Case Report: A False Negative Case of Anti-Yo Paraneoplastic Myelopathy.

Autor: Bartley CM; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States.; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA, United States., Parikshak NN; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States.; Department of Neurology, University of California, San Francisco, San Francisco, CA, United States., Ngo TT; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States.; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA, United States., Alexander JA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States.; Department of Neurology, University of California, San Francisco, San Francisco, CA, United States., Zorn KC; Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA, United States., Alvarenga BA; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States.; Department of Neurology, University of California, San Francisco, San Francisco, CA, United States., Kang MK; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States.; Department of Neurology, University of California, San Francisco, San Francisco, CA, United States., Pedriali M; Operative Unit of Surgical Pathology, Azienda Ospedaliera-Universitaria, Ferrara, Italy., Pleasure SJ; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States.; Department of Neurology, University of California, San Francisco, San Francisco, CA, United States., Wilson MR; Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, United States.; Department of Neurology, University of California, San Francisco, San Francisco, CA, United States.
Jazyk: angličtina
Zdroj: Frontiers in neurology [Front Neurol] 2021 Oct 22; Vol. 12, pp. 728700. Date of Electronic Publication: 2021 Oct 22 (Print Publication: 2021).
DOI: 10.3389/fneur.2021.728700
Abstrakt: The development of autoimmune antibody panels has improved the diagnosis of paraneoplastic neurological disorders (PNDs) of the brain and spinal cord. Here, we present a case of a woman with a history of breast cancer who presented with a subacute sensory ataxia that progressed over 18 months. Her examination and diagnostic studies were consistent with a myelopathy. Metabolic, infectious, and autoimmune testing were non-diagnostic. However, she responded to empirical immunosuppression, prompting further workup for an autoimmune etiology. An unbiased autoantibody screen utilizing phage display immunoprecipitation sequencing (PhIP-Seq) identified antibodies to the anti-Yo antigens cerebellar degeneration related protein 2 like (CDR2L) and CDR2, which were subsequently validated by immunoblot and cell-based overexpression assays. Furthermore, CDR2L protein expression was restricted to HER2 expressing tumor cells in the patient's breast tissue. Recent evidence suggests that CDR2L is likely the primary antigen in anti-Yo paraneoplastic cerebellar degeneration, but anti-Yo myelopathy is poorly characterized. By immunostaining, we detected neuronal CDR2L protein expression in the murine and human spinal cord. This case demonstrates the diagnostic utility of unbiased assays in patients with suspected PNDs, supports prior observations that anti-Yo PND can be associated with isolated myelopathy, and implicates CDR2L as a potential antigen in the spinal cord.
Competing Interests: MW receives unrelated research support from Roche/Genentech. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2021 Bartley, Parikshak, Ngo, Alexander, Zorn, Alvarenga, Kang, Pedriali, Pleasure and Wilson.)
Databáze: MEDLINE