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Shi et al. Neuroimmunol Neuroinflammation 2020;7:68-72 I http://dx.doi.org/10.20517/2347-8659.2019.16 Page 71

and EPPK1 (the method utilized here showed that the sensitivity, specificity, and diagnostic coincidence
rate in diagnosing cancer of the central nervous system were 83.64%, 76.32%, and 80.65%, respectively, but
the related article has not been published yet). Many of them have gained great attention in cancer studies.
[12]
For example, TSC2 was reported to be related to sporadic pulmonary lymphangioleiomyomatosis .
The interaction between NSD1 and FLT3/ITD mutations determines the poor outcome of acute myeloid
[13]
leukemia patients . Aberrant expression of CRLF2, associated with mutated JAK2, was found to underlie
[14]
the occurrence of acute lymphoblastic leukemia in Down syndrome . CIC mutation is among the most
[15]
studied of these genes, and has been well established to be tumorigenic in glioblastoma . Hence, we
hypothesize that the certain mutations found in this case may be related to SCLC with PCD, possibly
mediated by the production of anti-CV2 antibodies.

Moreover, in this case, modest efficacy was initially achieved employing a treatment regimen utilizing
a combination of dexamethasone and rituximab; however, there was no more significant clinical
improvement achieved after the second treatment. A similar scenario was reported in a prior report about
a patient presenting with PCD associated with squamous cell carcinoma of the tongue. A likely mechanism
to account for this could be the irreversible neuronal tissue damage or the failure to normalize the cellular
[16]
dysfunction caused by anti-CV2 antibodies in the long term . Therefore, it calls for an alternative method
of treatment for these patients targeting high anti-CV2 antibodies or their causative mutations.

Above all, our findings reveal certain mutations that might be related to PCD associated with SCLC to
accomplish ultra-early diagnosis. To fulfill this goal, researchers need to overcome several challenges
including analysis and interpretation of the sequencing data to understand the underlying mechanisms.
Although this field is still in its infancy, pathogenesis, diagnosis, treatment, and prevention of cancer based
on somatic mutations deserve more attention.

DECLARATIONS
Acknowledgments
We are grateful to Yining Yang (department of neurology, Xijing Hospital) for technical support and
valuable comments on the manuscript.

Authors’ contributions
Conception and design of the study: Zhao G, Du F
Performed data acquisition and provided technical and material support: Wu R, He Y
Performed data analysis and interpretation and drafted the work: Shi XD, Li Y
Read and approved the final manuscript: Shi XD, Li Y, He Y, Wu R, Du F, Zhao G

Availability of data and materials
The data and material could be available to readers upon request.

Financial support and sponsorship
The work was supported by National Key Research and Development Program of China (No.
2016YFC0904500) and Shanxi National Science Foundation (No. 2018kw-15).

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
Our research proposal has been reviewed and approved by the Independent Ethics Committee (I.E.C.),
First Affiliated Hospital of Fourth Military Medical University on 19 May 2016. Number of ethics approval
is No. KY20163367-1. The written informed consent was obtained from the patient.