Comprehensive Review of Numerical Chromosomal Aberrations in Chromophobe Renal Cell Carcinoma Including Its Variant Morphologies.
Journal
Advances in anatomic pathology
ISSN: 1533-4031
Titre abrégé: Adv Anat Pathol
Pays: United States
ID NLM: 9435676
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
pubmed:
7
10
2020
medline:
7
4
2021
entrez:
6
10
2020
Statut:
ppublish
Résumé
Chromophobe renal cell carcinoma (ChRCC) accounts for 5% to 7% of all renal cell carcinomas. It was thought for many years that ChRCC exhibits a hypodiploid genome. Recent studies using advanced molecular genetics techniques have shown more complex and heterogenous pattern with frequent chromosomal gains. Historically, multiple losses of chromosomes 1, 2, 6, 10, 13, 17, and 21 have been considered a genetic hallmark of ChRCC, both for classic and eosinophilic ChRCC variants. In the last 2 decades, multiple chromosomal gains in ChRCCs have also been documented, depicting a considerably broader genetic spectrum than previously thought. Studies of rare morphologic variants including ChRCC with pigmented microcystic adenomatoid/multicystic growth, ChRCC with neuroendocrine differentiation, ChRCC with papillary architecture, and renal oncocytoma-like variants also showed variable chromosomal numerical aberrations, including multiple losses (common), gains (less common), or chromosomal changes overlapping with renal oncocytoma. Although not the focus of the review, The Cancer Genome Atlas (TCGA) data in ChRCC show TP53, PTEN, and CDKN2A to be the most mutated genes. Given the complexity of molecular genetic alterations in ChRCC, this review analyzed the existing published data, aiming to present a comprehensive up-to-date survey of the chromosomal abnormalities in classic ChRCC and its variants. The potential role of chromosomal numerical aberrations in the differential diagnostic evaluation may be limited, potentially owing to its high variability.
Identifiants
pubmed: 33021507
doi: 10.1097/PAP.0000000000000286
pii: 00125480-202101000-00002
doi:
Substances chimiques
Biomarkers, Tumor
0
PTEN Phosphohydrolase
EC 3.1.3.67
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
8-20Références
Thoenes W, Storkel S, Rumpelt HJ. Human chromophobe cell renal carcinoma. Virchows Arch B Cell Pathol Incl Mol Pathol. 1985;48:207–217.
Amin MB, Paner GP, Alvarado-Cabrero I, et al. Chromophobe renal cell carcinoma: histomorphologic characteristics and evaluation of conventional pathologic prognostic parameters in 145 cases. Am J Surg Pathol. 2008;32:1822–1834.
Thoenes W, Storkel S, Rumpelt HJ, et al. Chromophobe cell renal carcinoma and its variants—a report on 32 cases. J Pathol. 1988;155:277–287.
Peckova K, Martinek P, Ohe C, et al. Chromophobe renal cell carcinoma with neuroendocrine and neuroendocrine-like features. Morphologic, immunohistochemical, ultrastructural, and array comparative genomic hybridization analysis of 18 cases and review of the literature. Ann Diagn Pathol. 2015;19:261–268.
Michal M, Hes O, Svec A, et al. Pigmented microcystic chromophobe cell carcinoma: a unique variant of renal cell carcinoma. Ann Diagn Pathol. 1998;2:149–153.
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.
Dundr P, Pesl M, Povysil C, et al. Pigmented microcystic chromophobe renal cell carcinoma. Pathol Res Pract. 2007;203:593–597.
Kuroda N, Tamura M, Hes O, et al. Chromophobe renal cell carcinoma with neuroendocrine differentiation and sarcomatoid change. Pathol Int. 2011;61:552–554.
Parada DD, Pena KB. Chromophobe renal cell carcinoma with neuroendocrine differentiation. APMIS. 2008;116:859–865.
Michalova K, Tretiakova M, Pivovarcikova K, et al. Expanding the morphologic spectrum of chromophobe renal cell carcinoma: a study of 8 cases with papillary architecture. Ann Diagn Pathol. 2019;44:151448.
Beck SD, Patel MI, Snyder ME, et al. Effect of papillary and chromophobe cell type on disease-free survival after nephrectomy for renal cell carcinoma. Ann Surg Oncol. 2004;11:71–77.
Przybycin CG, Cronin AM, Darvishian F, et al. Chromophobe renal cell carcinoma: a clinicopathologic study of 203 tumors in 200 patients with primary resection at a single institution. Am J Surg Pathol. 2011;35:962–970.
Ohashi R, Martignoni G, Hartmann A, et al. Multi-institutional re-evaluation of prognostic factors in chromophobe renal cell carcinoma: proposal of a novel two-tiered grading scheme. Virchows Arch. 2020;476:409–418.
Delahunt B, Cheville JC, Martignoni G, et al. Members of the ISUP Renal Tumor Panel. The International Society of Urological Pathology (ISUP) grading system for renal cell carcinoma and other prognostic parameters. Am J Surg Pathol. 2013;37:1490–1504.
Paner GP, Amin MB, Alvarado-Cabrero I, et al. A novel tumor grading scheme for chromophobe renal cell carcinoma: prognostic utility and comparison with Fuhrman nuclear grade. Am J Surg Pathol. 2010;34:1233–1240.
Iqbal MA, Akhtar M, Ali MA. Cytogenetic findings in renal cell carcinoma. Hum Pathol. 1996;27:949–954.
Kovacs A, Kovacs G. Low chromosome number in chromophobe renal cell carcinomas. Genes Chromosomes Cancer. 1992;4:267–268.
Speicher MR, Schoell B, du Manoir S, et al. Specific loss of chromosomes 1, 2, 6, 10, 13, 17, and 21 in chromophobe renal cell carcinomas revealed by comparative genomic hybridization. Am J Pathol. 1994;145:356–364.
Brunelli M, Gobbo S, Cossu-Rocca P, et al. Chromosomal gains in the sarcomatoid transformation of chromophobe renal cell carcinoma. Mod Pathol. 2007;20:303–309.
Tan MH, Wong CF, Tan HL, et al. Genomic expression and single-nucleotide polymorphism profiling discriminates chromophobe renal cell carcinoma and oncocytoma. BMC Cancer. 2010;10:196.
Vieira J, Henrique R, Ribeiro FR, et al. Feasibility of differential diagnosis of kidney tumors by comparative genomic hybridization of fine needle aspiration biopsies. Genes Chromosomes Cancer. 2010;49:935–947.
Kovacs G, Soudah B, Hoene E. Binucleated cells in a human renal cell carcinoma with 34 chromosomes. Cancer Genet Cytogenet. 1988;31:211–215.
Kovacs A, Storkel S, Thoenes W, et al. Mitochondrial and chromosomal DNA alterations in human chromophobe renal cell carcinomas. J Pathol. 1992;167:273–277.
Crotty TB, Lawrence KM, Moertel CA, et al. Cytogenetic analysis of six renal oncocytomas and a chromophobe cell renal carcinoma. Evidence that -Y, -1 may be a characteristic anomaly in renal oncocytomas. Cancer Genet Cytogenet. 1992;61:61–66.
van den Berg E, van der Hout AH, Oosterhuis JW, et al. Cytogenetic analysis of epithelial renal-cell tumors: relationship with a new histopathological classification. Int J Cancer. 1993;55:223–227.
Gerharz CD, Moll R, Storkel S, et al. Establishment and characterization of two divergent cell lines derived from a human chromophobe renal cell carcinoma. Am J Pathol. 1995;146:953–962.
Shuin T, Kondo K, Sakai N, et al. A case of chromophobe renal cell carcinoma associated with low chromosome number and microsatellite instability. Cancer Genet Cytogenet. 1996;86:69–71.
Gunawan B, Bergmann F, Braun S, et al. Polyploidization and losses of chromosomes 1, 2, 6, 10, 13, and 17 in three cases of chromophobe renal cell carcinomas. Cancer Genet Cytogenet. 1999;110:57–61.
Brunelli M, Eble JN, Zhang S, et al. Eosinophilic and classic chromophobe renal cell carcinomas have similar frequent losses of multiple chromosomes from among chromosomes 1, 2, 6, 10, and 17, and this pattern of genetic abnormality is not present in renal oncocytoma. Mod Pathol. 2005;18:161–169.
Meyer PN, Cao Y, Jacobson K, et al. Chromosome 1 analysis in chromophobe renal cell carcinomas with tissue microarray (TMA)-facilitated fluorescence in situ hybridization (FISH) demonstrates loss of 1p/1 which is also present in renal oncocytomas. Diagn Mol Pathol. 2008;17:141–144.
Kim HJ, Shen SS, Ayala AG, et al. Virtual-karyotyping with SNP microarrays in morphologically challenging renal cell neoplasms: a practical and useful diagnostic modality. Am J Surg Pathol. 2009;33:1276–1286.
Brunelli M, Delahunt B, Gobbo S, et al. Diagnostic usefulness of fluorescent cytogenetics in differentiating chromophobe renal cell carcinoma from renal oncocytoma: a validation study combining metaphase and interphase analyses. Am J Clin Pathol. 2010;133:116–126.
Kuroda N, Tamura M, Hes O, et al. Chromophobe renal cell carcinoma with prominent lymph node metastasis and polysomy of chromosome 21: poorly differentiated form or “presarcomatoid” form? Med Mol Morphol. 2011;44:168–173.
Sperga M, Martinek P, Vanecek T, et al. Chromophobe renal cell carcinoma—chromosomal aberration variability and its relation to Paner grading system: an array CGH and FISH analysis of 37 cases. Virchows Arch. 2013;463:563–573.
Davis CF, Ricketts CJ, Wang M, et al. The Cancer Genome Atlas Research Network. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014;26:319–330.
Kang XL, Zou H, Pang LJ, et al. Chromosomal imbalances revealed in primary renal cell carcinomas by comparative genomic hybridization. Int J Clin Exp Pathol. 2015;8:3636–3647.
Ren Y, Liu K, Kang X, et al. Chromophobe renal cell carcinoma with and without sarcomatoid change: a clinicopathological, comparative genomic hybridization, and whole-exome sequencing study. Am J Transl Res. 2015;7:2482–2499.
Ohashi R, Schraml P, Angori S, et al. Classic chromophobe renal cell carcinoma incur a larger number of chromosomal losses than seen in the eosinophilic subtype. Cancers (Basel). 2019;11:1492.
Bugert P, Kovacs G. Molecular differential diagnosis of renal cell carcinomas by microsatellite analysis. Am J Pathol. 1996;149:2081–2088.
Verdorfer I, Hobisch A, Hittmair A, et al. Cytogenetic characterization of 22 human renal cell tumors in relation to a histopathological classification. Cancer Genet Cytogenet. 1999;111:61–70.
Yusenko MV, Kovacs G. Identifying CD82 (KAI1) as a marker for human chromophobe renal cell carcinoma. Histopathology. 2009;55:687–695.
Yusenko MV, Kuiper RP, Boethe T, et al. High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas. BMC Cancer. 2009;9:152.
Yokomizo A, Yamamoto K, Furuno K, et al. Histopathologic subtype-specific genomic profiles of renal cell carcinomas identified by high-resolution whole-genome single nucleotide polymorphism array analysis. Oncol Lett. 2010;1:1073–1078.
Bugert P, Gaul C, Weber K, et al. Specific genetic changes of diagnostic importance in chromophobe renal cell carcinomas. Lab Invest. 1997;76:203–208.
Renshaw AA, Henske EP, Loughlin KR, et al. Aggressive variants of chromophobe renal cell carcinoma. Cancer. 1996;78:1756–1761.
Casuscelli J, Weinhold N, Gundem G, et al. Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma. JCI Insight. 2017;2:e92688.
Liu YJ, Ussakli C, Antic T, et al. Sporadic oncocytic tumors with features intermediate between oncocytoma and chromophobe renal cell carcinoma: comprehensive clinico-pathological and genomic profiling. Hum Pathol. 2020;104:18–29.
Foix MP, Dunatov A, Martinek P, et al. Morphological, immunohistochemical, and chromosomal analysis of multicystic chromophobe renal cell carcinoma, an architecturally unusual challenging variant. Virchows Arch. 2016;469:669–678.
Ohe C, Kuroda N, Matsuura K, et al. Chromophobe renal cell carcinoma with neuroendocrine differentiation/morphology: a clinicopathological and genetic study of three cases. Hum Pathol Case Rep. 2014;1:31–39.
Mokhtar GA, Al-Zahrani R. Chromophobe renal cell carcinoma of the kidney with neuroendocrine differentiation: a case report with review of literature. Urol Ann. 2015;7:383–386.
Kuroda N, Tanaka A, Yamaguchi T, et al. Chromophobe renal cell carcinoma, oncocytic variant: a proposal of a new variant giving a critical diagnostic pitfall in diagnosing renal oncocytic tumors. Med Mol Morphol. 2013;46:49–55.
Gutierrez FJQ, Panizo A, Tienza A, et al. Cytogenetic and immunohistochemical study of 42 pigmented microcystic chromophobe renal cell carcinoma (PMChRCC). Virchows Arch. 2018;473:209–217.
Akhtar M, Chantziantoniou N. Quantitative image cell analysis of cytologic smears for DNA ploidy in renal parenchymal neoplasms. Diagn Cytopathol. 1999;21:223–229.
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.
Kato I, Iribe Y, Nagashima Y, et al. Fluorescent and chromogenic in situ hybridization of CEN17q as a potent useful diagnostic marker for Birt-Hogg-Dube syndrome-associated chromophobe renal cell carcinomas. Hum Pathol. 2016;52:74–82.
Linehan WM, Ricketts CJ. The Cancer Genome Atlas of renal cell carcinoma: findings and clinical implications. Nat Rev Urol. 2019;16:539–552.
Ruiz-Cordero R, Rao P, Li L, et al. Hybrid oncocytic/chromophobe renal tumors are molecularly distinct from oncocytoma and chromophobe renal cell carcinoma. Mod Pathol. 2019;32:1698–1707.
Iribe Y, Yao M, Tanaka R, et al. Genome-wide uniparental disomy and copy number variations in renal cell carcinomas associated with Birt-Hogg-Dube syndrome. Am J Pathol. 2016;186:337–346.
Ricketts CJ, De Cubas AA, Fan H, et al. Cancer Genome Atlas Research Network. The Cancer Genome Atlas Comprehensive molecular characterization of renal cell carcinoma. Cell Rep. 2018;23:3698.