Phenotypic characterization of patients with Hu-Abs, including the different neurological presentation and the presence or not of an underlying cancer. Analysis and clinical correlation of the diagnostic techniques for Hu-Abs detection (immunofluorescence, immunodot/Western blot, and CBA) in serum and/or CSF. Genomic and transcriptomic features of tumors (histological and immune infiltrate characteristics, transcriptomic profile, mutational status).
Study Type
OBSERVATIONAL
Enrollment
400
This observationnal study involves clinical data and bio. samples (DNA and tumors block). Demographic and clinical data already in French Reference Center on PNS database will be reviewed. Additional data will be obtained from the referral physicians. The results of diagnostic tests performed to detect Hu-Abs in the patients are already in this database and will be retrospectively analyzed. In addition, the 4 available techniques (immunofluorescence, commercial immunodot, Western blot, and CBA) will be performed from Jan. 2022 to Dec. 2022.Tumor samples from 2 cohorts will be analyzed: (i) tumors of patients with Hu-Abs and PNS, and (ii) tumors of patients without PNS (mostly SCLC). After selecting patients, the study will involve 3 steps: (i) pathological confirmation; (ii) DNA sequencing and CNV analysis (panel of genes involved in anti-Hu autoimmunity; mainly ELAVL1 to 4, encoding for HuA to HuD, the 4 main proteins of the Hu family); and (iii) whole-genome RNA sequencing.
Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites autoimmunes
Lyon, France
Modified Rankin Scale (mRs)
Application of modified rankin scale
Time frame: At 1 year
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