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Fetal and Pediatric Pathology Apr 2021Myofibromatosis is a distinctive mesenchymal disorder occurring predominantly in childhood, which on microscopy shows peripheral light areas of spindle cells and central...
INTRODUCTION
Myofibromatosis is a distinctive mesenchymal disorder occurring predominantly in childhood, which on microscopy shows peripheral light areas of spindle cells and central cellular areas of primitive oval to spindle cells arranged around hemagiopercytomatous vessels. PDFGRB mutations in the familial and multifocal sporadic forms and fusions in the cellular variants have been identified. The index case is being presented to discuss the clinico-pathological features, differential diagnosis, and management of the lesion.
CASE PRESENTATION
An 11-year-old male presented with an infraorbital mass of 3 months duration. The mass was excised and microscopy revealed the morphological features of myofibroma with tram-track SMA immunopositivity. Nodular fasciitis and fibromatosis were the differentials considered.
CONCLUSION
The gene fusion may represent a subset that in the future may be used to differentiate these myofibromas/myopericytomas from the fusion myopericytomas, and may be used to perhaps separate out familial myofibromas from other myofibromas.
Topics: Child; Diagnosis, Differential; Humans; Male; Mutation; Myofibroma; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta
PubMed: 31738635
DOI: 10.1080/15513815.2019.1686785 -
The American Journal of Surgical... Apr 2023Glioma-associated oncogene 1 ( GLI1 ) alterations have been described in pericytoma with t(7;12), gastroblastoma, plexiform fibromyxoma, and an emerging class of GLI1...
Glioma-associated oncogene 1 ( GLI1 ) alterations have been described in pericytoma with t(7;12), gastroblastoma, plexiform fibromyxoma, and an emerging class of GLI1 -rearranged or amplified mesenchymal neoplasms including "nested glomoid neoplasm". The immunophenotype of these tumor types is nonspecific, making some cases difficult to diagnose without sequencing. The utility of GLI1 immunohistochemistry (IHC) in distinguishing nested glomoid neoplasms and pericytomas with t(7;12) from morphologic mimics is unknown. To investigate the diagnostic value of GLI1 IHC, we determined its sensitivity and specificity in a "test cohort" of 23 mesenchymal neoplasms characterized by GLI1 alterations, including 12 nested glomoid neoplasms (7 GLI1 -rearranged, 4 GLI1 amplified, and 1 unknown GLI1 status), 9 pericytomas with t(7;12), 1 gastroblastoma, and 1 malignant epithelioid neoplasm with PTCH1 :: GLI1 fusion. GLI1 IHC was 91.3% sensitive in this cohort; all tumors except 2 pericytomas with t(7;12) expressed GLI1. GLI1 was also expressed in 1 of 8 (12%) plexiform fibromyxomas. Nineteen of 22 GLI1-positive tumors showed nuclear and cytoplasmic staining, while 3 showed nuclear staining only. GLI1 IHC was 98.0% specific; among morphologic mimics [40 well-differentiated neuroendocrine tumors, 10 atypical lung carcinoids, 20 paragangliomas, 20 glomus tumors, 20 solitary fibrous tumors, 10 Ewing sarcomas, 10 alveolar rhabdomyosarcomas (ARMS), 10 BCOR -altered sarcomas, 10 myoepitheliomas, 9 myopericytomas, 9 epithelioid schwannomas, 9 ossifying fibromyxoid tumors, 10 biphasic synovial sarcomas, 10 PEComas, 31 gastrointestinal stromal tumors, 10 inflammatory fibroid polyps, 11 pseudoendocrine sarcomas], 5 of 249 tumors expressed GLI1 (2 well-differentiated neuroendocrine tumors, 1 ARMS, 1 Ewing sarcoma, 1 BCOR -altered sarcoma). GLI1 IHC was also performed on a separate cohort of 13 molecularly characterized mesenchymal neoplasms in which GLI1 copy number gain was identified as a putatively secondary event by DNA sequencing (5 dedifferentiated liposarcoma [DDLPS], 2 adenosarcomas, 2 unclassified uterine sarcomas, 1 leiomyosarcoma, 1 ARMS, 1 intimal sarcoma, 1 osteosarcoma); 2 DDLPS, 1 ARMS, and 1 unclassified uterine sarcoma expressed GLI1. Lastly, because pleomorphic sarcomas sometimes show GLI1 amplification or copy number gain, GLI1 IHC was performed on a separate "pleomorphic sarcoma" cohort: GLI1 was expressed in 1 of 27 DDLPS, 1 of 9 leiomyosarcomas, and 2 of 10 pleomorphic liposarcomas, and it was negative in 23 well-differentiated liposarcomas and 9 unclassified pleomorphic sarcomas. Overall, GLI1 IHC was 91.3% sensitive and 98.0% specific for mesenchymal tumor types with driver GLI1 alterations among morphologic mimics. GLI1 expression was less frequent in other tumor types with GLI1 copy number gain. Given its specificity, in the appropriate morphologic context, GLI1 IHC may be a useful diagnostic adjunct for mesenchymal neoplasms with GLI1 alterations.
Topics: Humans; Immunohistochemistry; Zinc Finger Protein GLI1; Sarcoma, Ewing; Sarcoma; Liposarcoma; Soft Tissue Neoplasms; Neuroendocrine Tumors; Biomarkers, Tumor
PubMed: 36693363
DOI: 10.1097/PAS.0000000000002018 -
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 -
Seminars in Diagnostic Pathology Mar 2015Mesenchymal tumors of the kidney, although infrequently encountered, constitute a wide spectrum of lesions. The relative rarity of these tumors means that in some... (Review)
Review
Mesenchymal tumors of the kidney, although infrequently encountered, constitute a wide spectrum of lesions. The relative rarity of these tumors means that in some instances criteria to differentiate between benign and malignancy are currently incompletely defined. More recently a variety of novel stromal tumors have been characterized, with hemangioblastoma and myopericytoma being notable examples. The identification of a subset of spindle cell tumors as synovial sarcoma, on the basis of the presence of a characteristic genetic translocation, has facilitated the correct classification of a number of tumors previously labeled as fibrosarcoma, malignant fibrous histiocytoma, or more recently cystic embryonal sarcoma. In this review, we have detailed the spectrum of both benign and malignant stromal tumors of the adult kidney, described the gross and microscopic features, with an emphasis on immunoexpression and the differential diagnosis of each tumor type.
Topics: Adult; Humans; Kidney Neoplasms; Mesoderm
PubMed: 25773128
DOI: 10.1053/j.semdp.2015.02.007 -
Jornal Vascular Brasileiro 2017Angioleiomyoma is a benign neoplasm that was considered a tumor of smooth-muscle origin until the most recent (2013) WHO classification of soft tissue tumors, in which...
Angioleiomyoma is a benign neoplasm that was considered a tumor of smooth-muscle origin until the most recent (2013) WHO classification of soft tissue tumors, in which it was reclassified as a tumor of perivascular origin. Angioleiomyomas rarely occur in the oral cavity. These lesions are treated surgically with good prognosis. This article presents a review of reports of oral angioleiomyoma in the literature from the last 5 years and describes the case of a 44-year-old man who presented with an asymptomatic nodule in the upper lip that had developed over a 6-month period. Diagnostic hypotheses of pleomorphic adenoma or canalicular adenoma were raised. Biopsy of the lesion, histopathological and immunohistochemical analysis (S100, CD34, H-caldesmon, and desmin) confirmed a diagnosis of angioleiomyoma. It is noteworthy that immunohistochemistry is an important auxiliary method for differential diagnosis of angioleiomyoma from other tumors, particularly myopericytoma.
PubMed: 29930628
DOI: 10.1590/1677-5449.000417 -
Case of cutaneous myopericytoma in a child and a mini-review of cases with children and adolescents.International Journal of Dermatology May 2023
Review
Topics: Humans; Child; Adolescent; Myopericytoma; Skin; Administration, Cutaneous
PubMed: 36416608
DOI: 10.1111/ijd.16523 -
Cureus Aug 2022Myopericytoma is a rare tumor that arises from perivascular myoid cells. Intravascular myopericytoma is an exceptionally rare subtype with a small number of cases...
Myopericytoma is a rare tumor that arises from perivascular myoid cells. Intravascular myopericytoma is an exceptionally rare subtype with a small number of cases reported. Here, we describe the case of a 31-year-old woman who presented with a lump on the dorsum of the right foot for nine months. Imaging indicated that the lesion is in close proximity to the dorsalis pedis vessels. Following surgical excision, the histological analysis revealed a benign neoplasm arising within a vein wall with features of vascular and pericytic differentiation. When using immunohistochemistry, the blood vessels were highlighted by the cluster of differentiation (CD) 31 and smooth muscle actin (SMA) with negative staining for pancytokeratins. These features led to the diagnosis of intravascular myopericytoma.
PubMed: 36185870
DOI: 10.7759/cureus.28581 -
Actas Dermo-sifiliograficas Jan 2021
Topics: Humans; Myopericytoma
PubMed: 33053369
DOI: 10.1016/j.ad.2019.02.032 -
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 -
Medical Ultrasonography May 2022
Topics: Humans; Myopericytoma
PubMed: 35617613
DOI: 10.11152/mu-3631