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International Journal of Clinical and... 2015We report one case of yolk sac tumor of the ear and review the literature. The patient was a 9-month boy who scratched his right ear repeatedly one month ago. Computed... (Review)
Review
We report one case of yolk sac tumor of the ear and review the literature. The patient was a 9-month boy who scratched his right ear repeatedly one month ago. Computed tomography scan showed an irregular elongated mass image measuring 42×16 mm was found in the right external auditory canal. The tumor was located underneath of the epidermis with ulceration. Mild or moderate atypical round or oval tumor cells were arranged in nest and reticular pattern around vesicular or cystic spaces. Tumor cells had abundant eosinophilic or clear cytoplasm and marked nucleoli. Mitotic figures were about 7/10 HPF. Poorly formed Schiller-Duvall body was occasionally present. The stroma was loose and rich in capillaries. Hyaline globules could be found in the stroma. Immunohistochemistry staining showed that tumor cells were positive for cytokeratin, SALL4, glypican-3, focal positive for EMA, vimentin, CD10, and CD34, but negative for a-fetoprotein, HCG, PLAP. The serum α-fetoprotein was 664.60 ng/mL (normal, ≤ 25 ng/mL). Yolk sac tumor of the ear is extremely rare, especially α-fetoprotein negative expression in our case. The differential diagnosis includes embryonal rhabdomyosarcoma, paraganglioma, myoepithelioma, carcinoma of skin appendages, and metastatic renal cell carcinoma.
Topics: Biomarkers, Tumor; Ear Canal; Ear Neoplasms; Endodermal Sinus Tumor; Humans; Immunohistochemistry; Infant; Male
PubMed: 26823835
DOI: No ID Found -
Nature Communications Oct 2017Myoepithelial carcinoma (MECA) is an aggressive salivary gland cancer with largely unknown genetic features. Here we comprehensively analyze molecular alterations in 40...
Myoepithelial carcinoma (MECA) is an aggressive salivary gland cancer with largely unknown genetic features. Here we comprehensively analyze molecular alterations in 40 MECAs using integrated genomic analyses. We identify a low mutational load, and high prevalence (70%) of oncogenic gene fusions. Most fusions involve the PLAG1 oncogene, which is associated with PLAG1 overexpression. We find FGFR1-PLAG1 in seven (18%) cases, and the novel TGFBR3-PLAG1 fusion in six (15%) cases. TGFBR3-PLAG1 promotes a tumorigenic phenotype in vitro, and is absent in 723 other salivary gland tumors. Other novel PLAG1 fusions include ND4-PLAG1; a fusion between mitochondrial and nuclear DNA. We also identify higher number of copy number alterations as a risk factor for recurrence, independent of tumor stage at diagnosis. Our findings indicate that MECA is a fusion-driven disease, nominate TGFBR3-PLAG1 as a hallmark of MECA, and provide a framework for future diagnostic and therapeutic research in this lethal cancer.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Cell Line, Tumor; DNA-Binding Proteins; Female; Genomics; HEK293 Cells; Humans; In Situ Hybridization, Fluorescence; Male; Middle Aged; Mutation; Myoepithelioma; Oncogene Fusion; Oncogene Proteins, Fusion; Receptor, Fibroblast Growth Factor, Type 1; Salivary Gland Neoplasms; Sequence Analysis, DNA; Young Adult
PubMed: 29084941
DOI: 10.1038/s41467-017-01178-z -
Molecular and Clinical Oncology Jul 2018Following breast and lung cancers, renal cell carcinoma (RCC) is the third most frequent cancer to metastasize to the head and neck region, though such cases are rarely...
Following breast and lung cancers, renal cell carcinoma (RCC) is the third most frequent cancer to metastasize to the head and neck region, though such cases are rarely reported. Distinguishing between malignant tumors of salivary gland origin and metastatic RCC is very important. The case of a 75-year-old man with an oral cavity lesion in the left buccal submucosa measuring 40×30 mm that had grown substantially over several weeks is presented. His medical history included left kidney cancer 26 years earlier and a malignant myoepithelioma of the left buccal region 7 years earlier. It was suspected that this lesion was a recurrent malignant myoepithelioma as it appeared at the same site as the previous operation. Surgery was performed, and metastatic RCC was confirmed upon pathological examination. The diagnosis of metastatic RCC was made by immunohistochemical examination, which also excluded malignant myoepithelioma and other clear cell carcinomas of salivary gland origin. Metastatic RCC must be considered in the differential diagnosis of a new oral cavity lesion presenting in a patient with a past history of kidney cancer. Thus, immunohistochemical staining is required to distinguish malignancies of salivary gland origin, including malignant myoepithelioma, from metastatic RCC.
PubMed: 29896402
DOI: 10.3892/mco.2018.1630 -
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 -
Biomedical and Environmental Sciences :... Sep 2022
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International Journal of Clinical and... 2017We describe a rare intraosseous myoepithelioma, arising in a rib. The patient was a 14-year-old female. The tumor, composed of epitheliod cells and plump spindle cells,...
We describe a rare intraosseous myoepithelioma, arising in a rib. The patient was a 14-year-old female. The tumor, composed of epitheliod cells and plump spindle cells, was immunopositive for AE1/AE3, S-100 protein, HHF-35, desmin, smooth muscle actin (SMA), CD10, and c-kit, indicating a diagnosis of myoepithelioma. The tumor had invaded surrounding soft tissues, indicating a locally aggressive tumor. Positive staining for CD10 supported the diagnosis of myoepithelioma. To our knowledge, c-kit immunoreactivity has not been reported in intraosseous myoepithelioma. This form of myoepithelioma, arising in a rib and showing c-kit positivity, is very rare.
PubMed: 31966761
DOI: No ID Found -
Surgical Neurology International 2023Myoepithelial tumors have been widely described as a rare form of salivary gland neoplasm, although currently soft-tissue phenotypes have also been identified. These are...
BACKGROUND
Myoepithelial tumors have been widely described as a rare form of salivary gland neoplasm, although currently soft-tissue phenotypes have also been identified. These are tumors composed entirely of myoepithelial cells that exhibit a dual epithelial and smooth muscle phenotype. The occurrence of myoepithelial tumors within the central nervous system is also extremely rare, with only a few cases reported. Treatment options include surgical resection, chemotherapy, radiotherapy, or a combination of these approaches.
CASE DESCRIPTION
The authors present a case of soft-tissue myoepithelial carcinoma with an unusual brain metastasis, rarely described in the literature. The purpose of this article is to present an update on the diagnosis and treatment of this pathology when affecting the central nervous system, through the review of the current evidence.
CONCLUSION
However, despite complete surgical resection, there is about a significative high rate of local recurrence and metastasis. Careful patient follow-up and staging is essential for better characterization and understanding of this tumor's behavior.
PubMed: 36895250
DOI: 10.25259/SNI_55_2023 -
JACC. Case Reports Feb 2023Myoepithelioma of the soft tissue is a rare entity that can mimic myxoma when presenting within the heart. We present a case where cardiopulmonary bypass venous cannula...
Myoepithelioma of the soft tissue is a rare entity that can mimic myxoma when presenting within the heart. We present a case where cardiopulmonary bypass venous cannula extraction catheter removal of an intracardiac myoepithelioma was attempted with minimal debulking and subsequently required minimally invasive open-heart surgery with cardiopulmonary bypass. ().
PubMed: 36776791
DOI: 10.1016/j.jaccas.2022.101698 -
Asian Journal of Neurosurgery 2020Myoepithelial tumor (MET) of bone is an unusual tumor of uncertain differentiation and histogenesis. Although its presence in various bones has been reported sparsely,...
Myoepithelial tumor (MET) of bone is an unusual tumor of uncertain differentiation and histogenesis. Although its presence in various bones has been reported sparsely, the presentation in clivus as primary myoepithelial carcinoma (MEC) has never been reported. They resemble their salivary gland counterparts morphologically and immunohistochemically, but harbor distinct molecular phenotype. At present, moderate nuclear atypia is the acceptable criteria to differentiate MEC from myoepithelioma. Because of their rarity, wide histopathological spectrum, and intraosseous location, MET of bone is easily confused with a variety of primary bone and cartilaginous tumors. Application of immunohistochemistry and, if required, molecular testing are required for making a correct diagnosis. In this article, we describe an extremely rare case of a primary MEC arising from the clivus, which owing to unusual location and immunohistochemical profile was diagnostically challenging.
PubMed: 33708682
DOI: 10.4103/ajns.AJNS_144_20 -
Modern Pathology : An Official Journal... Jul 2015Epithelioid benign fibrous histiocytoma, also known as 'epithelioid cell histiocytoma,' has traditionally been considered a morphologic variant of cutaneous fibrous...
Epithelioid benign fibrous histiocytoma, also known as 'epithelioid cell histiocytoma,' has traditionally been considered a morphologic variant of cutaneous fibrous histiocytoma (dermatofibroma). In addition to its characteristic epithelioid cytomorphology, several phenotypic differences suggest that epithelioid fibrous histiocytoma may differ biologically from other variants. Recently, ALK rearrangement was described in two cases of epithelioid fibrous histiocytoma and separately in two cases reported as 'atypical' fibrous histiocytoma (with epithelioid features), with corresponding ALK expression detectable by immunohistochemistry. The goals of this study were to determine the frequency of ALK expression by immunohistochemistry in epithelioid fibrous histiocytoma, to determine its value for the diagnosis of epithelioid fibrous histiocytoma among variants and other histologic mimics, and to evaluate ALK gene rearrangement in epithelioid fibrous histiocytoma. ALK protein expression was evaluated in whole tissue sections from 33 epithelioid fibrous histiocytomas, 41 other cases of fibrous histiocytoma (11 conventional and 10 each cellular, atypical, and aneurysmal types), 10 cutaneous syncytial myoepitheliomas, and 5 atypical fibroxanthomas, using a mouse anti-ALK monoclonal antibody. Fluorescence in situ hybridization (FISH) was performed using break-apart probes. In total, 29/33 (88%) cases of epithelioid fibrous histiocytoma showed diffuse cytoplasmic ALK expression. Staining was moderate to strong in intensity in all cases except one, which showed diffuse weak expression. All other tumor types were negative for ALK expression. FISH demonstrated ALK rearrangement in all ALK-immunoreactive cases evaluated (n=13), and not in one ALK expression-negative epithelioid fibrous histiocytoma successfully examined. In conclusion, the majority of epithelioid fibrous histiocytomas demonstrate ALK expression and ALK gene rearrangement. ALK expression is not seen in other variants of fibrous histiocytoma, providing a useful diagnostic tool to distinguish epithelioid fibrous histiocytoma from most histologic mimics. The expression of ALK suggests that epithelioid fibrous histiocytoma is a biologically distinct tumor type, unrelated to conventional fibrous histiocytoma and histologic variants.
Topics: Anaplastic Lymphoma Kinase; Diagnosis, Differential; Epithelioid Cells; Gene Expression Regulation, Neoplastic; Gene Rearrangement; Histiocytoma, Benign Fibrous; Humans; Receptor Protein-Tyrosine Kinases; Skin Neoplasms
PubMed: 25857825
DOI: 10.1038/modpathol.2015.49