oral cancers in population has increased among younger generations related to habits and lifestyle. These lesions during clinical presentation are misleading and create diagnostic dilemma owing to age, sex and distribution of lesions. Understanding distribution of oral mucosal lesions helps to diagnose lesions of oral cavity. Purpose of this study is to observe the variation in clinical diagnosis with histopathological diagnosis in patients with inflammatory, premalignant, benign and malignant lesions of oral cavity and oropharynx and also clinical distribution of lesions of oral cavity and oropharynx lesions by histopathology.
OBSERVATIONS
Out of total 105 lesions, ulcer in oral cavity seen in 58 (55.23%) of patients, followed by swelling or feeling of lump in oral cavity in 36 (34.29%) of patients and foreign body sensation in 23 (21.90%) of patients with tongue as most frequent site for most of lesions of oral cavity accounting in 33 (31.43%) of cases, and less frequently lesions were seen in retro molar trigone area in 2 (1.90%) patients. Histopathological diagnosis of premalignant, non neoplastic and inflammatory lesions was made in 24 (22.85%) cases, benign tumours were diagnosed in 14 (13.33%) cases and rest of 67 (63.81%) lesions were malignant. Mucocoel were seen in five (4.76%) cases, radicular cyst was seen in one (0.95%) case of female patient and four cases of Leukoplakia with one case showing mild dysplasia. Among benign tumours 11 (10.47%) patients presented with gingivitis turned out to be squamous papillomas were seen in five (4.76%) cases, fibroma was diagnosed in four (3.80%) cases, pyogenic granuloma was diagnosed in four (3.80%) cases most commonly seen over gingiva and myoepithelioma of minor salivary gland was observed in one (0.95%) case over soft palate. Out of 67 cases of malignant lesions squamous cell carcinomas were seen in 59 (88.05%) cases followed by verrucous carcinoma in 3 (4.47%) cases, 2 (2.99%) cases were basaloid squamous cell carcinomas, mucoepidermoid carcinoma was seen in 2 (2.99%) cases and 1 (1.49%) case of adenoid cystic carcinoma was seen. Majority of squamous cell carcinomas cases in study were well differentiated in 49 (73.13%) cases followed by moderately differentiated in 16 (23.88%) cases and poorly differentiated in 2 (2.99%) cases. Malignant transformation of tonsil tissue post operatively was observed in 1 (0.95%) patients on histopathology. One (2.5%) case of myoepithelioma was seen in 60 years male over soft palate.
CONCLUSION
Of all oral biopsies reported in study, increasing trend of malignancies in lower age groups of population making it an emerging threat to community and highlighting need to take effective measures to increase public awareness about risk factors and consequences of this condition. Screening programmes targeted to population over 25 years are recommended to overcome this.
PubMed: 37854899
DOI: 10.4103/jomfp.jomfp_312_22 -
Histopathology Jan 2024Recently, HMGA2::WIF1 fusion has been reported in pleomorphic adenoma (PAs) originating from the parotid gland with a characteristic canalicular adenoma (CAA)-like...
AIMS
Recently, HMGA2::WIF1 fusion has been reported in pleomorphic adenoma (PAs) originating from the parotid gland with a characteristic canalicular adenoma (CAA)-like pattern. However, it is unclear whether HMGA2::WIF1 fusion may occur in salivary gland carcinoma or tumours originating from the minor salivary glands. We herein conducted a detailed clinicopathological review of eight salivary gland tumours harbouring HMGA2::WIF1 fusions.
METHODS AND RESULTS
The reviewed diagnoses of salivary gland neoplasms with HMGA2::WIF1 fusion were PA (n = four), myoepithelioma (n = one), myoepithelial carcinoma ex PA (n = two) and high-grade carcinoma with basaloid features (n = one). Two tumours originated from the minor salivary glands. Six tumours (80%) contained areas reminiscent of CAA characterised by interconnected trabeculae/canaliculi of monotonous oncocytic or cuboidal tumour cells associated with a hypocellular, hyalinised to myxoid stroma. Areas typical of PA were seen in four (50%) cases. All tumours showed diffuse S100 and CK7 immunopositivity. Adverse events were detected in two cases, including local recurrence in a patient with PA, and local and distant recurrences and disease-related death in a patient with a high-grade carcinoma of the minor salivary gland of the buccal space, showing tumour necrosis and perineural invasion.
CONCLUSION
Salivary gland neoplasms with HMGA2::WIF1 fusion are predominantly characterised by CAA/striated duct adenoma-like histology and a S100+/CK7+ immunoprofile. These tumours are not always benign, as among all reported cases approximately 20% showed malignancy (six of 28) and adverse outcome (three of 15), including recurrence, distant metastasis and disease-specific mortality.
Topics: Humans; Adaptor Proteins, Signal Transducing; Adenoma, Pleomorphic; Carcinoma; Parotid Gland; Salivary Gland Neoplasms
PubMed: 37849332
DOI: 10.1111/his.15074