-
Cytopathology : Official Journal of the... Mar 2020Fibroblastic/myofibroblastic tumors constitute 12% of all pediatric soft tissue tumors with the majority of them belonging to the benign and intermediate prognostic...
INTRODUCTION
Fibroblastic/myofibroblastic tumors constitute 12% of all pediatric soft tissue tumors with the majority of them belonging to the benign and intermediate prognostic categories. They are often misdiagnosed owing to their variable clinical presentation and unusual microscopic features. The diagnosis, specially cytological diagnosis of benign and intermediate categories is difficult due to paucity of cellular component and increased amount of extracellular matrix as compared to malignant ones. We hereby discuss the Fine needle aspiration cytology (FNAC) findings of non-malignant fibroblastic/myofibroblastic lesion in the pediatric age group encountered at our institute.
METHODS
All the benign and intermediate fibroblastic/myofibroblastic/fibroadipocytic lesions (age 0-12 years) diagnosed on FNAC over a period of 3½ years (Jan 2016- July 2019), with availability of corresponding histopathology were included in the study.
RESULTS
A total of seven pediatric benign and intermediate fibroblastic/myofibroblastic lesions with histopathological confirmation were identified which included Infantile digital fibromatosis (IDF) (n = 2), Lipofibromatosis (n = 1), Fibrous hamartoma of infancy (FHI) (n = 1), Fibromatosis colli (FC) (n = 2) and myofibroma/myofibromatosis (n = 1). FNAC smears were mainly paucicellular with presence of benign spindle shaped cells in a collagenous stroma common to almost all the cases. A few additional findings such as degenerated skeletal muscle fibres, muscle giant cells and mature adipose tissue were also present in some cases.
CONCLUSION
Fibroblastic/myofibroblastic tumors although uncommon, form an important category that must be considered in the differential diagnosis of pediatric soft tissue tumors. FNAC cytology features when assessed in a proper clinical setting (specially the age and site of presentation) are helpful in suggesting probable preoperative diagnosis in these lesions.
Topics: Child; Child, Preschool; Diagnosis, Differential; Female; Fibroma; Granuloma, Plasma Cell; Humans; Infant, Newborn; Leiomyoma; Male; Neoplasms, Muscle Tissue; Pediatrics; Prognosis; Soft Tissue Neoplasms
PubMed: 32034815
DOI: 10.1111/cyt.12786 -
International Journal of Clinical and... 2019To describe a rare case of aggressive fibromatosis of the stomach and discuss the differential diagnoses.
OBJECTIVES
To describe a rare case of aggressive fibromatosis of the stomach and discuss the differential diagnoses.
METHODS
A 47-year-old man presented with nonspecific abdominal pain. Gastroscopy revealed stomach wall swelling. An antral gastrectomy was performed. Histological examination revealed spindle-shaped cells and morphology typical of aggressive fibromatosis. We performed a literature search to identify conditions with features similar to those of aggressive fibromatosis.
RESULTS
Aggressive fibromatosis does not metastasize, but it is locally invasive and has a tendency to relapse; however, our patient has not had recurrence > 1 year after surgery. Aggressive fibromatosis of the stomach may be confused with an inflammatory fibroid polyp, a gastrointestinal stromal tumor, schwannoma, leiomyoma, inflammatory myofibroblastic tumor, scirrhous carcinoma of the stomach, follicular dendritic cell sarcoma, inflammatory malignant fibrous histiocytoma, myofibroma/myofibromatosis, and solitary fibrous tumor of the stomach.
CONCLUSIONS
Aggressive fibromatosis of the stomach is a rare spindle cell tumor that must be differentiated from a variety of conditions.
PubMed: 31933754
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... Nov 2020
Topics: Diagnosis, Differential; Diagnostic Imaging; Female; Humans; Myofibromatosis; Pregnancy
PubMed: 31909539
DOI: 10.1002/uog.21964 -
Journal of Pediatric Hematology/oncology Nov 2020Infantile myofibromatiosis (IM) is a rare benign tumor in the infants, but it has a bad prognosis if IM erncroaches on the viscera. Multiple tissues can be invaded by... (Review)
Review
BACKGROUND
Infantile myofibromatiosis (IM) is a rare benign tumor in the infants, but it has a bad prognosis if IM erncroaches on the viscera. Multiple tissues can be invaded by IM, including the subcutaneous tissue, the muscle of the neck, back, and head, but seldom in the bones and the viscera. The histopathologic and immunohistochemical examinations are necessary in daigonosis of IM as it might be misdiagnosed as the malignant tumor.
MATERIALS AND METHOD
Thirty-two consecutive patients with IM in our hospital (2003-2013) were enrolled and the clinical date were analyzed to understand IM better, such as the feature of clinical manifestations, pathology, imaging tests, and treatment.
RESULTS
All of them underwent excision operations, 4 of them with invasion in the bones, 2 with invasion in the craniums, and the rest in the ulna and the humerus. The immunohistiochemical analysis shown that the tumor cells were positive to vimentin and smooth muscle actin while negative to the S100 protein and desmin. Twenty-five patients were in follow-up, 2 cases recurred.
CONCLUSIONS
IM is a benign tumor, but IM with the viscera involvement has a bad prognosis. The strategy of waiting and observation for IM without visceral involvement could be selected.
Topics: Adolescent; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Infant; Infant, Newborn; Male; Myofibromatosis
PubMed: 31764512
DOI: 10.1097/MPH.0000000000001603 -
Fetal and Pediatric Pathology Apr 2021Myofibromatosis is a distinctive mesenchymal disorder occurring predominantly in childhood, which on microscopy shows peripheral light areas of spindle cells and central...
INTRODUCTION
Myofibromatosis is a distinctive mesenchymal disorder occurring predominantly in childhood, which on microscopy shows peripheral light areas of spindle cells and central cellular areas of primitive oval to spindle cells arranged around hemagiopercytomatous vessels. PDFGRB mutations in the familial and multifocal sporadic forms and fusions in the cellular variants have been identified. The index case is being presented to discuss the clinico-pathological features, differential diagnosis, and management of the lesion.
CASE PRESENTATION
An 11-year-old male presented with an infraorbital mass of 3 months duration. The mass was excised and microscopy revealed the morphological features of myofibroma with tram-track SMA immunopositivity. Nodular fasciitis and fibromatosis were the differentials considered.
CONCLUSION
The gene fusion may represent a subset that in the future may be used to differentiate these myofibromas/myopericytomas from the fusion myopericytomas, and may be used to perhaps separate out familial myofibromas from other myofibromas.
Topics: Child; Diagnosis, Differential; Humans; Male; Mutation; Myofibroma; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta
PubMed: 31738635
DOI: 10.1080/15513815.2019.1686785 -
World Neurosurgery Apr 2020Infantile myofibromatosis is a rare benign disease of mesenchymal origin. It occurs mostly in infants but can occur in children and adults. It presents in 2 forms:...
BACKGROUND
Infantile myofibromatosis is a rare benign disease of mesenchymal origin. It occurs mostly in infants but can occur in children and adults. It presents in 2 forms: solitary and multicentric. The presence of an orbital component, whether as a solitary lesion or as part of the multicentric disease, is even rarer. Surgery is required when these tumors behave aggressively and grow rapidly or when they are large enough to cause compression symptoms. Several surgical approaches have been described to resect such lesions.
CASE DESCRIPTION
We present a case of a solitary intraorbital myofibroma extending into the optic canal in a 6-year-old girl that was completely resected via an extended endonasal endoscopic approach.
CONCLUSIONS
This case report highlights the advantages of the extended endonasal endoscopic approach in terms of intraoperative and postoperative factors.
Topics: Child; Diagnosis, Differential; Endoscopy; Female; Humans; Magnetic Resonance Imaging; Myofibroma; Nasal Cavity; Neurosurgical Procedures; Orbital Neoplasms; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 31678317
DOI: 10.1016/j.wneu.2019.10.149 -
Auris, Nasus, Larynx Dec 2020Infantile myofibromatosis is a rare condition characterized by benign spindle cell tumors most commonly involving the head, neck, and chest. An infant female with a...
Infantile myofibromatosis is a rare condition characterized by benign spindle cell tumors most commonly involving the head, neck, and chest. An infant female with a prenatal diagnosis of a large facial mass was delivered via Cesarean at 34 weeks. Sparse prenatal care was received. Following delivery, the neonate was found to have an 8 cm ulcerative mass involving the upper lip and philtrum. Respiratory distress developed, and mask ventilation was difficult secondary to the size of the mass. The patient was successfully intubated after numerous attempts and then transferred to the children's hospital. Additional imaging demonstrated similar masses within bilateral iliopsoas and gluteal muscles, and her right gastrocnemius. A biopsy confirmed infantile myofibromatosis. At two weeks of life, she underwent resection with bilateral myocutaneous advancement flaps and successful extubation. She received adjuvant vinblastine and methotrexate for her pelvic and extremity disease with excellent response. We present the first case of airway distress secondary to myocutaneous myofibromatosis.
Topics: Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Myofibromatosis; Nasal Obstruction; Respiratory Insufficiency
PubMed: 31677854
DOI: 10.1016/j.anl.2019.10.005 -
Obstetrical & Gynecological Survey Oct 2019Infantile myofibromatosis (IM) is a benign neoplasm with a reported incidence of 1:150,000. The "solitary" type is characterized by a single lesion in the skin, muscle,... (Review)
Review
IMPORTANCE
Infantile myofibromatosis (IM) is a benign neoplasm with a reported incidence of 1:150,000. The "solitary" type is characterized by a single lesion in the skin, muscle, or bone, whereas the "multicentric" type may also involve the viscera.
OBJECTIVE
This report describes the prenatal diagnosis of IM and recommendations for future pregnancy follow-up.
EVIDENCE ACQUISITION
This systematic search of the English literature yielded 8 reports documenting prenatal diagnosis of IM between 1999 and 2018.
RESULTS
Fetal age at diagnosis ranged from 13 to 38 weeks of gestation. Seven cases were diagnosed in the third trimester (30-34 weeks). Five cases were of the "solitary" type, and all successfully underwent surgical removal of the tumor with a good outcome. Three were of the "multicentric" type, and the 1 infant presenting with diffuse disease died several weeks after delivery.
CONCLUSION AND RELEVANCE
The prenatal diagnosis of IM is often not made until the third trimester following a normal second-trimester anomaly scan, likely due to development of this lesion over time. Women should be referred for genetic counseling and consideration of preimplantation genetic diagnosis following the delivery of an affected child with the autosomal recessive form of the disorder and identified causative pathogenic variants.
Topics: Female; Fetal Diseases; Gestational Age; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Myofibromatosis; Pregnancy; Ultrasonography, Prenatal
PubMed: 31670833
DOI: 10.1097/OGX.0000000000000717 -
Cold Spring Harbor Molecular Case... Oct 2019Infantile myofibromatosis (IM) is an aggressive neoplasm composed of myofibroblast-like cells in children. Although typically localized, it can also present as...
Infantile myofibromatosis (IM) is an aggressive neoplasm composed of myofibroblast-like cells in children. Although typically localized, it can also present as multifocal disease, which represents a challenge for effective treatment. IM has previously been linked to activating somatic and germline point mutations in the PDGFRβ tyrosine kinase encoded by the gene. Clinical panel-based targeted tumor sequencing of a tumor from a newborn with multifocal IM revealed a novel rearrangement, which was reported as being of unclear significance. Additional sequencing of cDNA from tumor and germline DNA confirmed a complex somatic/mosaic rearrangement with an apparent partial tandem duplication disrupting the juxtamembrane domain. Ectopic expression of cDNA encoding the mutant form of PDGFRB markedly enhanced cell proliferation of mouse embryo fibroblasts (MEFs) compared to wild-type PDGFRB and conferred tumor-forming capacity on nontumorigenic 10T1/2 fibroblasts. The mutated protein enhanced MAPK activation and retained sensitivity to the PDGFRβ inhibitor imatinib. Our findings reveal a new mechanism by which PDGFRB can be activated in IM, suggest that therapy with tyrosine kinase inhibitors including imatinib may be beneficial, and raise the possibility that this receptor tyrosine kinase might be altered in a similar fashion in additional cases that would similarly present annotation challenges in clinical DNA sequencing analysis pipelines.
Topics: Animals; Cell Line; Extracellular Signal-Regulated MAP Kinases; Female; Fibroblasts; Germ-Line Mutation; Humans; Imatinib Mesylate; Infant, Newborn; Mice; Myofibromatosis; Protein Kinase Inhibitors; Receptor, Platelet-Derived Growth Factor beta
PubMed: 31645346
DOI: 10.1101/mcs.a004440 -
American Journal of Medical Genetics.... Sep 2019Heterozygous activating mutations in platelet-derived growth factor receptor B (PDGFRB) have been recently identified as a cause of autosomal-dominant infantile...
Heterozygous activating mutations in platelet-derived growth factor receptor B (PDGFRB) have been recently identified as a cause of autosomal-dominant infantile myofibromatosis. We describe a 36-year-old man with PDGFRB c.1681C>T (p.R561C) mutation. Upon progressive disease, the patient received treatment with imatinib and showed a remarkable response with remission of multiple lesions after 12 months. This is the first report of an adult patient with PDGFRB c.1681C>T mutation treated with imatinib.
Topics: Adult; Disease Progression; Genetic Predisposition to Disease; Heterozygote; Humans; Imatinib Mesylate; Male; Mutation; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta
PubMed: 31291054
DOI: 10.1002/ajmg.a.61283