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Journal of Cutaneous Pathology Jul 2024While the list of fusion-driven soft tissue neoplasms is expanding rapidly, their importance among cutaneous and superficial mesenchymal and adnexal neoplasms remains...
Fusion-driven cutaneous and superficial mesenchymal and adnexal tumors-A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2-rearranged adnexal carcinoma.
BACKGROUND
While the list of fusion-driven soft tissue neoplasms is expanding rapidly, their importance among cutaneous and superficial mesenchymal and adnexal neoplasms remains poorly understood. This challenge is especially evident in cases with ambiguous histopathology that are difficult to classify based on morphology.
AIMS
Our goal was to investigate the benefits of next-generation sequencing in diagnosing complex cutaneous neoplasms.
MATERIALS & METHODS
Departmental archives were searched for fusion-driven cutaneous neoplasms. Slides were retrieved and clinical information including follow-up was obtained.
RESULTS
Fifteen cases occurred in eight female and seven male patients, with a median age of 26 years (range: 1-83) at diagnosis. Tumors involved the extremities (9), scalp (5), and head and neck (1). Predominant features included myoepithelial (5), nested spindled with clear cytoplasm (2), atypical adnexal/squamoid (2), small round blue cell (2), cellular spindled (3), and fibrohistiocytic morphology (1). Most frequently encountered fusions involved EWSR1 (6) fused to ERG (1), FLI1 (1), CREB1 (2), CREM (1), PBX3 (1), followed by PLAG1 (4) with LIFR (2), TRPS1 (1) and CHCHD7. Additional fusions encountered were YAP1::NUTM1, EML4::ALK, SS18::SSX1 (2), and a novel fusion: ACTB::ZMIZ2. Integration of histologic features and molecular findings led to final diagnoses of primary cutaneous Ewing sarcoma (2), soft tissue myoepithelioma (4), cutaneous syncytial myoepithelioma (1), cutaneous adnexal carcinoma (1), porocarcinoma (1), inflammatory myofibroblastic tumor (1), synovial sarcoma (2), clear cell sarcoma (2), and angiomatoid fibrous histiocytoma (1).
DISCUSSION AND CONCLUSION
Our results show that fusion testing can be a helpful diagnostic tool, especially in cases with unusual or uncommon morphology in superficial sites. Furthermore, it can allow for the identification of potential therapeutic targets in some instances.
Topics: Humans; Female; Male; Adult; Skin Neoplasms; Middle Aged; Aged; Child; Adolescent; Aged, 80 and over; Child, Preschool; Infant; Oncogene Proteins, Fusion; High-Throughput Nucleotide Sequencing; Transcription Factors; Neoplasms, Adnexal and Skin Appendage; Young Adult; Gene Rearrangement
PubMed: 38556256
DOI: 10.1111/cup.14610 -
Veterinarni Medicina Feb 2024Here, we report a rare case of concurrent primary splenic lymphoma and mammary gland tumour (MGT) with polycystic ovaries in a 10-year-old, intact female Jindo dog....
Here, we report a rare case of concurrent primary splenic lymphoma and mammary gland tumour (MGT) with polycystic ovaries in a 10-year-old, intact female Jindo dog. The dog was presented with multiple masses in the fourth left mammary gland, the largest of which measured 6 cm in diameter, along with enlargement of the left inguinal lymph node on physical examination. Ultrasonography, radiography, and computed tomography scans revealed polycystic ovaries and a mass in the tail of the spleen, after total splenectomy and mastectomy with ovariohysterectomy, histopathological examination identified splenic diffuse large B cell lymphoma and malignant myoepithelioma of the mammary gland was found. To our knowledge, this is the first report of the concurrent occurrence of splenic lymphoma, MGT, and polycystic ovaries in a dog.
PubMed: 38550622
DOI: 10.17221/99/2023-VETMED -
The American Journal of Surgical... May 2024Recurrent gene fusions are common in salivary gland tumors including benign tumors, such as pleomorphic adenoma (PA) and myoepithelioma (ME). In cases where chromosomal...
Recurrent gene fusions are common in salivary gland tumors including benign tumors, such as pleomorphic adenoma (PA) and myoepithelioma (ME). In cases where chromosomal rearrangement is identified in the pleomorphic adenoma gene 1 (PLAG1) gene, different gene partners are found. Oncocytic metaplasia, characterized by oncocytes with abundant eosinophilic granular cytoplasm and hyperchromatic nuclei, is a well-known phenomenon in salivary gland neoplasms. However, the pure oncocytic variant of PA/ME showed PLAG1 gene rearrangements involving various gene partners at the molecular level, without any recurrent fusion being found. Our study includes 20 cases of PA/ME, with 11 females and 9 males. The age of patients ranged from 37 to 96 years, with a median age of 62.8 years. Most tumors originate from the parotid gland. The median size of the tumor was 26.5 mm (range: 13 to 60 mm). Among the 20 cases, 14 were a pure oncocytic variant of PA/ME, whereas 6 cases showed focal oncocytic or oncocytic-like aspects. Molecular studies on 20 cases of PA/ME were conducted. A novel recurrent ZBTB47-AS1::PLAG1 fusion was identified in 6 of 12 cases with pure oncocytic metaplasia, whereas the other cases had PLAG1 gene fusion with different gene partners. The transcriptomic analysis of the cases harboring ZBTB47-AS1::PLAG1 fusion demonstrated that these tumors have a distinct molecular profile from conventional PA/ME. This study reveals a unique subset in the oncocytic PA/ME spectrum characterized by pure oncocytic morphology with larger oncocytic cells and recurrent ZBTB47-AS1::PLAG1 fusion. It also highlights the transcriptomic distinctness of salivary gland adenomas with pure oncocytic metaplasia in the spectrum of salivary gland neoplasms. Further studies are needed to better understand the oncocytic variant of PA/ME and to determine the true nature of oncocytic cells in PA/ME.
Topics: Male; Female; Humans; Middle Aged; Adult; Aged; Aged, 80 and over; Adenoma, Pleomorphic; Myoepithelioma; DNA-Binding Proteins; Salivary Gland Neoplasms; Gene Fusion; Adenoma, Oxyphilic; Metaplasia
PubMed: 38497430
DOI: 10.1097/PAS.0000000000002206 -
Annales de Pathologie May 2024
Topics: Humans; Biomarkers, Tumor; Carcinoma, Basal Cell; Cell Differentiation; Diagnosis, Differential; Myoepithelioma; Skin Neoplasms
PubMed: 38448266
DOI: 10.1016/j.annpat.2024.02.004 -
Indian Journal of Otolaryngology and... Feb 2024Myoepitheliomas are uncommon neoplasms of major and minor salivary glands. These tumours are encapsulated and slow growing in nature and are benign in majority of the...
Myoepitheliomas are uncommon neoplasms of major and minor salivary glands. These tumours are encapsulated and slow growing in nature and are benign in majority of the cases. The mean age of presentation is 40 years and this entity is rarely reported in younger age groups. Here, we seek to report a rare case of a 10-year-old patient who presented with a swelling below the right ear. Clinical and radiological evaluation revealed a mass in the parotid gland. This patient was treated with a superficial parotidectomy and subsequent histopathological examination revealed it to be a myoepithelioma.
PubMed: 38440509
DOI: 10.1007/s12070-023-04199-x -
Acta Cytologica Feb 2024Salivary gland lesions possess diagnostic challenges on fine needle aspiration (FNA) material. They are relatively uncommon, yet present with a wide spectrum of... (Review)
Review
BACKGROUND
Salivary gland lesions possess diagnostic challenges on fine needle aspiration (FNA) material. They are relatively uncommon, yet present with a wide spectrum of cytomorphology. Herein, we review common salivary gland neoplasms, their cytomorphologic features, their diagnostic pitfalls, and ancillary studies helpful in achieving an accurate diagnosis.
SUMMARY
There are many cytomorphologic overlaps between benign and malignant salivary gland entities. Moreover, metaplasia, cystic changes, and degenerative changes are common findings adding to diagnostic dilemmas. These complicating factors contribute to a minute risk of malignancy in salivary gland lesions that are interpreted as benign on FNA. In rare cases, even malignant salivary gland neoplasms are misinterpreted as benign on aspirated material due to the many cytomorphologic overlaps. For example, benign and malignant neoplasms containing stroma such as myoepithelioma and adenoid cystic carcinoma may be misinterpreted as pleomorphic adenoma. Moreover, diagnosis of salivary gland neoplasms with basal cell features can be confusing on FNA materials; for example, basal cell adenoma can be misinterpreted as adenoid cystic carcinoma. Mucoepidermoid carcinomas have many different appearances on aspirated material due to variable amounts of mucin, degree of nuclear atypia, cellular content, and squamous metaplasia. Acinic cell carcinoma exhibits large cells with abundant cytoplasm on FNA, which can be mistaken for oncocytic cells in oncocytoma or Warthin tumor. Salivary duct carcinoma shows distinct features of malignancy and thus can be mistaken for secondary tumors involving the salivary glands or other malignant salivary gland tumors. The presence of tumor-associated lymphocytes is another underlying cause of misdiagnosis, especially when considering the differential diagnosis of an an intraparotid lymph node. Ancillary studies such as immunohistochemistry and molecular studies are gaining more attention to be utilized on FNA cases. PLAG1 immunostaining, CD117 , DOG1, mammaglobin, and androgen receptor (AR) are examples of commonly used immunostains in diagnosis of salivary gland lesions. MYB gene fusion , rearrangements of the MAML2 gene, ,and ERBB2/HER2 are examples of molecular alterations useful in diagnosis of salivary gland neoplasms. In conclusion, the aim of salivary gland cytology is to differentiate benign entities from the malignant ones and to prevent unnecessary aggressive treatments.
PubMed: 38417405
DOI: 10.1159/000538069 -
Asian Journal of Surgery May 2024
Extended resection followed by anterolateral thigh flap repair for a patient with recurrent epithelial-myoepithelial carcinoma of the parotid gland undergoing radiotherapy after the primary surgery.
Topics: Humans; Male; Myoepithelioma; Neoplasm Recurrence, Local; Parotid Gland; Parotid Neoplasms; Plastic Surgery Procedures; Surgical Flaps; Thigh; Treatment Outcome; Aged
PubMed: 38383180
DOI: 10.1016/j.asjsur.2024.01.146 -
Hand Surgery & Rehabilitation Apr 2024
Topics: Humans; Myoepithelioma; Fingers; Soft Tissue Neoplasms; Male; Female
PubMed: 38360300
DOI: 10.1016/j.hansur.2024.101668 -
Indian Journal of Pathology &... 2024Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among...
Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among which adeno-myoepithelial adenosis is one of the rare morphologies published in the literature with the tendency to recur and poses a risk for low-grade malignant transformation. Here, we report a case of a young female who had a history of recurrent breast lump mimicking phyllodes tumor and eventually diagnosed as adeno-myoepithelial adenosis on histopathological examination. Benign proliferative breast diseases are well recognized in young females. Benign biphasic proliferation of epithelial and myoepithelial cells has been observed, among which adeno-myoepithelial adenosis is one of the rare morphologies published in the literature with the tendency to recur and poses a risk for low-grade malignant transformation. Here, we report a case of a young female who had a history of recurrent breast lump mimicking phyllodes tumor and eventually diagnosed as adeno-myoepithelial adenosis on histopathological examination.
Topics: Female; Humans; Phyllodes Tumor; Neoplasm Recurrence, Local; Fibrocystic Breast Disease; Epithelial Cells; Hyperplasia; Cell Transformation, Neoplastic; Breast Neoplasms; Myoepithelioma
PubMed: 38358228
DOI: 10.4103/ijpm.ijpm_925_22 -
World Journal of Surgical Oncology Jan 2024A malignant myoepithelioma is a rare tumor, mostly arising from the salivary glands. Myoepitheliomas of the ear have rarely been reported. The manuscript reports... (Review)
Review
BACKGROUND
A malignant myoepithelioma is a rare tumor, mostly arising from the salivary glands. Myoepitheliomas of the ear have rarely been reported. The manuscript reports myoepithelial carcinoma of the external auditory canal (EAC) spreading to the infratemporal fossa. A clinician must be aware of anatomical variation of the bony EAC wall, such as the foramen of Huschke. This rare defect may be a pathway for spreading pathologies between these two anatomical regions.
CASE REPORT
We present a case of osteoma-like stenosis of the EAC, which turned out to be an extremely rare malignant tumor. The preoperative MRI and PET/CT revealed that two parts of the tumor communicated through a defect in the antero-inferior portion of the bony ear canal. No distant metastases were detected. Subsequently, the tumor was resected from the ear canal and the infratemporal fossa en bloc. Perioperatively the defect in the EAC wall was suspected of the foramen of Huschke. After the surgery, the older scans of the patient from the past showed no presence of a congenital EAC wall defect. Therefore, the authors concluded that the tumor aggressively grew through the bone due to its biological nature.
CONCLUSION
Malignant myoepithelioma of the external auditory canal is an extremely rare condition and could be misdiagnosed as other benign lesions. In cases of suspicious lesions, it is advisable to do a probatory biopsy from the EAC. Surgery is the treatment of choice in malignant myoepitheliomas, and regular follow-ups are essential to monitor for recurrence or metastatic disease. Any mass located at the antero-inferior portion of the EAC wall warrants close evaluation due to its potential for expansion from the EAC.
Topics: Humans; Ear Canal; Myoepithelioma; Clinical Relevance; Positron Emission Tomography Computed Tomography; Carcinoma
PubMed: 38268020
DOI: 10.1186/s12957-024-03317-5