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Gene fusions in superficial mesenchymal neoplasms: Emerging entities and useful diagnostic adjuncts.Seminars in Diagnostic Pathology Jul 2023Cutaneous mesenchymal neoplasms are diagnostically challenging because of their overlapping morphology, and, often, the limited tissue in skin biopsy specimens.... (Review)
Review
Cutaneous mesenchymal neoplasms are diagnostically challenging because of their overlapping morphology, and, often, the limited tissue in skin biopsy specimens. Molecular and cytogenetic techniques have identified characteristic gene fusions in many of these tumor types, findings that have expanded our understanding of disease pathogenesis and motivated development of useful ancillary diagnostic tools. Here, we provide an update of new findings in tumor types that can occur in the skin and superficial subcutis, including dermatofibrosarcoma protuberans, benign fibrous histiocytoma, epithelioid fibrous histiocytoma, angiomatoid fibrous histiocytoma, glomus tumor, myopericytoma/myofibroma, non-neural granular cell tumor, CIC-rearranged sarcoma, hybrid schwannoma/perineurioma, and clear cell sarcoma. We also discuss recently described and emerging tumor types that can occur in superficial locations and that harbor gene fusions, including nested glomoid neoplasm with GLI1 alterations, clear cell tumor with melanocytic differentiation and ACTIN::MITF translocation, melanocytic tumor with CRTC1::TRIM11 fusion, EWSR1::SMAD3-rearranged fibroblastic tumor, PLAG1-rearranged fibroblastic tumor, and superficial ALK-rearranged myxoid spindle cell neoplasm. When possible, we discuss how fusion events mediate the pathogenesis of these tumor types, and we also discuss the related diagnostic and therapeutic implications of these events.
Topics: Humans; Glomus Tumor; Skin Neoplasms; Histiocytoma, Malignant Fibrous; Gene Fusion; Transcription Factors; Biomarkers, Tumor; Tripartite Motif Proteins; Ubiquitin-Protein Ligases
PubMed: 37156707
DOI: 10.1053/j.semdp.2023.04.014 -
Asian Journal of Surgery Oct 2023
Topics: Humans; Myopericytoma; Magnetic Resonance Imaging
PubMed: 37286461
DOI: 10.1016/j.asjsur.2023.05.067 -
British Journal of Neurosurgery Jun 2024Malignant myopericytoma is an exceedingly rare soft tissue tumour with only 14 documented cases in the scientific literature. Myopericytomas can occur in association... (Review)
Review
Malignant myopericytoma is an exceedingly rare soft tissue tumour with only 14 documented cases in the scientific literature. Myopericytomas can occur in association with HIV-AIDS and have a predilection for internal organs such as the bronchus, larynx, liver and brain. Ebstein-Barr virus encoded small RNA(EBER) was positive in three out of 14 cases. In this case report we present the second documented case of a malignant myopericytoma, with a positive EBER found intracranially - specifically in the supratentorial compartment - invading the superior sagittal sinus. Gross total excision of the tumour was achieved, and the patient responded well with no recurrence with only highly active antiretroviral therapy (HAART). No chemotherapy or radiotherapy has been necessary.
Topics: Humans; Myopericytoma; Male; Brain Neoplasms; Middle Aged; Antiretroviral Therapy, Highly Active; Magnetic Resonance Imaging; HIV Infections; Female; Adult
PubMed: 34259108
DOI: 10.1080/02688697.2021.1950630 -
Journal of Radiology Case Reports May 2023This case study presents a 66-year-old man referred to the Otolaryngology and Head and Neck Surgery department due to a one-history of persistent pain in the left...
This case study presents a 66-year-old man referred to the Otolaryngology and Head and Neck Surgery department due to a one-history of persistent pain in the left posterior cervical region. No abnormalities were detected in the oral and pharyngeal regions during clinical and endoscopic examinations. Subsequently, a magnetic resonance imaging revealed a lesion (14 × 12 × 14 mm) into the left parapharyngeal space, with high signal intensity on T2-weighted images, enhancement after contrast medium, restricted signal on diffusion weighted imaging and high vascularization on perfusion MRI. The histological examination of the lesion led to a diagnosis of myopericitoma. Post-surgery, no adjuvant therapy was administered. Myopericytomas are rare soft-tissue benign neoplasms, predominantly reported in extremities, with a limited number of cases in the head and neck region and almost never described in the literature with elective localization in the parapharyngeal space.
Topics: Humans; Male; Aged; Magnetic Resonance Imaging; Pharyngeal Neoplasms; Parapharyngeal Space; Myopericytoma; Contrast Media; Diagnosis, Differential
PubMed: 38828029
DOI: 10.3941/jrcr.v17i12.5186 -
Journal of Ultrasound Apr 2024
PubMed: 38637472
DOI: 10.1007/s40477-024-00884-x -
Orbit (Amsterdam, Netherlands) Jun 2024A 5-year-old girl presented with a 6-month history of strabismus and painless left proptosis. Magnetic resonance imaging revealed a homogenously enhancing, anterior,...
A 5-year-old girl presented with a 6-month history of strabismus and painless left proptosis. Magnetic resonance imaging revealed a homogenously enhancing, anterior, superomedial, left orbital mass. Excisional biopsy established the diagnosis of orbital glomangiopericytoma. Glomangiopericytoma of soft tissue is a perivascular myoid neoplasm with hemangiocytoma-like vascular channels that has overlapping features between glomus tumor and myopericytoma. To the authors' knowledge, glomangiopericytoma of the orbit has not previously been reported.
Topics: Humans; Female; Orbital Neoplasms; Child, Preschool; Magnetic Resonance Imaging; Exophthalmos; Hemangiopericytoma; Glomus Tumor; Biopsy; Strabismus
PubMed: 36469586
DOI: 10.1080/01676830.2022.2151629 -
Medicine Dec 2023Intravascular myopericytomas are a rare type of myopericytomas. In most previously reported cases, these were benign, occurred on the legs or neck, and had low... (Review)
Review
INTRODUCTION
Intravascular myopericytomas are a rare type of myopericytomas. In most previously reported cases, these were benign, occurred on the legs or neck, and had low recurrence rates. We have described a unique case of an intravascular myopericytoma that caused spontaneous deep vein thrombosis.
MAIN SYMPTOMS, IMPORTANT CLINICAL FINDINGS, AND MAIN DIAGNOSES
A 37-year-old man presented with sudden-onset pain and swelling in the upper arm; physical examination revealed a 10 cm, palpable, firm, and mobile lesion in the upper arm. A biopsy revealed intravascular myopericytoma; immunohistological examination revealed a lesion in the lumen of the basilic vein. The tumor comprised abundant myxoid stroma with spindle cells proliferating in a concentric perivascular manner around the blood vessel. The tumor cells stained positive for CD34 and smooth muscle actin.
THERAPEUTIC INTERVENTIONS AND OUTCOMES
The patient underwent total excision of the mass under local anesthesia; no recurrence was observed thereafter. A literature review was performed using PubMed and Google Scholar; the key terms were "intravascular myopericytoma" and "IVMP." Nineteen cases of intravascular myopericytomas across 14 articles published between January 2002 and January 2022 were identified. These involved 11 men and 7 women (sex was unknown in 1 case); the ages were 22 to 80 years (mean: 59.8 ± 14 years). In most cases, the tumor was slow-growing, and the etiology was previous surgical history or trauma. No pain was reported by patients with tumors on the face or feet, and no recurrence was observed after surgery in any of the reported cases. Immunohistochemical staining for smooth muscle actin, h-caldesmon, calponin, and CD34 was performed for differential diagnosis. Contrary to the slow-growing nature reported in the literature, the nature related to growing in the present case was unclear that lesion was discovered because of sudden pain caused by thrombosis. However, the diagnostic method and recurrence rate in our case were similar to those in the previously reported cases.
CONCLUSION
Our case shows that although intravascular myopericytomas are rare, they can cause spontaneous thrombosis. They have low recurrence rates after complete resection. Spontaneous deep vein thrombosis that occurs in rare locations must be treated after determining the causes.
Topics: Adult; Female; Humans; Male; Actins; Arm; Myopericytoma; Pain; Thrombosis; Venous Thrombosis; Young Adult; Middle Aged; Aged; Aged, 80 and over
PubMed: 38065911
DOI: 10.1097/MD.0000000000036566 -
BMC Oral Health Apr 2024Myopericytoma is a rare spindle cell tumor of mesenchymal origin, typically benign, characterized by concentric proliferation of tumor cells around blood vessels within... (Review)
Review
BACKGROUND
Myopericytoma is a rare spindle cell tumor of mesenchymal origin, typically benign, characterized by concentric proliferation of tumor cells around blood vessels within subcutaneous tissue. It primarily occurs in middle-aged adults and is often located in distal extremities, although cases have been reported in proximal extremities and head-neck regions. However, occurrences within the oral cavity are exceedingly rare. To date, literature reviews have identified only two cases in children under 10 years old and reported only five cases of myopericytoma occurring in the lip region. We provide a comprehensive review and analysis of all documented cases to better understand this condition.
CASE PRESENTATION
A 7-year-old girl presented to oral and maxillofacial surgery with the discovery of a painless mass on the inner aspect of the upper lip. The diagnosis of myopericytoma was confirmed by histological examination (HE staining), alcian blue staining, and immunohistochemistry.
CONCLUSIONS
Following surgical excision, there were no signs of recurrence at a 3-month follow-up. The pathological diagnosis of myopericytoma is quite challenging, and immunohistochemical testing is necessary.
Topics: Adult; Middle Aged; Female; Humans; Child; Myopericytoma; Hemangiopericytoma; Lip; Immunohistochemistry
PubMed: 38643070
DOI: 10.1186/s12903-024-04106-y -
Journal of Microscopy and Ultrastructure 2024Although myopericytoma and glomangiopericytoma are considered the subtypes of the group myopericytomas (MPC), they differ morphologically. Both of the tumors arise from...
Although myopericytoma and glomangiopericytoma are considered the subtypes of the group myopericytomas (MPC), they differ morphologically. Both of the tumors arise from pericytic cells. Scalp MPC are infrequent, but extranasal glomangiopericytomas are extremely rare. Herein, we report a case of a 36-year-old female presenting with slowly growing scalp swelling. Histopathology showed a dermal tumor with features of myopericytoma as well as glomangiopericytoma within the same lesion. Immunohistochemistry and reticulin staining confirmed pericytic origin but could not differentiate between the two tumors. This case report adds to the rarity and morphologic heterogeneity of the group MPC.
PubMed: 38633573
DOI: 10.4103/jmau.jmau_7_21