ALLMedicine™ Neurofibromatosis Type 1 Center

Oct 22nd, 2021 - To evaluate and compare the clinical and histopathological profile of primary and recurrent orbital-periorbital plexiform neurofibromas (OPPN) in patients with neurofibromatosis type 1. We retrospectively evaluated 43 primary or recurrent neurofib...

Oct 22nd, 2021 - Pediatric optic pathway glioma (OPG) can seriously decrease visual function in the case of progression. Systemic anticancer therapy (SAT) is considered the treatment of first choice for unresectable OPG. New SAT modalities for the treatment of pro...

Oct 21st, 2021 - Background Traditional therapeutic approaches to pediatric cancer have focused on cytotoxic agents and, more recently, targeted inhibition of cellular signaling pathways through the use of small molecule kinase inhibitors. Despite these interventi...

Oct 20th, 2021 - Research indicates that children with neurofibromatosis type 1 (NF1) have weaknesses in fine and gross motor development in early childhood; however, little is known about the stability and developmental trajectory of motor functioning. We investi...

Oct 15th, 2021 - Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a rare congenital disorder with an autosomal dominant inheritance. Severe perioperative complications owing to the congenital fragility of the vascular wall in NF1 patien...

Jul 15th, 2018 - This practice resource is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this practice resource is completely voluntary and does not necessaril...

Aug 17th, 2016 - Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults with this disease. However, there is little agreement regarding measures to use as cognitive endpoi...

Aug 17th, 2016 - The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with ne...

Aug 17th, 2016 - Plexiform neurofibromas (PNs) are complex, benign nerve sheath tumors that occur in approximately 25%-50% of individuals with neurofibromatosis type 1 (NF1). PNs that cause airway compromise or pulmonary dysfunction are uncommon but clinically imp...

Oct 21st, 2021 - Background Traditional therapeutic approaches to pediatric cancer have focused on cytotoxic agents and, more recently, targeted inhibition of cellular signaling pathways through the use of small molecule kinase inhibitors. Despite these interventi...

Oct 6th, 2021 - PRIMARY OBJECTIVE: I. Determine if selumetinib sulfate (selumetinib) can result in shrinkage of cutaneous neurofibromas. SECONDARY OBJECTIVE: I. Assess the effect of selumetinib on target inhibition in cutaneous neurofibroma(s) excised prior treat...

Oct 6th, 2021 - We hypothesize that normal germline variation in gene expression accounts, in part, for variation in the clinical severity and phenotype of the monogenic disorder neurofibromatosis type 1 (NF1). The phenotype of NF1 is constituted by a variety of ...

Oct 4th, 2021 - Background: Rare tumors are defined as fewer than 150 incident cases per one million per year. Consequently, only 11 tumor types are common in U.S. adults (prostate, breast, lung/bronchus, colon, uterus, bladder, melanoma, rectum, ovary, non-Hodgk...

May 27th, 2021 - This study will evaluate the tolerability and effectiveness of four FDA-approved treatments in Neurofibromatosis Type 1 Cutaneous Neurofibromas. These treatments are: a 980nm laser, a 755nm laser, radio-frequency injection, and a Kybella injection...

Oct 6th, 2021 - Jonathan C. Trent, MD, PhD, professor and associate director for Clinical Research at the Sylvester Comprehensive Cancer Center, University of Miami Health System, discusses the utility of circulating tumor DNA (ctDNA) to understand primary driver...

Sep 6th, 2021 - A novel liquid biopsy test has been shown to distinguish between patients with neurofibromatosis type 1 (NF1) who have benign plexiform neurofibroma (PN) precursor lesions from patients who have malignant peripheral nerve sheath tumors (MPNST), sa...

Jul 27th, 2021 - When a child presents with café au lait macules, when is genetic testing for neurofibromatosis type 1 (NF1) advised? According to Peter Kannu, MB, ChB, DCH, PhD, a definitive diagnosis of NF1 can be made in most children using National Institutes ...

Apr 2nd, 2021 - Transcript:R. Michael Tuttle, MD: If I can come back to Marcia and Eric to round out this session. I hear you guys talk all the time about doing all this fancy molecular testing, and we test for 400 genes and most of the time it doesn’t help me. I...

Feb 4th, 2021 - In a year marked by collaboration and innovation, therapeutic developments in oncology care once again dominated the novel drug approvals in 2020. In total, 21 novel agents were approved across hematology/ oncology, including 3 diagnostic imaging ...