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Pathologica Dec 2021The clinicopathological spectrum of INI1 deficient tumors is expanding. Epithelioid sarcoma (ES) is a rare sarcoma of uncertain differentiation, more often occurring in...
The clinicopathological spectrum of INI1 deficient tumors is expanding. Epithelioid sarcoma (ES) is a rare sarcoma of uncertain differentiation, more often occurring in the extremities and uncommonly in the deep soft tissues. Histopathologically, it manifests in the form of classical, proximal, or hybrid types, the latter two characterized by rhabdoid cytomorphology. Immunohistochemically, ESs display loss of INI1/SMARCB1 and genetically associated with high percentage of deletions. We report an extremely uncommon case of a retroperitoneal tumor in a 42-year-old male, who presented with abdominal discomfort. Radiologic imaging disclosed a 12 cm-sized retroperitoneal mass without involvement of any organ parenchyma. The patient underwent tumor excision with left-sided nephrectomy at another hospital. A review of the paraffin-embedded tissue sections revealed a multinodular tumor, composed of dyscohesive epithelioid tumor cells and focally arranged in cords, containing moderate to abundant, eosinophilic cytoplasm, vesicular nuclei, containing prominent nucleoli, including cells with rhabdoid cytomorphology, in a conspicuous myxoid stroma. A focal tumor area resembled proximal-type of ES. Immunohistochemically, tumor cells displayed positivity for pan cytokeratin (AE1/AE3), epithelial membrane antigen (EMA), vimentin and focally for CA125, while these were negative for CD34, S100 protein, CKIT, DOG1, and INI1/SMARCB1. To the best of our knowledge, this constitutes the first case of a malignant tumor with epithelioid morphology, displaying myxoid matrix and loss of INI1/SMARCB1, resembling a myxoid variant of an epithelioid sarcoma and myoepithelioma-like tumor of the vulvar tumor, occurring in the retroperitoneum. A review of similar cases, differential diagnosis and treatment-associated implications are presented.
Topics: Adult; Biomarkers, Tumor; Cell Differentiation; Humans; Male; Retroperitoneal Neoplasms; SMARCB1 Protein; Sarcoma; Soft Tissue Neoplasms
PubMed: 34974552
DOI: 10.32074/1591-951X-250 -
Head and Neck Pathology Sep 2022Myoepithelial carcinoma (MEC) of salivary gland is an uncommon tumor with no specific age or sex predilection. Most of the cases (~90%) arise in parotid and...
High Grade Myoepithelial Carcinoma of Maxillary Sinus with Extensive Rhabdoid Differentiation and INI-1 Loss: Expanding the Histopathological Spectrum of Sinonasal Carcinoma.
Myoepithelial carcinoma (MEC) of salivary gland is an uncommon tumor with no specific age or sex predilection. Most of the cases (~90%) arise in parotid and submandibular glands followed by palate. MEC of maxillary sinus is rare. We describe an extremely rare case of high grade MEC with rhabdoid differentiation and INI-1 loss involving maxillary sinus of an elderly male.
Topics: Aged; Biomarkers, Tumor; Carcinoma; Humans; Immunohistochemistry; Male; Maxillary Sinus; Myoepithelioma; Paranasal Sinus Neoplasms; Salivary Gland Neoplasms
PubMed: 34878636
DOI: 10.1007/s12105-021-01397-3 -
Cureus Oct 2021Sacral chordomas are malignant, locally aggressive, and rare tumors. Its presentation can be diverse on the entire spine, being more frequent in the sacrococcygeal...
Sacral chordomas are malignant, locally aggressive, and rare tumors. Its presentation can be diverse on the entire spine, being more frequent in the sacrococcygeal region. The main treatment is complete surgical resection, which can be performed using different approaches depending on the case. We present the case of a 44-year-old woman with a history of a complex adnexal mass, with an imaging finding of a presacral mass displacing the uterus and rectum, with a histological report of an image-guided biopsy suggestive of a soft-tissue myoepithelioma-like tumor, which was managed with a combined approach: anterior transabdominal laparoscopic and posterior approach, achieving complete tumor resection, without postoperative complications and with the benefits of minimally invasive surgery. The pathology report of the surgical piece was compatible with sacral chordoma.
PubMed: 34786264
DOI: 10.7759/cureus.18690 -
Genes, Chromosomes & Cancer Feb 2022PLAG1 rearrangements have been described as a molecular hallmark of salivary gland pleomorphic adenoma (PA), carcinoma ex pleomorphic adenoma (CEPA), and myoepithelial...
Expanding the clinicopathological spectrum of TGFBR3-PLAG1 rearranged salivary gland neoplasms with myoepithelial differentiation including evidence of high-grade transformation.
PLAG1 rearrangements have been described as a molecular hallmark of salivary gland pleomorphic adenoma (PA), carcinoma ex pleomorphic adenoma (CEPA), and myoepithelial carcinoma (MECA). Several fusion partners have been described, however, commonly no further assignment to the aforementioned entities or a morphological prediction can be made based on the knowledge of the fusion partner alone. In contrast, TGFBR3-PLAG1 fusion has been specifically described and characterized as an oncogenic driver in MECA, and less common in MECA ex PA. Here, we describe the clinicopathological features of three TGFBR3-PLAG1 fusion-positive salivary gland neoplasms, all of which arose in the deep lobe of the parotid gland. Histopathology showed high morphological similarities, encompassing encapsulation, a polylobular growth pattern, bland basaloid and oncocytoid cells with myoepithelial differentiation, and a distinct sclerotic background. All cases showed at least limited, unusual foci of minimal invasion into adjacent salivary gland tissue, including one case with ERBB2 (Her2/neu) amplified, TP53 mutated high-grade transformation, and lymph node metastases. Of note, all cases illustrated focal ductal differentiation. Classification remains difficult, as morphological overlaps between myoepithelial-rich cellular PA, myoepithelioma, and MECA were observed. However, evidence of minimal invasion advocates classification as low-grade MECA. This case series further characterizes the spectrum of uncommon cellular myoepithelial neoplasms harboring TGFBR3-PLAG1 fusion, which show recurrent minimal invasion of the adjacent salivary gland tissue, a predilection to the deep lobe of the parotid gland, and potential high-grade transformation.
Topics: Adenoma, Pleomorphic; Adult; Aged; DNA-Binding Proteins; Gene Rearrangement; Humans; Male; Neoplasm Grading; Oncogene Proteins, Fusion; Parotid Gland; Proteoglycans; Receptors, Transforming Growth Factor beta; Salivary Gland Neoplasms; Transforming Growth Factor beta
PubMed: 34755406
DOI: 10.1002/gcc.23009 -
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 -
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