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Asian Journal of Neurosurgery 2021Myoepithelial tumors are rare neoplasms that develop from myoepithelial cells in glandular structures and soft tissues. Primary intracranial myoepithelial neoplasms are...
Myoepithelial tumors are rare neoplasms that develop from myoepithelial cells in glandular structures and soft tissues. Primary intracranial myoepithelial neoplasms are even rarer with around ten cases reported. On the other hand, adrenocortical carcinoma (ACC) is also uncommon with an annual incidence of 0.7-2 per million and carries a poor prognosis. It is known to have an association with certain familial cancer syndromes. Even in sporadic cases, a significant portion of them had other malignancies before and after diagnosis of ACC. We reported a 34-year-old gentleman who was diagnosed to have ACC without known familial cancer syndrome. After that, he was also found to have right occipital myoepithelioma that was confirmed by excisional biopsy. There was no known association between these two pathologies. This is the first report of coincidence of ACC and intracranial myoepithelioma.
PubMed: 34660377
DOI: 10.4103/ajns.AJNS_502_20 -
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 -
National Journal of Maxillofacial... 2021Myoepitheliomas (MEs) are extremely rare benign neoplasms composed of ectodermally derived contractile smooth muscle cells (myoepithelial cells). Various tissues such as...
Myoepitheliomas (MEs) are extremely rare benign neoplasms composed of ectodermally derived contractile smooth muscle cells (myoepithelial cells). Various tissues such as the salivary glands, breast, larynx, and sweat glands show the presence of these myoepithelial cells. They occur, principally, in the parotid gland and infrequently in minor salivary glands. The term "Myoepitheliomas" was first coined by Sheldon in 1943. It is an uncommon salivary gland tumor which accounts for < 1% of all major and minor salivary gland tumors. Batasakis considers the ME to be "one-sided" variant at the opposite end of the spectrum from the pleomorphic adenoma. There are distinct histological and immunohistochemical characteristics of the tumor which aid in the diagnosis. ME of the palate is uncommon, and only a limited number of cases have been reported in the English literature. It shows a benign clinical course with recurrence in up to 20% of cases without metastasis. The present article sheds light on the presence of ME of minor salivary glands in the palate of 9-year-old child.
PubMed: 34483592
DOI: 10.4103/njms.NJMS_16_19 -
Oncology Letters Oct 2021Chemical carcinogens, such as 7,12-dimethylbenz[a]anthracene (DMBA) and 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine (PhIP), are known to induce mammary carcinomas in...
Chemical carcinogens, such as 7,12-dimethylbenz[a]anthracene (DMBA) and 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine (PhIP), are known to induce mammary carcinomas in mice and rats. In the present study, the phenotypic and genotypic characteristics of carcinogen-induced mammary carcinogenesis in heterozygous BALB/c tumor protein p53 () knockout mice were examined with reference to published data surrounding human breast cancer. A significantly accelerated induction of mammary carcinomas was observed following a single dose of DMBA (50 mg/kg of body weight at 7 weeks of age), and a modest acceleration was induced by PhIP (50 mg/kg of body weight) administered by gavage 6 times/2 weeks from 7 weeks of age. DMBA-induced mammary carcinomas were histopathologically characterized by distinct biphasic structures with luminal and myoepithelial cells, as well as a frequent estrogen receptor expression, and PhIP-induced carcinomas with solid/microacinar structures consisted of pleomorphic cells. Of note, DMBA-induced mammary carcinomas were characterized by a HRas proto-oncogene () mutation at codon 61, and gene/protein expression indicating MAPK stimulation. PhIP-induced lesions were suspected to be caused by different molecular mechanisms, including Wnt/β-catenin signaling and/or gene mutation-independent PI3K/AKT signaling activation. In conclusion, the present mouse mammary carcinogenesis models, induced by a combination of genetic and exogenous factors, may be utilized (such as the DMBA-induced model with gene function deficiency as a model of adenomyoepithelioma, characterized by distinct biphasic cell constituents and mutations), but PhIP-induced models are required to further analyze the genetic/epigenetic mechanisms promoting mammary carcinomas.
PubMed: 34466150
DOI: 10.3892/ol.2021.12999 -
JTCVS Techniques Aug 2021A rare and complex procedure, total lung sparing left secondary carinal resection and reconstruction is only performed in a few specialized centers in a restricted group...
OBJECTIVES
A rare and complex procedure, total lung sparing left secondary carinal resection and reconstruction is only performed in a few specialized centers in a restricted group of patients. We reviewed our experience to evaluate its safety.
METHODS
Patients who underwent left secondary carinal resection and reconstruction with complete lung parenchymal preservation for low-grade bronchial malignancies at the Shanghai Chest Hospital and the Padua University Hospital were retrospectively reviewed. Clinicopathologic factors and perioperative outcomes were analyzed.
RESULTS
Thirty patients underwent the procedure between July 2012 and July 2019 (mean age, 42.9 years). No operative mortality occurred and postoperative complications developed in 4 patients (13.3%), including pneumonia (n = 3 [10.0%]), subcutaneous emphysema (n = 2 [6.7%]), and prolonged air leak (n = 2 [6.7%]). Pathologies included adenoid cystic carcinoma (n = 11), mucoepidermoid carcinoma (n = 6), carcinoid tumors (n = 9 [8 typical and 1 atypical subtypes]), inflammatory myofibroblastic tumor (n = 3), and myoepithelioma (n = 1). The margins were positive in 8 patients (26.7%), whereas 2 patients (6.7%) had positive lymph nodes. Adjuvant therapies were performed postoperatively, including chemoradiotherapy for positive lymph nodes and radiotherapy for positive margins.
CONCLUSIONS
Total lung sparing left secondary carinal resection and reconstruction can be performed safely in well-selected and oncologically appropriate patients with low-grade bronchial malignancies.
PubMed: 34401852
DOI: 10.1016/j.xjtc.2021.05.013 -
Radiology Case Reports Oct 2021Malignant myoepithelioma of the scrotum is extremely rare. We report the case of a 51-year-old man with malignant myoepithelioma of the scrotum, wherein computed...
Malignant myoepithelioma of the scrotum is extremely rare. We report the case of a 51-year-old man with malignant myoepithelioma of the scrotum, wherein computed tomography and magnetic resonance imaging revealed a lobulated soft tissue mass with calcification, cystic component, and solid component with gradual contrast enhancement on dynamic contrast-enhanced scans. The patient presented with scrotal induration, and there was no elevation of tumor markers and no evidence of a metastatic lesion on computed tomography and magnetic resonance imaging. Histopathological examination of the resected scrotal specimen confirmed a well-circumscribed solid tumor with septa, a small area of hemorrhage, and necrosis. The subsequent diagnosis was malignant myoepithelioma of the scrotum. This case shows that scrotal malignant myoepithelioma might appear as a well-defined lobulated mass with cystic regions. We conjecture that the enhancement pattern and apparent diffusion coefficient values can be potential markers for scrotal myoepithelial tumors.
PubMed: 34401034
DOI: 10.1016/j.radcr.2021.07.013 -
Pathology, Research and Practice Sep 2021Chordoma is a very rare malignant tumor, with a phenotype that recapitulates notochord, and is chiefly located in the axial skeleton with only few cases reported in the...
Chordoma is a very rare malignant tumor, with a phenotype that recapitulates notochord, and is chiefly located in the axial skeleton with only few cases reported in the extra-axial skeleton and soft tissues. The diagnosis can be challenging for both clinicians, radiologists and pathologists because of the rarity of tumor, its unspecific radiological pattern and histomorphological similarities to other tumors like extra-skeletal myxoid chondrosarcoma, soft tissue myoepithelioma and metastatic adenocarcinomas, more so on small biopsies. We present a case of a recurrent extra-axial chordoma with a prominent soft tissue component in the left thumb around proximal phalanx of an 80-year-old man, with detailed report of the histopathological, imaging and most importantly molecular features, which are in conformity with the typical profile of notochordal neoplasms. To the best of our knowledge, we report the first DNA-methylation- and the copy number variation analysis of an extra-axial chordoma with a very rare localization, thumb. With this case study we try to give a better understanding of tumor's specification, lessen the diagnostic confusion by highlighting its extra-axial occurrence, and more importantly present substantial molecular data, which might help in providing more therapeutic opportunities in the future.
Topics: Aged, 80 and over; Biomarkers, Tumor; Chordoma; DNA Copy Number Variations; Humans; Male; Soft Tissue Neoplasms; Thumb
PubMed: 34340129
DOI: 10.1016/j.prp.2021.153564 -
BMJ Case Reports Jul 2021Coined in 1961 by Hirsch and Helwig, the term chondroid syringoma refers to a rare mixed tumour of subcutaneous tissue. Histologically, these tumours are almost...
Coined in 1961 by Hirsch and Helwig, the term chondroid syringoma refers to a rare mixed tumour of subcutaneous tissue. Histologically, these tumours are almost identical to pleomorphic adenomas, arising from salivary glands. With the obvious difference being the presence of sweat gland tissue (syringoma) within a matrix of cartilage (chondroid). These mixed tumours remain scarce throughout the world, with an incidence of less than 0.098%. The vast majority of cases are reported in middle-aged and older adults, where they typically present as painless swellings in the head and neck, which gradually grow in size.
Topics: Adenoma, Pleomorphic; Aged; Child; Head; Humans; Male; Middle Aged; Myoepithelioma; Neck; Sweat Gland Neoplasms
PubMed: 34312123
DOI: 10.1136/bcr-2019-232943 -
Journal of Nippon Medical School =... 2021Epithelial-myoepithelial carcinoma (EMC) is a rare malignant salivary gland tumor that occurs mostly in the parotid gland. We report a case of EMC of the submandibular...
Epithelial-myoepithelial carcinoma (EMC) is a rare malignant salivary gland tumor that occurs mostly in the parotid gland. We report a case of EMC of the submandibular gland in a young man. The patient was aware of a slow-growing mass in the right submandibular gland for 1 year. Clinical examination and ultrasound confirmed a right submandibular mass, 2.5 × 3 cm in size. Ultrasound-guided fine-needle aspiration indicated a diagnosis of pleomorphic adenoma, which was also suggested by magnetic resonance imaging. The submandibular gland tumor was excised. Immunohistochemical analysis showed carcinoma ex pleomorphic adenoma with a major epithelial-myoepithelial component. The patient was not treated with radiotherapy after surgery. No recurrence was observed during 24 months of follow-up. Because the morphology of EMC is similar to that of a benign tumor, it is frequently initially misdiagnosed. Surgery is always the most effective diagnostic and therapeutic measure for salivary gland tumors, especially those that grow slowly. Resection with negative margins is the treatment of choice for EMC; use of adjuvant radiotherapy is controversial.
Topics: Adenoma, Pleomorphic; Adult; Carcinoma; Endoscopic Ultrasound-Guided Fine Needle Aspiration; Humans; Magnetic Resonance Imaging; Male; Myoepithelioma; Neoplasms, Multiple Primary; Submandibular Gland; Submandibular Gland Neoplasms; Treatment Outcome
PubMed: 34193744
DOI: 10.1272/jnms.JNMS.2021_88-309 -
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