Acquired cystic disease-associated renal cell carcinoma

2021-07-09   Michelle S. Hirsch , Paola Dal Cin 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)



Acquired cystic disease (ACD)-associated renal cell carcinoma (RCC) is the most common tumour in patients with acquired cystic kidney disease (ACKD) in end-stage renal disease (ESRD)

Clinics and Pathology


<1% of renal tumors, only diagnosed in the context of patients with ACKD due to ESRD (~30% of cases)1. The incidence of ACD-associated RCC increases with duration of dialysis and in patients who have undergone kidney transplantation 2,3.

Clinical features

Incidentally diagnosed on radiologic follow-up in patients with chronic renal disease, or at the time of nephrectomy/transplantation.

Macroscopic apperances

Solitary or multifocal, and sometimes bilateral, well circumscribed tumor(s), also in association with atypical cysts (Fig.1A), adenomas, or other additional renal neoplasms (ie, papillary RCC).


The tumors have a yellow to tan cut surface and a variable growth patterns; however, papillary, solid, cystic and sieve-like features predominant. Tumors are often eosinophilic with intermixed multifocal clear cell cytology (Fig.1B), and occasionally small vacuoles are present within the cytoplasm giving a microcystic appearance. Oxalate crystal deposits (Fig.1C) are frequently seen in areas of neoplasia as well as in the non-neoplastic tissue 2. In contrast to papillary RCC, most ACD-associated RCCs are CK7 negative.

Fig 1: Acquired cystic disease-associated RCC occurs in the setting of acquired cystic and chronic end stage kidney disease. The tumor presents as a mass in an atrophic kidney often with multiple cortical cysts (A, gross image). The tumor has heterogeneous morphologic findings including solid, papillary, cystic and sieve-like growth patterns and eosinophilic to focally clear cell cytology (B). Although not required for the diagnosis, oxalate crystals are often seen within the tumor (C).



Although genetic data are limited, microarray and FISH analyses have revealed relatively frequent numerical abnormalities of chromosomes 3 and 16 along with gains of chromosomes 7 and 17 2,4,5. Mutations in the VHL gene have not been identified in these tumors 6.

Recurrent mutations mainly in the KMT2C gene, especially in cases with cribriform u201csieve-like morphology, with mutations in TSC2 been the second common abnormality, often coexisting with KMT2C mutations. Single non recurrent mutation in additional genes but always coexisted with mutations in KMT2C or TSC2 {32604168


Prognosis and treatment

Indolent clinical behavior, but occasionally can metastasize if a high-grade tumor with sarcomatous or rhabdoid features


Reference NumberPubmed IDLast YearTitleAuthors
1164348872006Spectrum of epithelial neoplasms in end-stage renal disease: an experience from 66 tumor-bearing kidneys with emphasis on histologic patterns distinct from those in sporadic adult renal neoplasia.Tickoo SK et al
2283533762017Acquired Cystic Disease-Associated Renal Cell Carcinoma: Review of Pathogenesis, Morphology, Ancillary Tests, and Clinical Features.Foshat M et al
3301875812018Acquired cystic disease-associated renal cell carcinoma is the most common subtype in long-term dialyzed patients: Central pathology results according to the 2016 WHO classification in a multi-institutional study.Kondo T et al
4212677002010Acquired cystic disease-associated renal cell carcinoma with gain of chromosomes 3, 7, and 16, gain of chromosome X, and loss of chromosome Y.Kuroda N et al
5217511532011Review of acquired cystic disease-associated renal cell carcinoma with focus on pathobiological aspects.Kuroda N et al
629517201987[Benign monoclonal immunoglobulin G associated with Hashimoto's thyroiditis, not disappearing after thyroidectomy].Heim M et al

External Links


Michelle S. Hirsch ; Paola Dal Cin

Acquired cystic disease-associated renal cell carcinoma

Atlas Genet Cytogenet Oncol Haematol. 2021-07-09

Online version: