Infantile myofibromas obstructing opposite ends of the gastrointestinal tract

Wilson, Marnie Goodwin; Emil, Sherif; Cowan, Kyle N.; Kalechstein, Sara; Puligandla, Pramod S.; Nguyễn, Văn Hùng; Laberge, Jean-Martin; Chou, Shihning

doi:10.1016/j.jpedsurg.2012.11.041

Cited by 3 publications

(4 citation statements)

References 13 publications

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“…The mother had swelling in the left side of her neck at 7 months of age, which was found to be fibromatosis and subsequently excised. The five simplex cases included in this study were taken from resected myofibromas from children at the following ages and locations: at birth (cheek), 34 days (pelvic myofibroma, reported as case 2 in a previous study 17 ), 13 days (lesion from right hemidiaphragm), 5 days (visceral myofibroma), and 1 month (femur and lung). Matched blood was available in two cases and was also analyzed for PDFGRB mutations.…”

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confidence: 99%

“…Mouse knockout studies showed the critical role of PDGFR-b signaling in the embryonic development of specific subsets of smooth muscle cells, 20,21 particularly in the proper recruitment of vascular smooth muscle cells and pericytes to developing blood vessel walls. [16][17][18][19] Deregulation of PDGF signaling (usually through somatic mutations, overexpression, or fusion with other genes) has been associated with several human disorders and cancers affecting cells of mesenchymal origin (reviewed in Andrae et al, 18 Trojanowska, 22 and George 23 ), and more recently, p.Leu658Pro and p.Arg987Trp PDGFRB germline variants have been associated with idiopathic basal ganglia calcification (MIM 615007). 24 The germline mutation in PDFGRB we identify herein has not been previously reported.…”

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confidence: 99%

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A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

Cheung

Gayden

Campeau

et al. 2013

The American Journal of Human Genetics

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143

126

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Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA sequencing, and targeted sequencing, we investigated germline and tumor DNA in individuals from four distinct families with the familial form of IM and in five simplex IM cases with no previous family history of this disease. We identified a germline mutation c.1681C>T (p.Arg561Cys) in platelet-derived growth factor receptor β (PDGFRB) in all 11 affected individuals with familial IM, although none of the five individuals with nonfamilial IM had mutations in this gene. We further identified a second heterozygous mutation in PDGFRB in two myofibromas from one of the affected familial cases, indicative of a potential second hit in this gene in the tumor. PDGFR-β promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM. Our findings indicate p.Arg561Cys substitution in PDGFR-β as a cause of the dominant form of this disease. They provide a rationale for further investigations of this specific mutation and gene to assess the benefits of targeted therapies against PDGFR-β in aggressive life-threatening familial forms of the disease.

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confidence: 99%

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confidence: 99%

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

Cheung

Gayden

Campeau

et al. 2013

The American Journal of Human Genetics

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143

126

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“…EAC and esophageal squamous cell carcinoma (ESCC) comprise the majority of childhood esophageal malignant neoplasms, however several benign neoplasms have been reported. Esophageal neoplasms in children are summarized in Table 1 (61)(62)(63)(64)(65)(66)(67)(68)(69)(70)(71)(72)(73)(74)(75). Caustic ingestion, tobacco use, and history of esophageal atresia repair are considered risk factors for both EAC and ESCC (61,62).…”

Section: Epidemiology and Clinical Presentationmentioning

confidence: 99%

“…In a case series of fourteen pediatric patients with EAC, 78% of cases were associated with BE, suggesting that, similar to adults, BE is a strong risk factor for the development of EAC (61). The most common presenting symptoms of esophageal carcinomas and other neoplasms in children are progressive dysphagia and weight loss (Table 1) (61)(62)(63)(64)(65)(66)(67)(68)(69)(70)(71)(72)(73)(74)(75). In adults, EAC predominantly develops in the lower one-third of the esophagus.…”

Section: Epidemiology and Clinical Presentationmentioning

confidence: 99%

Eosinophilic esophagitis, Barrett’s esophagus and esophageal neoplasms in the pediatric patient: a narrative review

Medina¹,

Troendle²,

Park³

et al. 2021

Transl Gastroenterol Hepatol

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There are several esophageal disorders that can occur in the pediatric population. Eosinophilic esophagitis (EoE) is an eosinophil predominant inflammatory disease of the esophagus that was first characterized in the early 1900's. EoE is the most common pediatric esophageal inflammatory condition after gastroesophageal reflux disease (GERD). Longstanding GERD is a known risk factor for the development of Barrett's esophagus (BE) in both children and adults. BE is associated with the development of dysplasia and, if left undiagnosed, may progress to the development of esophageal adenocarcinoma (EAC). EAC and esophageal squamous cell carcinoma (ESCC) comprise the majority of childhood esophageal malignant neoplasms. The prevalence of EoE continues to rise within the pediatric population. On the other hand, both BE and esophageal neoplasms remain extremely rare in children. The relationship between a chronic inflammatory condition like EoE to BE and/or esophageal neoplasms remains unclear. The current research of these disease entities is prioritized to further understanding the disease pathogenesis and disease progression, exploring new diagnostic modalities, and developing novel treatments or less invasive therapeutic options. The focus of the following narrative review is to provide a summary of the current clinical practices, future research and their implications on these various esophageal disorders.

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Current World Literature

2013

Current Opinion in Allergy &Amp; Clinical Immunology

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Infantile myofibromas obstructing opposite ends of the gastrointestinal tract

Cited by 3 publications

References 13 publications

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

Eosinophilic esophagitis, Barrett’s esophagus and esophageal neoplasms in the pediatric patient: a narrative review

Current World Literature

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