RESUMO
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.
Assuntos
Miofibroma , Miofibromatose , Humanos , Miofibroma/patologia , Masculino , Miofibromatose/patologia , Adulto , Feminino , Adolescente , Criança , Adulto Jovem , Pessoa de Meia-Idade , Neoplasias Bucais/patologia , IdosoRESUMO
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.
Assuntos
Imageamento por Ressonância Magnética , Humanos , Lactente , Gravidez , Neoplasias Labiais/patologia , Neoplasias Labiais/cirurgia , Neoplasias Labiais/diagnóstico , Miofibroma/patologia , Miofibroma/diagnóstico , Miofibromatose/congênito , Miofibromatose/patologia , Miofibromatose/diagnóstico , Neoplasias de Tecido Muscular/patologia , Neoplasias de Tecido Muscular/diagnóstico , Neoplasias de Tecido Muscular/cirurgia , Diagnóstico Pré-Natal , Ultrassonografia Pré-NatalRESUMO
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.
Assuntos
Miofibroma , Miofibromatose , Miofibromatose/congênito , Masculino , Humanos , Lactente , Miofibromatose/diagnóstico por imagem , Miofibromatose/cirurgia , Miofibromatose/patologia , Colo do Fêmur/diagnóstico por imagem , Colo do Fêmur/cirurgia , Colo do Fêmur/patologia , Miofibroma/patologia , Fêmur/diagnóstico por imagem , Fêmur/cirurgia , Fêmur/patologiaRESUMO
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.
Assuntos
Miofibroma , Miofibromatose , Feminino , Humanos , Lactente , Imagem de Difusão por Ressonância Magnética , Osso Frontal/patologia , Imageamento por Ressonância Magnética , Miofibroma/patologia , Miofibroma/cirurgia , Miofibromatose/diagnóstico , Miofibromatose/patologia , Miofibromatose/cirurgiaRESUMO
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.
Assuntos
Miofibromatose , Gravidez , Feminino , Humanos , Miofibromatose/diagnóstico por imagem , Miofibromatose/genética , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Mutação em Linhagem Germinativa , Diagnóstico Pré-NatalRESUMO
BACKGROUND: Infantile myofibromatosis (IM) is a rare benign tumor of infancy. Cases with solitary and multicentric disease usually spontaneously regress, but multicentric disease with visceral involvement carries a poor prognosis. Few cases of multicentric disease with central nervous system (CNS) involvement have been reported, and none report survival. OBSERVATIONS: We present a newborn with multicentric IM with cutaneous, visceral, and CNS involvement. She was treated with vinblastine, methotrexate, and the novel addition of intrathecal methotrexate with treatment response after 1 year of therapy. CONCLUSIONS: Multicentric IM with CNS involvement can be successfully treated with a multimodal approach of chemotherapy with the addition of intrathecal methotrexate and surgery.
Assuntos
Metotrexato , Miofibromatose , Recém-Nascido , Feminino , Humanos , Metotrexato/uso terapêutico , Miofibromatose/terapia , Miofibromatose/patologia , Vimblastina/uso terapêuticoRESUMO
Infantile myofibromatosis is a rare benign congenital tumour that often regresses spontaneously but may pose therapeutic challenges in its widespread visceral form. We present the case of a full-term neonate with generalized infantile myofibromatosis including ubiquitous subcutaneous and muscular nodules, a tumour in the mastoid and disseminated intestinal involvement. The intestinal tumours led to a mechanical ileus with intestinal perforation within the first days of life. After partial small bowel resection and necessary proximal jejunostomy the boy was dependent on total parenteral nutrition. Chemotherapy with vinblastine and methotrexate was started and was temporarily supplemented with imatinib. Feeding stayed impossible despite tumour shrinkage. At the age of 4.5 months, restoration of intestinal continuity with further stricturoplasties was performed which - for the first time - allowed complete oral feeding. Chemotherapy was continued for further two months. Currently, the child is in good general condition with growth and further disease regression. This report suggests that massive visceral involvement of infantile myofibromatosis may require extensive intestinal surgery, as conservative therapy cannot resolve the disease and its sequelae.
Assuntos
Miofibromatose , Recém-Nascido , Masculino , Criança , Humanos , Lactente , Miofibromatose/diagnóstico , Miofibromatose/cirurgia , Miofibromatose/congênito , Mesilato de Imatinib/uso terapêuticoRESUMO
Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of pediatric myofibroma/myofibromatosis of the soft tissue and bone. Methods: All cases of pediatric myoï¬broma/myoï¬bromatosis of the soft tissue and bone diagnosed between January 2011 and December 2018 were retrieved from the surgical pathology records in the Department of Pathology, Beijing Jishuitan Hospital, Beijing, China. Clinical and radiological data were collected. H&E and immunohistochemistry were used to examine histological and immunophenotypic features and to make the diagnosis and differential diagnosis. The relevant literature was also reviewed. Results: Twenty-eight cases of pediatric myofibroma/myofibromatosis of the soft tissue and bone were respectively collected. The patients' ages ranged from 2 months to 14 years, with a mean age of 7 years. There were 7 females and 21 males. There were 12 cases located in soft tissue, including the finger (n=9), upper arm (n=1) and foot (n=2). There were 14 cases located in the bone of limb, including the femur (n=8), tibia (n=4), clavicle (n=2), fibula (n=2) and radius (n=1). There were 2 cases of myofibromatosis involving multiple bones. Radiology showed lytic lesions in the bone. The proliferation of spindle-shaped myofibroblasts arranged in fascicles with indistinct eosinophilic cytoplasm and bland nuclei, with no pleomorphism and cytological atypia. The characteristic histologic structure was the biphasic nodular growth pattern with cellular and paucicellular regions. The tumors might arrange in a hemangiopericytoma-like pattern. The stroma varied between dense fibrosis and myxoid changes. The reactive new bone formation and inflammatory cell infiltration also existed. Immunohistochemical study showed that the SMA was positive. The surgical resections were performed. One of the patients had tumor recurrence as a result of 11-month follow-up. Conclusions: The pediatric myoï¬broma/myoï¬bromatosis of the soft tissue and bone is a very rare benign tumor and has a good prognosis. It has a characteristic morphology and its differential diagnosis from other spindle cell tumors could be made with the immunohistochemical analysis.
Assuntos
Leiomioma , Miofibroma , Miofibromatose , Criança , Feminino , Humanos , Lactente , Masculino , Osso e Ossos/patologia , Diagnóstico Diferencial , Miofibroma/diagnóstico , Miofibromatose/diagnóstico , Pré-Escolar , AdolescenteRESUMO
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.
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Miofibromatose , Miopericitoma , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Criança , Adulto , Lábio/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Sarcoma/genética , Biomarcadores Tumorais/genética , Coativador 2 de Receptor NuclearRESUMO
Penttinen syndrome is a rare progeroid disorder caused by mutations in platelet-derived growth factor (PDGF) receptor beta (encoded by the PDGFRB proto-oncogene) and characterized by a prematurely aged appearance with lipoatrophy, skin lesions, thin hair and acro-osteolysis. Activating mutations in PDGFRB have been associated with other human diseases, including Kosaki overgrowth syndrome, infantile myofibromatosis, fusiform aneurysms, acute lymphoblastic leukaemia and myeloproliferative neoplasms associated with eosinophilia. The goal of the present study was to characterize the PDGFRB p.Val665Ala variant associated with Penttinen syndrome at the molecular level. This substitution is located in a conserved loop of the receptor tyrosine kinase domain. We observed that the mutant receptor was expressed at a lower level but showed constitutive activity. In the absence of ligand, the mutant activated STAT1 and elicited an interferon-like transcriptional response. Phosphorylation of STAT3, STAT5, AKT and phospholipase Cγ was weak or undetectable. It was devoid of oncogenic activity in two cell proliferation assays, contrasting with classical PDGF receptor oncogenic mutants. STAT1 activation was not sensitive to ruxolitinib and did not rely on interferon-JAK2 signalling. Another tyrosine kinase inhibitor, imatinib, blocked signalling by the p.Val665Ala variant at a higher concentration compared with the wild-type receptor. Importantly, this concentration remained in the therapeutic range. Dasatinib, nilotinib and ponatinib also inhibited the mutant receptor. In conclusion, the p.Val665Ala variant confers unique features to PDGF receptor ß compared with other characterized gain-of-function mutants, which may in part explain the particular set of symptoms associated with Penttinen syndrome.
Assuntos
Acro-Osteólise , Miofibromatose , Receptor beta de Fator de Crescimento Derivado de Plaquetas , Fator de Transcrição STAT1 , Acro-Osteólise/genética , Idoso , Humanos , Interferons/metabolismo , Deformidades Congênitas dos Membros/genética , Miofibromatose/genética , Miofibromatose/metabolismo , Progéria/genética , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Receptor beta de Fator de Crescimento Derivado de Plaquetas/metabolismo , Fator de Transcrição STAT1/metabolismoRESUMO
Infantile myofibroma is a rare, benign tumour of infancy typically managed surgically. In a minority of cases, more aggressive disease is seen and chemotherapy with vinblastine and methotrexate may be used, although evidence for this is limited. Chemotherapy dosing in infants is challenging, and vinblastine disposition in infants is unknown. We describe the use of vinblastine therapeutic drug monitoring in four cases of infantile myofibroma. Marked inter- and intrapatient variability was observed, highlighting the poorly understood pharmacokinetics of vinblastine in children, the challenges inherent in treating neonates, and the role of adaptive dosing in optimising drug exposure in challenging situations.
Assuntos
Miofibroma , Miofibromatose , Criança , Monitoramento de Medicamentos , Humanos , Lactente , Recém-Nascido , Miofibroma/tratamento farmacológico , VimblastinaRESUMO
Infantile myofibroma (IM) commonly presents as a benign cutaneous fibrous tumor in infancy. Although the majority of solitary IM regress without any morbidity, some cases have underlying bone or visceral involvement that can lead to both morbidity and mortality. In this report with review of the literature, we present two cases of solitary cutaneous IM with internal involvement and discuss screening cases of solitary IM with full body imaging.
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Miofibroma , Miofibromatose , Neoplasias Cutâneas , Neoplasias de Tecidos Moles , Osso e Ossos , Humanos , Miofibroma/diagnóstico , Miofibroma/patologia , Miofibromatose/diagnóstico , Miofibromatose/patologia , Neoplasias Cutâneas/diagnósticoRESUMO
Infantile myofibromatosis (IM) is the most common benign fibrous tumor of infancy, characterized by the development of single or multiple nodules in the skin, soft tissues, bone, and/or viscera. Multicentric forms are less frequent and can affect different tissues simultaneously and their prognosis depends on their extension and visceral involvement. Rarely, these forms are limited to the skeleton, in which case the absence of extraosseous lesions makes it difficult to suspect this entity. We present the case of an infant with multiple radiolucent lesions involving the skull, ribs, spine, and long bones, discovered in a radiological study performed after a minor trauma. A broad differential diagnosis was considered based on the osteolytic and polyostotic nature of the lesions on imaging studies. This report details and illustrates the typical radiological findings in bony involvement of IM, which suggest this disorder over other diagnostic options.