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Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi... Oct 2020Infantile myofibromatosis is a rare benign childhood myofibroblastoma. A case of infantile myofibromatosis of the left mandible was reported, and relevant literature was...
Infantile myofibromatosis is a rare benign childhood myofibroblastoma. A case of infantile myofibromatosis of the left mandible was reported, and relevant literature was reviewed to discuss the clinical characteristics, pathogenesis, imaging characteristics, pathological characteristics, differential diagnosis, and the treatment of the tumor to improve the understanding of the tumor.
Topics: Child; Diagnosis, Differential; Humans; Mandible; Myofibromatosis; Neoplasms, Muscle Tissue
PubMed: 33085248
DOI: 10.7518/hxkq.2020.05.021 -
Pediatric Blood & Cancer Feb 2021Infantile myofibromatosis (IM) is a rare benign fibrous tumor with diverse clinical presentations and treatments, such as watchful waiting, surgical excision, and...
BACKGROUND
Infantile myofibromatosis (IM) is a rare benign fibrous tumor with diverse clinical presentations and treatments, such as watchful waiting, surgical excision, and low-dose chemotherapy.
PROCEDURE
Clinical presentation and tailored treatment of five infants with solitary and generalized IM are described, together with a review of the literature.
RESULTS
Three patients underwent total-body magnetic resonance imaging (MRI) at diagnosis and during follow up, which revealed disease extension that aided in designing treatment. Visceral involvement included central nervous system, cardiac, gastrointestinal, muscle, bone, and subcutaneous tissue lesions. The patient with the solitary form of IM was followed up without treatment and had spontaneous improvement. Patients with the multicentric form received intravenous low-dose methotrexate and vinblastine chemotherapy. One patient who received oral methotrexate due to cardiac involvement and unfeasible central line access had excellent results. Recurrence was successfully treated by the same methotrexate and vinblastine regimen as that administered at diagnosis.
CONCLUSIONS
We suggest screening all patients with one or more IM lesions by means of total body MRI due to its inherent superior soft tissue resolution. Total-body MRI may also be used for routine follow up. Oral methotrexate can be administered successfully in patients that lack central line access, and recurrent lesions can be treated with the same chemotherapeutic combination as that given at diagnosis. Long-term follow up is needed, since recurrence could appear years after initial presentation of the disease.
Topics: Antineoplastic Agents; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Methotrexate; Myofibromatosis; Remission, Spontaneous; Retrospective Studies; Soft Tissue Neoplasms; Vinblastine
PubMed: 33063933
DOI: 10.1002/pbc.28769 -
Annales de Dermatologie Et de... Nov 2020Dermatomyofibroma (DMF) is a rare, benign tumour that is little-known among clinicians. However, it has typical clinical, histological and immunohistochemical features...
INTRODUCTION
Dermatomyofibroma (DMF) is a rare, benign tumour that is little-known among clinicians. However, it has typical clinical, histological and immunohistochemical features that distinguish it from other fibrous tumours.
METHOD
We report herein on the clinical, histological and immunohistochemical aspects of eight cases of DMF identified between 2008 and 2019 at the dermatopathology laboratory of Strasbourg.
RESULTS
Five men and three women of average age at diagnosis of 21 years and 9 months (range: 9 to 54 years) were included. Lesions ranged in size from 1 to 11cm. Most cases involved the upper body (6 cases), with one case on the abdomen and one on the side. The lesions presented as a solitary asymptomatic red or reddish brown nodule or plaque that gradually developed. The plaques were hard and caused functional discomfort on movement of the neck. Well-circumscribed spindle cell proliferation was noted in the reticular dermis parallel to the epidermis, without mitotic figures or cytological atypia. The subcutis was infiltrated in 5 cases. Expression of calponin was positive in all cases but one, while that of caldesmon, PS100 and desmin was negative. Expression of smooth muscle actin was positive in 2 cases, and both cases were also positive for stromylesin-3. CD34 was positive in 2 cases.
DISCUSSION
DMF is an extensive tumour capable of attaining large diameters and must be completely excised. The main differential diagnoses of DMF are dermatofibrosarcoma protuberans, dermatofibroma, fibrous hamartoma, myofibromatosis and cheloid. It can be identified based on various factors, whether clinical (young age, extensive lesion), histological (horizontal proliferation in the reticular dermis) or immunohistochemical (positive expression of calponin).
Topics: Dermis; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Keloid; Male; Skin Neoplasms
PubMed: 33059951
DOI: 10.1016/j.annder.2020.01.025 -
Radiology Case Reports Nov 2020Infantile myofibromatosis, the most common fibrous tumor of infancy, is classified in 2 forms; as a solitary nodule or as numerous, widely-distributed multicentric...
Infantile myofibromatosis, the most common fibrous tumor of infancy, is classified in 2 forms; as a solitary nodule or as numerous, widely-distributed multicentric lesions with or without visceral involvement. Although benign, multicentric myofibromas are still associated with a high incidence of morbidity and mortality due to the infiltration of critical structures. Herein, we present a case of an infant with aggressive and mutation-negative myofibromas distributed throughout the vascular, respiratory, and gastrointestinal systems. The extensive disease resulted in pulmonary hypertension, respiratory failure and gastrointestinal obstruction refractory to chemotherapy and unamenable to surgical resection. Despite the presence of numerous highly invasive myofibromas, multiple imaging modalities largely underestimated, or even missed, tumors found at autopsy. This case demonstrates the limitations of radiographic imaging to assess disease burden in multicentric infantile myofibromatosis. The postmortem findings of extensive disease far exceeding what was demonstrated by multiple imaging modalities suggests that pediatricians should have a high index of suspicion for undetected tumors if clinical deterioration is otherwise unexplained.
PubMed: 33014229
DOI: 10.1016/j.radcr.2020.09.029 -
Seminars in Ultrasound, CT, and MR Oct 2020There is a broad spectrum of soft-tissue masses in children that can be challenging to diagnose clinically and on imaging. This article reviews the typical clinical and... (Review)
Review
There is a broad spectrum of soft-tissue masses in children that can be challenging to diagnose clinically and on imaging. This article reviews the typical clinical and imaging findings of the most common and relevant benign, intermediate and malignant pediatric soft-tissue tumors in the following categories of the 2013 World Health Organization (WHO) classification: adipocytic tumors (lipoma, lipoblastoma, and liposarcoma), fibroblastic/myofibroblastic tumors (nodular fasciitis, myositis ossificans, fibrous hamartoma of infancy, fibromatosis colli, desmoid-type fibromatosis, lipofibromatosis, and infantile fibrosarcoma), pericytic tumors (myofibroma/myofibromatosis), skeletal muscle tumor (rhabdomyosarcoma), nerve sheath tumors (neurofibroma, malignant peripheral nerve sheath tumor), and uncertain differentiation (synovial sarcoma). In general, ultrasound and magnetic resonance imaging are used as first- and second-line imaging modalities, with limited roles for plain radiographs, computed tomography, and fluorodeoxyglucose-positron emission tomography. Many of these tumors have nonspecific imaging findings although there are some key imaging clues that in conjunction with the clinical information allow a specific diagnosis or a narrow differential diagnosis. However, in many instances, histology is required for final diagnosis.
Topics: Adolescent; Child; Child, Preschool; Diagnostic Imaging; Female; Humans; Infant; Infant, Newborn; Male; Soft Tissue Neoplasms
PubMed: 32980096
DOI: 10.1053/j.sult.2020.05.014 -
Pediatric Blood & Cancer Jan 2021
Topics: Adult; Antineoplastic Combined Chemotherapy Protocols; Female; Humans; Imatinib Mesylate; Infant, Newborn; Male; Methotrexate; Myofibromatosis; Prognosis; Vinblastine
PubMed: 32896962
DOI: 10.1002/pbc.28576 -
Familial Cancer Oct 2021Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue...
Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting in life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and is linked to PDGFRB germline variants. Somatic PDGFRB variants were also detected in solitary and multifocal IM lesions. PDGFRB variants associated with IM constitutively activate PDGFRB kinase activity in the absence of its ligand. Germline variants have lower activating capabilities than somatic variants and, thus, require a second cis-acting hit for full receptor activation. Typically, these mutant receptors remain sensitive to tyrosine kinase inhibitors such as imatinib. The SIOPE Host Genome Working Group, consisting of pediatric oncologists, clinical geneticists and scientists, met in January 2020 to discuss recommendations for genetic testing and surveillance for patients who are diagnosed with IM or have a family history of IM/PDGFRB germline variants. This report provides a brief review of the clinical manifestations and genetics of IM and summarizes our interdisciplinary recommendations.
Topics: Child; Child, Preschool; Genetic Testing; Humans; Imatinib Mesylate; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta
PubMed: 32888134
DOI: 10.1007/s10689-020-00204-2 -
BMC Medical Imaging Aug 2020The aim of this study was to characterize the radiological features of myofibroma on multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI) and...
BACKGROUND
The aim of this study was to characterize the radiological features of myofibroma on multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI) and correlate the imaging findings with pathologic features.
METHODS
The radiological findings of 24 patients with 29 myofibromas were retrospectively reviewed. All images were evaluated with emphasis on density, signal intensity, hypointense area, and enhancement, correlating these with pathologic findings.
RESULTS
On plain MDCT scan, 4(26.7%) tumors were homogeneous isodensity, 4(26.7%) tumors were heterogeneous hyperdensity, and 7(46.7%) tumors were heterogeneous hypodensity. On contrast-enhanced MDCT scan, all tumors (9/9) showed heterogeneous enhancement with moderate in 3(33.3%) and marked in 6(66.7%) tumors, and their enhancements were higher compared to adjacent skeletal muscle (P = 0.0001). On MRI, heterogeneous slight hyperintensity, homogeneous slight hyperintensity, and heterogeneous hypointensity on T1-weighted imaging (T1WI) were observed in 14(82.3%), 1(5.9%) and 2(11.8%) tumors, respectively. On T2-weighted imaging (T2WI) and fat-suppressed (FS) T2WI, all tumors demonstrated heterogeneous hyperintensity. All tumors showed heterogeneous marked enhancement on FS contrast-enhanced T1WI. On T1WI, T2WI, FS T2WI, and FS contrast-enhanced T1WI, irregular strip or/and patchy hypointensities were found in 16(94.1%), 12(100%), 17(100%) and 17(100%) tumors, respectively, and pseudocapsule was seen in 5(29.4%) tumors. The hypointensities and pseudocapsule on MRI were exactly corresponding to pathological interlacing collagen fibers and fibrosis. The age of the recurrent group was lower than that of the non-recurrent group (P = 0.001) and the tumors without pseudocapsule were more likely to recur than those with pseudocapsule (P = 0.034).
CONCLUSION
Myofibromas are characterized by heterogeneous density or signal intensity, with moderate or marked enhancement. The hypointensities and pseudocapsule on MRI may be helpful in diagnosis, and the absence of pseudocapsule and younger age may be risk factors for tumor recurrence.
Topics: Adolescent; Adult; Age Factors; Child; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Multidetector Computed Tomography; Myofibroma; Myofibromatosis; Retrospective Studies; Young Adult
PubMed: 32847537
DOI: 10.1186/s12880-020-00498-9 -
Pediatric Blood & Cancer Nov 2020
Topics: Diagnosis, Differential; Humans; Myofibroma; Myofibromatosis; Skin Neoplasms
PubMed: 32798246
DOI: 10.1002/pbc.28669 -
Pediatric Blood & Cancer Nov 2020
Topics: Diagnosis, Differential; Humans; Myofibroma; Myofibromatosis; Skin Neoplasms
PubMed: 32735363
DOI: 10.1002/pbc.28637