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Journal of Orthopaedics Mar 2015Myopericytoma is a perivascular neoplasm commonly found in the skin and soft tissue of extremities. These lesions often exhibit concentric vascular proliferation of...
INTRODUCTION
Myopericytoma is a perivascular neoplasm commonly found in the skin and soft tissue of extremities. These lesions often exhibit concentric vascular proliferation of spindle shaped myoid cells.
METHODS/RESULTS
We present a case of a 76-year old male who was diagnosed with myopericytoma and subsequent cytogenetic analysis found a highly abnormal karyotype. This karyotype includes cytogenetic mutations that have not been described in previous case studies of myopericytoma.
CONCLUSIONS
Some of these aberrations occur on genes that are involved in hedgehog signaling as well as pericyte proliferation, indicating a potential pericyte origin for myopericytoma tumors.
PubMed: 25829759
DOI: 10.1016/j.jor.2015.01.015 -
The American Journal of Surgical... Nov 2020Glomus tumors (GTs), together with myofibroma (MF), myopericytoma (MP), and angioleiomyoma (AL) are classified as members of the perivascular myoid family of tumors. The...
Glomus tumors (GTs), together with myofibroma (MF), myopericytoma (MP), and angioleiomyoma (AL) are classified as members of the perivascular myoid family of tumors. The reported genetic abnormalities across these neoplasms is dissimilar, arguing against a pathogenetically unified family; half of the GT showing NOTCH-gene fusions and a smaller subset BRAF V600E mutations, while PDGFRB mutations are noted in a subset of MF and MP. This study aimed to investigate the prevalence and specificity of NOTCH-gene fusions in a large group of GT and correlate with clinical features. BRAF-VE1 and PDGFRB immunoexpression was also investigated in this cohort. A total of 93 GT and 43 other pericytic lesions (11 MP, 13 MF, and 19 AL) were selected. All cases were tested by fluorescence in situ hybridization for NOTCH1-4 and MIR143 gene abnormalities and 6 cases were investigated by targeted RNA-sequencing. Fluorescence in situ hybridization revealed NOTCH-gene rearrangements in 50 (54%) GT, 2 MP (18%), and 2 AL (11%). NOTCH-rearrangements were present in 34 (68%) benign and 16 (32%) malignant GT. Fusion-positive benign GT were overwhelmingly seen in males with a predilection for extremities, while the malignant GT occurred mostly in viscera. Among the fusion-negative GT, 88% were benign, 9% uncertain malignant potential, and 2% malignant. Half of the fusion-negative GTs occurred in the finger/subungual region. In summary, rearrangements of NOTCH genes are seen in over half of GT, with NOTCH2-MIR143 being the most common fusion (73%), while only a small subset of AL and MP share these abnormalities. The common subungual GT subset lack NOTCH-gene fusions suggesting an alternative pathogenesis. BRAF-VE1 was negative in all 37 cases studied, while strong PDGFRB staining was seen in 14 (21%) cases. Additional studies are needed to investigate the genetic alterations in the fusion-negative cases.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Angiomyoma; Biomarkers, Tumor; Female; Glomus Tumor; Humans; Male; Middle Aged; Myofibroma; Myopericytoma; Oncogene Fusion; Receptors, Notch; Young Adult
PubMed: 32604167
DOI: 10.1097/PAS.0000000000001531 -
Journal of Hand and Microsurgery Apr 2017A myopericytoma (MP) is an exceedingly rare perivascular tumor of unknown etiology. Given their potential for mimicry and malignancy, MP tumors pose a unique challenge...
A myopericytoma (MP) is an exceedingly rare perivascular tumor of unknown etiology. Given their potential for mimicry and malignancy, MP tumors pose a unique challenge for surgeons and may be overlooked on differential diagnosis. We present a case report of an otherwise healthy 33-year-old right-hand dominant male who presented to our outpatient clinic with a 2-month history of painless swelling and erythema of the pulp of his left index finger. Subsequent plain film X-ray showed near-complete bony destruction of his distal phalanx. Pathological evaluation of an incisional biopsy showed a benign variant of MP. The lesion was treated by excision with tumor shelling, and there was no evidence of recurrence 81 days postoperatively. A systematic literature review of the management and outcome of all known cases of hand and wrist MP is presented.
PubMed: 28442859
DOI: 10.1055/s-0037-1601397 -
Human Pathology Jun 2017The pericytic (perivascular myoid cell) family of tumors is a distinctive group of mesenchymal neoplasms encountered in superficial sites and only rarely seen in...
The pericytic (perivascular myoid cell) family of tumors is a distinctive group of mesenchymal neoplasms encountered in superficial sites and only rarely seen in viscera. The pericytic family subtends a spectrum of lesions, namely, glomus tumors and variants; myopericytoma, including myofibroma; and angioleiomyoma. In light of the contemporary classification of pericytic lesions, we identified and reviewed 17 cases of renal pericytic tumors from the files of 6 referral centers. These tumors presented over an age range of 17 to 76 years (mean 46.7, median 53), with essentially equal male-female ratio. History of hypertension (available in 11 patients) was noted in 7 (64%), which persisted even after surgical resection, including in 2 younger patients (17 and 30 years). The tumors (1.7-11.0 cm) included glomus tumors (n=11); glomangiomyoma (n=1); glomus tumor with atypical features (n=1); and angioleiomyoma (n=1), as well as tumors showing features overlapping pericytic tumor subtypes (n=3). The histomorphology observed in these renal examples closely resembled that of their soft tissue counterparts, a subset with symplastic changes and atypical features, and pericytic immunophenotype. Despite large size and deep site, no progression was identified during a median of 7 months follow-up (1-62 months). In context of prior reported experience, our series identifies a wide morphologic spectrum, including lesions presenting composite morphologies. Taken with the experience of others, our series further corroborates that malignant behavior is rare, and that criteria associated with aggression among soft tissue pericytic tumors may not be predictive for those in the kidney.
Topics: Adolescent; Adult; Aged; Angiomyoma; Biomarkers, Tumor; Biopsy; Blood Pressure; Female; Glomus Tumor; Humans; Hypertension; Immunohistochemistry; Kidney Neoplasms; Male; Middle Aged; Nephrectomy; Pericytes; Time Factors; Treatment Outcome; Tumor Burden; United States; Young Adult
PubMed: 28438616
DOI: 10.1016/j.humpath.2017.04.005 -
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 -
APSP Journal of Case Reports 2016Myopericytoma is a soft tissue tumor with perivascular myoid differentiation. It accounts for 1% of the vascular tumors and involves mostly cutaneous or subcutaneous...
Myopericytoma is a soft tissue tumor with perivascular myoid differentiation. It accounts for 1% of the vascular tumors and involves mostly cutaneous or subcutaneous tissue of the limbs in adults. Malignant myopericytoma is exceedingly rare. A 15-year old girl presented with slowly progressive mass over left shoulder region. Histopathology and immunohistochemistry after complete excision revealed it as malignant myopericytoma.
PubMed: 27398322
DOI: 10.21699/ajcr.v7i3.421 -
The American Journal of Dermatopathology Apr 2016Malignant myopericytoma is a rare entity with only 8 cases reported in the English literature. The authors report a case of a 65-year-old man with a slow-growing 8-cm... (Review)
Review
Malignant myopericytoma is a rare entity with only 8 cases reported in the English literature. The authors report a case of a 65-year-old man with a slow-growing 8-cm nodule on the right arm. Marginal excision was performed, and a diagnosis of malignant myopericytoma was made based on histopathologic and immunohistochemical aspects. These tumors are characterized by a proliferation of round-to-spindle cells of myoid appearance in a concentric perivascular arrangement, along with malignant cytological findings. By immunochemistry, the cells were positive for smooth muscle actin and negative for desmin, cytokeratin AE1/AE3, S100 protein, Melan-A, p63, CD99, bcl-2, CD10, and STAT-6. No membranous expression of type IV collagen was observed. These tumors are associated with aggressive biological behavior and most develops metastases.
Topics: Aged; Arm; Biomarkers, Tumor; Hemangiopericytoma; Humans; Immunohistochemistry; Male; Soft Tissue Neoplasms
PubMed: 26863056
DOI: 10.1097/DAD.0000000000000463 -
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 -
Asian Journal of Neurosurgery Mar 2022A 50-year-old female presented with a history of seizures, headache, nausea, and vomiting. On imaging, parafalcine meningioma with mass effect features was rendered. She...
A 50-year-old female presented with a history of seizures, headache, nausea, and vomiting. On imaging, parafalcine meningioma with mass effect features was rendered. She underwent right frontal tumor excision and craniotomy. Pathological examination showed a tumor composed of syncytial aggregates of round to plump fusiform cells forming whorls around prominent branching congested vessels. The tumorous cells expressed α-smooth actin and heavy-chain caldesmon and were negative for epithelial membrane antigen, protein S100, HMB45, CD34, calponin, and desmin, thus providing the final diagnosis of intracranial myopericytoma. The rarity of this benign tumor at an extremely rare location prompted this study. As preoperative radiological investigations are nonspecific in such cases, a detailed and comprehensive pathological examination is mandatory to come to a definitive diagnosis.
PubMed: 35873834
DOI: 10.1055/s-0042-1748794 -
The American Journal of Surgical... Aug 2017Myopericytoma is a benign tumor of concentrically distributed perivascular myoid cells. Its molecular basis and relationship with myofibroma/myofibromatosis and other...
Myopericytoma is a benign tumor of concentrically distributed perivascular myoid cells. Its molecular basis and relationship with myofibroma/myofibromatosis and other pericytic tumors are not fully understood. In our consultation/surgical files of over 1000 myopericytic lesions, we identified 11 cases with diffuse dermal/subcutaneous involvement by microscopic myopericytomatous nodules, a phenomenon we have termed myopericytomatosis. Myopericytomatosis affected mostly adults (female:male=8:3; median age, 37 y; range, 9 to 63 y) in the lower extremities (foot/ankle, 5; calf, 3; knee, 1; thigh, 1; neck, 1) over months to 25 years, ranging from 1.5 to 11.0 (median, 6.0) cm in size. Histologically, myopericytomatosis displayed diffuse infiltration by innumerable discrete myopericytoma/myofibroma-like nodules of bland spindled-to-ovoid cells (smooth muscle actin positive), in a mainly perivascular distribution. No mitoses, atypia, or necrosis was noted. All patients were treated by surgical excision (1 patient also received adjuvant radiation), with margins focally positive in 5 of 6 known cases. Of the 6 cases with follow-up of 0.2 to 13.7 (median, 3.4) years, 1 recurred locally twice, while 5 cases showed no recurrence. Targeted next-generation DNA sequencing identified PDGFRB alterations in all cases of myopericytomatosis and conventional myopericytoma tested (5 cases each), including mutations in 4 cases of myopericytomatosis (N666K in 3; Y562-R565 deletion in 1 case) and 3 myopericytomas (Y562C, K653E, and splice acceptor deletion in 1 case each), as well as low-level PDGFRB amplification in 2 cases of myopericytomatosis and 4 myopericytomas. No BRAF, NOTCH, or GLI1 alterations were detected. In summary, myopericytomatosis is a rare, strikingly diffuse, but apparently benign variant of myopericytoma that typically involves superficial soft tissue in adults with innumerable discrete microscopic myopericytomatous nodules. The strongly activating PDGFRB mutation N666K is noted in myopericytomatosis, but not in conventional myopericytoma, suggesting that PDGFRB mutation status may account for their pathogenetic differences. As PDGFRB alterations are present in myopericytoma/myopericytomatosis and infantile myofibromatosis/myofibroma, these entities indeed lie within a histogenetic continuum. Identification of PDGFRB alterations suggests tyrosine kinase inhibition as a potential therapeutic strategy in myopericytic neoplasms if needed.
Topics: Adolescent; Adult; Child; Female; Humans; Male; Middle Aged; Myofibroma; Receptor, Platelet-Derived Growth Factor beta; Soft Tissue Neoplasms; Young Adult
PubMed: 28505006
DOI: 10.1097/PAS.0000000000000862