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Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy
E Pasmant1, C Louvrier2, A Luscan1
1EA7331, faculté de pharmacie de Paris, université Paris Descartes, Sorbonne Paris Cité, Paris, France; Service de biochimie et de génétique moléculaire, hôpital Cochin, AP-HP, Paris, France.
Neuro-Chirurgie
|June 16, 2015
Summary
A comprehensive analysis of 221 French patients with Neurofibromatosis type 2 (NF2) identified mutations in 25% of cases. Optimized techniques improved mutation detection rates, particularly for typical NF2 patients.
Area of Science:
- Genetics
- Oncology
- Rare Diseases
Background:
- Neurofibromatosis type 2 (NF2) is a rare genetic disorder affecting approximately 1 in 25,000 to 40,000 individuals.
- Most NF2 patients harbor private loss-of-function mutations within the NF2 gene.
- Accurate genetic diagnosis is crucial for patient management and understanding disease mechanisms.
Purpose of the Study:
- To present an optimized NF2 investigation strategy for comprehensive mutation analysis.
- To determine the mutation detection rate in a cohort of French NF2 patients.
- To evaluate the effectiveness of different molecular techniques in identifying NF2 variants.
Main Methods:
- A cohort of 221 French NF2 patients was analyzed, including 134 fulfilling Manchester criteria and 87 with partial symptoms.
- Comprehensive mutation analysis involved coding exon sequencing and multiplex ligation-dependent probe amplification (MLPA).
- Frozen tumor samples were utilized for improved somatic mosaicism detection.
Main Results:
- A global mutation detection rate of 25% (56/221) was achieved.
- The detection rate was higher in typical NF2 patients (37%) compared to those with suggestive symptoms (8%).
- Coding exon sequencing identified 77% of NF2 variants, while MLPA detected 23% of rearrangements (deletions/duplications).
Conclusions:
- High mutation detection rates in NF2 are achievable with well-phenotyped patients and optimized, complementary molecular techniques.
- The study highlights the importance of combining sequencing and MLPA for comprehensive NF2 genetic analysis.
- Improved detection of NF2 somatic mosaicism was noted through molecular analysis of frozen tumor samples.
