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BJR Case Reports Sep 2020Myopericytomas are exceedingly rare soft-tissue tumors with less than 10 cases including radiological depictions. We report three new cases of benign myopericytomas...
Myopericytomas are exceedingly rare soft-tissue tumors with less than 10 cases including radiological depictions. We report three new cases of benign myopericytomas located in the soft-tissues of the hand in adult patients. A pre-treatment MRI was available for all patients and systematically evidenced well-defined, lobulated tumors closely related to the superficial palmar vascular arch and/or digital vessels with a perivascular pushing growth pattern that correlated with pathological findings. Though rare, this small case series show that myopericytomas display recurrent imaging features that could support their radiological diagnosis.
PubMed: 33029364
DOI: 10.1259/bjrcr.20190074 -
Molecular and Clinical Oncology Dec 2020Myopericytoma is a rare type of benign tumor, which commonly affects all four limbs. The occurrence of myopericytoma in the liver is extremely rare. Myopericytoma with a...
Myopericytoma is a rare type of benign tumor, which commonly affects all four limbs. The occurrence of myopericytoma in the liver is extremely rare. Myopericytoma with a size of >1 cm in diameter in the liver has not been previously reported. Due to the limited number of cases, the preoperative diagnosis of liver myopericytoma based on laboratory and imaging examinations is difficult. In the present case report, a patient with multiple myopericytoma in the liver, with a maximum diameter of 4.5 cm was described, with accompanying computed tomography (CT) and positron emission tomography/CT (PET/CT) imaging profiles. The aim of the present report was to discuss the preoperative differential diagnosis between myopericytoma and other common liver neoplasms, such as intrahepatic cholangiocarcinoma or liver metastasis.
PubMed: 33014365
DOI: 10.3892/mco.2020.2136 -
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 -
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 -
Indian Journal of Dermatology 2020
PubMed: 32180615
DOI: 10.4103/ijd.IJD_310_18 -
International Journal of Surgery Case... 2020A pericytic tumor is a group of mesenchymal neoplasm found in superficial tissues and only rarely described in viscera. The family of pericytic tumors includes glomus...
INTRODUCTION
A pericytic tumor is a group of mesenchymal neoplasm found in superficial tissues and only rarely described in viscera. The family of pericytic tumors includes glomus tumors and variants, myopericytoma including myofibroma, and angioleiomyoma etc. The renal pericytic tumor is extremely rare, and only few comprehensive discussions about this entity have been done.
PRESENTATION OF CASE
A 58-year-old man was transferred to our institute with suspicions of renal cell carcinoma. The kidney dynamic computed tomography scan showed a 3 cm sized solid mass in the upper pole of the right kidney. Laparoscopic radical nephrectomy was performed due to the deep-seated mass. Pathological result confirmed that the kidney mass was renal pericytic tumor.
DISCUSSION
Although general biological behavior of published renal pericytic tumors is likely to be benign, the clinicopathologic experiences are very limited. Therefore, we should evaluate the malignant potential of the entity according to the parameters proposed for soft tissue tumors, including tumor location, tumor size, growth pattern, cellularity, cytological atypia, and mitotic figures with atypical forms. The current case shows several worrisome features, including an extremely rare tumor location, partially infiltrative growth, and a mildly increased proliferating index, which resulted in it being classified as an uncertain malignant potential.
CONCLUSION
We described the first case of renal pericytic tumor, addressing uncertain malignant potential, in a Korean male, which would be a distinct mesenchymal neoplasm differentiating from other groups of perivascular tumor families based on histological and immunohistochemical features.
PubMed: 31855704
DOI: 10.1016/j.ijscr.2019.11.009 -
Medicine and Pharmacy Reports Oct 2019Myopericytoma is a benign tumor that shows a pericytic line of differentiation. The lesion is generally located in the dermis and subcutaneous tissue and has a...
Myopericytoma is a benign tumor that shows a pericytic line of differentiation. The lesion is generally located in the dermis and subcutaneous tissue and has a predilection for distal extremities, but may be found in any part of the body. We present a case of 48-year old male who came with painful swelling in right middle finger for the past 2 years. Histopathology showed proliferation of spindle-shaped cells exhibiting a hemangio-pericytomatous pattern with various sized vessels lined by flattened endothelium and surrounded by a concentric arrangement of spindle-shaped cells. Tumor cells showed membranous positivity for smooth muscle actin but negative for desmin and CD34. Hence diagnosis of intravenous myopericytoma was established.
PubMed: 31750447
DOI: 10.15386/mpr-1377 -
The American Journal of Surgical... Dec 2019The entity "pericytoma with t(7;12)" was described as a rare, distinct perivascular myoid neoplasm provisionally classified within the family of myopericytic tumors that...
The entity "pericytoma with t(7;12)" was described as a rare, distinct perivascular myoid neoplasm provisionally classified within the family of myopericytic tumors that demonstrates t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion and biologically was felt to behave in an indolent fashion. However, a recent study showed that tumors with this and similar translocations may have variable morphology and immunohistochemical phenotype with inconsistent myopericytic characteristics and a propensity for metastasis, raising questions regarding the most appropriate classification of these neoplasms. Herein, we report 3 additional patients with tumors harboring t(7;12) and ACTB-GLI1 fusion. The tumors arose in adults and involved the proximal tibia and adjacent soft tissues, scapula and adjacent soft tissues, and ovary. All tumors were composed of round-to-ovoid cells with a richly vascularized stroma with many small, delicate, branching blood vessels, where the neoplastic cells were frequently arranged in a perivascular distribution. Both tumors involving bone showed histologic features of malignancy. By immunohistochemistry, all tested tumors were at least focally positive for smooth muscle actin (3/3) and CD99 (patchy) (2/2), with variable staining for muscle-specific actin (2/3), S100 protein (1/3), epithelial membrane antigen (2/3), and pan-keratin (1/3); all were negative for desmin and WT1 (0/3). The 2 patients with bone tumors developed metastases (27 and 84 mo after diagnosis). Whether these tumors are best classified as malignant myopericytoma variants or an emerging translocation-associated sarcoma of uncertain differentiation remains to be fully clarified; however, our study further documents the potential for these tumors to behave in an aggressive fashion, sometimes over a prolonged clinical course.
Topics: Actins; Adult; Biomarkers, Tumor; Bone Neoplasms; Cell Differentiation; Chromosomes, Human, Pair 12; Chromosomes, Human, Pair 7; Female; Gene Fusion; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Myopericytoma; Ovarian Neoplasms; Phenotype; Sarcoma; Translocation, Genetic; Treatment Outcome; Zinc Finger Protein GLI1
PubMed: 31567194
DOI: 10.1097/PAS.0000000000001360 -
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 -
Annals of Diagnostic Pathology Aug 2019Based on histological findings, calcifying fibrous tumor (CFT) may be a late (burned out) stage of inflammatory myofibroblastic tumor (IMT). This concept, however, has... (Comparative Study)
Comparative Study
Based on histological findings, calcifying fibrous tumor (CFT) may be a late (burned out) stage of inflammatory myofibroblastic tumor (IMT). This concept, however, has not been proven by molecular means. Five CFTs were analyzed for IMT-related rearrangements in ALK, ROS1 and RET using fluorescence in situ hybridization (FISH). Additionally, genome-wide methylation patterns were investigated and compared with IMT (n = 7), leiomyoma (n = 7), angioleiomyoma (n = 9), myopericytoma (n = 7) and reactive soft tissue lesions (n = 10) using unsupervised hierarchical cluster analysis and t distributed stochastic neighbor embedding. CFT patients, 4 females and 1 male, had a median age of 20 years ranging from 7 to 43 years. Two patients were younger than 18 years old. The tumors originated in the abdomen (n = 4) and axilla (n = 1). Histologically, all lesions were (multi) nodular and hypocellular consisting of bland looking (myo)fibroblasts embedded in a collagenous matrix with calcifications. FISH analysis brought up negative results for ALK, RET and ROS1 rearrangements. However, genome-wide methylation analysis revealed overlapping methylation patterns of CFT and IMT forming a distinct homogeneous methylation cluster with exception of one case clustering with myopericytoma/angioleiomyoma. In conclusion, DNA methylation profiling supports the concept that CFT and IMT represent both ends of a spectrum of one entity with CFT being the burn out stage of IMT.
Topics: Abdominal Neoplasms; Adolescent; Adult; Axilla; Calcinosis; Child; DNA Methylation; Epigenesis, Genetic; Female; Genome-Wide Association Study; Granuloma, Plasma Cell; Humans; Male; Neoplasms, Fibrous Tissue; Young Adult
PubMed: 31202195
DOI: 10.1016/j.anndiagpath.2019.05.013