RESUMO
Neurofibromatosis type 1 (NF1) is a genetic condition commonly associated with a predisposition to tumor development. Affected individuals have an increased risk of benign and malignant tumors of the central and peripheral nervous system. Though pediatric patients with NF1 have an increased risk of tumors such as optic gliomas and neurofibromas during childhood, neuroblastic tumors are less often observed in this population. We report a rare case of a 5-year-old female with ganglioneuroblastoma intermixed and known history of NF1 and review the existing literature on the occurrence of ganglioneuroblastoma in pediatric patients with NF1.
Assuntos
Ganglioneuroblastoma , Neurofibroma , Neurofibromatose 1 , Glioma do Nervo Óptico , Feminino , Humanos , Criança , Pré-Escolar , Neurofibromatose 1/genética , Neurofibroma/complicações , Neurofibroma/genética , GenótipoRESUMO
Purpose: Oncofertility care for pediatric, adolescent, and young adult cancer patients remains under-implemented across adult and pediatric oncology settings. We pilot tested an electronic health record (EHR)-enabled multicomponent oncofertility intervention (including screening, referral, and fertility consult) in an adult academic oncology program and systematically assessed intervention fit to pediatric and community oncology programs. Methods: Using surveys (n = 33), audits (n = 143), and interviews (n = 21) guided by implementation science frameworks, we pilot tested the EHR-enabled intervention for oncofertility care in young cancer patients at an adult oncology program and evaluated implementation outcomes. We interviewed health care providers from seven regional oncology and fertility programs about intervention fit to their clinical contexts. Results: We recruited 33 health care providers from an adult oncology setting and 15 health care providers from seven additional oncology and fertility settings. At the adult oncology setting, the intervention was found to be appropriate, acceptable, and feasible and improved the screening of fertility needs (from 30% pre- to 51% post-intervention); yet, some patients did not receive appropriate referrals to fertility consults. Providers across all settings suggested content and context modifications, such as adding options to the intervention or allowing the screening component to pop up at a second visit, to improve and adapt the intervention to better fit their clinical care contexts. Conclusions: We found that the EHR-enabled intervention increased the rate of goal-concordant oncofertility care delivery at an adult oncology program. We also identified facilitators, barriers, and needed adaptations to the intervention required for implementation and scaling-up across diverse oncology settings.
Assuntos
Preservação da Fertilidade , Neoplasias , Telemedicina , Adolescente , Adulto Jovem , Humanos , Criança , Adulto , Projetos Piloto , Neoplasias/complicações , FertilidadeRESUMO
Biologic therapies have revolutionized the treatment of immune-mediated diseases. They are generally well tolerated; however, there are reports of malignancies associated with the use of these drugs. This case is of an adolescent with refractory Crohn's disease treated with ustekinumab, who subsequently developed Ewing's sarcoma. Patients treated with ustekinumab have reportedly developed B cell lymphoma, epithelioid sarcoma, as well as cancer of the lung, esophagus, ovary, testis, kidney, and thyroid. However, this is the first documented case of a patient treated with ustekinumab to develop Ewing sarcoma.
