Genetic alterations in renal cell carcinoma with rhabdoid differentiation

2015 ◽  
Vol 46 (1) ◽  
pp. 9-16 ◽  
Author(s):  
Carmen M. Perrino ◽  
Vishwanathan Hucthagowder ◽  
Michael Evenson ◽  
Shashikant Kulkarni ◽  
Peter A. Humphrey
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Genetic Alterations ◽  
Rhabdoid Differentiation

scholarly journals Precision Surgery and Kidney Cancer: Knowledge of Genetic Alterations Influences Surgical Management

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 261 ◽  
Author(s):  
Patrick T. Gomella ◽  
W. Linehan ◽  
Mark W. Ball
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Surgical Management ◽  
Kidney Cancer ◽  
Renal Cell ◽  
Management Strategies ◽  
Genetic Alterations ◽  
Cancer Knowledge ◽  
Biological Potential

Renal cell carcinoma is a term that represents multiple different disease processes, each driven by different genetic alterations, with distinct histology, and biological potential which necessitates divergent management strategies. This review discusses the genetic alterations seen in several forms of hereditary kidney cancer and how that knowledge can dictate when and how to intervene with a focus on the surgical management of these tumors.

scholarly journals Renal cell carcinoma with rhabdoid differentiation: A novel entity with immunohistochemical study

2016 ◽  
Vol 59 (4) ◽  
pp. 565
Author(s):  
AAil Divya ◽  
GSinai Kandheparkar Siddhi ◽  
RJoshi Avinash ◽  
DBhayekar Pallavi
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Immunohistochemical Study ◽  
Rhabdoid Differentiation

Birt-Hogg-Dubé Syndrome: Clinicopathologic Findings and Genetic Alterations

2006 ◽  
Vol 130 (12) ◽  
pp. 1865-1870 ◽  
Author(s):  
Brian P. Adley ◽  
Norm D. Smith ◽  
Ritu Nayar ◽  
Ximing J. Yang
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
English Literature ◽  
Clinical Manifestations ◽  
Genetic Alterations ◽  
Limited Information ◽  
Kidney Tumors ◽  
Pulmonary Cysts ◽  
Bhd Syndrome

Abstract Context.—Birt-Hogg-Dubé (BHD) syndrome is a rare clinicopathologic condition transmitted in an autosomal dominant fashion. This complex entity is characterized by cutaneous fibrofolliculomas, kidney tumors, pulmonary cysts, and spontaneous pneumothorax. Recently, the gene possibly responsible for the clinical manifestations of BHD syndrome has been cloned and characterized. The few reviews of BHD syndrome found in the English literature mostly focus on the skin lesions or genetics, with limited information on other pathologic changes, particularly the kidney lesions. Objective.—To review the literature on this subject with a special emphasis on BHD syndrome-associated renal pathology as well as recent advances in molecular genetic discovery of the BHD syndrome. Data Sources.—We used all data available after performing a literature search using MEDLINE and searching under the headings “Birt-Hogg-Dubé,” “hybrid oncocytic tumors,” and “folliculin.” Conclusions.—The presence of BHD syndrome should be investigated in any patient with multiple bilateral kidney tumors, especially if the predominant histologic type is chromophobe renal cell carcinoma or the so-called hybrid oncocytic tumor. The genetic alteration for BHD syndrome has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHD syndrome. The function of the BHD product, called folliculin, is still unknown, although it is speculated to be a tumor suppressor gene. Numerous mutations have been described in the BHD gene. Studies are ongoing to determine the relationship between the BHD gene and development of sporadic renal cell carcinoma and other lesions.

Impact of rhabdoid differentiation on postoperative outcome for patients with N0M0 renal cell carcinoma

2019 ◽  
Vol 37 (10) ◽  
pp. 711-720
Author(s):  
Hakushi Kim ◽  
Chie Inomoto ◽  
Takato Uchida ◽  
Hiroshi Kajiwara ◽  
Tomoyoshi Komiyama ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Postoperative Outcome ◽  
Rhabdoid Differentiation

The impact of rhabdoid differentiation on prognosis in patients with grade 4 renal cell carcinoma.

2015 ◽  
Vol 33 (7_suppl) ◽  
pp. 494-494
Author(s):  
Ben Yiming Zhang ◽  
John C. Cheville ◽  
Robert Houston Thompson ◽  
Stephen A. Boorjian ◽  
Christine M. Lohse ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Risk Of Death ◽  
Pathologic Features ◽  
Increased Risk ◽  
Grade 3 ◽  
Rhabdoid Differentiation ◽  
The Impact ◽  
Sarcomatoid Differentiation

494 Background: Renal cell carcinoma (RCC) with rhabdoid differentiation is thought to portend a poor prognosis, similar to RCC with sarcomatoid differentiation. Both rhabdoid and sarcomatoid differentiation are classified as grade 4 RCC based on the most recent International Society of Urological Pathology (ISUP) grading system. We sought to determine the prognostic value of rhabdoid differentiation in comparison to RCC with sarcomatoid differentiation, grade 4 RCC without rhabdoid or sarcomatoid differentiation, and grade 3 RCC. Methods: Using the Mayo Clinic Nephrectomy Registry, we identified 406 patients with ISUP grade 4 RCC and 1,758 patients with grade 3 RCC. A urologic pathologist reviewed all specimens to determine the presence of both rhabdoid and sarcomatoid differentiation. Associations of clinical and pathologic features with death from RCC were evaluated using Cox models. Results: Among the 406 grade 4 RCC tumors, 111 (27%) had rhabdoid differentiation and 189 (47%) had sarcomatoid differentiation, although only 28 (7%) demonstrated both rhabdoid and sarcomatoid differentiation. In multivariable analysis of grade 4 RCC tumors, the presence of rhabdoid differentiation was not associated with death from RCC (HR 0.95, p=0.75); in contrast, sarcomatoid differentiation was significantly associated with death from RCC (HR 1.63, p<0.001). Patients with RCC with rhabdoid differentiation were significantly more likely to die of RCC than patients with grade 3 RCC (HR 2.45, p<0.001) and grade 3 RCC with necrosis (HR 1.62; p<0.001). Conclusions: This study confirms that RCC with rhabdoid differentiation is appropriately classified as grade 4. However, unlike sarcomatoid differentiation, the presence of rhabdoid differentiation in grade 4 RCC is not associated with an increased risk of death from RCC. Therefore, rhabdoid and sarcomatoid differentiation should not be grouped together when assessing risk in a patient with grade 4 RCC.

Examination of genomic copy number alterations in renal cell carcinoma with sarcomatoid features.

2015 ◽  
Vol 33 (7_suppl) ◽  
pp. 478-478
Author(s):  
Timothy Ito ◽  
Jianming Pei ◽  
Essel Dulaimi ◽  
Craig Menges ◽  
Philip Abbosh ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Copy Number ◽  
Genetic Alterations ◽  
The Other ◽  
Copy Number Alterations ◽  
Genomic Copy Number ◽  
Genomic Copy ◽  
Sarcomatoid Differentiation

478 Background: Sarcomatoid differentiation is an uncommon histological finding in renal cell carcinoma (RCC) that may develop from any RCC subtype and is associated with a very poor prognosis. The identification of genetic alterations that drive this aggressive phenotype could aid in the development of more effective targeted therapies. In this study, we aimed to identify unique copy number alterations (CNAs) in patients with sarcomatoid RCC when compared to those with other RCC subtypes. Methods: Genomic copy number analysis was performed using single nucleotide polymorphism (SNP)-based microarrays on tissue extracted from the tumors of 80 patients (9 with sarcomatoid features (sRCC), 39 clear cell (ccRCC), 26 papillary (pRCC) and 6 chromophobe RCC (chRCC)) who underwent renal mass excision between 2010 - 2014. Statistical analysis was performed using Kaplan Meier (KM) survival analysis, t-tests and Fisher exact tests where appropriate. Results: sRCC tumors exhibited significantly higher numbers of CNAs when compared to ccRCC, pRCC and chRCC (mean 20.1 vs. 6.6 vs. 7.0 vs. 6.3, respectively; p <0.0001). The most common copy number losses occurred in chromosome arms 1p, 3p, 9q, 15q, 18q, 21q, and 22q, with losses of 9q (88%), 15q (77%), 18q (66%), and 22 (77%) being unique among sRCC tumors when compared to the other 3 histologies. The most common copy number gains were in chromosome arms 1q, 8q, 17q, and 20p/q, with 1q (55%) and 8q (66%) gains unique when compared to the other 3 histologies. Of the sRCC tumors, 3 arose from ccRCC, 2 from pRCC and 4 from unclassified RCC. sRCC was associated with worse survival compared to ccRCC, pRCC and chRCC on KM analysis (p=0.0006), and higher rates of lymph node positivity (77% vs. 3% vs. 12% vs. 0%, respectively; p<0.0001) and metastases (100% vs. 13% vs. 4% vs. 0%, respectively; p<0.0001) on presentation were observed with sRCC. Conclusions: Sarcomatoid differentiation in RCC is associated with a high rate of chromosomal changes with unique copy number alterations including losses of 9q, 15q, 18q and 22q and gains of 1q and 8q. Identification and validation of candidate driver genes or tumor suppressor loci within these chromosomal regions may help identify targets for future therapies.

scholarly journals Renal cell carcinoma: a review of biology and pathophysiology

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 307 ◽  
Author(s):  
Shahzaib Nabi ◽  
Elizabeth R. Kessler ◽  
Brandon Bernard ◽  
Thomas W. Flaig ◽  
Elaine T. Lam
Keyword(s):  
Renal Cell Carcinoma ◽  
Immune System ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Disease Process ◽  
Genetic Alterations ◽  
Therapeutic Approaches ◽  
Main Emphasis ◽  
Insight Into

Over the past decade, our understanding of the biology and pathophysiology of renal cell carcinoma (RCC) has improved significantly. Insight into the disease process has helped us in developing newer therapeutic approaches toward RCC. In this article, we review the various genetic and immune-related mechanisms involved in the pathogenesis and development of this cancer and how that knowledge is being used to develop therapeutic targeted drugs for the treatment of RCC. The main emphasis of this review article is on the most common genetic alterations found in clear cell RCC and how various drugs are currently targeting such pathways. This article also looks at the role of the immune system in allowing the growth of RCC and how the immune system can be manipulated to reactivate cytotoxic immunity against RCC.

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