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Virchows Archiv : An International... Nov 2021Myoepithelial neoplasms of soft tissue are rare tumors with clinical, morphological, immunohistochemical, and genetic heterogeneity. The morphological spectrum of these...
Myoepithelial neoplasms of soft tissue are rare tumors with clinical, morphological, immunohistochemical, and genetic heterogeneity. The morphological spectrum of these tumors is broad, and the diagnosis often requires immunostaining to confirm myoepithelial differentiation. Rarely, tumors show a morphology that is typical for myoepithelial neoplasms, while the immunophenotype fails to confirm myoepithelial differentiation. For such lesions, the term "myoepithelioma-like" tumor was introduced. Recently, two cases of myoepithelioma-like tumors of the hands and one case of the foot were described with previously never reported OGT-FOXO gene fusions. Here, we report a 50-year-old woman, with a myoepithelial-like tumor localized in the soft tissue of the forearm and carrying a OGT-FOXO1 fusion gene. Our findings extend the spectrum of mesenchymal tumors involving members of the FOXO family of transcription factors and point to the existence of a family of soft tissue tumors that carry the gene fusion of the OGT-FOXO family.
Topics: Biomarkers, Tumor; Female; Forearm; Forkhead Box Protein O1; Gene Fusion; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Middle Aged; Myoepithelioma; N-Acetylglucosaminyltransferases; Soft Tissue Neoplasms; Treatment Outcome
PubMed: 33506328
DOI: 10.1007/s00428-021-03026-4 -
BMJ Case Reports Jan 2021Myoepithelial tumours are a rare form of salivary gland neoplasm, and their occurrence in the central nervous system is exceedingly rare. The authors report the case of... (Review)
Review
Myoepithelial tumours are a rare form of salivary gland neoplasm, and their occurrence in the central nervous system is exceedingly rare. The authors report the case of an 18-year-old Filipino man presenting with headache and weakness, and on imaging showing an extensive parasagittal tumour at the left posterior parietal area with extracalvarial extension. There was no systemic disease. The patient underwent surgery to excise the tumour, with histopathology showing findings consistent with myoepithelioma. There was no further treatment, given the benign histology of the lesion, but there was recurrence after 8 months. Repeat surgery was done for the patient and he is for adjuvant radiotherapy. This appears to be the 10th reported case of a central nervous myoepithelioma, and the first case in the Philippines of a primary parasagittal myoepithelioma in a paediatric patient. Further information is needed to provide diagnostic and therapeutic recommendations.
Topics: Adolescent; Brain Neoplasms; Cerebral Angiography; Humans; Male; Myoepithelioma; Neoplasm Recurrence, Local; Parietal Lobe; Philippines; Radiotherapy, Adjuvant
PubMed: 33504518
DOI: 10.1136/bcr-2020-236479 -
International Journal of Surgery Case... Feb 2021Diagnosis and treatment of rare diseases are challenging because experience and evidence are limited. Primary tracheal tumors have a low prevalence but awareness of...
INTRODUCTION AND IMPORTANCE
Diagnosis and treatment of rare diseases are challenging because experience and evidence are limited. Primary tracheal tumors have a low prevalence but awareness of these is important to avoid misdiagnoses. We present a first case of a tracheal microcystic reticular schwannoma in which diagnosis and treatment recommendations were revised several times resulting in months of anxious uncertainty for the patient before complete resection and extensive histopathologic examination were performed.
CASE PRESENTATION
A 65-year old woman complained about coughing and cervical pain. Tomographies revealed a tumor of the dorsolateral trachea. After repeated biopsies pathologists and tumorboards in different hospitals could not agree on diagnosis or treatment recommendation, so the impatient patient opted for a complete resection for definite treatment.
CLINICAL DISCUSSION
Neoplasms of the posterior mediastinum are mainly neurogenic. In rare cases they may originate in the trachea and can be difficult to differentiate from other tumor entities if only biopsies are available. Although the preoperative diagnosis was unclear, tracheal resection was performed successfully. The differential diagnoses of soft tissue sarcoma or myoepithelioma were discarded and a benign, microcystic, reticular schwannoma was confirmed by international reference pathologists.
CONCLUSION
Microcystic, reticular schwannoma is a rare variant and may occur in the trachea. Diagnosis of such rare neoplasms can be difficult, resulting in delayed or suboptimal treatment. Often biopsies are not sufficient to reach a definite diagnosis. But even without preoperative histology, tracheal resection is a safe and feasible option for definitive treatment with very low recurrence rates.
PubMed: 33485177
DOI: 10.1016/j.ijscr.2021.01.016 -
The American Journal of Surgical... Jul 2021Epithelial-myoepithelial carcinoma (EMC) is a rare salivary gland cancer characterized by biphasic tubular structures composed of inner ductal and outer clear... (Comparative Study)
Comparative Study
Epithelial-myoepithelial carcinoma (EMC) is a rare salivary gland cancer characterized by biphasic tubular structures composed of inner ductal and outer clear myoepithelial cells. Because of its histologic variety and overlap of histologic features with other salivary gland tumors, there are broad differential diagnoses. The HRAS Q61R mutation has been reported to be frequent in and specific to EMC. We evaluated the usefulness of RAS Q61R mutant-specific immunohistochemical (IHC) staining for detecting this genetic alteration in EMC. We investigated 83 EMC cases and 66 cases of salivary gland tumors with an EMC-like component, including pleomorphic adenoma, adenoid cystic carcinoma, basal cell adenoma/adenocarcinoma, and myoepithelial carcinoma. Sanger sequencing was performed for HRAS, KRAS, and NRAS. The diffuse and membranous/cytoplasmic RAS Q61R IHC expression was observed in 65% of EMC cases, in which all cases harbored the HRAS Q61R mutation. IHC-positive cases were present only in de novo EMCs (54/76 cases, 71%) but not in EMCs ex pleomorphic adenoma. The immunoreactivity was almost always restricted to the myoepithelial cells. Conversely, all EMC cases lacking the HRAS Q61R mutation were negative on IHC. In addition, only 3% of EMC-like tumors showed the abovementioned immunopositivity. None of the cases examined carried KRAS or NRAS mutations. IHC for RAS Q61R is highly sensitive and specific for detecting the HRAS Q61R mutation in EMC. Since significant immunopositivity was almost exclusively identified in nearly two thirds of EMCs but seldom in the histologic mimics, the IHC of RAS Q61R is a useful tool for diagnosing EMC in general pathology laboratories.
Topics: Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; DNA Mutational Analysis; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Japan; Male; Middle Aged; Mutation; Myoepithelioma; Neoplasms, Glandular and Epithelial; Predictive Value of Tests; Proto-Oncogene Proteins p21(ras); Reproducibility of Results; Retrospective Studies; Salivary Gland Neoplasms
PubMed: 33481388
DOI: 10.1097/PAS.0000000000001673 -
Genes, Chromosomes & Cancer Jul 2021Recurrent fusions between OGT and members of the Forkhead box (FOXO) family of genes have been recently described in three cases of hyalinizing epithelioid acral soft...
Recurrent fusions between OGT and members of the Forkhead box (FOXO) family of genes have been recently described in three cases of hyalinizing epithelioid acral soft tissue tumors in young adults showing co-expression for EMA and CD34. Despite the lack of an established myoepithelial lineage by immunohistochemistry, these lesions have been labeled as myoepithelioma-like due to their epithelioid phenotype and sclerotic background. In this study, we report a novel FOXO4-OGT fusion identified by targeted RNA sequencing in an unclassified shoulder soft tissue mass in a 40-year-old male. The tumor showed nodular foci of increased cellularity in a uniformly hyalinized background. The neoplastic cells were mainly epithelioid and focally spindled, with eosinophilic cytoplasm and indented nuclei with mild atypia. The tumor lacked significant mitotic activity and necrosis. Immunohistochemically, the tumor showed variable positivity for EMA, pan-CK, CD34, ERG and FLI1, while it was negative for CD31, S100, SOX10, desmin, and MUC4. INI1 expression was retained. Due to its unusual histology and conflicting immunoprofile, TruSight RNA fusion panel sequencing was performed which revealed a fusion between FOXO4 exon 2 to OGT exon 2. This is the first example of a soft tissue lesion harboring OGT-related fusions occurring in a non-acral location and associated with FOXO4 gene. Its line of differentiation and biologic potential remain uncertain.
Topics: Adult; Cell Cycle Proteins; Epithelioid Cells; Forkhead Transcription Factors; Humans; Male; N-Acetylglucosaminyltransferases; Oncogene Proteins, Fusion; Soft Tissue Neoplasms
PubMed: 33455033
DOI: 10.1002/gcc.22937 -
Molecular and Clinical Oncology Feb 2021[This corrects the article DOI: 10.3892/mco.2018.1630.].
[This corrects the article DOI: 10.3892/mco.2018.1630.].
PubMed: 33437478
DOI: 10.3892/mco.2020.2204 -
Polish Journal of Pathology : Official... 2021Mixed tumor of the vagina is a benign neoplasm usually developing in the posterior and distal vaginal wall, close to the hymen, with almost all reported cases exhibiting...
Mixed tumor of the vagina is a benign neoplasm usually developing in the posterior and distal vaginal wall, close to the hymen, with almost all reported cases exhibiting no or little cellular pleomorphism and rare mitotic activity. The present paper presents a case of a 30 year-old pregnant patient also known to have human immunodeficiency virus (HIV) infection in which a mixed tumor of the vagina was identified and completely surgically removed. Microscopic examination revealed a predominant spindle cell component characterized by high mitotic activity and mild cellular pleomorphism admixed with a minor epithelial component mainly represented by glandular structures lacking atypia and mitoses. Close follow-up showed that the high mitotic index has no prognostic significance in mixed tumor of the vagina, as our patient is well at 3 years after the initial diagnosis.
Topics: Adenoma, Pleomorphic; Adult; Female; Humans; Mitotic Index; Myoepithelioma; Prognosis; Vaginal Neoplasms
PubMed: 35308007
DOI: 10.5114/pjp.2021.114183 -
Journal of Cancer Research and... Dec 2020Epithelial-myoepithelial carcinoma (EMC) is a biphasic low-grade malignant tumor that shows ductal structures lined by the ductal cells with surrounding myoepithelial...
Epithelial-myoepithelial carcinoma (EMC) is a biphasic low-grade malignant tumor that shows ductal structures lined by the ductal cells with surrounding myoepithelial cells. EMC is most commonly reported in the parotid gland followed by other major and minor salivary glands. EMC of the tongue is an extremely uncommon tumor, with only five previously published case reports. We herein report the sixth case of EMC of the tongue. A 40-year-old female who had throat pain, dysphagia, and right earache for 3 years showed a 4 cm × 4 cm nodular tumor at the base of her tongue. Histopathological and immunohistochemical features were diagnostic of EMC with cervical lymph node metastasis. The metastatic behavior of EMC of the tongue in the absence of myoepithelial anaplasia or high-grade histological features is unusual and reported in this case report for the first time.
Topics: Adult; Female; Humans; Lymphatic Metastasis; Myoepithelioma; Neoplasms, Glandular and Epithelial; Prognosis; Tongue Neoplasms
PubMed: 33380686
DOI: 10.4103/jcrt.JCRT_840_17 -
Acta Medica Okayama Dec 2020Soft tissue myoepitheliomas are often misdiagnosed due to their rarity. Herein, we describe a case of soft tissue myoepithelioma of the shoulder. A 72-year-old woman had...
Soft tissue myoepitheliomas are often misdiagnosed due to their rarity. Herein, we describe a case of soft tissue myoepithelioma of the shoulder. A 72-year-old woman had a suspected sarcoma on her shoulder and under-went open biopsy. She was referred to our hospital, where the tumor was widely resected and the diagnosis of myoepithelioma was histologically confirmed. No recurrence has been observed in the 3 years since the sur-gery. Careful and prompt planning is necessary for the effective treatment of myoepithelioma.
Topics: Aged; Diagnosis, Differential; Female; Humans; Magnetic Resonance Imaging; Myoepithelioma; Shoulder; Soft Tissue Neoplasms
PubMed: 33361874
DOI: 10.18926/AMO/61213 -
Cancer Dec 2020This article describes a case of metastatic, bulky, high‐grade, rapidly progressive myoepithelial carcinoma with fusion originating from the left kidney that...
This article describes a case of metastatic, bulky, high‐grade, rapidly progressive myoepithelial carcinoma with fusion originating from the left kidney that demonstrated a dramatic, deep response within 2 cycles of treatment with a regimen used for patients with Ewing sarcoma and an ongoing sustained response of >10 months. To the author's knowledge, this is the first report of a rapid and deep response using a systemic therapy regimen in a patient with myoepithelial carcinoma with fusion.
Topics: Black or African American; Antineoplastic Combined Chemotherapy Protocols; Cyclophosphamide; Dactinomycin; Humans; Liver Neoplasms; Male; Myoepithelioma; Neoplasm Grading; Octamer Transcription Factor-3; Oncogene Proteins, Fusion; RNA-Binding Protein EWS; Sarcoma, Ewing; Tomography, X-Ray Computed; Treatment Outcome; Vincristine; Young Adult
PubMed: 33048366
DOI: 10.1002/cncr.33220