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Dermatology Online Journal Apr 2017Infantile myofibromatosis is a rare disorder of fibroblastic/myofibroblastic proliferation and represents the most frequent type of mesenchymal tumor in the neonatal...
Infantile myofibromatosis is a rare disorder of fibroblastic/myofibroblastic proliferation and represents the most frequent type of mesenchymal tumor in the neonatal period and primary infancy.Three clinical types have been described: solitary, multicentric, and generalized (with visceral involvement). A correct characterization of the histopathology is essential to diagnose these neoplasias in early infancy. We present a case of multicentric infantile myofibromatosis with regression over time.
Topics: Female; Humans; Infant; Myofibromatosis; Neoplasm Regression, Spontaneous
PubMed: 28541875
DOI: No ID Found -
Acta Dermato-venereologica Jul 2017
Topics: Biopsy; DNA Mutational Analysis; Genetic Markers; Genetic Predisposition to Disease; Heredity; Heterozygote; Humans; Infant, Newborn; Male; Mutation; Myofibromatosis; Pedigree; Phenotype; Receptor, Platelet-Derived Growth Factor beta
PubMed: 28417142
DOI: 10.2340/00015555-2671 -
Molecular and Clinical Oncology Apr 2017Myofibromatosis is an uncommon disorder of infancy, characterized by proliferation of myofibroblasts in solitary or multiple nodules. The clinical characteristics depend...
Myofibromatosis is an uncommon disorder of infancy, characterized by proliferation of myofibroblasts in solitary or multiple nodules. The clinical characteristics depend on the involved sites: Myofibromatosis may develop as a musculoskeletal form, with non-painful swellings and eventual mass effect symptoms, or as a generalized form with visceral involvement and organ failure. Prognosis and therapy vary between the abovementioned patterns. When there is no visceral involvement, the tumors may regress spontaneously; however, the visceral form may represent a lifethreatening condition with poor outcome and it requires aggressive management. Imaging assessment of disease spread is mandatory to determine diagnosis, prognosis and therapy. Due to the young age of the patients, a radiation-free evaluation is recommended. We herein describe a case of musculoskeletal myofibromatosis diagnosed in a 3-month-old male infant, investigated by serial wholebody magnetic resonance imaging (MRI) examination. The histological analysis and MRI characteristics enabled a correct diagnosis and organ involvement assessment with no radiation exposure. Moreover, whole-body MRI sequences provided a detailed evaluation of the disease within a short time frame, reducing the time of sedation, which is required to perform MRI in very young patients. Therefore, whole-body MRI was found to be accurate and safe in the diagnosis and follow-up of multicentric infantile myofibromatosis.
PubMed: 28413672
DOI: 10.3892/mco.2017.1171 -
BMC Cancer Feb 2017Infantile myofibromatosis belongs to a family of soft tissue tumors. The majority of these tumors have benign behavior but resistant and malignant courses are known,...
Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.
BACKGROUND
Infantile myofibromatosis belongs to a family of soft tissue tumors. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. The standard of care is surgical resection. Observations suggest that low dose chemotherapy is beneficial. The treatment of resistant or relapsed patients with multifocal disease remains challenging. Patients that harbor an actionable mutation in the kinase domain are potential subjects for targeted tyrosine kinase inhibitor therapy.
CASE PRESENTATION
An infant boy with inborn generalized infantile myofibromatosis that included bone, intracranial, soft tissue and visceral involvement was treated according to recent recommendations with low dose chemotherapy. The presence of a partial but temporary response led to a second line of treatment with six cycles of chemotherapy, which achieved a partial response again but was followed by severe toxicity. The generalized progression of the disease was observed later. Genetic analyses were performed and revealed a PDGFRB gene c.1681C>A missense heterozygous germline mutation, high PDGFRβ phosphokinase activity within the tumor and the heterozygous germline Slavic Nijmegen breakage syndrome 657del5 mutation in the NBN gene. Targeted treatment with sunitinib, the PDGFRβ inhibitor, plus low dose vinblastine led to an unexpected and durable response without toxicities or limitations to daily life activities. The presence of the Slavic NBN gene mutation limited standard chemotherapy dosing due to severe toxicities. Sister of the patient suffred from skull base tumor with same genotype and histology. The same targeted therapy led to similar quick and durable response.
CONCLUSION
Progressive and resistant incurable infantile myofibromatosis can be successfully treated with the new approach described herein. Detailed insights into the biology of the patient's tumor and genome are necessary to understand the mechanisms of activity of less toxic and effective drugs except for up to date population-based chemotherapy regimens.
Topics: Antineoplastic Combined Chemotherapy Protocols; Drug Resistance, Neoplasm; Family Health; Female; Germ-Line Mutation; Heterozygote; Humans; Indoles; Infant, Newborn; Male; Molecular Targeted Therapy; Myofibromatosis; Pyrroles; Receptor, Platelet-Derived Growth Factor beta; Sunitinib; Treatment Outcome; Vinblastine
PubMed: 28183292
DOI: 10.1186/s12885-017-3115-x -
Journal of Cytology 2017Myofibromatosis (MFS) was recognized as a distinct form of childhood fibromatosis. Infantile myofibromatosis (IMF) is now identified as a solitary or multicentric tumor...
Myofibromatosis (MFS) was recognized as a distinct form of childhood fibromatosis. Infantile myofibromatosis (IMF) is now identified as a solitary or multicentric tumor that predominantly occurs in neonates and infants. The adult counterpart of IMF, though of rare occurrence, is identified and is known as MFS. Morphological diagnosis of MFS is made by histopathological examination of the biopsy or surgically excised mass and confirmed on the basis of specific immunoprofile. We report a case of multicentric MFS occurring in an adolescent in whom diagnosis was suggested on the basis of fine needle aspiration cytology (FNAC) that avoided surgical excision of multiple nodules. The diagnosis was later confirmed on histopathological study and contributory immunohistochemical markers. Details of the clinical features and cytological diagnosis of the case are provided to diminish the paucity of available literature on FNAC diagnosis of the rare disease.
PubMed: 28182064
DOI: 10.4103/0970-9371.197621 -
European Journal of Pediatric Surgery... Dec 2016Infantile soft tissue tumors of the head are very rare and the majority of them are myofibromas. The authors present the case of a 1-day-old boy with a scalp tumor with...
Infantile soft tissue tumors of the head are very rare and the majority of them are myofibromas. The authors present the case of a 1-day-old boy with a scalp tumor with several distinct histopathological features including myofibroma, hemangiopericytoma, and fibrosarcoma consistent with the diagnosis of composite infantile myofibromatosis. Genetic testing was negative for trisomy 17, translocation (12; 15), FUS, and ETV6 translocations. Despite the ominous histopathological features, the clinical course was benign. The authors review here available literature concerning current concepts of making the diagnosis of composite infantile myofibromatosis and discuss treatment options.
PubMed: 28018804
DOI: 10.1055/s-0036-1580704 -
Indian Journal of Cancer 2015
Topics: Female; Humans; Infant; Myofibromatosis
PubMed: 26905167
DOI: 10.4103/0019-509X.176725 -
Journal of Medical Case Reports Nov 2015We report what we believe to be the first case of a child affected by two rare vascular diseases complicated by kidney failure and successfully treated by kidney...
INTRODUCTION
We report what we believe to be the first case of a child affected by two rare vascular diseases complicated by kidney failure and successfully treated by kidney transplantation.
CASE PRESENTATION
A 3-year-old Caucasian girl with fibromuscular dysplasia and infantile myofibromatosis presented with arterial hypertension and renal failure. She received a deceased donor kidney transplantation distal to an iliac graft. The technical peculiarities of this transplantation are described, as well as her favorable long-term outcome.
CONCLUSION
Kidney transplantation may be considered in a patient with vascular diseases and a history of iliac surgery.
Topics: Child; Child, Preschool; Female; Fibromuscular Dysplasia; Humans; Hypertension, Renovascular; Kidney; Kidney Transplantation; Myofibromatosis; Radiography; Renal Insufficiency
PubMed: 26603035
DOI: 10.1186/s13256-015-0756-8 -
Hand (New York, N.Y.) Sep 2015Myofibroma is a rare benign neoplasm of myofibroblastic origin. It typically occurs in the skin and subcutaneous tissues of the head and neck in infants and young...
Myofibroma is a rare benign neoplasm of myofibroblastic origin. It typically occurs in the skin and subcutaneous tissues of the head and neck in infants and young children as multicentric lesions known as infantile myofibromatosis. Intraosseous myofibromas are very rare and are typically destructive lesions that predominantly affect craniofacial bones in the setting of myofibromatosis. Solitary, intraosseous myofibromas in adults are exceedingly rare. Herein, we report a myofibroma involving the middle phalanx of the right index finger in a 58-year-old man who presented with a pathologic fracture. Twelve other cases of adult-onset, intraosseous myofibroma were compiled from the English language literature and integrated with this report.
PubMed: 26330794
DOI: 10.1007/s11552-014-9729-4 -
American Journal of Human Genetics Sep 2015Penttinen syndrome is a distinctive disorder characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic...
Penttinen syndrome is a distinctive disorder characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acro-osteolysis. All individuals have been simplex cases. Exome sequencing of an affected individual identified a de novo c.1994T>C p.Val665Ala variant in PDGFRB, which encodes the platelet-derived growth factor receptor β. Three additional unrelated individuals with this condition were shown to have the identical variant in PDGFRB. Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, idiopathic basal ganglia calcification, and an overgrowth disorder with dysmorphic facies and psychosis, none of which overlaps with the clinical findings in Penttinen syndrome. We evaluated the functional consequence of this causative variant on the PDGFRB signaling pathway by transfecting mutant and wild-type cDNA into HeLa cells, and transfection showed ligand-independent constitutive signaling through STAT3 and PLCγ. Penttinen syndrome is a clinically distinct genetic condition caused by a PDGFRB gain-of-function mutation that is associated with a specific and unusual perturbation of receptor function.
Topics: Acro-Osteolysis; DNA, Complementary; Female; Genes, Dominant; HeLa Cells; Humans; Limb Deformities, Congenital; Male; Mutation, Missense; Phosphorylation; Point Mutation; Progeria; Receptor, Platelet-Derived Growth Factor beta; Signal Transduction; Time Factors
PubMed: 26279204
DOI: 10.1016/j.ajhg.2015.07.009