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Cureus May 2024A rare tumor called hemangiopericytoma develops from the pericytes, the cells that surround blood vessels. They frequently grow slowly and might be asymptomatic...
A rare tumor called hemangiopericytoma develops from the pericytes, the cells that surround blood vessels. They frequently grow slowly and might be asymptomatic initially. Although they can develop anywhere in the body, these tumors are most frequently found in the head, pelvis, and legs. This uncommon tumor originates in soft tissues like fat, muscles, tendons, nerves, blood vessels, and other fibrous tissues. The tumor in adolescence can be benign or malignant; it frequently develops in the bones but has the potential to metastasize to the lungs. Imaging tests, such as MRIs or CT scans, are commonly used in diagnosis to determine the location and size of the tumor. We present a case of a 23-year-old male who complained of swelling in his left thigh that had persisted for two years. He underwent multiple biopsies which were inconclusive until wide local excision of the swelling was done. On histopathology, the excised tumor was suggestive of hemangiopericytoma. The patient was advised of radiotherapy for completion of the treatment.
PubMed: 38826872
DOI: 10.7759/cureus.59514 -
Journal of Oral Pathology & Medicine :... May 2024Myofibromas are rare benign neoplasms composed of myoid cells and myofibroblasts. This study aimed to systematically review case reports and a series of myofibromas (MF)... (Review)
Review
BACKGROUND
Myofibromas are rare benign neoplasms composed of myoid cells and myofibroblasts. This study aimed to systematically review case reports and a series of myofibromas (MF) and myofibromatosis (MFT) occurring in the oral and maxillofacial regions in order to describe their main clinicopathological features.
METHODS
This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Electronic searches were conducted in 2023 in four databases: MEDLINE/PubMed, Web of Science, Scopus, and EMBASE. A manual search and a search in the grey literature were also conducted. The lesions were classified as MF or MFT according to their original report.
RESULTS
A total of 169 cases were included in this systematic review. Men were slightly more affected, with a painless nodule. When occurring in soft tissue, MF usually developed in the gingiva (mean age:29.23 ± 21.93 years) and when it was intra-osseous, it occurred more frequently in the posterior mandible (mean age:14.33 ± 15.62 years). MFT occurred mainly in the mandible and was predominantly described as well-circumscribed masses of spindle cells organized in fascicles with a prominent vascular activity in a hemangiopericytoma-like pattern. The lesions were mainly positive for smooth muscle actin and vimentin immunomarkers. Surgical excision was the treatment of choice in the majority of cases and recurrence was observed in only three cases.
CONCLUSION
MF and MFT affect more men, with an indolent clinical course. Intra-osseous tumors and MFT seem to occur more frequently in younger individuals. These lesions seem to have a good prognosis and low recurrence.
PubMed: 38711183
DOI: 10.1111/jop.13537 -
Surgical Case Reports Apr 2024Myofibromas are rare mesenchymal tumors with a predilection for the head, neck, and oral cavity. Primarily affecting infants and young children, these tumors typically...
BACKGROUND
Myofibromas are rare mesenchymal tumors with a predilection for the head, neck, and oral cavity. Primarily affecting infants and young children, these tumors typically manifest as superficial painless nodules. Diagnosis is confirmed through histopathological examination of a biopsy, revealing nodules characterized by spindle cell proliferation. To our knowledge, only two cases of pinna myofibroma have been previously reported in the literature.
CASE PRESENTATION
Here, we present the case of a three-year-old male who developed a myofibroma of the left auricle following trauma to the area one year earlier. The patient underwent surgical resection without any postoperative complications. The patient later returned with a lesion consistent with hypertrophic scar.
CONCLUSIONS
This study aims to provide a comprehensive review of the clinical presentation, histopathologic and immunohistochemical features, and surgical management of this unique case of myofibroma of the pinna.
PubMed: 38652337
DOI: 10.1186/s40792-024-01879-w -
Pediatric Dermatology 2024The authors present a case of a proliferative nodule located beneath an infant's lower lip that was initially discovered on prenatal ultrasound and fetal magnetic...
The authors present a case of a proliferative nodule located beneath an infant's lower lip that was initially discovered on prenatal ultrasound and fetal magnetic resonance imaging (MRI). Biopsy revealed a smooth muscle actin-positive spindled cell proliferation with hemangiopericytoma-like vessels consistent with infantile myofibromatosis (IM). Since the location prevented surgical management, the clinicians opted to observe the lesion. Ultimately, the lesion fully regressed on its own confirming conservative management is an option for isolated IM.
Topics: Humans; Female; Infant; Magnetic Resonance Imaging; Myofibroma; Pregnancy; Myofibromatosis; Ultrasonography, Prenatal; Prenatal Diagnosis; Lip Neoplasms; Neoplasms, Muscle Tissue; Male
PubMed: 38409999
DOI: 10.1111/pde.15557 -
Ophthalmology Science 2024To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis.
PURPOSE
To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis.
DESIGN
Case series with genetic and functional analyses.
PARTICIPANTS
Four individuals from 2 unrelated families with clinical signs of corneal myofibromatosis were investigated.
METHODS
Exome-based panel sequencing for platelet-derived growth factor receptor beta gene () and notch homolog protein 3 gene () was performed in the respective index patients. One clinically affected member of each family was tested for the pathogenic variant detected in the respective index by Sanger sequencing. Immunohistochemical staining on excised corneal tissue was conducted. Functional analysis of the individual variants was performed by luciferase reporter assays on transfected porcine aortic endothelial cells using tyrosine kinase inhibitors. Protein expression analysis of mutated PDGFRB was analyzed by Western blot.
MAIN OUTCOME MEASURES
Sequencing data, immunohistochemical stainings, functional analysis of variants, and protein expression analysis.
RESULTS
We identified 2 novel, heterozygous gain-of-function variants in in 4 individuals from 2 unrelated families with corneal myofibromatosis. Immunohistochemistry demonstrated positivity for alpha-smooth muscle actin and β-catenin, a low proliferation rate in Ki-67 (< 5%), marginal positivity for Desmin, and negative staining for Caldesmon and CD34. In all patients, recurrence of disease occurred after corneal surgery. When transfected in cultured cells, the variants conferred a constitutive activity to the receptor in the absence of its ligand and were sensitive to the tyrosine kinase inhibitor imatinib. The variants can both be classified as likely pathogenic regarding the American College of Medical Genetics and Genomics classification criteria.
CONCLUSIONS
We describe 4 cases of corneal myofibromatosis caused by novel variants with autosomal dominant transmission. Imatinib sensitivity suggests perspectives for targeted therapy preventing recurrences in the future.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
PubMed: 38374928
DOI: 10.1016/j.xops.2023.100444 -
Cureus Jan 2024Myofibromas are observed in both infantile and adult presentations, with key differences in the number and severity of lesions between these two groups. Infantile...
Myofibromas are observed in both infantile and adult presentations, with key differences in the number and severity of lesions between these two groups. Infantile presentations encompass both indolent, isolated cutaneous lesions, as well as aggressive, multicentric presentations with visceral involvement. Adult myofibromas appear to be characterized by a single isolated cutaneous lesion, generally asymptomatic and following a benign clinical course. The occurrence of adult multifocal myofibromas has not yet been described in the literature. Here, we report a case of a 57-year-old female who presented with two minimally symptomatic soft tissue lesions on her right leg, with the pathologic findings of each lesion consistent with a cutaneous myofibroma. This case report describes a rare presentation of adult-onset multifocal cutaneous myofibromas.
PubMed: 38371101
DOI: 10.7759/cureus.52438 -
JBJS Case Connector Jan 2024A 15-month-old boy who was being followed for developmental dysplasia of the hip because of breech presentation was discovered to have a solitary infantile myofibroma in...
CASE
A 15-month-old boy who was being followed for developmental dysplasia of the hip because of breech presentation was discovered to have a solitary infantile myofibroma in the left femoral neck. The patient was avoiding weight-bearing on the affected extremity; thus, stabilization of the femoral neck was performed using a proximal femur locking plate. Postoperatively, he achieved all gross motor developmental milestones.
CONCLUSION
This report is the first to describe a solitary infantile myofibroma in the femoral neck and demonstrates the utility of operative stabilization of these lesions.
Topics: Male; Humans; Infant; Myofibromatosis; Femur Neck; Myofibroma; Femur
PubMed: 38363879
DOI: 10.2106/JBJS.CC.23.00478 -
Child's Nervous System : ChNS :... Apr 2024Infantile myofibromatosis is a rare entity of childhood characterized by benign myofibroblastic tumors in the soft tissues, the bones, and occasionally the viscera.... (Review)
Review
OBJECTIVE
Infantile myofibromatosis is a rare entity of childhood characterized by benign myofibroblastic tumors in the soft tissues, the bones, and occasionally the viscera. Solitary skeletal lesions are relatively uncommon. Calvarial involvement should be distinguished from more aggressive tumors for appropriate treatment.
METHODS
We reviewed solitary infantile myofibroma of the calvarium and discussed the relevant computed tomography and magnetic resonance imaging findings along with differential diagnosis. A case study of the frontal bone in a 5-month-old girl was also presented.
RESULTS
Fourteen cases were reviewed, including the current case. Of the 13 cases with known sex, eight were male and five female. The mean age was 3.03 with an age range of 0.41-9 years. Nine of the 14 tumors were in the frontal bone. The lesions were intradiploic with tabula interna and/or externa of the calvaria involvement. The mean largest diameter was 22.3 mm. Upon computed tomography, all the lesions were expansile and lytic, and hypoattenuated, isoattenuated or occasionally hyperatenuated. Calcification was not seen. On magnetic resonance imaging, most neoplasms were hypointense on T1-weighted and T2-weighted images. Neoplasms showed hypointense signal on diffusion-weighted imaging and hyperintense on apparent diffusion coefficient, without restricted diffusion in three cases. All lesions were intensely enhanced after gadolinium administration. Treatment was total surgical resection and recurrence was not observed during follow-up.
CONCLUSIONS
Infantile myofibromas are rare, typically intradiploic expansile lytic lesions with tabula interna and/or externa involvement. Distinctive imaging features include the presence of hipointense signals on T2-weighted magnetic resonance images without restricted diffusion on diffusion-weighted imaging. A slow-growing, firm, painless, and nontender mass with supportive imaging findings should raise suspicion of the disease.
Topics: Female; Humans; Infant; Diffusion Magnetic Resonance Imaging; Frontal Bone; Magnetic Resonance Imaging; Myofibroma; Myofibromatosis
PubMed: 38224363
DOI: 10.1007/s00381-024-06289-9 -
Archives of Disease in Childhood Mar 2024
Topics: Male; Humans; Infant; Myofibromatosis; Magnetic Resonance Imaging
PubMed: 38123918
DOI: 10.1136/archdischild-2023-326158