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Urology Case Reports Mar 2023We present a unique case of a 6 cm, incidental, ureteral myopericytoma which was initially believed to be an ovarian tumor with mass effect, causing...
We present a unique case of a 6 cm, incidental, ureteral myopericytoma which was initially believed to be an ovarian tumor with mass effect, causing hydroureteronephrosis. A 75-year-old woman presented with a three-month history of postprandial cramps and heartburn. A right distal ureterectomy with en-bloc resection of the mass was performed. Histologically, a well-circumscribed, cellular proliferation of uniform, cytologically bland, spindle cells was identified that had a multilayered, concentric growth pattern around numerous blood vessels. Immunohistochemically, the spindle lesional cells stained strongly and diffusely with antibodies against smooth muscle actin and failed to stain for pancytokeratin and S100 protein.
PubMed: 36873045
DOI: 10.1016/j.eucr.2023.102362 -
The Australasian Journal of Dermatology May 2023Myopericytoma is a rare tumour which typically presents as a benign lesion that mimics features of other more common vascular tumours and malformations. We present a...
Myopericytoma is a rare tumour which typically presents as a benign lesion that mimics features of other more common vascular tumours and malformations. We present a case of a symptomatic diffuse myopericytomatosis of the left abdomen presenting as multiple subcutaneous vascular tumours detected on ultrasound and treated with ultrasound-guided sclerotherapy.
Topics: Humans; Vascular Neoplasms; Sclerotherapy; Ultrasonography; Vascular Malformations
PubMed: 36810977
DOI: 10.1111/ajd.14011 -
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... 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 -
World Journal of Surgical Oncology Jan 2023Hepatic myopericytoma (MPC) is an extremely rare pathological entity in the liver. Conversely, cystic hepatic lesions are a group of heterogeneous lesions encountered...
BACKGROUND
Hepatic myopericytoma (MPC) is an extremely rare pathological entity in the liver. Conversely, cystic hepatic lesions are a group of heterogeneous lesions encountered commonly in daily practice. Here, we report a unique case of the coexistence of primary hepatic MPC and multiple cystic hepatic lesions along with our perceptions on its diagnosis and treatment.
CASE PRESENTATION
A 56-year-old female patient was found to have a left liver mass during a routine physical examination. Computer tomography (CT) and magnetic resonance imaging (MRI) confirmed the existence of a left hepatic neoplasm along with multiple hepatic cysts but could not exclude the possible malignant nature of the neoplasm. Computer tomography (CT) also identified an enlarged mediastinal lymph node with a maximum diameter of 4.3 cm, which further underwent core needle biopsy under CT guidance. A histopathological examination was performed to rule out malignancy. Afterwards, the patient underwent left hemihepatectomy to resect a solid tumor of 5.5 cm × 5 cm × 4.7 cm with multiple cystic lesions which were histopathologically examined to establish the diagnosis of myopericytoma with hepatic cysts. Postoperatively, the patient recovered from the surgery quickly without significant adverse events and was not found to have a reoccurrence of the primary pathological entity.
CONCLUSIONS
This is the first reported case of a patient with the co-existence of primary hepatic myopericytoma and multiple cystic hepatic lesions undergoing surgical treatment with eventual recovery.
Topics: Female; Humans; Middle Aged; Myopericytoma; Liver Neoplasms; Cysts
PubMed: 36658645
DOI: 10.1186/s12957-023-02894-1 -
Annals of Dermatology Dec 2022
PubMed: 36478436
DOI: 10.5021/ad.20.326 -
Orbit (Amsterdam, Netherlands) Jun 2024A 5-year-old girl presented with a 6-month history of strabismus and painless left proptosis. Magnetic resonance imaging revealed a homogenously enhancing, anterior,...
A 5-year-old girl presented with a 6-month history of strabismus and painless left proptosis. Magnetic resonance imaging revealed a homogenously enhancing, anterior, superomedial, left orbital mass. Excisional biopsy established the diagnosis of orbital glomangiopericytoma. Glomangiopericytoma of soft tissue is a perivascular myoid neoplasm with hemangiocytoma-like vascular channels that has overlapping features between glomus tumor and myopericytoma. To the authors' knowledge, glomangiopericytoma of the orbit has not previously been reported.
Topics: Humans; Female; Orbital Neoplasms; Child, Preschool; Magnetic Resonance Imaging; Exophthalmos; Hemangiopericytoma; Glomus Tumor; Biopsy; Strabismus
PubMed: 36469586
DOI: 10.1080/01676830.2022.2151629 -
Pediatric and Developmental Pathology :... 2023Perivascular tumors, which include myopericytoma and myofibroma, are rare benign soft tissue neoplasms composed of perivascular smooth muscle cells. Most demonstrate...
BACKGROUND
Perivascular tumors, which include myopericytoma and myofibroma, are rare benign soft tissue neoplasms composed of perivascular smooth muscle cells. Most demonstrate characteristic morphology and are readily diagnosed. However, a recently identified hypercellular subset shows atypical histologic features and harbor unique SRF gene fusions. These cellular perivascular tumors can mimic other more common sarcomas with myogenic differentiation.
METHODS
Clinical, radiological, morphological, immunohistochemical, and molecular findings were reviewed.
RESULTS
A slow-growing, fluctuant mass was noted within the philtrum at 16 months. Ultrasonography revealed a well-circumscribed cystic hypoechoic lesion. A small (1.0 cm), tan, well-circumscribed soft-tissue mass was excised after continued growth. Histologically, the encapsulated tumor was hypercellular and composed of spindle cells with predominantly-storiform architecture, focal perivascular condensation, dilated branching thin-walled vessels, increased mitoses, and a smooth muscle immunophenotype. An SRF::NCOA2 fusion was identified.
CONCLUSION
We report the first case of an SRF-rearranged cellular myopericytoma in the perioral region in a young child. This case expands the differential diagnosis of perioral soft tissue tumors with myogenic differentiation. We highlight key clinical, pathological, and molecular features. As we illustrate, these rare tumors pose a considerable diagnostic challenge, and risk misdiagnosis as sarcoma, most notably spindle cell rhabdomyosarcoma.
Topics: Humans; Child; Adult; Myopericytoma; Lip; Soft Tissue Neoplasms; Sarcoma; Myofibromatosis; Biomarkers, Tumor; Nuclear Receptor Coactivator 2
PubMed: 36457254
DOI: 10.1177/10935266221138896 -
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 -
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