Integrating tractography in pelvic surgery: a proof of concept
ConclusionsThis clinical case validates the ability of pelvic tractography to deliver a proper imaging of the sacral nervous network and emphasizes the potential usefulness of this approach in pelvic surgery management, with perspectives of image-guided surgery.
In this study we present bioinformatical and functional characterization of two novel splicing NF1 variants, detected in NF1 patients. Patient 1, carring NF1:c.122A>T, which introduces a new exonic 5' donor splice site, was diagnosed with hormone positive, Her-2 negative breast cancer at the age of 47. She had an atypical presentation of NF1, with few café-au-lait spots and no Lisch nodules. ShePatient developed a hemothorax due to subclavian artery rupture, which has previously been described as an extremely rare complication of NF1. Patient 2, carring NF1:c.7395-17T>G that creates a new intronic 3' acceptor ...
Gauthier Muller Béatrice Parfait Michel Vidaud Brigitte Gilbert-Dussardier Catherine Yardin Benjamin Dauriat Christian Derancourt Dominique Vidaud Eric Pasmant Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, which may explain the outbreak of independent de novo variants in the same family. Here, we report the co-occurrence of pathogenic variants in t...
Our patient is a 12-year-old girl with history of leptomeningeal glioneuronal tumors, hydrocephalus with ventriculoperitoneal shunt, seizure disorder, and intellectual delay. Multiple caf é-au-lait patches and axillary freckling led to diagnosis of neurofibromatosis-1 in early childhood; however, subsequent genetic testing failed to confirm the diagnosis. At age 9, she was referred to dermatology for onset of several firm dermal nodules on her torso and proximal extremities, which w ere biopsied revealing cutaneous granular cell tumors (GCTs).
Cutaneous neurofibromas (cNF) are complex tumors of the skin in individuals with neurofibromatosis type 1 (NF1), a syndrome affecting approximately 1:3,000 persons worldwide. There are no drug therapies for these tumors, and current treatment is limited to various procedure-based approaches. A critical need in conducting meaningful translational studies of these tumors is to have high quality tissue samples representing the diversity of human cutaneous tumors. Multiple challenges exist, including a lack of standardized sample collection or analysis protocols, non-universal terminology for cNF, different methods for the rem...
Conclusion: With a CBR of 12% (3/25), the combination of everolimus and bevacizumab did not reach the study's target response rate and is not considered active in refractory MPNST. PMID: 31427883 [PubMed]
We report this case for its rarity an d peculiar mode of morphologic and immunohistochemical presentation.
We report a case of a 73-year-old man with PHEO in whom genetic testing revealed a large pathogenic heterozygous deletion of 1.14 Mb encompassing the entire coding sequence of the NF1 gene while the patient showed no signs of clinical NF1.This case illustrates that the diagnosis of NF1 should not be excluded in patients with PHEO in the absence of clinical diagnosis of the disease and support that older patients with PHEO should also be offered genetic counselling.
The article An update on the CNS manifestations of neurofibromatosis type 2, written by Shannon Coy, Rumana Rashid, Anat Stemmer ‑Rachamimov and Sandro Santagata, was originally published electronically on the publisher’s internet portal (currently SpringerLink) on 04 June 2019 without open access.
ConclusionsBevacizumab may arrest both tumor progression and hearing loss in select NF2 patients presenting with VS lesions. However, a considerable proportion of patients are anticipated to experience serious adverse events; correspondingly, judicious use of bevacizumab for symptomatic management of VS in NF2 is recommended.