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BMC Women's Health Apr 2022Malignant epithelioid neoplasm with ACTB-GLI1 fusion are considered different from the more common pericytic lesions, such myopericytoma, because they have a spectrum of...
BACKGROUND
Malignant epithelioid neoplasm with ACTB-GLI1 fusion are considered different from the more common pericytic lesions, such myopericytoma, because they have a spectrum of different genetic abnormalities. They appear to pursue a benign clinical course in young adults, although in sporadic cases lymph node metastasis were described. The categorization of this new type of tumor may also lead to new therapeutic strategies, because they might be sensitive to SHH pathway inhibitors.
CASE PRESENTATION
The case involves a 72-years-old multiparous woman who accessed our department after an incidental finding of a right adnexal mass of 43 mm with contrast-enhancement on a control computed tomography scan made for suspected diverticulitis. Our intervention was a detailed ultrasound description of the suspected neoplasm; a diagnostic laparoscopy and the contextual laparotomic removal of abdominal mass; its histological and immunohistochemical analysis. Our main outcome measure is the definition and future recognition of new pathologic entity called malignant epithelioid neoplasm with ACTB-GLI1 fusion.
CONCLUSIONS
We described for the first time the ultrasound characteristic of this type of lesion using standardized terminology and we believe that it may be the first step to improve the acknowledgement of this novel pathologic entity defined as malignant epithelioid neoplasm with GLI-1 fusions.
Topics: Aged; Female; Gene Fusion; Humans; Ileal Neoplasms; Ileum; Lymphatic Metastasis; Zinc Finger Protein GLI1
PubMed: 35387638
DOI: 10.1186/s12905-022-01679-0 -
Journal of Cutaneous Pathology Aug 2022Epithelioid angioleiomyoma (EALM) is rare in the skin and subcutaneous tissues. To the best of our knowledge, only two previous cases of this tumor have been reported....
Epithelioid angioleiomyoma (EALM) is rare in the skin and subcutaneous tissues. To the best of our knowledge, only two previous cases of this tumor have been reported. We document here the case of an 83-year-old woman who underwent complete removal of a squamous cell carcinoma of the retromolar trigone and lymph node dissection of the neck. An incidental EALM was observed in the adipose tissue. The tumor formed a unilocular, poorly demarcated neoplasm measuring 0.3 cm, and showed cavernous angiomatous spaces with villiform growth of large epithelioid cells arranged in clusters. Besides the epithelioid cells of muscular origin, bundles of well-differentiated smooth muscle cells were observed. Epithelioid cells accounted for 70% of the total. The neoplasm originated in the wall of a medium-sized vein. Epithelioid and spindle cells were positive for alpha-smooth muscle actin, calponin, h-caldesmon, and muscle-specific actin. The endothelial cells lining the vascular spaces showed intense and diffuse positivity for CD31 and ERG. The main differential diagnosis includes metastatic carcinoma, melanoma, perivascular epithelioid cell neoplasm, myopericytoma, glomangiomyoma, epithelioid glomus tumor, and epithelioid leiomyosarcoma. This report expands the morphological spectrum of the EALM. Awareness of this uncommon morphologic variant of angioleiomyoma and the use of adequate techniques can avoid misdiagnosis.
Topics: Actins; Aged, 80 and over; Angiomyoma; Biomarkers, Tumor; Endothelial Cells; Female; Glomus Tumor; Humans; Soft Tissue Neoplasms
PubMed: 35357042
DOI: 10.1111/cup.14233 -
Cureus Jan 2022Myopericytoma (MPC) is an uncommon benign neoplasm of the skin and soft tissues belonging to a spectrum of tumors that are histologically recognized by their distinctive...
Myopericytoma (MPC) is an uncommon benign neoplasm of the skin and soft tissues belonging to a spectrum of tumors that are histologically recognized by their distinctive perivascular myoid cell differentiation. These distinct tumors are more prevalent among middle-aged males, and they arise more frequently in the subcutaneous tissue of the four extremities. In this paper, myopericytoma is reported in a 59-year-old Saudi male, presented with a painless small cyst involving the left ankle suspected clinically to be a ganglion cyst. Following surgical excision of the cyst, the diagnosis of myopericytoma was made based on the histopathological pattern of the disease. This paper focuses on the clinical and histopathological findings of myopericytoma and emphasizes the importance of immunohistochemistry as well as molecular testing in reaching the final diagnosis.
PubMed: 35186568
DOI: 10.7759/cureus.21307 -
Journal of Surgical Case Reports Feb 2022Myopericytoma (MPC) is a rare, benign tumour often presenting as a cutaneous growth commonly in the lower extremities. It is distinguished by its concentric layering of...
Myopericytoma (MPC) is a rare, benign tumour often presenting as a cutaneous growth commonly in the lower extremities. It is distinguished by its concentric layering of spindle shaped myoid appearing cells perivascularly. These cells diagnostically stain positive to alpha smooth-muscle actin and rarely positive to desmin stain. This case study reviews the presentation of a 56-year-old male with a slow-growing, pre-tibial lesion developing over a 7-8 year period. This lesion was asymptomatic and demonstrated vascular involvement on ultrasound scan. This lesion measured 19 × 15 × 9 mm histologically and contained bland spindle cells surrounding vessels that interestingly stained positive to both alpha smooth-muscle actin and desmin. The histological findings in correlation to clinical presentation and imaging led to a diagnosis of MPC.
PubMed: 35145630
DOI: 10.1093/jscr/rjac021 -
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 -
Asian Journal of Neurosurgery 2021A 50-year-old female with a history of seizures, headache, nausea, and vomiting. On imaging, parafalcine meningioma with mass effect features was rendered. She underwent...
A 50-year-old female 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 alpha-smooth muscle 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 location, prompted this study. As preoperative radiological investigations are nonspecific in such cases, hence a detailed and comprehensive pathological examination is mandatory to come to a definitive diagnosis.
PubMed: 35071100
DOI: 10.4103/ajns.ajns_255_21 -
Journal of Radiosurgery and SBRT 2022
PubMed: 36861000
DOI: No ID Found -
International Journal of Surgical... Aug 2022Myopericytomas are uncommon tumors defined by their round to spindle shaped cells often arranged in a concentric pattern of perivascular growth. They are typically... (Review)
Review
Myopericytomas are uncommon tumors defined by their round to spindle shaped cells often arranged in a concentric pattern of perivascular growth. They are typically well-circumscribed, nodular, slow-growing lesions that occur in the soft tissue of the extremities. Here, we present a 30-year-old female with a 2.4 cm myopericytoma occurring in the deep lobe of the parotid gland. The diagnosis was made with detailed histopathologic and immunohistochemical findings and positive identification of the specific mutation for p.Asp666Lys by next generation sequencing (NGS). This is the first case report of a parotid myopericytoma with a genetic testing that shows a particular mutation that has been linked to myopericytomatosis.
Topics: Adult; Diagnosis, Differential; Female; Hemangiopericytoma; Humans; Myopericytoma; Parotid Gland; Receptor, Platelet-Derived Growth Factor beta
PubMed: 34970937
DOI: 10.1177/10668969211070167 -
Cureus Oct 2021Myopericytoma is a rare, benign growth characterized by painless lesions with a predilection for the extremities, although they may be found in or on any part of the...
Myopericytoma is a rare, benign growth characterized by painless lesions with a predilection for the extremities, although they may be found in or on any part of the body. These tumors typically present as a rounded or dome-like non-exophytic lesion and exhibit a benign disease course. Treatment is generally reserved for cosmetic or functional purposes. We present a case of an atypical presentation of an exophytic digital myopericytoma in a 45-year-old female treated with local punch excision.
PubMed: 34868775
DOI: 10.7759/cureus.19137