Publications by authors named "R D Laitt"
Article Synopsis
- New diagnostic criteria for NF2-related schwannomatosis were established in 2022, leading to an updated prevalence study in the UK, which focused on the rate of de novo NF2 cases.
- A total of 1,084 living NF2 patients were identified, indicating a prevalence of 1 in 61,332, with a striking 72% of cases being de novo, many of which were mosaic.
- The findings also revealed that nonsense variants were most common (24.8%), while missense variants had a higher familial association (56%), emphasizing the importance of patient databases for accurate genetic counseling.
Objective: The aim of this study was to describe the natural history of incidental benign-appearing notochordal lesions of the skull base with specific attention to features that can make differentiation from low-grade chordoma more difficult, namely contrast uptake and bone erosion.
Methods: In this retrospective case series, the authors describe the clinical outcomes of 58 patients with incidental benign-appearing notochordal lesions of the clivus, including those with minor radiological features of bone erosion or contrast uptake.
Results: All lesions remained stable during a median follow-up of almost 3 years.
Article Synopsis
- The study examines the safety of radiation treatment for benign tumors in patients with NF2-related schwannomatosis, finding an increased risk of subsequent malignancies or malignant progression in those who received radiation compared to untreated patients.
- Out of 1345 NF2 patients studied, 266 received radiation, leading to a malignancy rate of approximately 6%, as opposed to less than 1% in those not treated with radiation.
- The findings suggest that NF2 patients should not receive radiation as the first treatment option for benign tumors due to the associated risks and should be informed about the significant risk of developing new malignancies.
Objective: Preoperative differentiation of facial nerve schwannoma (FNS) from vestibular schwannoma (VS) can be challenging, and failure to differentiate between these two pathologies can result in potentially avoidable facial nerve injury. This study presents the combined experience of two high-volume centers in the management of intraoperatively diagnosed FNSs. The authors highlight clinical and imaging features that can distinguish FNS from VS and provide an algorithm to help manage intraoperatively diagnosed FNS.
View Article and Find Full Text PDFThis study explores the natural history of vestibular, trigeminal and lower cranial nerve schwannomas (VS, TS, LCNS) in patients with Neurofibromatosis type 2 (NF2), to understand how pathogenic variants (PVs) of the NF2 gene affect tumour burden and growth rate, via a retrospective analysis of a UK NF2 centre database and imaging. VS, TS and LCNS location and size were measured in accordance with a standardised protocol. PVs were categorised in accordance with the UK NF2 Genetic Severity Score (GSS).
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