Growth behavior of plexiform neurofibromas after surgery

Children and adults with Neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a variety of ophthalmologic conditions. Plexiform neurofibromas involving the eyelid, orbit, periorbital and facial structures (termed OPPN) can result in significant visual loss in children. Equally important, OPPNs can cause significant alteration in physical appearance secondary to proptosis, ptosis, and facial disfigurement, leading to social embarrassment and decreased self-esteem. Despite NF1 being a relatively common disease in which routine ophthalmologic examinations are required, no formal recommendations for clinical care of children with OPPNs exist. While medical and surgical interventions have been reported, there are no agreed upon criteria for when OPPN require therapy and which treatment produces the best outcome. Since a multi-disciplinary team of specialists (oculofacial plastics, pediatric ophthalmology, neuro-ophthalmology, medical genetics and neuro-oncology) direct management decisions, the absence of a uniform outcome measure that represents visual and or aesthetic sequelae complicates the design of evidence based studies and feasible clinical trials. In September 2013, a multi-disciplinary task force, composed of pediatric practitioners from tertiary care centers experienced in caring for children with OPPN, was convened to address the lack of clinical care guidelines for children with OPPN. This consensus statement provides recommendations for ophthalmologic monitoring and outlines treatment indications, forthcoming biologic therapy, while also discussing challenges to performing clinical trials in this complicated condition.

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“…Continued PN growth after surgery has been described, particularly in patients with head and neck tumors 39 and in younger patients. 39, 53 …”

Section: Introductionmentioning

confidence: 99%

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1

et al. 2017

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“…Younger patients experienced the highest progression rates, but tumor type, location and depth also defined progression after surgery. Complete tumor resection was feasible in 13 patients and resulted in no recurrence in the mean observation period of 2.9 years (range 1.1-5.8 years) [4] . Prada et al [3] reviewed the records of 154 children with NF1 and plexiform neurofibroma, and noted that patients with symptomatic plexiform neurofibroma had an increased occurrence of other NF1-related tumors.…”

Section: Discussionmentioning

confidence: 99%

“…In the light of above studies [3,4] , our young patient with a symptomatic cervical plexiform neurofibroma has a high risk for recurrence. The complete removal of all microscopic tumor fragments from a location (e.g.…”

Section: Discussionmentioning

confidence: 99%

“…In the study by Nguyen et al [4] , 52 patients with a wide age range (3.2 -64.2 years) and plexiform neurofibroma were analyzed. Sixteen percent of patients had acute surgical complications, while 13 percent had late complications.…”

Section: Discussionmentioning

confidence: 99%

“…Surgical removal is the first line of intervention that, however, can only be partial or subtotal in most cases [1] . Medical maintenance therapy and long term tumor monitoring are essential [2][3][4] . We present a small child with a large cervical plexiform neurofibroma that caused both diagnostic and therapeutic difficulties, and discuss that even after a successful surgical resection of the tumor, long term management of such a case may still involve challenges.…”

Section: Introductionmentioning

confidence: 99%

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Life threatening plexiform neurofibroma of a young child

Bárdi

Masát

Kisely

et al. 2014

CRCP

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Aim: To report a child with an extensive tumor invading multiple anatomical structures within the left side of her neck. Material and methods:Presentation of a case including patient's history, physical exam, molecular data, MRI imaging, histopathology and molecular genetics. Results:The life-threatening compression as well as the dislocation of the trachea required meticulous surgical removal of the tumor. Histology revealed a plexiform neurofibroma related to a frame shift mutation in the NF1 gene. Conclusion:Surgical removal of this extensive tumor saved the patient's life. The long term success of management will be related to the effectiveness of the maintenance therapy that currently includes interferon-α2a. This report highlights unique aspects of a rare but life threatening condition in a young girl.

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Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019

Collins-Sawaragi

Ferner

Vassallo

et al. 2022

American J of Med Genetics Pt A

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We report on the location, symptoms, and management of plexiform neurofibroma (PN) in children with Neurofibromatosis Type 1 (NF1) attending the 2 National Complex Neurofibromatosis 1 Services at Guy's and St. Thomas' NHS Foundation Trust, London and St Mary's Hospital, Manchester. Retrospective data collection was performed from patient chart reviews from April 2018 to April 2019. There were 127 NF1 patients with PN, age range 0.8-17.0, mean age was 9.9 years (SD ± 4.2 years). The main location of the PN was craniofacial in 35%, and limb in 19%. Disfigurement was present in 57%, pain in 28%, impairment of function in 23%,and threat to function in 9% of children. Fifty-four percent of patients were managed conservatively, 28% surgically, and 19% are either taking or due to start a mitogenactivated protein kinase kinase (MEK) inhibitor (selumetinib or trametinib), either through a clinical trial or compassionate usage scheme. This national study provides a comprehensive overview of the management of children with PN in an era where new therapies (MEK inhibitors) are becoming more widely available. We anticipate that there will be a shift to more patients receiving MEK inhibitor therapy and combination therapy (surgery and MEK inhibitor) in the future.

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Growth behavior of plexiform neurofibromas after surgery

Cited by 38 publications

References 17 publications

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1

Life threatening plexiform neurofibroma of a young child

Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019

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