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Paraneoplastic focal segmental glomerulosclerosis associated with gastrointestinal stromal tumor with cutaneous
Jun Zhou1, Zhen Yang1, Cui-Shun Yang1
1Department of Nephrology and Rheumatology, Haikou People's Hospital Affiliated to Xiangya School of Medicine of Central South University, Haikou 570208, Hainan Province, China.
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.
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