Abstract Details

Title Whole-exome sequencing shows no specific mutation in ovarian teratoma of NMDAR-antibody encephalitis

Topic Autoimmune Neurology

Presentation(s) P5 - Poster Session 5 (11:45 AM-12:45 PM)

Poster/Presentation
Number 6-003

Objective To investigate mutations specific to the N-methyl-D-aspartate receptor (NMDAR)-associated teratoma to reveal the autoimmunity mechanism

Background N-methyl-D-aspartate receptor (NMDAR)-antibody encephalitis is the most common form of autoimmune encephalitis, about 40% of which is caused by ovarian teratoma. However, it is unknown why only a small population of ovarian teratoma causes the autoimmunity while the majority of the teratoma don’t. This study aimed to investigate any driver mutations specific to the NMDAR-associated teratoma to reveal the autoimmunity mechanism.

Design/Methods We included 17 ovarian teratomas derived from 15 patients with NMDAR-antibody encephalitis and 18 control ovarian teratoma from 30 patients without encephalitis. All the samples were genotyped by the SureSelect V6-Post Exome Capture kit (Agilent, CA, USA). The exome data were analyzed with R version 4.06 (Vienna, Austria) and the MUTALISK program (National cancer center, Goyang-si, Korea).

Results The two groups with and without NMDAR-antibody encephalitis had a mean age of 23.9 and 24.4 years, respectively. The average teratoma size was smaller in the group with encephalitis (3.0±2.1 cm vs 10.9±2.1, respectively). With the criteria lower than 1% of allele frequency with 1000 genome phase 3 (1000Gp3) and the Exome Aggregation Consortium (ExAC), 34 exomes were passed in our samples. Of these, no exome showed significantly different mutations between the groups of teratoma with and without NMDAR-antibody encephalitis. From the MUTALISK analysis, there was no significant difference in the mutation pattern signature in exomes between the two groups.

Conclusions This study shows that there is no difference in the mutation profile in protein-coding genes between the ovarian teratoma causing NMDAR-antibody encephalitis and the control teratoma. This result implies that post-transcriptional immune pathogeneses are involved in the autoimmune recognition of ovarian teratoma with NMDAR-antibody encephalitis.

Authors/Disclosures
Soo Hyun Ahn, MD (Seoul National University Hospital) PRESENTER	Dr. Ahn has nothing to disclose.
Yoonhyuk Jang, MD, PhD	Mr. Jang has nothing to disclose.
	No disclosure on file
Kyung Il Park	No disclosure on file
Sang Kun Lee, MD (Seoul national University Hospital)	Prof. Lee has nothing to disclose.
Kon Chu (Seoul National University Hospital)	Kon Chu has nothing to disclose.
	No disclosure on file
	No disclosure on file
Soon-Tae Lee, MD, PhD (Department of Neurology, Seoul National University Hospital)	Prof. Lee has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Advanced Neural Technologies. Prof. Lee has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Piehealthcare. Prof. Lee has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Salted. Prof. Lee has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche/Genentech. Prof. Lee has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for argenx. Prof. Lee has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Arialys. The institution of Prof. Lee has received research support from Roche. Prof. Lee has received intellectual property interests from a discovery or technology relating to health care.

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