Acquired cystic disease associated renal cell carcinoma: A clinicopathologic and molecular study of 31 tumors
Recommended Citation
Palathingal Bava E, Sanfrancesco JM, Alkashash A, Favazza L, Aldilami A, Williamson SR, Cheng L, Idrees MT, and Al-Obaidy KI. Acquired cystic disease associated renal cell carcinoma: A clinicopathologic and molecular study of 31 tumors. Hum Pathol 2024; 149:48-54.
Document Type
Article
Publication Date
7-1-2024
Publication Title
Human pathology
Abstract
Acquired cystic disease associated renal cell carcinomas (ACD-RCC) are rare and their molecular and histopathological characteristics are still being explored. We therefore investigated the clinicopathologic and molecular characteristics of 31 tumors. The patients were predominantly male (n = 30), with tumors mainly left-sided (n = 17), unifocal (n = 19), and unilateral (n = 29) and a mean tumor size of 25 mm (range, 3-65 mm). Microscopically, several histologic patterns were present, including pure classic sieve-like (n = 4), and varied proportions of mixed classic sieve-like with papillary (n = 23), tubulocystic (n = 9), compact tubular (n = 4) and solid (n = 1) patterns. Calcium-oxalate crystals were seen in all tumors. Molecular analysis of 9 tumors using next generation sequencing showed alterations in SMARCB1 in 3 tumors (1 with frameshift deletion and 2 with copy number loss in chromosome 22 involving SMARCB1 region), however, INI1 stain was retained in all. Nonrecurrent genetic alterations in SETD2, NF1, NOTCH4, BRCA2 and CANT1 genes were also seen. Additionally, MTOR p.Pro351Ser was identified in one tumor. Copy number analysis showed gains in chromosome 16 (n = 5), 17 (n = 2) and 8 (n = 2) as well as loss in chromosome 22 (n = 2). In summary, ACD-RCC is a recognized subtype of kidney tumors, with several histological architectural patterns. Our molecular data identifies genetic alterations in chromatin modifying genes (SMARCB1 and SETD2), which may suggest a role of such genes in ACD-RCC development.
Medical Subject Headings
Humans; Male; Carcinoma, Renal Cell; Kidney Neoplasms; Female; Middle Aged; Aged; Adult; Kidney Diseases, Cystic; Biomarkers, Tumor; Aged, 80 and over; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing
PubMed ID
38862094
Volume
149
First Page
48
Last Page
54
