Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 26, 2021; 9(27): 8120-8126
Published online Sep 26, 2021. doi: 10.12998/wjcc.v9.i27.8120
Paraneoplastic focal segmental glomerulosclerosis associated with gastrointestinal stromal tumor with cutaneous metastasis: A case report
Jun Zhou, Zhen Yang, Cui-Shun Yang, Hua Lin
Jun Zhou, Zhen Yang, Cui-Shun Yang, Department of Nephrology and Rheumatology, Haikou People’s Hospital Affiliated to Xiangya School of Medicine of Central South University, Haikou 570208, Hainan Province, China
Hua Lin, Department of Nursing, Haikou Affiliated Hospital of Central South University Xiangya School of Medicine, Haikou 570208, Hainan Province, China
Author contributions: Zhou J wrote the manuscript, conducted the literature review, and participated in paper submission and revision; Yang Z, Yang CS, and Lin H participated in the clinical care of the patient; all authors assisted with the interpretation of the results and manuscript revision, and read and approved the final manuscript.
Supported by the Hainan Provincial Natural Science Foundation of China, No. 820RC785; and the Healthy Department of Hainan Province, No. 2001320243A2011.
Informed consent statement: Written informed consent was obtained from the patient. A copy of the consent form is available for review and can be provided on request.
Conflict-of-interest statement: The authors declare that they have no competing interests to report.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hua Lin, BM BCh, Nurse, Department of Nursing, Haikou Affiliated Hospital of Central South University Xiangya School of Medicine, No. 43 Renmin Road, Haidian Island, Haikou 570208, Hainan Province, China. 2894993270@qq.com
Received: April 3, 2021
Peer-review started: April 3, 2021
First decision: July 15, 2021
Revised: July 25, 2021
Accepted: August 5, 2021
Article in press: August 5, 2021
Published online: September 26, 2021
Abstract
BACKGROUND

Gastrointestinal stromal tumor (GIST) with cutaneous metastasis is very rare. As a result, cutaneous GISTs have not been well characterized. Focal segmental glomerulosclerosis (FSGS) is also a rare symptom among paraneoplastic nephritic syndromes (PNS).

CASE SUMMARY

In this case report, we describe a patient with cutaneous metastatic GIST accompanied by nephrotic syndrome occurring as a malignancy-associated PNS, for whom symptomatic treatment was ineffective, but clinical remission was achieved after surgery. Moreover, the patient has a missense mutation in NPHP4, which can explain the occurrences of GIST and FSGS in this patient and indicates that the association is not random.

CONCLUSION

This is the first reported case of a GIST with cutaneous metastasis accompanied by nephrotic syndrome manifesting as a PNS.

Keywords: Gastrointestinal stromal tumors, Cutaneous metastasis, Paraneoplastic nephritic syndromes, NPHP4, CD34, DOG1, Case report

Core Tip: This paper reports the case of patient with cutaneous metastatic gastrointestinal stromal tumor accompanied by nephrotic syndrome occurring as a malignancy-associated paraneoplastic nephritic syndromes. Moreover, the patient has a missense mutation in NPHP4. A review of other relevant cases from the literature is presented, and the potential challenges, treatment, and prognosis are discussed.