Clear cell renal cell carcinoma with focal psammomatous calcifications: a rare occurrence mimicking translocation carcinoma
Language English Country England, Great Britain Media print-electronic
Document type Journal Article
Grant support
Henry Ford Health System
PubMed
36564980
DOI
10.1111/his.14854
Knihovny.cz E-resources
- Keywords
- TFE3, TFEB, TRIM63, clear cell renal cell carcinoma, psammoma bodies,
- MeSH
- Chromosome Aberrations MeSH
- Calcinosis * MeSH
- Carcinoma, Renal Cell * pathology MeSH
- Humans MeSH
- Biomarkers, Tumor genetics MeSH
- Kidney Neoplasms * pathology MeSH
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors genetics MeSH
- Translocation, Genetic MeSH
- Check Tag
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- Biomarkers, Tumor MeSH
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors MeSH
AIMS: Renal cell carcinoma (RCC) with clear cells and psammoma-like calcifications would often raise suspicion for MITF family translocation RCC. However, we have rarely encountered tumours consistent with clear cell RCC that contain focal psammomatous calcifications. METHODS AND RESULTS: We identified clear cell RCCs with psammomatous calcifications from multiple institutions and performed immunohistochemistry and fluorescence and RNA in-situ hybridisation (FISH and RNA ISH). Twenty-one tumours were identified: 12 men, nine women, aged 45-83 years. Tumour size was 2.3-14.0 cm (median = 6.75 cm). Nucleolar grade was 3 (n = 14), 2 (n = 4) or 4 (n = 3). In addition to clear cell pattern, morphology included eosinophilic (n = 12), syncytial giant cell (n = 4), rhabdoid (n = 2), branched glandular (n = 1), early spindle cell (n = 1) and poorly differentiated components (n = 1). Labelling for CA9 was usually 80-100% of the tumour cells (n = 17 of 21), but was sometimes decreased in areas of eosinophilic cells (n = 4). All (19 of 19) were positive for CD10. Most (19 of 20) were positive for AMACR (variable staining = 20-100%). Staining was negative for keratin 7, although four showed rare positive cells (four of 20). Results were negative for cathepsin K (none of 19), melan A (none of 17), HMB45 (none of 17), TFE3 (none of 5), TRIM63 RNA ISH (none of 13), and TFE3 (none of 19) and TFEB rearrangements (none of 12). Seven of 19 (37%) showed chromosome 3p deletion. One (one of 19) showed trisomy 7 and 17 without papillary features. CONCLUSIONS: Psammomatous calcifications in RCC with a clear cell pattern suggests a diagnosis of MITF family translocation RCC; however, psammomatous calcifications can rarely be found in true clear cell RCC.
Biopticka Laboratory Plzen Czech Republic
Brown University Warren Albert Medical School Providence RI USA
Cleveland Clinic Cleveland OH USA
El Camino Hospital Mountain View CA USA
H Lee Moffitt Cancer Center and Research Institute Tampa FL USA
Henry Ford Health System Detroit MI USA
Mexican Oncology Hospital SXXI IMSS Mexico City Mexico
Stanford Medicine Stanford University Stanford CA USA
University of California San Francisco CA USA
University of Michigan Ann Arbor MI USA
See more in PubMed
Argani P, Laé M, Hutchinson B et al. Renal carcinomas with the t(6;11)(p21;q12): clinicopathologic features and demonstration of the specific alpha-TFEB gene fusion by immunohistochemistry, RT-PCR, and DNA PCR. Am. J. Surg. Pathol. 2005; 29; 230-240.
Argani P, Olgac S, Tickoo SK et al. Xp11 translocation renal cell carcinoma in adults: expanded clinical, pathologic, and genetic spectrum. Am. J. Surg. Pathol. 2007; 31; 1149-1160.
Argani P, Hicks J, De Marzo AM et al. Xp11 translocation renal cell carcinoma (RCC): extended immunohistochemical profile emphasizing novel RCC markers. Am. J. Surg. Pathol. 2010; 34; 1295-1303.
Argani P. Translocation carcinomas of the kidney. Genes Chromosomes Cancer 2022; 61; 219-227.
Liu N, Qu F, Wei K et al. Incidence and significance of psammoma bodies in Xp11.2 translocation renal cell carcinoma and papillary renal cell carcinoma. Oncol. Lett. 2019; 18; 472-478.
Skala SL, Xiao H, Udager AM et al. Detection of 6 TFEB-amplified renal cell carcinomas and 25 renal cell carcinomas with MITF translocations: systematic morphologic analysis of 85 cases evaluated by clinical TFE3 and TFEB FISH assays. Mod Pathol 2018; 31; 179-197.
Wang XM, Zhang Y, Mannan R et al. TRIM63 is a sensitive and specific biomarker for MiT family aberration-associated renal cell carcinoma. Mod Pathol 2021; 34; 1596-1607.
Williamson SR, Grignon DJ, Cheng L et al. Renal cell carcinoma with chromosome 6p amplification including the TFEB gene: a novel mechanism of tumor pathogenesis? Am. J. Surg. Pathol. 2017; 41; 287-298.
Xia QY, Wang XT, Zhan XM et al. Xp11 translocation renal cell carcinomas (RCCs) with RBM10-TFE3 gene fusion demonstrating melanotic features and overlapping morphology with t(6;11) RCC: interest and diagnostic pitfall in detecting a paracentric inversion of TFE3. Am. J. Surg. Pathol. 2017; 41; 663-676.
Cheng L, MacLennan GT, Zhang S et al. Evidence for polyclonal origin of multifocal clear cell renal cell carcinoma. Clin. Cancer Res. 2008; 14; 8087-8093.
Gobbo S, Eble JN, Maclennan GT et al. Renal cell carcinomas with papillary architecture and clear cell components: the utility of immunohistochemical and cytogenetical analyses in differential diagnosis. Am. J. Surg. Pathol. 2008; 32; 1780-1786.
Rao Q, Williamson SR, Zhang S et al. TFE3 break-apart FISH has a higher sensitivity for Xp11.2 translocation-associated renal cell carcinoma compared with TFE3 or cathepsin K immunohistochemical staining alone: expanding the morphologic spectrum. Am. J. Surg. Pathol. 2013; 37; 804-815.
Delahunt B, Eble JN. Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors. Mod. Pathol. 1997; 10; 537-544.
Hes O, Vanecek T, Perez-Montiel DM et al. Chromophobe renal cell carcinoma with microcystic and adenomatous arrangement and pigmentation--a diagnostic pitfall. Morphological, immunohistochemical, ultrastructural and molecular genetic report of 20 cases. Virchows Arch. 2005; 446; 383-393.
Trpkov K, Hes O, Bonert M et al. Eosinophilic, solid, and cystic renal cell carcinoma: clinicopathologic study of 16 unique, sporadic neoplasms occurring in women. Am. J. Surg. Pathol. 2016; 40; 60-71.
Argani P, Reuter VE, Eble JN et al. Biphasic hyalinizing psammomatous renal cell carcinoma (BHP RCC): a distinctive neoplasm associated with somatic NF2 mutations. Am J Surg Pathol 2020; 44; 901-916.
Paintal A, Tjota MY, Wang P et al. NF2-mutated renal carcinomas have common morphologic features which overlap with biphasic hyalinizing psammomatous renal cell carcinoma: a comprehensive study of 14 cases. Am J Surg Pathol 2022; 46; 617-627.
Wang G, Amin MB, Grossmann P et al. Renal cell tumor with sex-cord/gonadoblastoma-like features: analysis of 6 cases. Virchows Arch. 2022; 480; 349-358.
Camparo P, Vasiliu V, Molinie V et al. Renal translocation carcinomas: clinicopathologic, immunohistochemical, and gene expression profiling analysis of 31 cases with a review of the literature. Am. J. Surg. Pathol. 2008; 32; 656-670.
Akgul M, Williamson SR. Immunohistochemistry for the diagnosis of renal epithelial neoplasms. Semin. Diagn. Pathol. 2022; 39; 1-16.
Hayes M, Peckova K, Martinek P et al. Molecular-genetic analysis is essential for accurate classification of renal carcinoma resembling Xp11.2 translocation carcinoma. Virchows Arch. 2015; 466; 313-322.
Xiao X, Hu R, Deng FM, Shen SS, Yang XJ, Wu CL. Practical applications of immunohistochemistry in the diagnosis of genitourinary tumors. Arch. Pathol. Lab. Med. 2017; 141; 1181-1194.
Akgul M, Williamson SR, Ertoy D et al. Diagnostic approach in TFE3-rearranged renal cell carcinoma: a multi-institutional international survey. J. Clin. Pathol. 2021; 74; 291-299.
Gaillot-Durand L, Chevallier M, Colombel M et al. Diagnosis of Xp11 translocation renal cell carcinomas in adult patients under 50 years: interest and pitfalls of automated immunohistochemical detection of TFE3 protein. Pathol Res Pract 2013; 209; 83-89.
Kuroda N, Katto K, Tanaka Y et al. Diagnostic pitfall on the histological spectrum of adult-onset renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions. Med. Mol. Morphol. 2010; 43; 86-90.
Yang B, Duan H, Cao W et al. Xp11 translocation renal cell carcinoma and clear cell renal cell carcinoma with TFE3 strong positive immunostaining: morphology, immunohistochemistry, and FISH analysis. Mod Pathol 2019; 32; 1521-1535.
Green WM, Yonescu R, Morsberger L et al. Utilization of a TFE3 break-apart FISH assay in a renal tumor consultation service. Am. J. Surg. Pathol. 2013; 37; 1150-1163.
Argani P, Zhang L, Reuter VE, Tickoo SK, Antonescu CR. RBM10-TFE3 renal cell carcinoma: a potential diagnostic pitfall due to cryptic intrachromosomal Xp11.2 inversion resulting in false-negative TFE3 FISH. Am. J. Surg. Pathol. 2017; 41; 655-662.
Brunelli M, Fiorentino M, Gobbo S et al. Many facets of chromosome 3p cytogenetic findings in clear cell renal carcinoma: the need for agreement in assessment FISH analysis to avoid diagnostic errors. Histol Histopathol 2011; 26; 1207-1213.