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


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. . Clear cell cytology is multifocally present, and occasionally small vacuoles are present within the cytoplasm giving a microcystic appearance (Fig.1B) . 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 

Recurrent KMT2C or TSC2 gene mutations have been reported.6 but not VHL mutations.7


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
6326041682020Acquired Cystic Kidney Disease-associated Renal Cell Carcinoma (ACKD-RCC) Harbor Recurrent Mutations in KMT2C and TSC2 Genes.Shah A et al
729517201987[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: