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Journal of Peking University (Health Sciences) ›› 2026, Vol. 58 ›› Issue (4): 700-706. doi: 10.19723/j.issn.1671-167X.2026.04.004

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Clinicopathological and molecular features of acquired cystic kidney disease and associated renal cell carcinoma

Haijing LIU1,2, Wenyang GUO2, Shunan SHI2, Huiying HE1,2,*()   

  1. 1. Department of Pathology, Peking University School of Basic Medical Sciences, Beijing 100191, China
    2. Department of Pathology, Peking University Third Hospital, Beijing 100191, China
  • Received:2026-03-02 Online:2026-08-18 Published:2026-05-18
  • Contact: Huiying HE
  • Supported by:
    the National Key Research and Development Program of China(2024YFA1014101)

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Abstract:

Objective: To investigate the clinicopathological and genetic features of acquired cystic kidney disease (ACKD) and secondary renal cell carcinoma (RCC) in end-stage renal disease (ESRD) patients undergoing dialysis. Methods: The clinicopathological data of 9 patients with ACKD, of whom, 7 had concurrent RCC, of the Department of Pathology, Peking University Third Hospital from 2020 to 2025 were retrospectively analyzed. Immunohistochemistry (IHC) and next-generation sequencing (NGS) were used to detect RCC-related proteins and targeted-drug associated gene variations/microsatellite instability (MSI) status. Results: The 9 patients were all male, aged 29-64 years. Causes of ESRD included hypertension, IgA nephropathy, chronic glomerulonephritis, and diabetes. Dialysis duration ranged from 1 to 30 years (median 9.0 years), and 3 patients had kidney transplantation history. Imaging showed reduced kidney size and multiple cysts, including complex cysts. Solid lesions were found in the cyst wall of 5 patients with secondary RCC. The maximum diameter of tumors was 1.3-7.0 cm (median 3.0 cm). Histologically, except for typical morphological changes of ACKD and atypical renal cysts, some cases had papillary adenoma and hemorrhage. Six ACKD-associated RCC (ACKD-RCC) patients and 1 papillary RCC (pRCC) patient were diagnosed. Most ACKD-RCC tumor cells had eosinophilic cytoplasm; 5 patients predominantly showed papillary structure, and 1 patient mainly presented sieve-cystic with acinar/solid/micropapillary structures. Oxalate crystals were found in all ACKD-RCC cases, and most patients were accompanied by necrosis and calcification. P504S and CK7 were diffusely or focally positive in all the cases, while CAⅨ was negative. The World Health Organization/International Society of Urological Pathology (WHO/ISUP) nuclear grading of ACKD-RCC and pRCC were 2-3 and 3-4, respectively. Pathological staging of 5 RCC patients was pT1 and of the other 2 patients was pT3a. NGS results identified one PIK3CA point mutation and SETD2 deletion in one ACKD-RCC patient and the pRCC patient, which were accompanied by marked necrosis and pT3a staging. The RCC patients were regularly followed up for 1-32 months postoperatively without additional treatment, and no recurrence or metastasis was observed. Conclusion: ACKD is a common complication in ESRD patients undergoing dialysis. In our cohort, ACKD-RCC was predominantly characterized by papillary architecture histologically with oxalate crystals in all cases. Immunohistochemically, P504S and CK7 were positive. Regardless of secondary occurrent tumor, atypical renal cysts were present in all ACKD cases in this study. NGS detected PIK3CA and SETD2 (Tier Ⅱ) variants in 2 RCC patients, respectively, accompanied by coagulative necrosis and advanced pathological stage, which may indicate a poor prognosis. This study suggests that imaging screening for RCC should be strengthened in young and middle-aged male ESRD patients with long-term dialysis, and adequate sample examination should be performed to detect potentially precancerous lesions, such as atypical renal cysts. The prognosis of ACKD-RCC requires comprehensive analysis combining clinicopathological and molecular genetic features.

Key words: End-stage renal disease, Kidney diseases, cystic, Renal cell carcinoma, Clinical pathology

CLC Number: 

  • R737.11

Table 1

Clinical characteristics of 9 cases with acquired cystic kidney disease and associated RCC"

Case Gender Age/years Etiologies of CKD Dialysis time/years Location Imaging Treatment Follow-up/months
1 Male 29 Hypertension 4 Left Multiple bilateral renal cysts with calcification, complex cyst of left kidney LRN 33
2 Male 34 GN 10 Bilateral Multiple bilateral renal cysts with hemorrhage LRN 30
3 Male 64 Hypertension 30 Left Multiple bilateral renal cysts, complex cyst with solid nodule of left kidney LRN 24
4 Male 46 IgAN 7 Right Multiple bilateral renal cysts with solid nodule of right kidney LRN+RPLND 11
5 Male 39 DKD 5.5 Left Multiple bilateral renal cysts, complex cyst with solid nodule of left kidney LRN 7
6 Male 45 GN 10 Left Multiple bilateral renal cysts with hemorrhage and solid nodule of left kidney LRN 1
7 Male 60 Hypertension 9 Left Multiple bilateral renal cysts, complex cyst with solid nodule of left kidney LRN+RPLND 2
8 Male 51 IgAN 1 Bilateral Multiple bilateral renal cysts LRN 31
9 Male 54 NA 10 Left Multiple bilateral renal cysts with hematoma of left kidney LRN 36

Figure 1

Morphological and IHC characteristics of ACKD and accompanied RCC A, ACKD-RCC, tumor cells show abundant eosinophilic cytoplasm with papillary structure and oxalate crystals in stroma (HE ×200); B, ACKD-RCC, tumor cells show abundant eosinophilic cytoplasm forming glandular structure, accompanied by abundant oxalate crystals (HE ×100); C, ACKD-RCC, tumor cells exhibit clear cytoplasm, arranged in solid/glandular pattern (HE ×200); D, ACKD-RCC, tumor cells show abundant eosinophilic cytoplasm, arranged in microcystic or cribriform pattern (HE ×100); E, pRCC, tumor cells show eosinophilic cytoplasm with papillary structure (HE ×200); F, minimal oncocytic papillary adenoma (HE ×200); G, ACKD-RCC, atypical renal cyst adjacent to ACKD-RCC with oxalate crystals in the cyst wall (HE ×200); H, ACKD, atypical renal cyst has atypical cells with clear or eosinophilic cytoplasm in cyst wall with micropapillary structure (HE ×100); I, ACKD-RCC, focal positive expression of CK7 (IHC ×100); J, ACKD-RCC, diffuse positive expression of P504S (IHC ×200). ACKD, acquired cystic kidney disease; RCC, renal cell carcinoma; ACKD-RCC, ACKD-associated RCC; pRCC, papillary RCC; HE, hematoxylin-eosin; IHC, immunohistochemistry."

Table 2

Pathological characteristics of 9 cases with acquired cystic kidney disease and associated RCC"

Case Number of tumors Diameter/cm Histology WHO/ISUP grading Necrosis Oxalate crystals Calcification pT stage Concurrent lesions
1 1 3 ACKD-RCC 2-3 Yes Yes No T1 Atypical renal cysts
2 2 2.5, 1.3* ACKD-RCC 2-3 Yes Yes Yes, No T1 Atypical renal cysts and papillary adenoma
3 7 3.5# ACKD-RCC 3 Yes Yes Yes T1 Atypical renal cysts
4 1 2.4 ACKD-RCC 3 No Yes Yes T1 Atypical renal cysts
5 1 3.8 ACKD-RCC 3 Yes Yes Yes T1 Atypical renal cysts
6 1 7 ACKD-RCC Yes Yes Yes T3a Atypical renal cysts
7 1 3 ACKD, pRCC 3-4 Yes No Yes T3a Atypical renal cysts
8 ACKD No No Yes Atypical renal cysts and papillary adenoma
9 ACKD No No No Atypical renal cysts
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