Acquired cystic disease-associated renal cell carcinoma

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

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

Keywords
Acquired cystic kidney disease, End-stage renal disease, Kidney transplantation, KMT2C mutation, TSC2 mutation

Classification

Definition

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

Epidemiology

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).

Histopathology

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).

Cytogenetics

Prognosis and treatment

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

Genetics

Genetics

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


Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors

Citation

Michelle S. Hirsch ; Paola Dal Cin

Acquired cystic disease-associated renal cell carcinoma

Atlas Genet Cytogenet Oncol Haematol. 2021-07-09

Online version: http://atlasgeneticsoncology.org/solid-tumor/208926/gene-fusions-explorer/haematological-explorer/img/logo-atlas-4.svg