NF1 mutation

P1, N=66, Recruiting, Zhongshan Hospital, Fudan University; Zhongshan Hospital, Fudan University

This case represents a rare occurrence of neurofibromatosis accompanied by diffuse intestinal ganglioneuromatosis. The discovery and reporting of this rare case enhance the clinical understanding of neurofibromatosis (particularly in terms of uncommon complications) and enrich the clinical spectrum of neurofibromatosis and its complications, offering new insights and approaches for future treatment of similar cases.

This case supports the association between JCS and NF1 and highlights the importance of genetic testing in differential diagnosis. This case report also provides a brief literature discussion on the very rare syndrome JCS.

The model was validated in 189 AML patients treated with HMA/VEN in first line. This clinical-molecular, 3-tiered venetoclax prognostic risk score (VEN-PRS) for HMA/VEN treatment outcomes in R/R AML patients will support the selection of appropriate treatment options in this high-risk population.

EP regimen remains the most effective chemotherapy option for neuroendocrine tumor patients. There were prognostic differences between NECs and MiNENs, as well as differences in genetic mutations and signaling pathways. This study provided new insights into the prognosis assessment and treatment strategies for NENs, particularly highlighting the importance of personalized treatments and the development of novel targeted therapies.

This study reveals that somatic mutations can exhibit distinct impacts on mRNA and protein levels, underscoring the necessity of integrating proteogenomic data to comprehensively identify functionally significant cancer mutations. These insights provide a framework for prioritizing mutations for further functional validation and therapeutic targeting.

In order to further standardize the clinical diagnosis and treatment of PNF, initiated by the Group of Neurofibromatosis, Plastic and Reconstructive Surgery Society of Chinese Medical Association, the experts and scholars from various disciplines within the NF1 field across China were organized. Finally, based on existing evidence-based medicine evidence, a total of 18 recommendations have been proposed for the diagnosis, screening, surgical treatment, pharmacological treatment, disease monitoring, as well as patient education and psychological support related to PNF, aiming to serve as a reference for the standardized clinical diagnosis and treatment of PNF.

This study will contribute to a better understanding of the phenotypic variability of neurofibromatosis patients. The variable expressivity seen in NF1 suggests that modifying genes may be involved in the development of particular clinical features in addition to NF1 mutations.

The patient was referred for genetic testing and a somatic mosaic mutation was found on the NF1 gene (c.4084C>T on the exon 30) with a variant allele frequency of 20%. This report highlights the role of near infrared reflectance imaging in the incidental finding of choroidal alterations, which led to the diagnosis of NF1 mosaicism.

RET pathogenic variant (p.Cys634Trp) associated with MEN2A syndrome was the most prevalent in Romanian population with PPGLs and could be considered as a founder effect. Patients with hereditary disease are diagnosed at a younger age and develop bilateral tumors more frequently compared to sporadic cases.

Based on our findings, we emphasise on the importance of searching for NS features in patients with NF1 since the prognosis, comorbidities and consequently management could be altered.

P1, N=100, Active, not recruiting, Taiho Oncology, Inc. | Recruiting --> Active, not recruiting | Trial primary completion date: Aug 2024 --> Apr 2025