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Journal of Maxillofacial and Oral... Mar 2015Myofibroma and myofibromatosis is a well-recognized spindle cell neoplasm that occurs predominantly in infants and young children. They have been described under...
Myofibroma and myofibromatosis is a well-recognized spindle cell neoplasm that occurs predominantly in infants and young children. They have been described under different names since 1951. These lesions are a benign fibroblast and myofibroblast proliferation containing a biphasic presentation of spindle shaped cells surrounding a central zone of less differentiated cells focally arranged in a hemangiopericytoma like pattern. Classically these lesions are described in children younger than two, with 2/3rd present at birth and rarely in adults. Controversy exists as to an autosomal dominant or recessive inheritance or to a sporadic occurrence. Presented here is a unique case of myofibroma involving the mandible in a 11 year-old male patient. Clinically it mimicked more like a beningn tumor and not exhibiting any of its classical signs. The diagnosis could be established only after complete excision of the lesion and histopathological examination. There was no recurrence after a follow up period of 4 months.
PubMed: 25838671
DOI: 10.1007/s12663-011-0299-5 -
Folia Biologica 2014Podoplanin, D2-40, has been described in a variety of normal and neoplastic tissues. It is often used for highlighting lymphatics. We evaluated the expression of... (Comparative Study)
Comparative Study
Podoplanin, D2-40, has been described in a variety of normal and neoplastic tissues. It is often used for highlighting lymphatics. We evaluated the expression of podoplanin in α-smooth muscle actinpositive myofibroblasts producing the suburothelial layer in tunica propria of the urinary bladder that have some similar features with telocytes. Our results showed that these cells demonstrate distinct D2-40 immunoreactivity from telocytes occurring in the renal pelvis and ureter. We observed positive reaction not only in bioptic specimens from women with interstitial cystitis, but also in a control group of women and men treated for pathological bladder lesion different from interstitial cystitis. It is interesting that identical staining reaction was observed in the ureters only exceptionally. In addition, we examined samples from myofibroblastic tumoriform lesions of soft tissue such as nodular fascitis and fibromatosis (desmoid) and we obtained negative results. It means that the so-called myofibroblasts of urinary bladder tunica propria have a unique immunophenotype that has probably not been described until now. Our findings suggest that D2-40 can be used as a complementary immunostainer to α-smooth muscle actin on urinary bladder biopsies from patients with interstitial cystitis. The role of D2-40 as an immunohistochemical marker is still being investigated.
Topics: Adult; Antibodies, Monoclonal; Antibody Specificity; Biomarkers; Biopsy; Cystitis, Interstitial; Fasciitis; Female; Fibromatosis, Aggressive; Humans; Immunohistochemistry; Immunophenotyping; Male; Membrane Glycoproteins; Myofibroblasts; Myofibromatosis; Urinary Bladder; Urinary Bladder Diseases
PubMed: 25629270
DOI: No ID Found -
Anales de Pediatria (Barcelona, Spain :... Jul 2015
Topics: Humans; Infant, Newborn; Male; Myofibromatosis; Soft Tissue Neoplasms
PubMed: 25616547
DOI: 10.1016/j.anpedi.2014.12.007 -
Experimental and Therapeutic Medicine Dec 2014The present case report describes a case of infantile myofibromatosis (IM) with a pseudo-ulcerated plaque on the right side of the back of a fetus, detected in the 38th...
The present case report describes a case of infantile myofibromatosis (IM) with a pseudo-ulcerated plaque on the right side of the back of a fetus, detected in the 38th week of gestation using prenatal ultrasound. The fetus was examined weekly by ultrasound to measure the size of the mass. At birth, the scarlet mass was slightly elevated compared with the skin around it, with a cavity in the center. It appeared similar to an ulcerated plaque, but the surface of the mass was intact and smooth with a stratum lucidum. Thus, the mass was indicated to be a pseudo-ulcerated plaque. Three months later, the mass had grown larger and so was removed by surgery. The pathology of the mass was confirmed as IM. It is suggested that IM should be considered when a soft tissue tumor is presented by prenatal ultrasound.
PubMed: 25371730
DOI: 10.3892/etm.2014.2010 -
European Journal of Medical Genetics 2014Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000...
Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign course, usually with spontaneous regression of the tumors. On the other hand, the prognosis tends to be unfavorable when there is involvement of vital organs, which can lead to significant mortality. The identification of rare variants in genes that may cause IM is the first step towards the possibility of targeted treatments; however, the molecular pathogenesis of IM is poorly understood. In the present study, we report the results of exome sequence analysis of two brothers diagnosed with visceral multicentric infantile myofibromatosis, and their healthy consanguineous parents. In the two brothers we identified novel homozygous variants in NDRG4 gene (N-myc downregulated gene family member 4) and in RLTPR gene (RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing). The healthy parents were heterozygous for both variants. Consistent with the phenotype of IM, NDRG4 is a tumor-related gene; its expression has been shown to be decreased in numerous tumor types, suggesting that it might be a tumor suppressor gene. Additionally, studies have demonstrated that NDRG4 may have a role in cell survival and tumor invasion. We thus propose that this homozygous variant in NDRG4 may be the causative variant of the autosomal recessive form of IM in the studied family and that it should be investigated in other cases of autosomal recessive infantile myofibromatosis.
Topics: Amino Acid Sequence; Base Sequence; Child; Consanguinity; DNA Mutational Analysis; Exome; Homozygote; Humans; Male; Molecular Sequence Data; Muscle Proteins; Mutation, Missense; Myofibromatosis; Nerve Tissue Proteins; Polymorphism, Single Nucleotide; Ultrasonography
PubMed: 25241110
DOI: 10.1016/j.ejmg.2014.08.010 -
Genetics and Molecular Research : GMR Aug 2014Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis...
Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB). We report here two siblings with infantile myofibromatosis and with a PDGFRB mutation identified by exome sequence analysis. However, the unaffected mother also had the same PDGFRB mutation. We showed that both children had also inherited from their healthy father a heterozygous mutation in the gene for receptor protein tyrosine phosphatase gamma (PTPRG), an enzyme known to dephosphorylate PDGFRB. We suggest that in this family, the additional mutation in PTPRG may explain the full phenotypic penetrance in the siblings affected, in comparison with the unaffected mother.
Topics: Adult; Base Sequence; Child; Exome; Female; Gene Expression Regulation; Genes, Modifier; Genotype; Heterozygote; Homozygote; Humans; Male; Molecular Sequence Data; Mutation; Myofibromatosis; Pedigree; Penetrance; Phenotype; Receptor, Platelet-Derived Growth Factor beta; Receptor-Like Protein Tyrosine Phosphatases, Class 5; Siblings
PubMed: 25158255
DOI: 10.4238/2014.August.15.11 -
Dermatology Online Journal Feb 2014Infantile digital fibromatosis is a rare benign fibro/myofibroblastic proliferation that almost only occurs on the fingers and toes. It is characterized by bright,...
Infantile digital fibromatosis is a rare benign fibro/myofibroblastic proliferation that almost only occurs on the fingers and toes. It is characterized by bright, round, intracytoplasmic, eosinophilic inclusions. We present a case of infantile digital fibromatosis in a 6-years-old child.
Topics: Biopsy; Child; Fingers; Humans; Magnetic Resonance Imaging; Male; Myofibromatosis; Subcutaneous Tissue
PubMed: 24612583
DOI: No ID Found -
Oncology Letters Nov 2013Infantile myofibromatosis (IM) is the most common fibrous tumor of infancy. IM may arise in a solitary or multicentric form, with similar histopathological findings,...
Infantile myofibromatosis (IM) is the most common fibrous tumor of infancy. IM may arise in a solitary or multicentric form, with similar histopathological findings, however, the clinical features and prognoses may vary. The solitary form tends to occur predominantly in males and is typically observed in the dermis, subcutis or deep soft tissues. The reported incidence of solitary osseous myofibromatosis is rare. Furthermore, the majority of solitary IM cases of the bone occur in the craniofacial bones, while the occurrence of solitary osseous myofibromatosis on the extremities has been sporadically reported. The present study describes two cases of solitary IM involving the bones of the upper extremities in females who were over two years old. The cases show unusual symptom presentation and the tumor origin is in a rarely observed location. The study discusses the clinical, radiological and pathological features, in addition to the previously described etiology, prognosis and treatment options for this condition.
PubMed: 24179532
DOI: 10.3892/ol.2013.1584 -
Genes, Chromosomes & Cancer Nov 2013Glomus tumors (GT) have been classified among tumors of perivascular smooth muscle differentiation, together with myopericytoma, myofibroma/tosis, and angioleiomyoma,...
Glomus tumors (GT) have been classified among tumors of perivascular smooth muscle differentiation, together with myopericytoma, myofibroma/tosis, and angioleiomyoma, based on their morphologic overlap. However, no molecular studies have been carried out to date to investigate their genetic phenotype and to confirm their shared pathogenesis. RNA sequencing was performed in three index cases (GT1, malignant GT; GT2, benign GT and M1, multifocal myopericytoma), followed by FusionSeq data analysis, a modular computational tool developed to discover gene fusions from paired-end RNA-seq data. A gene fusion involving MIR143 in band 5q32 was identified in both GTs with either NOTCH2 in 1p13 in GT1 or NOTCH1 in 9q34 in GT2, but none in M1. After being validated by FISH and RT-PCR, these abnormalities were screened on 33 GTs, 6 myopericytomas, 9 myofibroma/toses, 18 angioleiomyomas and in a control group of 5 sino-nasal hemangiopericytomas. Overall NOTCH2 gene rearrangements were identified in 52% of GT, including all malignant cases and one NF1-related GT. No additional cases showed NOTCH1 rearrangement. As NOTCH3 shares similar functions with NOTCH2 in regulating vascular smooth muscle development, the study group was also investigated for abnormalities in this gene by FISH. Indeed, NOTCH3 rearrangements were identified in 9% of GTs, all present in benign soft tissue GT, one case being fused to MIR143. Only 1/18 angioleiomyomas showed NOTCH2 gene rearrangement, while all the myopericytomas and myofibroma/toses were negative. In summary, we describe novel NOTCH1-3 rearrangements in benign and malignant, visceral, and soft tissue GTs.
Topics: Adolescent; Adult; Aged; Gene Fusion; Gene Rearrangement; Glomus Tumor; Humans; MicroRNAs; Middle Aged; Receptors, Notch; Soft Tissue Neoplasms
PubMed: 23999936
DOI: 10.1002/gcc.22102 -
American Journal of Human Genetics Jun 2013Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and...
Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder. In eight of the families, we identified one of two disease-causing mutations, c.1978C>A (p.Pro660Thr) and c.1681C>T (p.Arg561Cys), in PDGFRB. Intriguingly, one family did not have either of these PDGFRB mutations but all affected individuals had a c.4556T>C (p.Leu1519Pro) mutation in NOTCH3. Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.
Topics: Amino Acid Sequence; Base Sequence; Female; Genes, Dominant; Genetic Association Studies; Humans; Male; Mutation, Missense; Myofibromatosis; Pedigree; Receptor, Notch3; Receptor, Platelet-Derived Growth Factor beta; Receptors, Notch; Sequence Analysis, DNA
PubMed: 23731542
DOI: 10.1016/j.ajhg.2013.04.024