726 results on '"Fisher, Michael J"'
Search Results
2. Harmonization Across Imaging Locations(HAIL): One-Shot Learning for Brain MRI
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Parida, Abhijeet, Jiang, Zhifan, Anwar, Syed Muhammad, Foreman, Nicholas, Stence, Nicholas, Fisher, Michael J., Packer, Roger J., Avery, Robert A., and Linguraru, Marius George
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Electrical Engineering and Systems Science - Image and Video Processing ,Computer Science - Computer Vision and Pattern Recognition ,Computer Science - Machine Learning - Abstract
For machine learning-based prognosis and diagnosis of rare diseases, such as pediatric brain tumors, it is necessary to gather medical imaging data from multiple clinical sites that may use different devices and protocols. Deep learning-driven harmonization of radiologic images relies on generative adversarial networks (GANs). However, GANs notoriously generate pseudo structures that do not exist in the original training data, a phenomenon known as "hallucination". To prevent hallucination in medical imaging, such as magnetic resonance images (MRI) of the brain, we propose a one-shot learning method where we utilize neural style transfer for harmonization. At test time, the method uses one image from a clinical site to generate an image that matches the intensity scale of the collaborating sites. Our approach combines learning a feature extractor, neural style transfer, and adaptive instance normalization. We further propose a novel strategy to evaluate the effectiveness of image harmonization approaches with evaluation metrics that both measure image style harmonization and assess the preservation of anatomical structures. Experimental results demonstrate the effectiveness of our method in preserving patient anatomy while adjusting the image intensities to a new clinical site. Our general harmonization model can be used on unseen data from new sites, making it a valuable tool for real-world medical applications and clinical trials., Comment: Under review
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- 2023
3. Review of imaging recommendations from Response Assessment in Pediatric Neuro-Oncology (RAPNO)
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Bhatia, Aashim, Sabin, Noah D., Fisher, Michael J., and Poussaint, Tina Young
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- 2023
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4. MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.
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de Blank, Peter MK, Gross, Andrea M, Akshintala, Srivandana, Blakeley, Jaishri O, Bollag, Gideon, Cannon, Ashley, Dombi, Eva, Fangusaro, Jason, Gelb, Bruce D, Hargrave, Darren, Kim, AeRang, Klesse, Laura J, Loh, Mignon, Martin, Staci, Moertel, Christopher, Packer, Roger, Payne, Jonathan M, Rauen, Katherine A, Rios, Jonathan J, Robison, Nathan, Schorry, Elizabeth K, Shannon, Kevin, Stevenson, David A, Stieglitz, Elliot, Ullrich, Nicole J, Walsh, Karin S, Weiss, Brian D, Wolters, Pamela L, Yohay, Kaleb, Yohe, Marielle E, Widemann, Brigitte C, and Fisher, Michael J
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Neurosciences ,Neurofibromatosis ,Rare Diseases ,Cancer ,Pediatric ,Child ,Humans ,Consensus ,Mitogen-Activated Protein Kinase Kinases ,Neurofibroma ,Plexiform ,Neurofibromatosis 1 ,Protein Kinase Inhibitors ,low-grade glioma ,MEK inhibitors ,neurofibromatosis type 1 ,plexiform neurofibromas ,RASopathy ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
The wide variety of clinical manifestations of the genetic syndrome neurofibromatosis type 1 (NF1) are driven by overactivation of the RAS pathway. Mitogen-activated protein kinase kinase inhibitors (MEKi) block downstream targets of RAS. The recent regulatory approvals of the MEKi selumetinib for inoperable symptomatic plexiform neurofibromas in children with NF1 have made it the first medical therapy approved for this indication in the United States, the European Union, and elsewhere. Several recently published and ongoing clinical trials have demonstrated that MEKi may have potential benefits for a variety of other NF1 manifestations, and there is broad interest in the field regarding the appropriate clinical use of these agents. In this review, we present the current evidence regarding the use of existing MEKi for a variety of NF1-related manifestations, including tumor (neurofibromas, malignant peripheral nerve sheath tumors, low-grade glioma, and juvenile myelomonocytic leukemia) and non-tumor (bone, pain, and neurocognitive) manifestations. We discuss the potential utility of MEKi in related genetic conditions characterized by overactivation of the RAS pathway (RASopathies). In addition, we review practical treatment considerations for the use of MEKi as well as provide consensus recommendations regarding their clinical use from a panel of experts.
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- 2022
5. Defining a chromatin architecture that supports transcription at RNA polymerase II promoters
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Fisher, Michael J. and Luse, Donal S.
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- 2024
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6. The impact of changes in gadolinium-enhancement on disease progression in children with neurofibromatosis type 1-associated optic pathway glioma: a retrospective analysis
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Kotch, Chelsea, Si, Stephanie J., Desai, Kavita, Caminada, Philippe, Lo Russo, Francesco Maria, Li, Yimei, Liu, Grant T., Avery, Robert A., and Fisher, Michael J.
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- 2023
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7. Management of Pediatric Patient with Neurofibromatosis
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Kotch, Chelsea, Fisher, Michael J., Shimony, Nir, editor, and Jallo, George, editor
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- 2023
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8. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
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Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A, Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J, Friedman, Jan M, Gutmann, David H, Kehrer-Sawatzki, Hildegard, Korf, Bruce R, Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A, Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A, Tadini, Gianluca, Ullrich, Nicole J, Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M, Evans, D Gareth, and Plotkin, Scott R
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Biological Sciences ,Genetics ,Neurosciences ,Rare Diseases ,Clinical Research ,Neurofibromatosis ,Cafe-au-Lait Spots ,Consensus ,Genetic Testing ,Humans ,Neurofibromatosis 1 ,International Consensus Group on Neurofibromatosis Diagnostic Criteria ,Clinical Sciences ,Genetics & Heredity - Abstract
PurposeBy incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS).MethodsWe used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups.ResultsWe reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended.ConclusionThe revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.
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- 2021
9. Retrospective Cohort Analysis of the Impact of Puberty on Plexiform Neurofibroma Growth in Patients with Neurofibromatosis Type 1
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Kotch, Chelsea, Dombi, Eva, Shah, Amish C., Smith, Katherine, Brown, Symone, Li, Yimei, Widemann, Brigitte C., and Fisher, Michael J.
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- 2023
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10. Inspector General and the Air National Guard
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Fisher, Michael J., Col
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NATIONAL GUARD - Air Force ,INSPECTION - Air Force ,INSPECTOR GENERAL - Air Force - Published
- 1994
11. A phase II study of continuous oral mTOR inhibitor everolimus for recurrent, radiographic-progressive neurofibromatosis type 1–associated pediatric low-grade glioma: a Neurofibromatosis Clinical Trials Consortium study
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Ullrich, Nicole J, Prabhu, Sanjay P, Reddy, Alyssa T, Fisher, Michael J, Packer, Roger, Goldman, Stewart, Robison, Nathan J, Gutmann, David H, Viskochil, David H, Allen, Jeffrey C, Korf, Bruce, Cantor, Alan, Cutter, Gary, Thomas, Coretta, Perentesis, John P, Mizuno, Tomoyuki, Vinks, Alexander A, Manley, Peter E, Chi, Susan N, and Kieran, Mark W
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Biomedical and Clinical Sciences ,Clinical Sciences ,Oncology and Carcinogenesis ,Brain Disorders ,Orphan Drug ,Neurofibromatosis ,Pediatric ,Biotechnology ,Pediatric Research Initiative ,Clinical Trials and Supportive Activities ,Cancer ,Brain Cancer ,Rare Diseases ,Neurosciences ,Clinical Research ,6.1 Pharmaceuticals ,Evaluation of treatments and therapeutic interventions ,Antineoplastic Agents ,Child ,Everolimus ,Glioma ,Humans ,Neurofibromatosis 1 ,Sirolimus ,TOR Serine-Threonine Kinases ,everolimus ,low-grade glioma ,neurofibromatosis ,NF1 ,RAD001 ,PIK3K/mTOR pathway ,Oncology & Carcinogenesis ,Oncology and carcinogenesis - Abstract
BackgroundActivation of the mammalian target of rapamycin (mTOR) pathway is observed in neurofibromatosis type 1 (NF1) associated low-grade gliomas (LGGs), but agents that inhibit this pathway, including mTOR inhibitors, have not been studied in this population. We evaluate the efficacy of the orally administered mTOR inhibitor everolimus for radiographically progressive NF1-associated pediatric LGGs.MethodsChildren with radiologic-progressive, NF1-associated LGG and prior treatment with a carboplatin-containing chemotherapy were prospectively enrolled on this phase II clinical trial to receive daily everolimus. Whole blood was analyzed for everolimus and markers of phosphatidylinositol-3 kinase (PI3K)/mTOR pathway inhibition. Serial MRIs were obtained during treatment. The primary endpoint was progression-free survival at 48 weeks.ResultsTwenty-three participants (median age, 9.4 y; range, 3.2-21.6 y) were enrolled. All participants were initially evaluable for response; 1 patient was removed from study after development of a malignant peripheral nerve sheath tumor. Fifteen of 22 participants (68%) demonstrated a response, defined as either shrinkage (1 complete response, 2 partial response) or arrest of tumor growth (12 stable disease). Of these, 10/15 remained free of progression (median follow-up, 33 mo). All remaining 22 participants were alive at completion of therapy. Treatment was well tolerated; no patient discontinued therapy due to toxicity. Pharmacokinetic parameters and pre-dose concentrations showed substantial between-subject variability. PI3K/mTOR pathway inhibition markers demonstrating blood mononuclear cell mTOR pathway inactivation was achieved in most participants.ConclusionIndividuals with recurrent/progressive NF1-associated LGG demonstrate significant disease stability/shrinkage during treatment with oral everolimus with a well-tolerated toxicity profile. Everolimus is well suited for future consideration as upfront or combination therapy in this patient population.
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- 2020
12. Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials
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Liu, Anthony PY, Gudenas, Brian, Lin, Tong, Orr, Brent A, Klimo, Paul, Kumar, Rahul, Bouffet, Eric, Gururangan, Sridharan, Crawford, John R, Kellie, Stewart J, Chintagumpala, Murali, Fisher, Michael J, Bowers, Daniel C, Hassall, Tim, Indelicato, Daniel J, Onar-Thomas, Arzu, Ellison, David W, Boop, Frederick A, Merchant, Thomas E, Robinson, Giles W, Northcott, Paul A, and Gajjar, Amar
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Biomedical and Clinical Sciences ,Clinical Sciences ,Oncology and Carcinogenesis ,Pediatric Cancer ,Genetics ,Clinical Trials and Supportive Activities ,Biotechnology ,Pediatric ,Clinical Research ,Prevention ,Cancer ,Adolescent ,Age Factors ,Brain Neoplasms ,Child ,Child ,Preschool ,Cohort Studies ,DNA Methylation ,Female ,Humans ,Male ,Pineal Gland ,Pinealoma ,Proto-Oncogene Mas ,Risk Factors ,Survival Rate ,Young Adult ,Pineoblastoma ,Clinical trial ,Molecular subgroups ,DICER1 ,MicroRNA processing ,FOXR2 ,Neurosciences ,Neurology & Neurosurgery - Abstract
Pineoblastoma is a rare embryonal tumor of childhood that is conventionally treated with high-dose craniospinal irradiation (CSI). Multi-dimensional molecular evaluation of pineoblastoma and associated intertumoral heterogeneity is lacking. Herein, we report outcomes and molecular features of children with pineoblastoma from two multi-center, risk-adapted trials (SJMB03 for patients ≥ 3 years; SJYC07 for patients
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- 2020
13. Promoter proximal nucleosomes attenuate RNA polymerase II transcription through TFIID
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Fisher, Michael J. and Luse, Donal S.
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- 2023
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14. Social challenges, autism spectrum disorder, and attention deficit/hyperactivity disorder in youth with neurofibromatosis type I
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Hocking, Matthew C., primary, Albee, May V., additional, Kim, Mina, additional, Berman, Jeffrey I., additional, Fisher, Michael J., additional, Roberts, Timothy P. L, additional, and Blaskey, Lisa, additional
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- 2024
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15. Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial
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Fangusaro, Jason, Onar-Thomas, Arzu, Young Poussaint, Tina, Wu, Shengjie, Ligon, Azra H, Lindeman, Neal, Banerjee, Anuradha, Packer, Roger J, Kilburn, Lindsay B, Goldman, Stewart, Pollack, Ian F, Qaddoumi, Ibrahim, Jakacki, Regina I, Fisher, Paul G, Dhall, Girish, Baxter, Patricia, Kreissman, Susan G, Stewart, Clinton F, Jones, David TW, Pfister, Stefan M, Vezina, Gilbert, Stern, Jessica S, Panigrahy, Ashok, Patay, Zoltan, Tamrazi, Benita, Jones, Jeremy Y, Haque, Sofia S, Enterline, David S, Cha, Soonmee, Fisher, Michael J, Doyle, Laurence Austin, Smith, Malcolm, Dunkel, Ira J, and Fouladi, Maryam
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Clinical Trials and Supportive Activities ,Pediatric Cancer ,Brain Cancer ,Rare Diseases ,Brain Disorders ,Clinical Research ,Cancer ,Pediatric ,Neurosciences ,Evaluation of treatments and therapeutic interventions ,6.1 Pharmaceuticals ,Adolescent ,Benzimidazoles ,Central Nervous System Neoplasms ,Child ,Child ,Preschool ,Disease Progression ,Female ,Glioma ,Humans ,Male ,Neoplasm Grading ,Neoplasms ,Multiple Primary ,Neurofibromatosis 1 ,Proto-Oncogene Proteins B-raf ,Young Adult ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
BackgroundPaediatric low-grade glioma is the most common CNS tumour of childhood. Although overall survival is good, disease often recurs. No single universally accepted treatment exists for these patients; however, standard cytotoxic chemotherapies are generally used. We aimed to assess the activity of selumetinib, a MEK1/2 inhibitor, in these patients.MethodsThe Pediatric Brain Tumor Consortium performed a multicentre, phase 2 study in patients with paediatric low-grade glioma in 11 hospitals in the USA. Patients aged 3-21 years with a Lansky or Karnofsky performance score greater than 60 and the presence of recurrent, refractory, or progressive paediatric low-grade glioma after at least one standard therapy were eligible for inclusion. Patients were assigned to six unique strata according to histology, tumour location, NF1 status, and BRAF aberration status; herein, we report the results of strata 1 and 3. Stratum 1 comprised patients with WHO grade I pilocytic astrocytoma harbouring either one of the two most common BRAF aberrations (KIAA1549-BRAF fusion or the BRAFV600E [Val600Glu] mutation). Stratum 3 comprised patients with any neurofibromatosis type 1 (NF1)-associated paediatric low-grade glioma (WHO grades I and II). Selumetinib was provided as capsules given orally at the recommended phase 2 dose of 25 mg/m2 twice daily in 28-day courses for up to 26 courses. The primary endpoint was the proportion of patients with a stratum-specific objective response (partial response or complete response), as assessed by the local site and sustained for at least 8 weeks. All responses were reviewed centrally. All eligible patients who initiated treatment were evaluable for the activity and toxicity analyses. Although the trial is ongoing in other strata, enrolment and planned follow-up is complete for strata 1 and 3. This trial is registered with ClinicalTrials.gov, number NCT01089101.FindingsBetween July 25, 2013, and June 12, 2015, 25 eligible and evaluable patients were accrued to stratum 1, and between Aug 28, 2013, and June 25, 2015, 25 eligible and evaluable patients were accrued to stratum 3. In stratum 1, nine (36% [95% CI 18-57]) of 25 patients achieved a sustained partial response. The median follow-up for the 11 patients who had not had a progression event by Aug 9, 2018, was 36·40 months (IQR 21·72-45·59). In stratum 3, ten (40% [21-61]) of 25 patients achieved a sustained partial response; median follow-up was 48·60 months (IQR 39·14-51·31) for the 17 patients without a progression event by Aug 9, 2018. The most frequent grade 3 or worse adverse events were elevated creatine phosphokinase (five [10%]) and maculopapular rash (five [10%]). No treatment-realted deaths were reported.InterpretationSelumetinib is active in recurrent, refractory, or progressive pilocytic astrocytoma harbouring common BRAF aberrations and NF1-associated paediatric low-grade glioma. These results show that selumetinib could be an alternative to standard chemotherapy for these subgroups of patients, and have directly led to the development of two Children's Oncology Group phase 3 studies comparing standard chemotherapy to selumetinib in patients with newly diagnosed paediatric low-grade glioma both with and without NF1.FundingNational Cancer Institute Cancer Therapy Evaluation Program, the American Lebanese Syrian Associated Charities, and AstraZeneca.
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- 2019
16. First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics
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Rauen, Katherine A, Alsaegh, Abeer, Ben‐Shachar, Shay, Berman, Yemima, Blakeley, Jaishri, Cordeiro, Isabel, Elgersma, Ype, Evans, D Gareth, Fisher, Michael J, Frayling, Ian M, George, Joshi, Huson, Susan M, Kerr, Bronwyn, Khire, Uday, Korf, Bruce, Legius, Eric, Messiaen, Ludwine, van Minkelen, Rick, Nampoothiri, Sheela, Ngeow, Joanne, Parada, Luis F, Phadke, Shubha, Pillai, Ashok, Plotkin, Scott R, Puri, Ratna, Raji, Anup, Ramesh, Vijaya, Ratner, Nancy, Shankar, Suma P, Sharda, Sheetal, Tambe, Anant, Vikkula, Miikka, Widemann, Brigitte C, Wolkenstein, Pierre, and Upadhyaya, Meena
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Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Neurofibromatosis ,Neurosciences ,Brain Disorders ,Intellectual and Developmental Disabilities (IDD) ,Rare Diseases ,Pediatric ,Congenital ,Biomarkers ,Disease Management ,Genetic Association Studies ,Genetic Predisposition to Disease ,Humans ,Mitogen-Activated Protein Kinases ,Molecular Diagnostic Techniques ,Molecular Targeted Therapy ,Neurofibromatoses ,Signal Transduction ,Translational Research ,Biomedical ,ras Proteins ,clinical trial ,neurofibromatoses ,RASopathy ,signal transduction pathway ,therapy ,Clinical Sciences ,Clinical sciences - Abstract
The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Due to their common underlying pathogenetic etiology, all these syndromes have significant phenotypic overlap of which one common feature include a predisposition to tumors, which may be benign or malignant. Together as a group, they represent one of the most common multiple congenital anomaly syndromes estimating to affect approximately one in 1000 individuals worldwide. The subcontinent of India represents one of the largest populations in the world, yet remains underserved from an aspect of clinical genetics services. In an effort to bridge this gap, the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics was held in Kochi, Kerala, India. These proceedings chronicle this timely and topical international symposium directed at discussing the best practices and therapies for individuals with neurofibromatoses and RASopathies.
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- 2019
17. Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases.
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Dhaenens, Britt A E, Heimann, Günter, Bakker, Annette, Nievo, Marco, Ferner, Rosalie E, Evans, D Gareth, Wolkenstein, Pierre, Leubner, Jonas, Potratz, Cornelia, Carton, Charlotte, Iloeje, Uchenna, Kirk, George, Blakeley, Jaishri O, Plotkin, Scott, Fisher, Michael J, Kim, AeRang, Driever, Pablo Hernáiz, Azizi, Amedeo A, Widemann, Brigitte C, and Gross, Andrea
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RARE diseases ,NEUROFIBROMATOSIS 1 ,TREATMENT effectiveness ,CLINICAL trials ,NATURAL history - Abstract
Background Neurofibromatosis type 1, NF2 -related schwannomatosis and non- NF2 -related schwannomatosis (grouped under the abbreviation "NF") are rare hereditary tumor predisposition syndromes. Due to the low prevalence, variability in the range, and severity of manifestations, as well as limited treatment options, these conditions require innovative trial designs to accelerate the development of new treatments. Methods Within European Patient-Centric Clinical Trial Platforms (EU-PEARL), we designed 2 platform-basket trials in NF. The trials were designed by a team of multidisciplinary NF experts and trial methodology experts. Results The trial will consist of an observational and a treatment period. The observational period will serve as a longitudinal natural history study. The platform trial design and randomization to a sequence of available interventions allow for the addition of interventions during the trial. If a drug does not meet the predetermined efficacy endpoint or reveals unacceptable toxicities, participants may stop treatment on that arm and re-enter the observational period, where they can be re-randomized to a different treatment arm if eligible. Intervention-specific eligibility criteria and endpoints are listed in intervention-specific-appendices, allowing the flexibility and adaptability needed for highly variable and rare conditions like NF. Conclusions These innovative platform-basket trials for NF may serve as a model for other rare diseases, as they will enhance the chance of identifying beneficial treatments through optimal learning from a small number of patients. The goal of these trials is to identify beneficial treatments for NF more rapidly and at a lower cost than traditional, single-agent clinical trials. [ABSTRACT FROM AUTHOR]
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- 2024
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18. Germ Cell Tumors
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Desai, Kavita, Fisher, Michael J., and Alter, Craig A., editor
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- 2021
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19. 2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis
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Fisher, Michael J, Belzberg, Allan J, de Blank, Peter, De Raedt, Thomas, Elefteriou, Florent, Ferner, Rosalie E, Giovannini, Marco, Harris, Gordon J, Kalamarides, Michel, Karajannis, Matthias A, Kim, AeRang, Lázaro, Conxi, Le, Lu Q, Li, Wei, Listernick, Robert, Martin, Staci, Morrison, Helen, Pasmant, Eric, Ratner, Nancy, Schorry, Elisabeth, Ullrich, Nicole J, Viskochil, David, Weiss, Brian, Widemann, Brigitte C, Zhu, Yuan, Bakker, Annette, and Serra, Eduard
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Biomedical and Clinical Sciences ,Clinical Sciences ,Rare Diseases ,Cancer ,Neurosciences ,Biotechnology ,Pediatric ,Brain Cancer ,Neurofibromatosis ,Brain Disorders ,Animals ,Disease Management ,Disease Models ,Animal ,Genetic Association Studies ,Genetic Predisposition to Disease ,Humans ,Molecular Diagnostic Techniques ,Neurilemmoma ,Neurofibromatoses ,Neurofibromatosis 1 ,Neurofibromatosis 2 ,Skin Neoplasms ,Translational Research ,Biomedical ,autism ,conference ,ependymoma ,glioma ,malignant peripheral nerve sheath tumor ,meningioma ,merlin ,neurofibroma ,neurofibromatosis ,neurofibromin ,schwannoma ,schwannomatosis ,pseudoarthrosis ,Genetics ,Clinical sciences - Abstract
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism. The transformation from plexiform neurofibroma (PNF) to malignant peripheral nerve sheath tumor (MPNST) is being clarified, along with new management and treatments for benign and premalignant tumors. Promising new cellular and in vivo models for understanding the musculoskeletal abnormalities in NF1, the development of NF2 or SWN associated schwannomas, and clarifying the cells that give rise to NF1-associated optic pathway glioma were presented. The interaction of neurofibromin and SPRED1 was described comprehensively, providing functional insight that will help in the interpretation of pathogenicity of certain missense variants identified in NF1 and Legius syndrome patients. Novel promising imaging techniques are being developed, as well as new integrative and holistic management models for patients that take into account psychological, social, and biological factors. Importantly, new therapeutic approaches for schwannomas, meningiomas, ependymomas, PNF, and MPNST are being pursued. This report highlights the major advances that were presented at the 2016 CTF NF conference.
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- 2018
20. Pediatric low-grade gliomas: next biologically driven steps.
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Jones, David TW, Kieran, Mark W, Bouffet, Eric, Alexandrescu, Sanda, Bandopadhayay, Pratiti, Bornhorst, Miriam, Ellison, David, Fangusaro, Jason, Fisher, Michael J, Foreman, Nicholas, Fouladi, Maryam, Hargrave, Darren, Hawkins, Cynthia, Jabado, Nada, Massimino, Maura, Mueller, Sabine, Perilongo, Giorgio, Schouten van Meeteren, Antoinette YN, Tabori, Uri, Warren, Katherine, Waanders, Angela J, Walker, David, Weiss, William, Witt, Olaf, Wright, Karen, Zhu, Yuan, Bowers, Daniel C, Pfister, Stefan M, and Packer, Roger J
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Pediatric ,Brain Disorders ,Neurosciences ,Pediatric Research Initiative ,Cancer ,Rare Diseases ,Brain Cancer ,Adult ,Animals ,Brain Neoplasms ,Child ,Disease Models ,Animal ,Glioma ,Humans ,Neoplasm Grading ,Pathology ,Molecular ,Treatment Outcome ,low-grade glioma ,MAPK pathway ,molecular diagnostics ,neurooncology ,pediatric brain tumor ,targeted therapy ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
Despite the fact that they are not typically life-threatening, low-grade gliomas (LGGs) remain a significant clinical challenge in pediatric neuro-oncology due to comorbidities associated with these tumors and/or their treatments, and their propensity to multiply recurs. LGGs, in total the most common brain tumors arising in childhood, can often become a chronic problem requiring decades of management. The Second International Consensus Conference on Pediatric Low-Grade Gliomas held in Padua, Italy in 2016 was convened in an attempt to advance the pace of translating biological discoveries on LGGs into meaningful clinical benefit. Topics discussed included: the implications of our growing biological understanding of the genomics underlying these tumors; the assessment of the model systems available; the implications of the molecular and histopathologic differences between adult and pediatric diffuse gliomas; and steps needed to expedite targeted therapy into late-stage clinical trials for newly diagnosed cases. Methods for the diagnostic assessment of alterations in the Ras/mitogen-activated protein kinase pathway, typical for these tumors, were also considered. While the overall tone was positive, with a consensus that progress is being and will continue to be made, the scale of the challenge presented by this complex group of tumors was also acknowledged. The conclusions and recommendations of the meeting panel are provided here as an outline of current thinking and a basis for further discussion.
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- 2018
21. Response assessment in medulloblastoma and leptomeningeal seeding tumors: recommendations from the Response Assessment in Pediatric Neuro-Oncology committee.
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Warren, Katherine E, Vezina, Gilbert, Poussaint, Tina Y, Warmuth-Metz, Monika, Chamberlain, Marc C, Packer, Roger J, Brandes, Alba A, Reiss, Moshe, Goldman, Stewart, Fisher, Michael J, Pollack, Ian F, Prados, Michael D, Wen, Patrick Y, Chang, Susan M, Dufour, Christelle, Zurakowski, David, Kortmann, Rolf D, and Kieran, Mark W
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Pediatric ,Pediatric Cancer ,Rare Diseases ,Cancer ,Brain Cancer ,Brain Disorders ,Pediatric Research Initiative ,Clinical Research ,Neurosciences ,Clinical Trials and Supportive Activities ,Brain ,Brain Neoplasms ,Child ,Humans ,Medulloblastoma ,Meningeal Neoplasms ,Neoplasm Seeding ,Neuroimaging ,brain ,medulloblastoma ,RANO ,response ,tumor ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
Lack of standard response criteria in clinical trials for medulloblastoma and other seeding tumors complicates assessment of therapeutic efficacy and comparisons across studies. An international working group was established to develop consensus recommendations for response assessment. The aim is that these recommendations be prospectively evaluated in clinical trials, with the goal of achieving more reliable risk stratification and uniformity across clinical trials. Current practices and literature review were performed to identify major confounding issues and justify subsequently developed recommendations; in areas lacking scientific investigations, recommendations were based on experience of committee members and consensus was reached after discussion. Recommendations apply to both adult and pediatric patients with medulloblastoma and other seeding tumors. Response should be assessed using MR imaging (brain and spine), CSF cytology, and neurologic examination. Clinical imaging standards with minimum mandatory sequence acquisition that optimizes detection of leptomeningeal metastases are defined. We recommend central review prior to inclusion in treatment cohorts to ensure appropriate risk stratification and cohort inclusion. Consensus recommendations and response definitions for patients with medulloblastomas and other seeding tumors have been established; as with other Response Assessment in Neuro-Oncology recommendations, these need to now be prospectively validated in clinical trials.
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- 2018
22. Considering Functional Outcomes as Efficacy Endpoints in Pediatric Low-Grade Glioma Clinical Trials: An FDA Educational Symposium
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Fangusaro, Jason, primary, Avery, Robert A., additional, Fisher, Michael J., additional, Packer, Roger J., additional, Walsh, Karin S., additional, Schouten-van Meeteren, Antoinette, additional, Karres, Dominik, additional, Bradford, Diana, additional, Bhatnagar, Vishal, additional, Singh, Harpreet, additional, Kluetz, Paul G., additional, Donoghue, Martha, additional, and Duke, Elizabeth S., additional
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- 2024
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23. The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis
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Blakeley, Jaishri O, Bakker, Annette, Barker, Anne, Clapp, Wade, Ferner, Rosalie, Fisher, Michael J, Giovannini, Marco, Gutmann, David H, Karajannis, Matthias A, Kissil, Joseph L, Legius, Eric, Lloyd, Alison C, Packer, Roger J, Ramesh, Vijaya, Riccardi, Vincent M, Stevenson, David A, Ullrich, Nicole J, Upadhyaya, Meena, and Stemmer‐Rachamimov, Anat
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Biomedical and Clinical Sciences ,Immunology ,Brain Disorders ,Neurofibromatosis ,Pediatric ,Rare Diseases ,Orphan Drug ,Cancer ,Pediatric Cancer ,Pediatric Research Initiative ,Neurosciences ,Brain Cancer ,Child ,Humans ,Neurilemmoma ,Neurofibromatoses ,Neurofibromatosis 1 ,Neurofibromatosis 2 ,Pediatrics ,Skin Neoplasms ,neurofibromatosis type 1 ,neurofibromatosis type 2 ,pediatric tumors ,rare disease ,schwannomatosis ,therapeutic discovery ,Genetics ,Clinical Sciences ,Clinical sciences - Abstract
The Annual Children's Tumor Foundation International Neurofibromatosis Meeting is the premier venue for connecting discovery, translational and clinical scientists who are focused on neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis (SWN). The meeting also features rare tumors such as glioma, meningioma, sarcoma, and neuroblastoma that occur both within these syndromes and spontaneously; associated with somatic mutations in NF1, NF2, and SWN. The meeting addresses both state of the field for current clinical care as well as emerging preclinical models fueling discovery of new therapeutic targets and discovery science initiatives investigating mechanisms of tumorigenesis. Importantly, this conference is a forum for presenting work in progress and bringing together all stakeholders in the scientific community. A highlight of the conference was the involvement of scientists from the pharmaceutical industry who presented growing efforts for rare disease therapeutic development in general and specifically, in pediatric patients with rare tumor syndromes. Another highlight was the focus on new investigators who presented new data about biomarker discovery, tumor pathogenesis, and diagnostic tools for NF1, NF2, and SWN. This report summarizes the themes of the meeting and a synthesis of the scientific discoveries presented at the conference in order to make the larger research community aware of progress in the neurofibromatoses.
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- 2017
24. Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis:A potential model for rare diseases
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Dhaenens, Britt A. E., Heimann, Guenter, Bakker, Annette, Nievo, Marco, Ferner, Rosalie E., Evans, D. Gareth, Wolkenstein, Pierre, Leubner, Jonas, Potratz, Cornelia, Carton, Charlotte, Iloeje, Uchenna, Kirk, George, Blakeley, Jaishri O., Plotkin, Scott, Fisher, Michael J., Kim, Aerang, Driever, Pablo Hernaiz, Azizi, Amedeo A., Widemann, Brigitte C., Gross, Andrea, Parke, Tom, Legius, Eric, Oostenbrink, Rianne, Dhaenens, Britt A. E., Heimann, Guenter, Bakker, Annette, Nievo, Marco, Ferner, Rosalie E., Evans, D. Gareth, Wolkenstein, Pierre, Leubner, Jonas, Potratz, Cornelia, Carton, Charlotte, Iloeje, Uchenna, Kirk, George, Blakeley, Jaishri O., Plotkin, Scott, Fisher, Michael J., Kim, Aerang, Driever, Pablo Hernaiz, Azizi, Amedeo A., Widemann, Brigitte C., Gross, Andrea, Parke, Tom, Legius, Eric, and Oostenbrink, Rianne
- Abstract
Background Neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis (grouped under the abbreviation "NF") are rare hereditary tumor predisposition syndromes. Due to the low prevalence, variability in the range, and severity of manifestations, as well as limited treatment options, these conditions require innovative trial designs to accelerate the development of new treatments.Methods Within European Patient-Centric Clinical Trial Platforms (EU-PEARL), we designed 2 platform-basket trials in NF. The trials were designed by a team of multidisciplinary NF experts and trial methodology experts.Results The trial will consist of an observational and a treatment period. The observational period will serve as a longitudinal natural history study. The platform trial design and randomization to a sequence of available interventions allow for the addition of interventions during the trial. If a drug does not meet the predetermined efficacy endpoint or reveals unacceptable toxicities, participants may stop treatment on that arm and re-enter the observational period, where they can be re-randomized to a different treatment arm if eligible. Intervention-specific eligibility criteria and endpoints are listed in intervention-specific-appendices, allowing the flexibility and adaptability needed for highly variable and rare conditions like NF.Conclusions These innovative platform-basket trials for NF may serve as a model for other rare diseases, as they will enhance the chance of identifying beneficial treatments through optimal learning from a small number of patients. The goal of these trials is to identify beneficial treatments for NF more rapidly and at a lower cost than traditional, single-agent clinical trials.
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- 2024
25. Guideline for Children With Cancer Receiving General Anesthesia for Procedures and Imaging
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Devine, Kaitlin J., Diorio, Caroline, Richman, Sarah A., Henderson, Alicia A., Oranges, Katelyn, Armideo, Erin, Kolb, Michelle S., Freedman, Jason L., Aplenc, Richard, Fisher, Michael J., Minturn, Jane E., Olson, Timothy, Bagatell, Rochelle, Barakat, Lamia, Croy, Colleen, Mauro, Jane, Vitlip, Lisa, Acord, Michael R., Mattei, Peter, Johnson, Victoria K., Devine, Conor M., Pasquariello, Caroline, and Reilly, Anne F.
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- 2022
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26. Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1)
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Fisher, Michael J., Jones, David T. W., Li, Yimei, Guo, Xiaofan, Sonawane, Poonam S., Waanders, Angela J., Phillips, Joanna J., Weiss, William A., Resnick, Adam C., Gosline, Sara, Banerjee, Jineta, Guinney, Justin, Gnekow, Astrid, Kandels, Daniela, Foreman, Nicholas K., Korshunov, Andrey, Ryzhova, Marina, Massimi, Luca, Gururangan, Sri, Kieran, Mark W., Wang, Zhihong, Fouladi, Maryam, Sato, Mariko, Øra, Ingrid, Holm, Stefan, Markham, Stephen J., Beck, Pengbo, Jäger, Natalie, Wittmann, Andrea, Sommerkamp, Alexander C., Sahm, Felix, Pfister, Stefan M., and Gutmann, David H.
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- 2021
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27. Cabozantinib for neurofibromatosis type 1-related plexiform neurofibromas: a phase 2 trial
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Fisher, Michael J. and Shih, Chie-Schin
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Neurofibroma -- Care and treatment -- Drug therapy ,Biological sciences ,Health - Abstract
Neurofibromatosis type 1 (NF1) plexiform neurofibromas (PNs) are progressive, multicellular neoplasms that cause morbidity and may transform to sarcoma. Treatment of Nf1.sup.fl/fl;Postn-Cre mice with cabozantinib, an inhibitor of multiple tyrosine kinases, caused a reduction in PN size and number and differential modulation of kinases in cell lineages that drive PN growth. Based on these findings, the Neurofibromatosis Clinical Trials Consortium conducted a phase II, open-label, nonrandomized Simon two-stage study to assess the safety, efficacy and biologic activity of cabozantinib in patients [greater than or equal to]16 years of age with NF1 and progressive or symptomatic, inoperable PN (NCT02101736). The trial met its primary outcome, defined as [greater than or equal to]25% of patients achieving a partial response (PR, defined as [greater than or equal to]20% reduction in target lesion volume as assessed by magnetic resonance imaging (MRI)) after 12 cycles of therapy. Secondary outcomes included adverse events (AEs), patient-reported outcomes (PROs) assessing pain and quality of life (QOL), pharmacokinetics (PK) and the levels of circulating endothelial cells and cytokines. Eight of 19 evaluable (42%) trial participants achieved a PR. The median change in tumor volume was 15.2% (range, +2.2% to -36.9%), and no patients had disease progression while on treatment. Nine patients required dose reduction or discontinuation of therapy due to AEs; common AEs included gastrointestinal toxicity, hypothyroidism, fatigue and palmar plantar erythrodysesthesia. A total of 11 grade 3 AEs occurred in eight patients. Patients with PR had a significant reduction in tumor pain intensity and pain interference in daily life but no change in global QOL scores. These data indicate that cabozantinib is active in NF1-associated PN, resulting in tumor volume reduction and pain improvement. Cabozantinib, an inhibitor of multiple receptor tyrosine kinases, has efficacy in a mouse model of neurofibromatosis type I and has clinical activity in reducing plexiform neurofibroma volume in a phase II trial of patients with NF1., Author(s): Michael J. Fisher [sup.1] , Chie-Schin Shih [sup.2] [sup.17] , Steven D. Rhodes [sup.2] [sup.3] , Amy E. Armstrong [sup.2] [sup.18] , Pamela L. Wolters [sup.4] , Eva Dombi [...]
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- 2021
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28. Response assessment in paediatric low-grade glioma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group
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Fangusaro, Jason, Witt, Olaf, Hernáiz Driever, Pablo, Bag, Asim K, de Blank, Peter, Kadom, Nadja, Kilburn, Lindsay, Lober, Robert M, Robison, Nathan J, Fisher, Michael J, Packer, Roger J, Young Poussaint, Tina, Papusha, Ludmila, Avula, Shivaram, Brandes, Alba A, Bouffet, Eric, Bowers, Daniel, Artemov, Anton, Chintagumpala, Murali, Zurakowski, David, van den Bent, Martin, Bison, Brigitte, Yeom, Kristen W, Taal, Walter, and Warren, Katherine E
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- 2020
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29. Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibromas in NF1
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Plotkin, Scott R, Davis, Stephanie D, Robertson, Kent A, Akshintala, Srivandana, Allen, Julian, Fisher, Michael J, Blakeley, Jaishri O, Widemann, Brigitte C, Ferner, Rosalie E, and Marcus, Carole L
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Biomedical and Clinical Sciences ,Cardiovascular Medicine and Haematology ,Clinical Sciences ,Clinical Research ,Lung ,Neurosciences ,Rare Diseases ,Neurofibromatosis ,Clinical Trials and Supportive Activities ,Sleep Research ,Respiratory ,Clinical Trials as Topic ,Humans ,Neurofibroma ,Plexiform ,Neurofibromatosis 1 ,Oscillometry ,Polysomnography ,Sleep ,Spirometry ,Treatment Outcome ,REiNS International Collaboration ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectivePlexiform 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 important. Because improvement in sleep quality or airway function represents direct clinical benefit, measures of sleep and pulmonary function may be more meaningful than tumor size as endpoints in therapeutic clinical trials targeting airway PN.MethodsThe Response Evaluation in Neurofibromatosis and Schwannomatosis functional outcomes group reviewed currently available endpoints for sleep and pulmonary outcomes and developed consensus recommendations for response evaluation in NF clinical trials.ResultsFor patients with airway PNs, polysomnography, impulse oscillometry, and spirometry should be performed to identify abnormal function that will be targeted by the agent under clinical investigation. The functional group endorsed the use of the apnea hypopnea index (AHI) as the primary sleep endpoint, and pulmonary resistance at 10 Hz (R10) or forced expiratory volume in 1 or 0.75 seconds (FEV1 or FEV0.75) as primary pulmonary endpoints. The group defined minimum changes in AHI, R10, and FEV1 or FEV0.75 for response criteria. Secondary sleep outcomes include desaturation and hypercapnia during sleep and arousal index. Secondary pulmonary outcomes include pulmonary resistance and reactance measurements at 5, 10, and 20 Hz; forced vital capacity; peak expiratory flow; and forced expiratory flows.ConclusionsThese recommended sleep and pulmonary evaluations are intended to provide researchers with a standardized set of clinically meaningful endpoints for response evaluation in trials of NF1-related airway PNs.
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- 2016
30. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
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Stevenson, David A, Schill, Lisa, Schoyer, Lisa, Andresen, Brage S, Bakker, Annette, Bayrak-Toydemir, Pinar, Burkitt-Wright, Emma, Chatfield, Kathryn, Elefteriou, Florent, Elgersma, Ype, Fisher, Michael J, Franz, David, Gelb, Bruce D, Goriely, Anne, Gripp, Karen W, Hardan, Antonio Y, Keppler-Noreuil, Kim M, Kerr, Bronwyn, Korf, Bruce, Leoni, Chiara, McCormick, Frank, Plotkin, Scott R, Rauen, Katherine A, Reilly, Karlyne, Roberts, Amy, Sandler, Abby, Siegel, Dawn, Walsh, Karin, and Widemann, Brigitte C
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Biological Sciences ,Genetics ,Congenital Structural Anomalies ,Neurosciences ,Rare Diseases ,Pediatric ,Congenital ,Capital Financing ,Clinical Trials as Topic ,Family ,Genetic Diseases ,Inborn ,Humans ,Intersectoral Collaboration ,Mitogen-Activated Protein Kinases ,Signal Transduction ,ras Proteins ,RASopathy ,Ras ,MAPK ,cancer ,rare disorders ,clinical trials ,experimental models ,Ras/MAPK ,Clinical Sciences ,Clinical sciences - Abstract
The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field. © 2016 Wiley Periodicals, Inc.
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- 2016
31. Consensus framework for conducting phase I/II clinical trials for children, adolescents, and young adults with pediatric low-grade glioma: Guidelines established by the International Pediatric Low-Grade Glioma Coalition Clinical Trial Working Group
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Mueller, Sabine, primary, Fangusaro, Jason, additional, Thomas, Arzu Onar, additional, Jacques, Thomas S, additional, Bandopadhayay, Pratiti, additional, de Blank, Peter, additional, Packer, Roger J, additional, Fouladi, Maryam, additional, van Meeteren, Antoinette Schouten, additional, Jones, David, additional, Perry, Arie, additional, Nakano, Yoshiko, additional, Hargrave, Darren, additional, Riedl, David, additional, Robinson, Nathan J, additional, Partanen, Marita, additional, Fisher, Michael J, additional, and Witt, Olaf, additional
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- 2023
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32. Adverse cutaneous reactions associated with MEK inhibitor therapy in a pediatric population
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Ahmed, Fahad, primary, Fisher, Michael J., additional, Snyder, Kristen M., additional, Smith, Katherine, additional, Laskin, Benjamin L., additional, and Perman, Marissa J., additional
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- 2023
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33. Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study
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de Blank, Peter, Li, Nan, Fisher, Michael J., Ullrich, Nicole J., Bhatia, Smita, Yasui, Yutaka, Sklar, Charles A., Leisenring, Wendy, Howell, Rebecca, Oeffinger, Kevin, Hardy, Kristina, Okcu, M. Fatih, Gibson, Todd M., Robison, Leslie L., Armstrong, Gregory T., and Krull, Kevin R.
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- 2020
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34. Neuro-Oncologic Considerations in Pediatric Oculoplastic Surgery
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de Blank, Peter, Coffey, Michael D., Fisher, Michael J., Katowitz, James A., editor, and Katowitz, William R., editor
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- 2018
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35. Low-grade Glioma Presenting in the Optic Pathways and Hypothalamus
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Blank, Peter M.K. de, primary, Simmons, Ian, additional, Sehested, Astrid, additional, and Fisher, Michael J., additional
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- 2020
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36. CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies
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Widemann, Brigitte C, Acosta, Maria T, Ammoun, Sylvia, Belzberg, Allan J, Bernards, Andre, Blakeley, Jaishri, Bretscher, Antony, Cichowski, Karen, Clapp, D Wade, Dombi, Eva, Evans, Gareth D, Ferner, Rosalie, Fernandez‐Valle, Cristina, Fisher, Michael J, Giovannini, Marco, Gutmann, David H, Hanemann, C Oliver, Hennigan, Robert, Huson, Susan, Ingram, David, Kissil, Joe, Korf, Bruce R, Legius, Eric, Packer, Roger J, McClatchey, Andrea I, McCormick, Frank, North, Kathryn, Pehrsson, Minja, Plotkin, Scott R, Ramesh, Vijaya, Ratner, Nancy, Schirmer, Susann, Sherman, Larry, Schorry, Elizabeth, Stevenson, David, Stewart, Douglas R, Ullrich, Nicole, Bakker, Annette C, and Morrison, Helen
- Subjects
Biological Sciences ,Biomedical and Clinical Sciences ,Clinical Sciences ,Brain Disorders ,Cancer ,Genetics ,Neurosciences ,Neurofibromatosis ,Pediatric Research Initiative ,Rare Diseases ,Pediatric ,Intellectual and Developmental Disabilities (IDD) ,Humans ,Neurilemmoma ,Neurofibromatoses ,Neurofibromatosis 1 ,Neurofibromatosis 2 ,Skin Neoplasms ,neurofibromatosis type 1 ,neurofibromatosis type 2 ,NF1 ,NF2 ,schwannomatosis ,tumor suppressor ,SMARCB1 ,merlin neurofibromin ,preclinical models ,Clinical sciences - Abstract
The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a "state-of-the-field" for NF research in 2012.
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- 2014
37. Development and pilot validation of a novel disfigurement severity scale for plexiform neurofibromas in children with neurofibromatosis type 1.
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John, Liny, Singh, Gurbani, Dombi, Eva, Wolters, Pamela L, Martin, Staci, Baldwin, Andrea, Steinberg, Seth M, Bernstein, Jessica, Whitcomb, Patricia, Pichard, Dominique C, Dufek, Anne, Gillespie, Andy, Heisey, Kara, Bornhorst, Miriam, Fisher, Michael J, Weiss, Brian D, Kim, AeRang, Widemann, Brigitte C, and Gross, Andrea M
- Subjects
DISABILITIES ,HETEROCYCLIC compounds ,NEUROFIBROMA ,RESEARCH funding ,RESEARCH methodology evaluation ,PILOT projects ,RESEARCH evaluation ,NEUROFIBROMATOSIS 1 ,DESCRIPTIVE statistics ,EXPERIMENTAL design ,RESEARCH methodology ,STATISTICS ,INTER-observer reliability - Abstract
Background/Aims: We developed an observer disfigurement severity scale for neurofibroma-related plexiform neurofibromas to assess change in plexiform neurofibroma–related disfigurement and evaluated its feasibility, reliability, and validity. Methods: Twenty-eight raters, divided into four cohorts based on neurofibromatosis type 1 familiarity and clinical experience, were shown photographs of children in a clinical trial (NCT01362803) at baseline and 1 year on selumetinib treatment for plexiform neurofibromas (n = 20) and of untreated participants with plexiform neurofibromas (n = 4). Raters, blinded to treatment and timepoint, completed the 0–10 disfigurement severity score for plexiform neurofibroma on each image (0 = not at all disfigured, 10 = very disfigured). Raters evaluated the ease of completing the scale, and a subset repeated the procedure to assess intra-rater reliability. Results: Mean baseline disfigurement severity score for plexiform neurofibroma ratings were similar for the selumetinib group (6.23) and controls (6.38). Mean paired differences between pre- and on-treatment ratings was −1.01 (less disfigurement) in the selumetinib group and 0.09 in the control (p = 0.005). For the disfigurement severity score for plexiform neurofibroma ratings, there was moderate-to-substantial agreement within rater cohorts (weighted kappa range = 0.46–0.66) and agreement between scores of the same raters at repeat sessions (p > 0.05). In the selumetinib group, change in disfigurement severity score for plexiform neurofibroma ratings was moderately correlated with change in plexiform neurofibroma volume with treatment (r = 0.60). Conclusion: This study demonstrates that our observer-rated disfigurement severity score for plexiform neurofibroma was feasible, reliable, and documented improvement in disfigurement in participants with plexiform neurofibroma shrinkage. Prospective studies in larger samples are needed to validate this scale further. [ABSTRACT FROM AUTHOR]
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- 2024
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38. The Relationship Between Choroidal Abnormalities and Visual Outcomes in Pediatric Patients With NF1-Associated Optic Pathway Gliomas.
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Estrela, Tais, Truong, Saprina, Garcia, Arielle, He, Jocelyn, Ying, Gui-Shuang, Devakandan, Keshini, Reginald, Y. Arun, Fisher, Michael J., Liu, Grant T., Ullrich, Nicole J., Avery, Robert A., Heidary, Gena, Moss, Heather E., and Pineles, Stacy L.
- Abstract
Background: Choroidal abnormalities (CAs) visualized on near-infrared reflectance (NIR) imaging are a new diagnostic criterion for neurofibromatosis type 1 (NF1), but the association between the presence of CAs and visual function remains unknown. This study evaluated the relationship between visual acuity (VA) with the presence, number, or total area of CAs visualized by NIR in children with NF1-associated optic pathway gliomas (NF1-OPGs). Methods: Patients (<18 years) enrolled in a prospective longitudinal study of children with NF1-associated OPGs from 3 institutions were eligible if they had optical coherence tomography (OCT) of the macula (Heidelberg Spectralis) with ≥1 year of follow-up. The central 30° NIR images were reviewed by 2 neuro-ophthalmologists who manually calculated the number and total area of CAs. VA (logMAR) was measured using a standardized protocol. Cross-sectional associations of presence, number, and total area of CAs with VA, retinal nerve fiber layer thickness (RNFL), and ganglion cell–inner plexiform layer thickness were evaluated at the first and most recent visits using regression models. Intereye correlation was accounted for using generalized estimating equations. Results: Eighty-two eyes of 41 children (56% female) were included. The mean ± SD age at the first OCT was 10.1 ± 3.3 years, with a mean follow-up of 20.4 ± 7.2 months. At study entry, CAs were present in 46% of eyes with a mean number of 2.1 ± 1.7 and a mean total area of 2.0 ± 1.7 mm
2 per eye. At the most recent follow-up, CAs were present in 48% of eyes with a mean number of 2.2 ± 1.8 lesions and a mean total area of 2.3 ± 2.1 mm2 per eye. Neither VA nor OCT parameters at first and follow-up visits were associated with the presence, number, or total area of CAs (all P > 0.05). Conclusions: CAs are prevalent but not ubiquitous, in children with NF1-OPGs. Although CAs are a diagnostic criterion for NF1, their presence and size do not appear to be associated with visual function. [ABSTRACT FROM AUTHOR]- Published
- 2024
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39. Consensus framework for conducting phase I/II clinical trials for children, adolescents, and young adults with pediatric low-grade glioma: Guidelines established by the International Pediatric Low-Grade Glioma Coalition Clinical Trial Working Group.
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Mueller, Sabine, Fangusaro, Jason, Thomas, Arzu Onar, Jacques, Thomas S, Bandopadhayay, Pratiti, Blank, Peter de, Packer, Roger J, Fouladi, Maryam, Meeteren, Antoinette Schouten van, Jones, David, Perry, Arie, Nakano, Yoshiko, Hargrave, Darren, Riedl, David, Robison, Nathan J, Partanen, Marita, Fisher, Michael J, and Witt, Olaf
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- 2024
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40. Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.
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Gross, Andrea M, Plotkin, Scott R, Watts, Nelson B, Fisher, Michael J, Klesse, Laura J, Lessing, Andrés J, McManus, Miranda L, Larson, A Noelle, Oberlander, Beverly, Rios, Jonathan J, Sarnoff, Herb, Simpson, Brittany N, Ullrich, Nicole J, and Stevenson, David A
- Subjects
PHOTON absorptiometry ,OSTEOPENIA ,OSTEOPOROSIS ,INTERPROFESSIONAL relations ,NEUROFIBROMATOSIS 1 ,BONE density ,TUMOR markers - Abstract
Neurofibromatosis type 1 is a genetic syndrome characterized by a wide variety of tumor and non-tumor manifestations. Bone-related issues, such as scoliosis, tibial dysplasia, and low bone mineral density, are a significant source of morbidity for this population with limited treatment options. Some of the challenges to developing such treatments include the lack of consensus regarding the optimal methods to assess bone health in neurofibromatosis type 1 and limited data regarding the natural history of these manifestations. In this review, the Functional Committee of the Response Evaluation in Neurofibromatosis and Schwannomatosis International Collaboration: (1) presents the available techniques for measuring overall bone health and metabolism in persons with neurofibromatosis type 1, (2) reviews data for use of each of these measures in the neurofibromatosis type 1 population, and (3) describes the strengths and limitations for each method as they might be used in clinical trials targeting neurofibromatosis type 1 bone manifestations. The Response Evaluation in Neurofibromatosis and Schwannomatosis International Collaboration supports the development of a prospective, longitudinal natural history study focusing on the bone-related manifestations and relevant biomarkers of neurofibromatosis type 1. In addition, we suggest that the neurofibromatosis type 1 research community consider adding the less burdensome measurements of bone health as exploratory endpoints in ongoing or planned clinical trials for other neurofibromatosis type 1 manifestations to expand knowledge in the field. [ABSTRACT FROM AUTHOR]
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- 2024
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41. Impact of MEK Inhibitor Therapy on Neurocognitive Functioning in NF1
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Walsh, Karin S., Wolters, Pamela L., Widemann, Brigitte C., Castillo, Allison del, Sady, Maegan D., Inker, Tess, Roderick, Marie Claire, Martin, Staci, Toledo-Tamula, Mary Anne, Struemph, Kari, Paltin, Iris, Collier, Victoria, Mullin, Kathy, Fisher, Michael J., and Packer, Roger J.
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- 2021
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42. Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1
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Gross, Andrea M, primary, Plotkin, Scott R, additional, Watts, Nelson B, additional, Fisher, Michael J, additional, Klesse, Laura J, additional, Lessing, Andrés J, additional, McManus, Miranda L, additional, Larson, A Noelle, additional, Oberlander, Beverly, additional, Rios, Jonathan J, additional, Sarnoff, Herb, additional, Simpson, Brittany N, additional, Ullrich, Nicole J, additional, and Stevenson, David A, additional
- Published
- 2023
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43. Optimizing preclinical pediatric low-grade glioma models for meaningful clinical translation
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Milde, Till, primary, Fangusaro, Jason, additional, Fisher, Michael J, additional, Hawkins, Cynthia, additional, Rodriguez, Fausto J, additional, Tabori, Uri, additional, Witt, Olaf, additional, Zhu, Yuan, additional, and Gutmann, David H, additional
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- 2023
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44. Distinguishing colorings of Cartesian products of complete graphs
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Fisher, Michael J. and Isaak, Garth
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Mathematics - Combinatorics ,05C25 - Abstract
We determine the values of s and t for which there is a coloring of the edges of the complete bipartite graph K_{s,t} which admits only the identity automorphism. In particular this allows us to determine the distinguishing number of the Cartesian product of complete graphs., Comment: 11 pages. Submitted for publication
- Published
- 2006
45. WNT-activated embryonal tumors of the pineal region: ectopic medulloblastomas or a novel pineoblastoma subgroup?
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Liu, Anthony P. Y., Priesterbach-Ackley, Loudy P., Orr, Brent A., Li, Bryan K., Gudenas, Brian, Reddingius, Roel E., Suñol, Mariona, Lavarino, Cinzia E., Olaciregui, Nagore G., Santa-María López, Vicente, Fisher, Michael J., Hazrati, Lili-Naz, Bouffet, Eric, Huang, Annie, Robinson, Giles W., Wesseling, Pieter, Northcott, Paul A., and Gajjar, Amar
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- 2020
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46. Correction to: Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials
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Liu, Anthony P. Y., Gudenas, Brian, Lin, Tong, Orr, Brent A., Klimo, Jr., Paul, Kumar, Rahul, Bouffet, Eric, Gururangan, Sridharan, Crawford, John R., Kellie, Stewart J., Chintagumpala, Murali, Fisher, Michael J., Bowers, Daniel C., Hassall, Tim, Indelicato, Daniel J., Onar-Thomas, Arzu, Ellison, David W., Boop, Frederick A., Merchant, Thomas E., Robinson, Giles W., Northcott, Paul A., and Gajjar, Amar
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- 2020
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47. Automatic Visual Acuity Loss Prediction in Children with Optic Pathway Gliomas using Magnetic Resonance Imaging
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Jiang, Zhifan, primary, Parida, Abhijeet, additional, Anwar, Syed Muhammad, additional, Tang, Yucheng, additional, Roth, Holger R., additional, Fisher, Michael J., additional, Packer, Roger J., additional, Avery, Robert A., additional, and Linguraru, Marius George, additional
- Published
- 2023
- Full Text
- View/download PDF
48. Vinblastine/Methotrexate for Debilitating and Progressive Plexiform Neurofibroma in Children and Young Adults with Neurofibromatosis Type 1: A Phase 2 Study
- Author
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Kotch, Chelsea, primary, Wagner, Kristina, additional, Broad, J. Harris, additional, Dombi, Eva, additional, Minturn, Jane E., additional, Phillips, Peter, additional, Smith, Katherine, additional, Li, Yimei, additional, Jacobs, Ian N., additional, Elden, Lisa M., additional, Fisher, Michael J., additional, and Belasco, Jean, additional
- Published
- 2023
- Full Text
- View/download PDF
49. The p-Exponent of the K(1)*-Local Spectrum Φ SU(n)
- Author
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Fisher, Michael J.
- Published
- 2003
50. Pediatric low-grade glioma: State-of-the-art and ongoing challenges.
- Author
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Fangusaro, Jason, Jones, David T, Packer, Roger J, Gutmann, David H, Milde, Till, Witt, Olaf, Mueller, Sabine, Fisher, Michael J, Hansford, Jordan R, Tabori, Uri, Hargrave, Darren, and Bandopadhayay, Pratiti
- Published
- 2024
- Full Text
- View/download PDF
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