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International Journal of Surgery Case... Feb 2024Myopericytomas are tumors originating from perivascular myoid cells and exhibiting a wide range of histologic growth patterns. They rarely occur in bones, and no case of...
INTRODUCTION AND IMPORTANCE
Myopericytomas are tumors originating from perivascular myoid cells and exhibiting a wide range of histologic growth patterns. They rarely occur in bones, and no case of myopericytoma in the patella has been reported so far.
CASE PRESENTATION
A 74-year-old male presented with a chief complaint of pain in the left knee. Magnetic resonance imaging revealed bone tumor and osteolytic lesions of the patella. The patient underwent bone tumor curettage and filling of the cavity with artificial bone. However, as the tumor reoccurred, a patellectomy was performed. The patient regained premorbid functional status after surgery. Additionally, there was no radiological evidence of recurrence of the lesion 3 years after patellectomy.
CLINICAL DISCUSSION
Myopericytoma of the patella is very rare. However, it should be considered for the differential diagnosis of lytic lesions of the bone. Although surgery is curative, patellectomy may be necessary for recurrent cases.
CONCLUSION
In conclusion, we report the first case of patellar myopericytoma. Although patellar myopericytoma might be rare, it should be considered for the differential diagnosis of lytic lesions of the bone. Surgery is curative; however, patellectomy may be necessary in recurrent cases.
PubMed: 38232417
DOI: 10.1016/j.ijscr.2024.109263 -
Medicine Dec 2023Intravascular myopericytomas are a rare type of myopericytomas. In most previously reported cases, these were benign, occurred on the legs or neck, and had low... (Review)
Review
INTRODUCTION
Intravascular myopericytomas are a rare type of myopericytomas. In most previously reported cases, these were benign, occurred on the legs or neck, and had low recurrence rates. We have described a unique case of an intravascular myopericytoma that caused spontaneous deep vein thrombosis.
MAIN SYMPTOMS, IMPORTANT CLINICAL FINDINGS, AND MAIN DIAGNOSES
A 37-year-old man presented with sudden-onset pain and swelling in the upper arm; physical examination revealed a 10 cm, palpable, firm, and mobile lesion in the upper arm. A biopsy revealed intravascular myopericytoma; immunohistological examination revealed a lesion in the lumen of the basilic vein. The tumor comprised abundant myxoid stroma with spindle cells proliferating in a concentric perivascular manner around the blood vessel. The tumor cells stained positive for CD34 and smooth muscle actin.
THERAPEUTIC INTERVENTIONS AND OUTCOMES
The patient underwent total excision of the mass under local anesthesia; no recurrence was observed thereafter. A literature review was performed using PubMed and Google Scholar; the key terms were "intravascular myopericytoma" and "IVMP." Nineteen cases of intravascular myopericytomas across 14 articles published between January 2002 and January 2022 were identified. These involved 11 men and 7 women (sex was unknown in 1 case); the ages were 22 to 80 years (mean: 59.8 ± 14 years). In most cases, the tumor was slow-growing, and the etiology was previous surgical history or trauma. No pain was reported by patients with tumors on the face or feet, and no recurrence was observed after surgery in any of the reported cases. Immunohistochemical staining for smooth muscle actin, h-caldesmon, calponin, and CD34 was performed for differential diagnosis. Contrary to the slow-growing nature reported in the literature, the nature related to growing in the present case was unclear that lesion was discovered because of sudden pain caused by thrombosis. However, the diagnostic method and recurrence rate in our case were similar to those in the previously reported cases.
CONCLUSION
Our case shows that although intravascular myopericytomas are rare, they can cause spontaneous thrombosis. They have low recurrence rates after complete resection. Spontaneous deep vein thrombosis that occurs in rare locations must be treated after determining the causes.
Topics: Adult; Female; Humans; Male; Actins; Arm; Myopericytoma; Pain; Thrombosis; Venous Thrombosis; Young Adult; Middle Aged; Aged; Aged, 80 and over
PubMed: 38065911
DOI: 10.1097/MD.0000000000036566 -
Annals of Dermatology Nov 2023
PubMed: 38061745
DOI: 10.5021/ad.21.188 -
Annals of Dermatology Nov 2023
PubMed: 38061739
DOI: 10.5021/ad.21.075 -
The American Journal of Surgical... Feb 2024Storiform collagenoma is a rare mesenchymal skin tumor that is composed of thickened collagen bundles arranged in a characteristic storiform pattern with a relatively...
Storiform collagenoma is a rare mesenchymal skin tumor that is composed of thickened collagen bundles arranged in a characteristic storiform pattern with a relatively hypocellular CD34-positive spindle cell component. Storiform collagenoma is most often sporadic, but multiple lesions can occur in Cowden syndrome, which is characterized by germline alterations in PTEN (phosphatase and tensin homolog) on chromosome 10. Here, we investigated the molecular pathogenesis of storiform collagenoma using a targeted next-generation DNA sequencing platform, including 5 sporadic cases and one case associated with Cowden syndrome. Recurrent PTEN alterations were identified in all cases, with biallelic PTEN inactivation observed in the case associated with Cowden syndrome and one sporadic case. Unexpectedly, we also identified recurrent activating mutations in the platelet-derived growth factor receptor beta ( PDGFRB ) gene. This included a missense substitution in the D5 Ig-like domain of PDGFRB in the Cowden syndrome-associated case. In addition, we report missense alterations in the juxtamembrane domain of PDGFRB in 4 of 5 (80%) sporadic cases, including mutations that have been previously described in sporadic myofibroma and myopericytoma. Therefore, we confirm the neoplastic nature of storiform collagenoma, we expand the spectrum of reported PDGFRB alterations in mesenchymal tumors and we suggest a possible collaborative role for PTEN and PDGFRB in the pathogenesis of storiform collagenoma.
Topics: Humans; Hamartoma Syndrome, Multiple; Receptor, Platelet-Derived Growth Factor beta; Fibroma; Skin Neoplasms; PTEN Phosphohydrolase; Mutation
PubMed: 37899509
DOI: 10.1097/PAS.0000000000002146 -
Asian Journal of Surgery Oct 2023
Topics: Humans; Myopericytoma; Magnetic Resonance Imaging
PubMed: 37286461
DOI: 10.1016/j.asjsur.2023.05.067 -
Human Pathology Aug 2023Cellular myofibromas/myopericytomas harboring recurring SRF fusions are recently characterized as rare and diagnostically challenging entities, which can mimic myogenic...
Cellular myofibromas/myopericytomas harboring recurring SRF fusions are recently characterized as rare and diagnostically challenging entities, which can mimic myogenic sarcomas. These tumors belong to the pericytic/perivascular myoid tumor family, which comprises a group of genetically heterogenous and sometimes morphologically overlapping entities. In this series, we describe 3 cases of SRF-rearranged cellular myofibromas/perivascular myoid tumors with a smooth muscle-like phenotype in children. The children ranged from 7 to 16 years of age, and all presented with a painless mass in the extremities, 2 of which were deep-seated. Histologically, the tumors demonstrated a smooth muscle-like morphology and immunophenotype with mild atypia and low-level mitotic activity. Prominent dense collagen deposition and coarse calcification was observed in 2 tumors. RNA sequencing revealed SRF fusions in all cases, with each tumor showing a different 3' partner gene, RELA, NFKBIE, and NCOA3. Of these, NCOA3 has not been reported previously, and this expands the molecular spectrum by identifying a novel fusion partner for SRF. Given that histological features can be worrisome for a myogenic sarcoma, wider awareness of this emerging tumor is valuable to avoid potential misclassification.
Topics: Humans; Extremities; Myofibroma; Neoplasm Recurrence, Local; Sarcoma; Soft Tissue Neoplasms
PubMed: 37245628
DOI: 10.1016/j.humpath.2023.05.012 -
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 -
IJU Case Reports May 2023Myopericytomas usually occur in the extremities of older individuals; however, they also rarely occur in the penis. We report a case of myopericytoma in the corpus...
INTRODUCTION
Myopericytomas usually occur in the extremities of older individuals; however, they also rarely occur in the penis. We report a case of myopericytoma in the corpus cavernosum of the penis and review the relevant literature.
CASE PRESENTATION
A 76-year-old man presented with a slow-growing painless nodule on the left side of the penis. On physical examination, a non-tender, 7-mm mass was palpable. This tumor showed inhomogeneous low signal intensity on T2-weighted magnetic resonance imaging. The mass was excised and a myopericytoma diagnosed by pathological examination of the operative specimen.
CONCLUSION
We here report a rare case of myopericytoma in the corpus cavernosum of the penis. To the best of our knowledge, this is the second reported case of a myopericytoma in the penis and the first in the corpus cavernosum of the penis. Clinicians should keep this rare possibility in mind when investigating a mass in the penis.
PubMed: 37144080
DOI: 10.1002/iju5.12583 -
Indian Journal of Pathology &... 2023A 25-year-old woman had a mass of approximately 65 cm × 33 cm × 102 cm, located in the left paraaortic area on CT scan. It was diagnosed as retroperitoneal malignant...
A 25-year-old woman had a mass of approximately 65 cm × 33 cm × 102 cm, located in the left paraaortic area on CT scan. It was diagnosed as retroperitoneal malignant neoplasm on imaging. Afterward, open retroperitoneal tumor excision was performed. At laparotomy, the mass was carefully dissected from the ureter, renal artery, and aorta and excised as en-bloc. The pathological result was "myopericytoma." Histologically, the pathological findings characterized a pericytic neoplasm characterized by a perivascular growth of myoid tumor cells. In addition, there were uniform, oval-shaped cells with eosinophilic cytoplasm arranged in short fascicles around blood vessels. The cytologic atypia and mitoses were absent. There are many different tumors in the retroperitoneal area. Most of these lesions are malign nature. Nevertheless, for each benign and malign neoplasm, the preoperative imaging method is generally similar. This present case showed the significant findings of myopericytoma, a benign pathology located in the retroperitoneal area.
Topics: Female; Humans; Adult; Myopericytoma; Kidney; Diagnosis, Differential; Retroperitoneal Neoplasms
PubMed: 37077087
DOI: 10.4103/ijpm.ijpm_403_21