Advancing neurofibromatosis and schwannomatosis clinical trial design: Consensus recommendations from the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration
Clin Trials. 2023 Sep 29:17407745231201345. doi: 10.1177/17407745231201345. Online ahead of print.NO ABSTRACTPMID:37776044 | DOI:10.1177/17407745231201345 (Source: Clinical Trials)
Source: Clinical Trials - September 30, 2023 Category: Research Authors: Vanessa L Merker Andrea M Gross Brigitte C Widemann Scott R Plotkin Source Type: research
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1
Clin Trials. 2023 Sep 29:17407745231201338. doi: 10.1177/17407745231201338. Online ahead of print.ABSTRACTNeurofibromatosis 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 manifesta...
Source: Clinical Trials - September 29, 2023 Category: Research Authors: Andrea M Gross Scott R Plotkin Nelson B Watts Michael J Fisher Laura J Klesse Andr és J Lessing Miranda L McManus A Noelle Larson Beverly Oberlander Jonathan J Rios Herb Sarnoff Brittany N Simpson Nicole J Ullrich David A Stevenson Source Type: research
Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
ConclusionThe first similar case was reported in 2020. The current case was distinct from other cases since an additional twoNF1 mutations were found in the patient. In conjunction with prior case reports, our findings imply that genetic testing in patients diagnosed with neurofibromatosis type 1 could be helpful in the development of effective treatments. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 29, 2023 Category: Cancer & Oncology Source Type: research
Characterizing T-cell dysfunction and exclusion signatures in malignant peripheral nerve sheath tumors reveals susceptibilities to immunotherapy
ConclusionsTranscriptomic analysis of TCD and TCE signatures in MPNST samples reveals that a select subset of patients with MPNSTs may benefit from ICB immunotherapy. (Source: Journal of Neuro-Oncology)
Source: Journal of Neuro-Oncology - September 27, 2023 Category: Cancer & Oncology Source Type: research
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
Eur J Med Genet. 2023 Sep 24:104847. doi: 10.1016/j.ejmg.2023.104847. Online ahead of print.ABSTRACTThe finding of variants of uncertain significance (VUS) in the activity of a diagnostic genetic laboratory is a common issue, which is however provisional and needs to be periodically re-evaluated, due to the continuous advancements in our knowledge of the genetic diseases. Neurofibromatosis type 1, caused by the occurrence of heterozygous pathogenic NF1 variants, is a good model for studying the evolution of VUS, due to the widespread use of genetic testing for the disease, the constant enrichment of the international datab...
Source: European Journal of Medical Genetics - September 26, 2023 Category: Genetics & Stem Cells Authors: Davide Martorana Valeria Barili Vera Uliana Enrico Ambrosini Matteo Riva Erika De Sensi Elena Luppi Corinne Messina Edoardo Caleffi Francesco Pisani Antonio Percesepe Source Type: research
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
Eur J Med Genet. 2023 Sep 24:104847. doi: 10.1016/j.ejmg.2023.104847. Online ahead of print.ABSTRACTThe finding of variants of uncertain significance (VUS) in the activity of a diagnostic genetic laboratory is a common issue, which is however provisional and needs to be periodically re-evaluated, due to the continuous advancements in our knowledge of the genetic diseases. Neurofibromatosis type 1, caused by the occurrence of heterozygous pathogenic NF1 variants, is a good model for studying the evolution of VUS, due to the widespread use of genetic testing for the disease, the constant enrichment of the international datab...
Source: European Journal of Medical Genetics - September 26, 2023 Category: Genetics & Stem Cells Authors: Davide Martorana Valeria Barili Vera Uliana Enrico Ambrosini Matteo Riva Erika De Sensi Elena Luppi Corinne Messina Edoardo Caleffi Francesco Pisani Antonio Percesepe Source Type: research
Hybrid Schwannoma/Neurofibroma of the Neck: A Case Report
We present a case of a 51-year-old female patient with a neck hybrid schwannoma/neurofibroma diagnosed by histopathology and immunohistochemistry. The patient was referred to the neurology department for neurofibromatosis screening, which reported negative results. After 12 months, the patient showed no evidence of tumor recurrence.PMID:37747125 | DOI:10.1177/01455613231200834 (Source: Ear, Nose and Throat Journal)
Source: Ear, Nose and Throat Journal - September 25, 2023 Category: ENT & OMF Authors: Wei-Ting Kao Chia-Ying Chu Kuang-Hsuan Shen Source Type: research
< em > NF1 < /em > alterations in cancers: therapeutic implications in precision medicine
Expert Opin Investig Drugs. 2023 Sep 25. doi: 10.1080/13543784.2023.2263836. Online ahead of print.ABSTRACTINTRODUCTION: NF1 is a tumor suppressor gene encoding neurofibromin, an inhibitor of the RAS/MAPK and PI3K-AKT-mTOR signaling pathways. NF1 germline pathogenic variants cause the tumor predisposition syndrome neurofibromatosis type 1. Targeted therapies (MEK inhibitors) have been approved for benign nerve sheath tumors in neurofibromatosis type 1 patients. NF1 somatic alterations are present in ~ 5% of all human sporadic cancers. In melanomas, acute myeloid leukemias and lung adenocarcinomas, the NF1 somatic alteratio...
Source: Expert Opinion on Investigational Drugs - September 25, 2023 Category: Drugs & Pharmacology Authors: Jean-St éphane Giraud Ivan Bi èche Éric Pasmant Camille Tlemsani Source Type: research
Hybrid Schwannoma/Neurofibroma of the Neck: A Case Report
We present a case of a 51-year-old female patient with a neck hybrid schwannoma/neurofibroma diagnosed by histopathology and immunohistochemistry. The patient was referred to the neurology department for neurofibromatosis screening, which reported negative results. After 12 months, the patient showed no evidence of tumor recurrence.PMID:37747125 | DOI:10.1177/01455613231200834 (Source: Ear, Nose and Throat Journal)
Source: Ear, Nose and Throat Journal - September 25, 2023 Category: ENT & OMF Authors: Wei-Ting Kao Chia-Ying Chu Kuang-Hsuan Shen Source Type: research
< em > NF1 < /em > alterations in cancers: therapeutic implications in precision medicine
Expert Opin Investig Drugs. 2023 Sep 25. doi: 10.1080/13543784.2023.2263836. Online ahead of print.ABSTRACTINTRODUCTION: NF1 is a tumor suppressor gene encoding neurofibromin, an inhibitor of the RAS/MAPK and PI3K-AKT-mTOR signaling pathways. NF1 germline pathogenic variants cause the tumor predisposition syndrome neurofibromatosis type 1. Targeted therapies (MEK inhibitors) have been approved for benign nerve sheath tumors in neurofibromatosis type 1 patients. NF1 somatic alterations are present in ~ 5% of all human sporadic cancers. In melanomas, acute myeloid leukemias and lung adenocarcinomas, the NF1 somatic alteratio...
Source: Expert Opinion on Investigational Drugs - September 25, 2023 Category: Drugs & Pharmacology Authors: Jean-St éphane Giraud Ivan Bi èche Éric Pasmant Camille Tlemsani Source Type: research
Single-cell RNA sequencing of neurofibromas reveals a tumor microenvironment favorable for neural regeneration and immune suppression in a neurofibromatosis type 1 porcine model
Neurofibromatosis Type 1 (NF1) is one of the most common genetically inherited disorders that affects 1 in 3000 children annually. Clinical manifestations vary widely but nearly always include the development of cutaneous, plexiform and diffuse neurofibromas that are managed over many years. Recent single-cell transcriptomics profiling efforts of neurofibromas have begun to reveal cell signaling processes. However, the cell signaling networks in mature, non-cutaneous neurofibromas remain unexplored. Here, we present insights into the cellular composition and signaling within mature neurofibromas, contrasting with normal ad...
Source: Frontiers in Oncology - September 25, 2023 Category: Cancer & Oncology Source Type: research
Erratum
Existing and Developing Preclinical Models for Neurofibromatosis Type 1 –Related Cutaneous Neurofibromas. 10.1016/j.jid.2023.01.042 (JID-2022-0695/JID_3803) (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - September 25, 2023 Category: Dermatology Tags: Erratum Source Type: research
Multiple GIST and pheochromocytoma - a rare association in neurofibromatosis type 1
We describe a case of coexistence of multiple gastrointestinal stromal tumors (GIST) and pheochromocytoma in a 32-year-old patient with neurofibromatosis type 1. The coexistence of these two conditions in patients with this syndrome is extremely rare.PMID:37732354 | DOI:10.17235/reed.2023.9927/2023 (Source: Revista Espanola de Enfermedades Digestivas)
Source: Revista Espanola de Enfermedades Digestivas - September 21, 2023 Category: Gastroenterology Authors: Maria Manuela Estevinho Jo ão Varanda Rolando Pinho Fernando Viveiros Susana Gra ça Carlos Soares Ant ónia Póvoa Manuel Oliveira Source Type: research
Coexistence of small bowel gastrointestinal stromal tumor, small bowel adenocarcinoma, and ganglioneuroma in a patient with neurofibromatosis type I and caused intussusception
We report a synchronous case of small bowel gastrointestinal stromal tumor, small bowel adenocarcinoma, and ganglioneuroma complicated by intussusception in an old woman with NF-I. The patient presented with a 2-month history of abdominal pain and multiple neurofibromas and café au lait macules was found all over the patient's body. The enhanced computed tomography revealed a terminal ileal tumor which was significantly enhanced with secondary intussusception. The tumor of the ileum was considered to be NF-I-associated intestinal neurofibroma.Postoperative pathology and immunohistochemistry showed that the terminal ileoce...
Source: Revista Espanola de Enfermedades Digestivas - September 21, 2023 Category: Gastroenterology Authors: Yazhuo Zhao Liangrong Shi Source Type: research
Multiple GIST and pheochromocytoma - a rare association in neurofibromatosis type 1
We describe a case of coexistence of multiple gastrointestinal stromal tumors (GIST) and pheochromocytoma in a 32-year-old patient with neurofibromatosis type 1. The coexistence of these two conditions in patients with this syndrome is extremely rare.PMID:37732354 | DOI:10.17235/reed.2023.9927/2023 (Source: Revista Espanola de Enfermedades Digestivas)
Source: Revista Espanola de Enfermedades Digestivas - September 21, 2023 Category: Gastroenterology Authors: Maria Manuela Estevinho Jo ão Varanda Rolando Pinho Fernando Viveiros Susana Gra ça Carlos Soares Ant ónia Póvoa Manuel Oliveira Source Type: research
