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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 -
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 -
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 -
Radiology Case Reports Jan 2024Infantile myofibromatosis (IM) is a mesenchymal tumor that may present in infants in a couple of major forms: solitary (myofibroma) and multicentric (myofibromatosis)...
Infantile myofibromatosis (IM) is a mesenchymal tumor that may present in infants in a couple of major forms: solitary (myofibroma) and multicentric (myofibromatosis) which can be more subdivided into IM without or with visceral involvement. The tumors present as nodular lesions in the soft tissues, bones, and/or internal organs. Although the success of imaging in suggesting the correct diagnosis can't be denied, histopathology and Immunohistochemical examinations are necessary to confirm the diagnosis of IM as it might be misdiagnosed as a malignant tumor. We report a case of solitary infantile myofibromatosis in the upper extremities discovered in a 9-year-old girl. She had swelling and an enlargement on the posterior forearm on the ulnar side. The X-ray showed a lytic lesion with swollen soft tissue. The patient underwent an MRI which suggested the diagnosis of myofibroma. Then, solitary myofibroma was confirmed histologically. Infancy's most prevalent fibrous tumor is IM. Its prognosis depends on the visceral involvement. Imaging, especially MRI is the ideal tool to diagnose it.
PubMed: 38046916
DOI: 10.1016/j.radcr.2023.09.063 -
BMC Medical Genomics Aug 2023Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases... (Review)
Review
BACKGROUND
Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here, we present a case of disseminated form IM (DFIM) with a diagnosis established on prenatal genetic grounds.
CASE PRESENTATION
A woman at 23 weeks of gestation was referred for ultrasound evaluation of fetal kidney abnormality. Generalized masses in the skin and muscle of the fetus developed at 28 weeks. Prenatal genetic testing identified the pathogenic heterozygous variant c.1681C > T (p.R561C) of the PDGFRB gene inherited from the asymptomatic father. Intrauterine demise occurred at 31 weeks. Autopsy confirmed DFIM with involvement of the heart and kidney. All cases of prenatally detected IM were reviewed, revealing an association of high mortality with DFIM.
CONCLUSIONS
Prenatal IM diagnosis is difficult. Initial detection is always based on ultrasound. DFIM has high mortality. The germline p.R561C mutation in PDGFRB may cause fetal demise due to severe visceral involvement of IM. Prenatal genetic testing provides a diagnosis before pathological results are available, leading to better counseling and management of pregnancy with a fetus with IM.
Topics: Pregnancy; Female; Humans; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta; Germ-Line Mutation; Prenatal Diagnosis
PubMed: 37568122
DOI: 10.1186/s12920-023-01612-w -
Journal of Surgical Case Reports May 2023Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and early childhood. Solitary intracranial involvement is rare and often unrecognized. This...
Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and early childhood. Solitary intracranial involvement is rare and often unrecognized. This makes its early diagnosis and adequate management difficult. The majority of lesions are localized to the skull or dura with variable intracranial extension. Herein, we report a misdiagnosed and aggressive presentation of a solitary IM of the petrous bone. Our aim is to discuss histopathological differential diagnoses and management difficulties.
PubMed: 37192874
DOI: 10.1093/jscr/rjad237 -
Cureus Mar 2023Infantile myofibromatosis is an uncommon soft tissue neoplasm that may present at birth or in early infancy. Although rare, this neoplasm is one of the most common...
Infantile myofibromatosis is an uncommon soft tissue neoplasm that may present at birth or in early infancy. Although rare, this neoplasm is one of the most common benign fibrous tumors of infancy. Even though these tumors do not spread, they can compress or damage nearby organs. There is not an established management protocol, but it is advisable to maintain periodic clinical and imagological control until stability. Watchful waiting is an option to consider in the absence of problematic symptoms and visceral involvement. We report a case of solitary infantile myofibromatosis, without visceral involvement. It showed an initial rapid growth, raising concern among medical doctors and motivating soft tissue biopsy, always recommended as the clinical picture deviates from the classic presentation. Histology interpretation is often challenging, making genetics and clinical evaluation essential to exclude and prevent the misdiagnosing of more aggressive lesions.
PubMed: 37033510
DOI: 10.7759/cureus.35885 -
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