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Asian Journal of Surgery Jan 2022
Topics: Diagnostic Imaging; Humans; Leiomyoma; Magnetic Resonance Imaging; Myofibroma; Myofibromatosis
PubMed: 34848146
DOI: 10.1016/j.asjsur.2021.10.024 -
American Journal of Medical Genetics.... Mar 2022Neurofibromatosis type 1 (NF1) is a common neurocutaneous disorder characterized by development of pigmentary skin changes, neurogenic tumors, and other manifestations...
Neurofibromatosis type 1 (NF1) is a common neurocutaneous disorder characterized by development of pigmentary skin changes, neurogenic tumors, and other manifestations involving multiple organ systems. Penetrance is complete, though expressivity is quite variable even among the family members. Given that NF1 is a common hereditary condition, existence of a second genetic disorder in NF1 patients is not unexpected. During comprehensive evaluations of individuals with NF1, we encountered 11 patients with dual diagnosis who contributed to phenotypic complexity and challenges for long-term management. Examples include Prader-Willi Syndrome, Autosomal Dominant Polycystic Kidney Disease, Down syndrome, infantile myofibromatosis, Craniosynostosis, cleft lip and palate, 47,XYY, 22q11.2 duplication, 15q13.3 deletion syndrome, and BRCA2- and ATM- related cancer predisposition syndromes. Presence of dysmorphism, developmental delay, atypical tumors, and family history of other genetic disorders including cancers appears as determinants to consider a second genetic etiology and helps to differentiate from an extreme phenotypic spectrum of NF1. Clinicians should have high index of suspicion to exclude coexisting disorders, as apart from providing comprehensive medical care. This also has potential implications in genetic counseling. Long-term effects of the synergistic mechanisms leading to phenotypic complexity and patient outcomes are yet to be characterized, with follow-up needed.
Topics: Chromosome Deletion; Cleft Lip; Cleft Palate; Humans; Intellectual Disability; Neurofibromatosis 1
PubMed: 34797032
DOI: 10.1002/ajmg.a.62575 -
Pediatric Blood & Cancer Mar 2022Infantile myofibromatosis (IM) is a rare benign soft tissue tumor and often a self-limiting disease but rarely includes life-threatening complications. Little is known...
Infantile myofibromatosis: Excellent prognosis but also rare fatal progressive disease. Treatment results of five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry.
BACKGROUND
Infantile myofibromatosis (IM) is a rare benign soft tissue tumor and often a self-limiting disease but rarely includes life-threatening complications. Little is known about optimal treatment of primary localized (LD) and multifocal disease (MFD).
METHODS
Treatment and outcome of 95 children with IM registered within five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry (1981-2016) were evaluated.
RESULTS
LD was diagnosed in 71 patients at a median age of 0.4 years (range 0.0-17.7). MFD was present in 24 patients. The mainstay of treatment was watch-and-wait strategy (w&w) after initial biopsy or resection. Low-dose chemotherapy (CHT) was administered to 16/71 (23%) patients with LD and eight of 24 (33%) patients with MFD, imatinib was added in two. A delayed resection was possible in eight of 71 (11%) and five of 24 (21%) patients with LD and MFD, respectively. Overall, patients were alive in complete remission (n = 77) and partial remission (n = 10) at a median follow-up time of 3.4 years after diagnosis (range 0.01-19.4); no data available (n = 5). Three patients died of progressive disease (PD) despite CHT. Gender, tumor size, and location correlated with a favorable event-free survival (EFS) in patients with LD. The 5-year EFS and overall survival of patients with LD were 73% (±12, confidence interval [CI] 95%) and 95% (±6, CI 95%), respectively; for MFD 51% (±22, CI 95%) and 95% (±10, CI 95%).
CONCLUSION
Prognosis is excellent in patients with LD and MFD. Targeted treatment needs to be evaluated for rare fatal PD.
Topics: Adolescent; Child; Child, Preschool; Follow-Up Studies; Humans; Infant; Infant, Newborn; Myofibromatosis; Prognosis; Registries; Treatment Outcome
PubMed: 34636137
DOI: 10.1002/pbc.29403 -
Journal of Pediatric Hematology/oncology Apr 2022We report the case of an infant with multicentric myofibromatosis affecting the gastric and intestinal mucosa, leading to continuous intestinal hemorrhage and iron...
We report the case of an infant with multicentric myofibromatosis affecting the gastric and intestinal mucosa, leading to continuous intestinal hemorrhage and iron deficiency. Conventional vinblastine and methotrexate combination treatment was administered for 4 months, but persistent intestinal blood loss required repeated blood transfusions. Because of insufficient tumor response to treatment, we opted for the experimental combination of rapamycin and dasatinib. Six weeks after the start of this therapy, hemoglobin levels stabilized without transfusions, and no fecal blood loss was detected. In addition, a follow-up magnetic resonance imaging excluded tumor progression. We here show the effectiveness of an experimental therapy with rapamycin and dasatinib in a child with multicentric myofibromatosis after the failure of conventional therapy with vinblastine and methotrexate.
Topics: Child; Dasatinib; Humans; Infant; Methotrexate; Myofibromatosis; Sirolimus; Vinblastine
PubMed: 34486566
DOI: 10.1097/MPH.0000000000002324 -
Dermatopathology (Basel, Switzerland) Aug 2021Multiple papulonodular skin lesions at birth can indicate the presence of various benign and malignant disorders. Although the lesions' clinical aspect (color and...
Multiple papulonodular skin lesions at birth can indicate the presence of various benign and malignant disorders. Although the lesions' clinical aspect (color and consistency, in particular) may steer the clinician towards one disorder or another (infantile myofibromatosis, xanthogranuloma, or metastatic neuroblastoma), the diagnosis can only be confirmed by the histopathologic assessment of a biopsy. In neonates, a rapid but accurate diagnosis is critical because skin lesions may be the first manifestation of a malignant disorder like leukemia cutis or metastatic neuroblastoma. Here, we review the various disorders that may manifest themselves as multiple skin lesions at birth.
PubMed: 34449594
DOI: 10.3390/dermatopathology8030043 -
Journal of Comparative Pathology Jul 2021A 2-day-old female piglet was submitted with multiple congenital, nodular skin masses located on the head, neck, trunk and legs. Histopathological examination revealed...
A 2-day-old female piglet was submitted with multiple congenital, nodular skin masses located on the head, neck, trunk and legs. Histopathological examination revealed the presence of nodular, cutaneous tumours with a biphasic growth pattern and comprising a population of undifferentiated, oval or slightly polygonal, frequently perivascularly located cells and a population of spindle-shaped, fibroblast-like cells arranged in bundles. Multifocally, tumour cells infiltrated subcutaneous adipose and muscular tissue. Immunohistochemically, the undifferentiated tumour cells expressed vimentin and calponin, whereas the spindle-shaped tumour cells were positive for vimentin, α-smooth muscle actin and calponin. Based on these findings, the diagnosis was myofibroblastic tumours closely resembling the multicentric form of human infantile myofibromatosis.
Topics: Animals; Animals, Newborn; Female; Fibroblasts; Myofibromatosis; Skin Neoplasms; Swine; Swine Diseases; Vimentin
PubMed: 34340799
DOI: 10.1016/j.jcpa.2021.04.012 -
Journal of Dentistry For Children... May 2021A myofibroma is a relatively rare neoplasm characterized by its spindle cell proliferation. This lesion can present as a unifocal mass (myofibroma) or multifocal growths...
A myofibroma is a relatively rare neoplasm characterized by its spindle cell proliferation. This lesion can present as a unifocal mass (myofibroma) or multifocal growths (myofibromatosis) in the skin, soft tissue, bone, or internal organs. In the oral cavity, the tumor is commonly identified on the tongue, mucosa, lips, and mandible. Myofibroma classically occurs in infants and young children. Its fast-growing nature often mimics a sarcoma; however, it is a benign tumor. The purpose of this article is to report the case of an eight-year-old boy who presented with a localized, painless, nodular mass in the palate and gingiva. Through clinical, radiological, and immunohistochemical evaluation, the diagnosis of an atypical myofibroblastic tumor was made after resection of the mass. With interprofessional team management, the patient's quality of life was improved.
Topics: Child; Child, Preschool; Diagnosis, Differential; Humans; Infant; Lip; Male; Mouth Neoplasms; Myofibroma; Myofibromatosis; Quality of Life
PubMed: 34321145
DOI: No ID Found -
Child's Nervous System : ChNS :... Apr 2022Infantile myofibromatosis is a rare and nonmalignant pediatric tumor of myofibroblastic origin that may occur in solitary or multifocal forms. Soft tissue of the head...
Infantile myofibromatosis is a rare and nonmalignant pediatric tumor of myofibroblastic origin that may occur in solitary or multifocal forms. Soft tissue of the head and neck, trunk, and extremities, skeleton, and viscera are usually involved. Intracranial involvement is reported to be extremely rare, and its clinical picture has been poorly characterized. We present two cases of giant infantile myofibromatosis of the skull base with intracranial involvement. The first case with prenatal diagnosis involved extensively the extradural space of the occipital region and was previously treated by chemotherapy for a previous diagnosis of hemangioperycitoma. Tumor was removed at the age of 5 months and no recurrence was observed during the 3-year follow-up. The second case in a 2-year-old baby involved the anterior cranial base, the nasal cavity, the right orbit, and presented massive involvement of the anterior cranial fossa. Surgery allowed complete removal and a recurrence-free period of 7 years after surgery. Treatment options for these unusual cases are presented and details of histological diagnosis are discussed.
Topics: Child; Child, Preschool; Head; Humans; Infant; Myofibromatosis; Nasal Cavity; Skull Base
PubMed: 34244845
DOI: 10.1007/s00381-021-05271-z -
Molecular and Cellular Pediatrics Jun 2021Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral...
BACKGROUND
Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral lesions. Germline gain-of-function mutations in PDGFRB have been identified as the most common molecular defect in familial IM.
CASE PRESENTATION
We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy.
CONCLUSIONS
PDGFRB-driven IM is clinically challenging due to its fluctuating course and multiple organ involvement in the first years of life. Early molecular genetic analysis is necessary to consider tyrosine kinase inhibitor treatment in case of aggressive visceral lesions.
PubMed: 34132909
DOI: 10.1186/s40348-021-00117-9 -
BMJ Case Reports May 2021Myofibromas are benign neoplasms of myofibroblastic origin and rarely encountered in the oral cavity. Myofibroma may frequently grow rapidly leading to suspicion of...
Myofibromas are benign neoplasms of myofibroblastic origin and rarely encountered in the oral cavity. Myofibroma may frequently grow rapidly leading to suspicion of malignancy. This may lead to a tendency for aggressive management. The histopathology of this tumour has similarity with other spindle cell tumours and often requires immunohistochemical staining for diagnosis. Here, we present a case of myofibroma in a 15-year-old female patient who reported with an aggressive gingival swelling and discuss the various histopathological differential diagnosis.
Topics: Adolescent; Diagnosis, Differential; Female; Gingiva; Humans; Leiomyoma; Myofibroma; Myofibromatosis
PubMed: 33958368
DOI: 10.1136/bcr-2021-242700