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@PHDTHESIS{Malapit:295844,
author = {J. Malapit$^*$},
title = {{I}nsights into {A}utoimmune {M}echanisms and the
{P}athogenic {R}ole of {T}umor-{I}nfiltrating {B} {C}ells in
{Y}o-{A}ssociated {P}araneoplastic {C}erebellar
{D}egeneration},
school = {Universität Heidelberg},
type = {Dissertation},
publisher = {Heidelberg University Library},
reportid = {DKFZ-2024-02661},
year = {2024},
note = {Dissertation, Universität Heidelberg, 2024},
abstract = {Paraneoplastic cerebellar degeneration (PCD) is an
autoimmune neurological disorder that impairs motor function
through the immune-mediated death of cerebellar neurons. PCD
is frequently diagnosed among ovarian or breast cancer
patients, where the tumor aberrantly expresses antigens
typically restricted to the cerebellum. Yo-associated PCD is
the most common subtype, characterized by serum- or
cerebrospinal fluid (CSF)-derived Yo antibodies. They serve
as a diagnostic marker, and prompts the search for an
associated tumor. Yo antibodies have been classically
defined to target the canonical Yo antigen Cerebellar
Degeneration-related protein 2 (CDR2), whose expression is
normally restricted to Purkinje cells of the cerebellum.
Much contention however exists surrounding the specificity
of these autoantibodies and their contribution to the
progression of the disorder. In my dissertation, I used
single-cell immunoglobulin sequencing to examine the
repertoire of tumor-infiltrating B cells and
antibody�secreting cells from an ovarian carcinoma patient
who presented with anti-Yo paraneoplastic cerebellar
degeneration (Yo-PCD). Here, I show across different
reactivity assays that CDR2L (Cerebellar Degeneration
Related Protein 2 Like), is also a target of Yo antibodies,
and may be the predominant Yo antigen. I also show that
these Yo antibodies are secreted by highly-activated and
somatically hypermutated antibody-secreting cells that
infiltrate the tumor, and likely derive from protracted
autoreactive germinal center responses. I could also show
that these Yo antibodies can be taken up by Purkinje cells
in vitro. Finally, I could show that after continuous
intrathecal delivery of monoclonal Yo antibodies in mice,
they are also taken up by Purkinje cells in vivo, and normal
motor function, evaluated through rotarod assays, is
affected. My results demonstrate that tumor-derived Yo
antibodies mainly target CDR2L, and have a potential
pathogenic contribution to the progression of Yo-PCD.
Resolving the relevant Yo antigen and dissecting the epitope
specificities of Yo autoantibodies may help improve the
diagnosis of this disorder, and the early detection of the
associated tumor. Furthermore, deeply characterizing Yo
autoantibodies and elucidating antibody-mediated pathogenic
mechanisms may fine-tune the prognosis for Yo-PCD, and
expand current paradigms for the role of antibodies
targeting intracellular antigens},
keywords = {570 Life sciences (Other)},
cin = {D130},
cid = {I:(DE-He78)D130-20160331},
pnm = {314 - Immunologie und Krebs (POF4-314)},
pid = {G:(DE-HGF)POF4-314},
typ = {PUB:(DE-HGF)11},
doi = {10.11588/HEIDOK.00035284},
url = {https://inrepo02.dkfz.de/record/295844},
}