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Genes, Chromosomes & Cancer Jan 2023The RREB1::MRTFB (former RREB1::MKL2) fusion characterizes ectomesenchymal chondromyxoid tumors (EMCMT) of the tongue. Only five molecularly confirmed extra-glossal...
RREB1::MRTFB fusion-positive extra-glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversity.
The RREB1::MRTFB (former RREB1::MKL2) fusion characterizes ectomesenchymal chondromyxoid tumors (EMCMT) of the tongue. Only five molecularly confirmed extra-glossal EMCMT cases have been reported recently; all occurring at head and neck or mediastinal sites. We herein describe five new cases including the first two extracranial/extrathoracic cases. The tumors occurred in three male and two female patients with an age ranging from 18 to 61 years (median, 28). Three tumors were located in the head and neck (jaw, parapharyngeal space, and nasopharyngeal wall) and two in the soft tissue (inguinal and presacral). The tumor size ranged from 3.3 to 20 cm (median, 7). Treatment was surgical without adjuvant treatment in all cases. Two cases were disease-free at 5 and 17 months; other cases were lost to follow-up. Histologically, the soft tissue cases shared a predominant fibromyxoid appearance, but with variable cytoarchitectural pattern (cellular perineurioma-like whorls and storiform pattern in one case and large polygonal granular cells embedded within a chondromyxoid stroma in the other). Two tumors (inguinal and parapharyngeal) showed spindled to ovoid and round cells with a moderately to highly cellular nondescript pattern. One sinonasal tumor closely mimicked nasal chondromesenchymal hamartoma (NCMH). Mitotic activity was low (0-5 mitoses/10 hpfs). Immunohistochemical findings were heterogeneous with variable expression of S100 (2/5), EMA (2/3), CD34 (1/4), desmin (1/4), and GFAP (1/3). Targeted RNA sequencing revealed the same RREB1::MRTFB fusion in all cases, with exon 8 of RREB1 being fused to exon 11 of MRTFB. This study expands the topographic spectrum of RREB1::MRTFB fusion-positive mesenchymal neoplasms, highlighting a significant morphological and phenotypic diversity. Overall, RREB1::MRTFB-rearranged neoplasms seem to fall into two subcategories: tumors with lobulated, chondroid, or myxochondroid epithelioid morphology (Cases 2 and 3) and those with more undifferentiated hypercellular spindle cell phenotype (Cases 1, 4, and 5). Involvement of extracranial/extrathoracic sites and the NCMH-like pattern are novel. The biology of these likely indolent or benign tumors remains to be verified in the future.
Topics: Male; Female; Humans; Biomarkers, Tumor; Tongue Neoplasms; Gene Fusion; Myoepithelioma; Phenotype; Soft Tissue Neoplasms; DNA-Binding Proteins; Transcription Factors
PubMed: 35763541
DOI: 10.1002/gcc.23082 -
Journal of Cardiothoracic Surgery May 2022Endotracheal tumors are rare in the respiratory system. Myoepitheliomas are benign tumors, which are rarely reported in the respiratory system. Herein, we report a rare... (Review)
Review
BACKGROUND
Endotracheal tumors are rare in the respiratory system. Myoepitheliomas are benign tumors, which are rarely reported in the respiratory system. Herein, we report a rare case of endotracheal myoepithelioma, which was resected by rigid bronchoscopy.
CASE PRESENTATION
A 36-year-old man, presenting with chest pain, dyspnea, stridor, and hemoptysis, was referred to our center with radiological features of near-total tracheal obstruction due to mass. Fiberoptic bronchoscopy with argon plasma coagulation and rigid bronchoscopy with grasper forceps was utilized to resect the mass. Pathological evaluation of the mass demonstrated myoepithelioma. The patient was discharged in good condition. Now, after 6 months, the patient is symptom-free with no evidence of tumor recurrence or re-growth.
CONCLUSIONS
Despite being extremely rare, myoepithelioma should be considered a possible differential diagnosis for endotracheal tumors. Fiberoptic and rigid bronchoscopy management is an effective method for the resection of endotracheal tumors.
Topics: Adult; Airway Obstruction; Bronchoscopy; Humans; Male; Myoepithelioma; Neoplasm Recurrence, Local; Trachea
PubMed: 35606819
DOI: 10.1186/s13019-022-01880-0 -
BMJ Case Reports May 2022A young pregnant woman presented to the emergency department with acute lower abdominal pain. The ultrasound examination showed not only a viable fetus with a...
A young pregnant woman presented to the emergency department with acute lower abdominal pain. The ultrasound examination showed not only a viable fetus with a gestational age of 24 weeks but also a heteroechoic mass of about 7×7 cm involving parts of the face. The patient was found to be in active labour with rapid progression, and she gave birth to a dead female neonate. The autopsy showed a large malignant mixed tumour of the left parotid gland and revealed infection with cytomegalovirus. To our knowledge, this is the first reported case of a malignant mixed tumour of salivary glands in fetuses.
Topics: Carcinoma; Cytomegalovirus Infections; Female; Humans; Infant; Infant, Newborn; Mixed Tumor, Malignant; Myoepithelioma; Parotid Gland; Parotid Neoplasms; Pregnancy; Salivary Glands
PubMed: 35568413
DOI: 10.1136/bcr-2021-248616 -
The American Journal of Case Reports Apr 2022BACKGROUND Breast adenomyoepithelioma is a rare benign breast tumor characterized by a biphasic proliferation of epithelial and myoepithelial cells with variable...
BACKGROUND Breast adenomyoepithelioma is a rare benign breast tumor characterized by a biphasic proliferation of epithelial and myoepithelial cells with variable clinical and diagnostic features. Establishing the diagnosis, determining optimal therapy, and predicting outcome are problematic because of the rarity of this entity. There have been only 2 large series of adenomyoepitheliomas of the breast, reported by Tavassoli and Rosen, which included 27 and 18 patients, respectively. In this report, we present 3 cases of breast adenomyoepithelioma. CASE REPORT Herein, we report 3 cases of breast adenomyoepithelioma. The first case is of a 64-year-old woman who was found to have right breast microcalcification on a screening mammogram. The second case is of a 74-year-old woman who had a right breast mass. These 2 patients were managed by wide local excision. Postoperative microscopic examination revealed adenomyoepithelioma. The third case is of a 49-year-old woman with bilateral saline breast implants who presented with a left breast mass. A core needle biopsy was done and revealed adenomyoepithelioma associated with usual ductal hyperplasia and ductal carcinoma in situ. CONCLUSIONS Breast adenomyoepithelioma is a rare condition that can pose diagnostic challenges due to variable imaging presentations, necessitating percutaneous core biopsy for initial diagnosis. Correct diagnosis is usually possible only on excisional biopsy and confirmed by demonstrating the biphasic nature of the tumor by IHC. Clinical suspicion coupled with utilizing both radiological and histopathological facilities can aid in the accurate diagnosis and management. For the most part, they are considered to be benign, but they can locally recur.
Topics: Adenomyoepithelioma; Aged; Breast; Breast Neoplasms; Carcinoma, Intraductal, Noninfiltrating; Female; Humans; Middle Aged; Myoepithelioma; Neoplasm Recurrence, Local
PubMed: 35400730
DOI: 10.12659/AJCR.936070 -
BMJ Case Reports Mar 2022Mucoepidermoid carcinoma (MEC) and adenomyoepithelioma (AME) are uncommon neoplasms of the breast that are more commonly noted in the salivary glands. AMEs are benign...
Mucoepidermoid carcinoma (MEC) and adenomyoepithelioma (AME) are uncommon neoplasms of the breast that are more commonly noted in the salivary glands. AMEs are benign tumours that are known to undergo malignant transformation. This report describes the first case of a MEC arising in AME in a woman in her 50s.
Topics: Adenomyoepithelioma; Breast; Breast Neoplasms; Carcinoma, Mucoepidermoid; Female; Humans; Myoepithelioma
PubMed: 35321911
DOI: 10.1136/bcr-2021-247281 -
The Annals of Thoracic Surgery Jan 2023Primary epithelial-myoepithelial carcinoma of the lung is an extremely rare histologic form that originates in the bronchial glands. Pulmonary epithelial-myoepithelial...
Primary epithelial-myoepithelial carcinoma of the lung is an extremely rare histologic form that originates in the bronchial glands. Pulmonary epithelial-myoepithelial carcinoma in the peripheral lung is extremely rare, and multiple primary pulmonary epithelial-myoepithelial carcinoma has not been reported to date. Here, we report a case of pulmonary epithelial-myoepithelial carcinoma presenting as multiple synchronous lesions. The patient underwent two treatments by video-assisted thoracic surgery within 3 years. At the 4-month follow-up, the patient had no evidence of recurrence. In conclusion, our case report may contribute to the understanding of pulmonary epithelial-myoepithelial carcinoma.
Topics: Humans; Myoepithelioma; Carcinoma; Lung; Lung Neoplasms; Thorax
PubMed: 35278413
DOI: 10.1016/j.athoracsur.2022.02.043 -
Journal For Immunotherapy of Cancer Mar 2022Vaccination against COVID-19 is critical for immuno-compromised individuals, including patients with cancer. Systemic reactogenicity, a manifestation of the innate...
Vaccination against COVID-19 is critical for immuno-compromised individuals, including patients with cancer. Systemic reactogenicity, a manifestation of the innate immune response to vaccines, occurs in up to 69% of patients following vaccination with RNA-based COVID-19 vaccines. Tumor regression can occur following an intense immune-inflammatory response and novel strategies to treat cancer rely on manipulating the host immune system. Here, we report spontaneous regression of metastatic salivary gland myoepithelial carcinoma in a patient who experienced grade 3 systemic reactogenicity, following vaccination with the mRNA-1273 COVID-19 vaccine. Histological and immunophenotypic inspection of the postvaccination lung biopsy specimens showed a massive inflammatory infiltrate with scant embedded tumor clusters (<5%). Highly multiplexed imaging mass cytometry showed that the postvaccination lung metastasis samples had remarkable immune cell infiltration, including CD4+ T cells, CD8+ T cells, natural killer cells, B cells, and dendritic cells, which contrasted with very low levels of these cells in the prevaccination primary tumor and lung metastasis samples. CT scans obtained 3, 6, and 9 months after the second vaccine dose demonstrated persistent tumor shrinkage (50%, 67%, and 73% reduction, respectively), suggesting that vaccination stimulated anticancer immunity. This case suggests that the mRNA-1273 COVID-19 vaccine stimulated anticancer immunity and tumor regression.
Topics: 2019-nCoV Vaccine mRNA-1273; B-Lymphocytes; CD4-Positive T-Lymphocytes; CD8-Positive T-Lymphocytes; Female; Humans; Immunity, Innate; Immunogenicity, Vaccine; Lung Neoplasms; Middle Aged; Myoepithelioma; Parotid Neoplasms
PubMed: 35241495
DOI: 10.1136/jitc-2021-004371 -
Cancers Jan 2022Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex... (Review)
Review
Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological diagnosis challenging. Recent findings have revealed a wide spectrum of oncogenic drivers, several of which are of diagnostic interest for pathologists. Most of these molecular alterations are represented by gene fusions, which are shared with other homologous neoplasms occurring in organs containing exocrine glands, such as salivary and breast glands, which show similarities to the sweat apparatus. This review aims to provide a synthesis of the most recent immunohistochemical and molecular markers used for the diagnosis of sweat gland tumors and to highlight their relationship with similar tumors in other organs. It will cover adenoid cystic carcinoma (, and fusion), cutaneous mixed tumor ( fusion), cylindroma and spiradenoma and their carcinomas thereof (NF-κB activation through inactivation or hotspot mutation), hidradenoma and hidradenocarcinoma ( fusion), myoepithelioma ( and fusion), poroma and porocarcinoma (, and fusion), secretory carcinoma (, fusion), tubular adenoma and syringo-cystadenoma papilliferum ( and activating mutations). Sweat gland tumors for which there are no known molecular abnormalities will also be briefly discussed, as well as potential future developments.
PubMed: 35158743
DOI: 10.3390/cancers14030476 -
Head and Neck Pathology Sep 2022Pleomorphic adenoma (PA) is the most common biphasic type of salivary gland tumour to arise in adults. It is a biphasic tumour composed of both luminal (ductal) cells...
Pleomorphic adenoma (PA) is the most common biphasic type of salivary gland tumour to arise in adults. It is a biphasic tumour composed of both luminal (ductal) cells and abluminal (basal and myoepithelial) cells. Other biphasic salivary gland type tumours, both benign and malignant, can mimic PA, especially on small biopsies. Previous studies have shown that glial fibrillary acidic protein (GFAP) is preferentially expressed in PA and can be useful in the distinction from other salivary gland tumours. However, most of these studies were performed on a small subset of tumour types at a time when the classification of salivary gland type tumours was less refined. The purpose of this study was to assess the expression of glial fibrillary acidic protein (GFAP) in a broad group of both benign and malignant salivary gland tumours. The expression of GFAP was assessed in 99 tumours including 54 PAs, 5 basal cell adenomas, 1 myoepitheliomas, 5 adenoid cystic carcinomas, 6 epithelial-myoepithelial carcinomas (EMCA), 6 mucoepidermoid carcinomas, 7 salivary duct carcinomas, 1 adenocarcinomas NOS, 2 myoepithelial carcinomas, 4 basal cell adenocarcinomas, 5 acinic cell carcinomas and 3 polymorphous adenocarcinomas. Of the malignant cases, 8 were classified as carcinomas ex PA. GFAP was also assessed in 19 concurrent biopsy specimens. GFAP was expressed in the resections of 51 PAs examined (94%). Expression was predominantly strong and diffusely seen in myoepithelial cells. Strong and diffuse GFAP expression was also seen in two EMCAs (33%) and one myoepithelial carcinoma (50%). On biopsy specimens, 100% of PAs and basal cell adenomas expressed GFAP. GFAP was also seen in 1 out of 3 carcinomas ex PAs on biopsies. Almost all PAs show strong and diffuse expression of GFAP. In contrast, most malignant neoplasms that can mimic PA on biopsies show only rare, focal expression. Other benign tumours composed of abluminal/myoepithelial cells also show focal expression of GFAP, highlighting the spectrum these tumours share with PA. Overall, the presence of strong and diffuse GFAP expression can favour a benign neoplasm, specifically a PA, on limited biopsy specimens.
Topics: Adenoma; Adenoma, Pleomorphic; Adult; Biomarkers, Tumor; Carcinoma; Carcinoma, Acinar Cell; Glial Fibrillary Acidic Protein; Humans; Immunohistochemistry; Myoepithelioma; Salivary Gland Neoplasms
PubMed: 35064902
DOI: 10.1007/s12105-021-01409-2 -
The American Journal of Case Reports Jan 2022BACKGROUND Adenomyoepithelioma and adenoid cystic carcinoma are uncommon types of breast tumors. Adenoid cystic carcinoma accounts for 0.1% of breast neoplasms and...
BACKGROUND Adenomyoepithelioma and adenoid cystic carcinoma are uncommon types of breast tumors. Adenoid cystic carcinoma accounts for 0.1% of breast neoplasms and typically presents as a tender breast tumor, mostly in the subareolar area. Adenoid cystic carcinoma usually appears in women in the fifth or sixth decade of life and predominantly presents as a mixed tumor, with cribriform, tubular, and solid growth characteristics. Adenomyoepithelioma of the breast shows epithelial and smooth muscle characteristics. Adenomyoepithelioma rarely goes through malignant transformation and is an uncommon type of benign breast tumor. CASE REPORT Our study reviews the current published literature regarding the combination of these 2 rare neoplasms of the breast and shows a rare case of a 48-year-old woman with a combination of adenoid cystic carcinoma and adenomyoepithelioma. CONCLUSIONS The combination of adenoid cystic carcinoma and adenomyoepithelioma should be part of the differential diagnosis in breast cancer. More research is needed regarding the optimal therapy, which is currently surgical excision.
Topics: Adenomyoepithelioma; Breast; Breast Neoplasms; Carcinoma, Adenoid Cystic; Female; Humans; Middle Aged; Myoepithelioma
PubMed: 35064096
DOI: 10.12659/AJCR.934391