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Shi et al. Neuroimmunol Neuroinflammation 2020;7:68-72 Neuroimmunology
DOI: 10.20517/2347-8659.2019.16 and Neuroinflammation

Case Report Open Access

Paraneoplastic cerebellar degeneration associated
with somatic mutations in ultra-early diagnosis of

small cell lung cancer: a case report

Xiao-Dan Shi , Yi Li , Ying He, Rui Wu, Fang Du, Gang Zhao
#
#
Department of Neurology, Xijing Hospital, the Fourth Military Medical University, Xi’an 710032, Shaanxi, China.
# Authors contributed equally.

Correspondence to: Dr. Fang Du, Department of Neurology, Xijing Hospital, the Fourth Military Medical University, Xi’an
710032, Shaanxi, China. E-mail: dufang@fmmu.edu.cn; Dr. Gang Zhao, Department of Neurology, Xijing Hospital, the Fourth
Military Medical University, Xi’an 710032, Shaanxi, China. E-mail: zhaogang@fmmu.edu.cn

How to cite this article: Shi XD, Li Y, He Y, Wu R, Du F, Zhao G. Paraneoplastic cerebellar degeneration associated with somatic
mutations in ultra-early diagnosis of small cell lung cancer: a case report. Neuroimmunol Neuroinflammation 2020;7:68-72.
http://dx.doi.org/10.20517/2347-8659.2019.16
Received: 16 Nov 2019 First Decision: 10 Jan 2020 Revised: 19 Jan 2020 Accepted: 3 Feb 2020 Published: 21 Mar 2020

Science Editor: Salvadeeswaran Meenakshi-Sundaram Copy Editor: Jing-Wen Zhang Production Editor: Tian Zhang

Abstract
Paraneoplastic cerebellar degeneration (PCD) can occur in patients with underlying cancer, such as small cell lung cancer
(SCLC). Anti-CV2/CRMP5 antibodies are well-established biomarkers of PCD associated with SCLC, but cannot be
detected in most situations. Recently, next-generation sequencing has been a promising technology to discover cancer-
driven mutations, which provide an alternative strategy to accomplish ultra-early diagnosis of those patients. Here, we
report the case of a 75-year-old man diagnosed with SCLC, who primarily presented with anti-CV2/CRMP5 antibodies
positive PCD. Eight high-frequency gene mutations (TSC2, DNMT1, CIC, FGF6, NSD1, TSHR, CRLF2, and EPPK1) were
detected 7 months before diagnosis with no abnormalities of imaging or cerebrospinal fluid examination found initially.
Therefore, this case suggests the possibility of detecting certain somatic mutations for the ultra-early diagnosis of
patients presenting with PCD associated with SCLC.

Keywords: Paraneoplastic cerebellar degeneration, small cell lung cancer, next-generation sequencing, ultra-early
diagnosis

INTRODUCTION
As an autoimmune-mediated complication of cancer, paraneoplastic cerebellar degeneration (PCD) is
[1]
associated with tumors such as lung cancer, gynecologic and breast cancers, and Hodgkin lymphoma .
© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

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