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Internal Medicine (Tokyo, Japan) 2012Myopericytoma is a benign tumor composed of cells that show apparent differentiation towards putative perivascular myoid cells called myopericytes. To date, only a small... (Review)
Review
Myopericytoma is a benign tumor composed of cells that show apparent differentiation towards putative perivascular myoid cells called myopericytes. To date, only a small number of series describing myopericytomas have been reported. Here, we report a case of pulmonary myopericytoma presenting as multiple nodules in a 26-year-old man. Clinical presentation, radiological features and histopathologic findings of the patient are also discussed. The result of the histology combined with the immunohistochemical analysis led to a diagnosis of myopericytomas. To our knowledge, this is the first report of myopericytoma showing pulmonary involvement.
Topics: Actins; Adult; Antigens, CD34; Biomarkers, Tumor; Biopsy; Diagnosis, Differential; Humans; Lung Neoplasms; Magnetic Resonance Imaging; Male; Neoplasms, Multiple Primary; Pericytes; Platelet Endothelial Cell Adhesion Molecule-1; Pneumonectomy; Soft Tissue Neoplasms; Tomography, X-Ray Computed; Vimentin
PubMed: 22449675
DOI: 10.2169/internalmedicine.51.6531 -
Human Pathology Jan 2016Perivascular soft tissue tumors are relatively uncommon neoplasms of unclear lineage of differentiation, although most are presumed to originate from or differentiate to...
Perivascular soft tissue tumors are relatively uncommon neoplasms of unclear lineage of differentiation, although most are presumed to originate from or differentiate to pericytes or a modified perivascular cell. Among these, glomus tumor, myopericytoma, and angioleiomyoma share a spectrum of histologic findings and a perivascular growth pattern. In contrast, solitary fibrous tumor was once hypothesized to have pericytic differentiation--although little bona fide evidence of pericytic differentiation exists. Likewise the perivascular epithelioid cell tumor (PEComa) family shares a perivascular growth pattern, but with distinctive dual myoid-melanocytic differentiation. RGS5, regulator of G-protein signaling 5, is a novel pericyte antigen with increasing use in animal models. Here, we describe the immunohistochemical expression patterns of RGS5 across perivascular soft tissue tumors, including glomus tumor (n = 6), malignant glomus tumor (n = 4), myopericytoma (n = 3), angioleiomyoma (n = 9), myofibroma (n = 4), solitary fibrous tumor (n = 10), and PEComa (n = 19). Immunohistochemical staining and semi-quantification was performed, and compared to αSMA (smooth muscle actin) expression. Results showed that glomus tumor (including malignant glomus tumor), myopericytoma, and angioleiomyoma shared a similar diffuse immunoreactivity for RGS5 and αSMA across all tumors examined. In contrast, myofibroma, solitary fibrous tumor and PEComa showed predominantly focal to absent RGS5 immunoreactivity. These findings further support a common pericytic lineage of differentiation in glomus tumors, myopericytoma and angioleiomyoma. The pericyte marker RGS5 may be of future clinical utility for the evaluation of pericytic differentiation in soft tissue tumors.
Topics: Actins; Adolescent; Adult; Aged; Aged, 80 and over; Angiomyoma; Biomarkers, Tumor; Cell Differentiation; Cell Lineage; Female; Glomus Tumor; Hemangiopericytoma; Humans; Immunohistochemistry; Male; Middle Aged; Myofibroma; Pericytes; Perivascular Epithelioid Cell Neoplasms; RGS Proteins; Soft Tissue Neoplasms; Solitary Fibrous Tumors; Young Adult
PubMed: 26558691
DOI: 10.1016/j.humpath.2015.09.013 -
Modern Pathology : An Official Journal... Mar 2023Pericytic tumors are subclassified as myopericytomas, myofibromas, angioleiomyomas, and glomus tumors according to the current World Health Organization classification....
Pericytic tumors are subclassified as myopericytomas, myofibromas, angioleiomyomas, and glomus tumors according to the current World Health Organization classification. These pericytic tumors form a continuous morphologic spectrum, including those with combined morphology. However, to our knowledge, no widely accepted criteria for classifying tumors with combined morphology are available. Recent studies have identified platelet-derived growth factor receptor-beta (PDGFRB) gene mutations in a subset of myofibromas, myopericytomas, and myopericytomatoses but not in angioleiomyomas. NOTCH receptor 3 (NOTCH3) mutations have been reported in a subset of infantile myofibromatosis. To assess their potential role in classifying pericytic tumors, we investigated PDGFRB and NOTCH3 mutations in 41 pericytic tumors of variable morphology, including some combined forms. Our results show these mutations to be present in a variety of pericytic tumors, such as myopericytomas (PDGFRB, 3/11; NOTCH3, 4/11), myopericytomatoses (1/2; 1/2), myofibromas (3/6; 0/6), angioleiomyomas (2/13; 3/13), and glomus tumors (5/9; 1/9). Point mutations were identified in 3 tumors in PDGFRB exon 12 (Y562C, S574F, and G576S), 12 tumors in PDGFRB exon 14 (M655I, H657L, and N666K), and 9 tumors in NOTCH3 exon 25 (A1480S/T, D1481N, G1482S, T1490A, E1491K, G1494S, and V1512A). All PDGFRB mutations and NOTCH3 G1482S, T1490A, and G1494S mutations were classified as "deleterious/damaging" by ≥4 of 6 pathogenicity prediction tools in silico. Five-mutation-positive tumors, including 1 myopericytoma-angioleiomyoma, 2 myopericytomatoses-myofibroma, 1 myofibroma-myopericytoma and 1 angioleiomyoma-myopericytoma, were of combined morphology. Therefore, we found PDGFRB and NOTCH3 mutations to be detectable in a much wider variety of pericytic tumors than previously reported and confirmed myopericytomas, myofibromas, angioleiomyomas, and glomus tumors as members harboring PDGFRB or NOTCH3 mutations. Our results thus suggest that PDGFRB or NOTCH3 mutations are not useful for subclassifying members of the pericytic tumor family.
Topics: Humans; Myopericytoma; Angiomyoma; Glomus Tumor; Myofibroma; Receptor, Platelet-Derived Growth Factor beta; Mutation; Receptor, Notch3
PubMed: 36788105
DOI: 10.1016/j.modpat.2022.100070 -
The American Journal of Surgical... Jan 2020Pericytic tumors comprise a histologic continuum of neoplasms with perivascular myoid differentiation, which includes glomus tumors, myopericytoma, myofibroma, and...
Pericytic tumors comprise a histologic continuum of neoplasms with perivascular myoid differentiation, which includes glomus tumors, myopericytoma, myofibroma, and angioleiomyoma. Despite their morphologic overlap, recent data suggest a dichotomy in their genetic signatures, including recurrent NOTCH gene fusions in glomus tumors and PDGFRB mutations in myofibromas and myopericytomas. Moreover, SRF-RELA fusions have been described in a subset of cellular variants of myofibroma and myopericytoma showing myogenic differentiation. Triggered by an index case of an unclassified cellular myoid tumor showing a novel SRF-ICA1L fusion we have investigated our files for cases showing similar histology and screened them using a combined approach of targeted RNA sequencing and fluorescence in situ hybridization. A fusion between SRF exon 4 and ICA1L exon 10 or 11 was identified in a total of 4 spindle cell tumors with similar clinicopathologic features. Clinically, the tumors were deep-seated and originated in the trunk or proximal lower extremity of adult patients (age range: 23 to 55 y). Histologically, the tumors were composed of cellular fascicles of monomorphic eosinophilic spindle cells showing increased mitotic activity, harboring densely hyalinized stroma, often with focal areas of necrosis. All 4 tumors had similar immunoprofiles with positivity for smooth muscle actin, calponin, and smooth muscle myosin heavy chain. Tumors were negative for desmin and caldesmon, markers often seen in SRF-RELA-positive tumors with similar morphology. Follow-up information was available in 3 patients. Two patients had no evidence of disease, 2 and 5 years after surgical resection. One patient, a 35-year-old male patient with a 19 cm deep-seated tumor with brisk mitotic activity (>20 mitoses in 10 HPF), developed lung metastases 7 years after initial diagnosis. In summary, we report a series of 4 cellular myoid tumors with novel SRF-ICA1L gene fusions, characterized by bland spindle cell fascicular growth, expression of specific smooth muscle markers, elevated mitotic activity, marked stromal hyalinization, focal coagulative necrosis, and potential for malignant behavior. Given the morphologic overlap with related cellular myopericytic tumors with SRF-RELA fusions, it is likely that SRF-ICA1L fusions define a similar subset of neoplasms composed of immature smooth muscle cells.
Topics: Adult; Angiomyoma; Autoantigens; Cell Transformation, Neoplastic; Cohort Studies; Female; Gene Fusion; Glomus Tumor; Humans; Male; Middle Aged; Myofibroma; Myopericytoma; Serum Response Factor; Young Adult
PubMed: 31478943
DOI: 10.1097/PAS.0000000000001336 -
Diagnostics (Basel, Switzerland) Oct 2022Myopericytoma is a rare vessel wall tumor, a subtype of hemangiopericytoma that usually develops subcutaneously. Intravascular myopericytoma is a rarer subtype, with...
Myopericytoma is a rare vessel wall tumor, a subtype of hemangiopericytoma that usually develops subcutaneously. Intravascular myopericytoma is a rarer subtype, with only few cases reported in the literature and even fewer with imaging modalities included. We report the case of a 36-year-old man who was referred to our institution with a painless, palpable mass in the right arm and was evaluated with MRI, grey-scale and Doppler-mode ultrasound. Tumor histopathology and imaging characteristics are presented together with the role that each imaging modality played in the management of the patient.
PubMed: 36292162
DOI: 10.3390/diagnostics12102473 -
Ear, Nose, & Throat Journal Jan 2023A myopericytoma in the auricle is rare. If an auricle contains a large, firm, red-brown mass, excision should be considered because the mass may be a myopericytoma....
A myopericytoma in the auricle is rare. If an auricle contains a large, firm, red-brown mass, excision should be considered because the mass may be a myopericytoma. After excision, histopathological and immunohistochemical diagnoses are essential to rule out malignancy. Long-term follow-up is required because the tumor is slow-growing.
Topics: Humans; Neoplasms
PubMed: 33356520
DOI: 10.1177/0145561320984576 -
Human Pathology Aug 2016Pericytes are modified smooth muscle cells that closely enwrap small blood vessels, regulating and supporting the microvasculature through direct endothelial contact....
Pericytes are modified smooth muscle cells that closely enwrap small blood vessels, regulating and supporting the microvasculature through direct endothelial contact. Pericytes demonstrate a distinct immunohistochemical profile, including expression of smooth muscle actin, CD146, platelet-derived growth factor receptor β, and regulator of G-protein signaling 5. Previously, pericyte-related antigens have been observed to be present among a group of soft tissue tumors with a perivascular growth pattern, including glomus tumor, myopericytoma, and angioleiomyoma. Similarly, malignant tumor cells have been shown to have a pericyte-like immunoprofile when present in a perivascular location, seen in malignant melanoma, glioblastoma, and adenocarcinoma. Here, we examine well-differentiated liposarcoma specimens, which showed some element of perivascular areas with the appearance of smooth muscle (n = 7 tumors). Immunohistochemical staining was performed for pericyte antigens, including smooth muscle actin, CD146, platelet-derived growth factor receptor β, and regulator of G-protein signaling 5. Results showed consistent pericytic marker expression among liposarcoma tumor cells within a perivascular distribution. MDM2 immunohistochemistry and fluorescence in situ hybridization for MDM2 revealed that these perivascular cells were of tumor origin (7/7 tumors), whereas double immunohistochemical detection for CD31/CD146 ruled out an endothelial cell contribution. These findings further support the concept of pericytic mimicry, already established in diverse malignancies, and its presence in well-differentiated liposarcoma. The extent to which pericytic mimicry has prognostic significance in liposarcoma is as yet unknown.
Topics: Actins; Adult; Aged; Biomarkers, Tumor; Biopsy; CD146 Antigen; Cell Differentiation; Female; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Lipoma; Liposarcoma; Male; Middle Aged; Molecular Mimicry; Pericytes; Phenotype; Proto-Oncogene Proteins c-mdm2; RGS Proteins; Receptor, Platelet-Derived Growth Factor beta; Retrospective Studies
PubMed: 27063472
DOI: 10.1016/j.humpath.2016.03.008 -
The American Journal of Case Reports May 2024BACKGROUND Soft tissue tumors have various subtypes, among which sarcomas exhibit high malignant potential and poor prognosis. Malignant epithelioid tumor with GLI1... (Review)
Review
BACKGROUND Soft tissue tumors have various subtypes, among which sarcomas exhibit high malignant potential and poor prognosis. Malignant epithelioid tumor with GLI1 alterations was originally found in myopericytoma with t(7;12) translocation. However, recent studies indicated that it is a distinct tumor type characterized by multiple nodular distributions of oval or round epithelioid cells with a rich capillary network and a lack of specific immunophenotype. There are only a few cases reported worldwide and the optimal treatment is still being explored. CASE REPORT We report the case of a 31-year-old patient who presented with severe anemia and a large soft tissue mass in the duodenum. The patient underwent surgical resection with a negative margin, and none of the 15 lymph nodes tested positive for the tumor. Postoperative pathology and FISH testing further confirmed the presence of GLI1 disruption and S-100 and SMA negativity. Genetic testing revealed the ACTB-GLI1 fusion. No specific medication was offered after the surgery. No tumor recurrence was found during the 23-month follow-up period. The patient's quality of life is currently satisfactory. CONCLUSIONS Soft tissue sarcomas characterized by GLI1 gene rearrangement have a relatively less aggressive and metastatic nature, with the solid mass spreading minimally even as it grows. Patients can benefit from surgical resection, resulting in a relatively long period of tumor-free survival.
Topics: Humans; Adult; Zinc Finger Protein GLI1; Sarcoma; Duodenal Neoplasms; Gene Rearrangement; Male
PubMed: 38778503
DOI: 10.12659/AJCR.943271 -
Medicine Apr 2021Myopericytoma of the parotid gland is a rare condition of which preoperative definitive diagnosis is relatively challenging. The purpose of this case report is to... (Review)
Review
RATIONALE
Myopericytoma of the parotid gland is a rare condition of which preoperative definitive diagnosis is relatively challenging. The purpose of this case report is to highlight the radiologic features of myopericytoma of parotid gland.
PATIENT CONCERNS
A 62-year-old man presented with a history of a walnut-size mass in left parotid gland when yawned for half-month, and a 48-year-old woman complaint about a grape-size, painless mass behind the right ear for a month.
DIAGNOSES
Radiological examinations suggested that both lesions were cyst-solid mixed lesions with relatively smoothed margins, with or without significant enhancement while the lesion without enhancement had a hemorrhage. Then a diagnosis of benign tumor arising from the parotid gland was made. Final diagnosis of myopericytoma was confirmed by histopathological and immunohistochemical examinations after surgical resection.
INTERVENTIONS
Both patients underwent excision of the tumor and the superficial parotidectomy with facial nerve preservation.
OUTCOMES
Both patients recovered without any intraoperative or postoperative complication and had no signs of recurrence during a 17-month and 5-year follow-up.
LESSONS
Parotid gland myopericytoma is an exceedingly rare tumor which diagnosis can be challenging, and this is the first published report specifying the magnetic resonance features of the disease.
Topics: Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Myopericytoma; Parotid Neoplasms; Tomography, X-Ray Computed
PubMed: 33832162
DOI: 10.1097/MD.0000000000025471 -
International Journal of Clinical and... 2020Myopericytoma is an uncommon, slow-growing benign tumour of concentrically distributed perivascular myoid cells, that occurs generally in the skin and superficial soft...
Myopericytoma is an uncommon, slow-growing benign tumour of concentrically distributed perivascular myoid cells, that occurs generally in the skin and superficial soft tissues especially in distal extremities. In the visceral organs, it is particularly rare. We provide the first report of this rare entity in the stomach. A 45-year-male presented to an outside hospital because of pharyngalgia and cough 10 days prior. Endoscopic ultrasonography revealed a 0.92 cm × 0.92 cm hypoechoic lesion in the submucosa of sinuses ventriculi. For further diagnosis and treatment, the patient came to our hospital, and underwent endoscopic submucosal excavation (ESE), without adjuvant therapy. Postoperative pathology was myopericytoma. No recurrence was found in the follow-up of 27 months. In conclusion, myopericytoma is a comparatively newly described disease entity approved by the World Health Organization classification for tumours of soft tissue. The present report shows the first case of myopericytoma of the stomachto remind clinicians and pathologists that myopericytoma may be encountered at this location.
PubMed: 32782704
DOI: No ID Found