Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates

Alaghehbandan, Reza; Przybycin, Christopher; Verkarre, Virginie; Mehra, Rohit

doi:10.1016/j.ajur.2021.11.010

Cited by 19 publications

(16 citation statements)

References 90 publications

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“…Clinical implications of ChRCC in general including grading and prognosis have extensively been studied. 16,17 It is important to note that most if not all such studies focused on well-known ChRCC subtypes (classic, eosinophilic, and sarcomatoid). As such, in this section we provide a practical approach for both pathologists and clinicians encountering and managing rare patterns of ChRCC.…”

Section: Practical Approach and Clinical Implicationsmentioning

confidence: 99%

“…In this section, we mainly focus on histologic features of each subtype, with particular emphasis on the rare patterns. The clinical features and genetic profiles of ChRCC have been described in detail in recent publications 16,17…”

Section: Morphologic Spectrummentioning

confidence: 99%

“…ChRCC is the third most common RCC, making up 5% to 7% of adult renal epithelial tumors 17. Classic ChRCC is the most common subtype, although its true incidence is not fully known.…”

Section: Morphologic Spectrummentioning

confidence: 99%

“…Clinical implications of ChRCC in general including grading and prognosis have extensively been studied 16,17. It is important to note that most if not all such studies focused on well-known ChRCC subtypes (classic, eosinophilic, and sarcomatoid).…”

Section: Practical Approach and Clinical Implicationsmentioning

confidence: 99%

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The Histologic Diversity of Chromophobe Renal Cell Carcinoma With Emphasis on Challenges Encountered in Daily Practice

Alaghehbandan

Williamson

McKenney

et al. 2022

Advances in Anatomic Pathology

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Chromophobe renal cell carcinoma (ChRCC) is the third most common renal cell carcinoma in adults. The aim of this review is to provide a comprehensive overview highlighting the broad morphologic spectrum of ChRCC, and offer a practical approach for handling cases in daily practice. For the purpose of this review, we classify ChRCC subtypes as (1) classic, (2) eosinophilic, (3) sarcomatoid, and (4) other rare patterns. The concept of eosinophilic ChRCC has significantly evolved, yet it still is one of the major diagnostic challenges pathologists face in routine practice due to its morphologic overlap with renal oncocytoma. Rare patterns of ChRCC have been described over the last few decades, showing a wide histologic spectrum including those with adenomatoid microcystic pigmented, multicystic, neuroendocrine, small cell, and papillary features. ChRCC represents a heterogenous group of neoplasms, demonstrating varied but unique morphologic and genetic profiles. Although the field of ChRCC knowledge is still evolving, rare patterns can present diagnostic challenges if they are not known to pathologists and/or clinicians. Proper and generous tumor sampling along with careful histologic examination allow for recognition of these rare morphologies. The role of routine molecular testing appears to be limited. From a clinical management standpoint, the rare patterns of ChRCC seem to have no definite clinical implications at present and likely can be managed similarly to usual ChRCC. Finally, we will discuss distinctive novel/emerging renal neoplasms previously considered under the spectrum of ChRCC, low-grade oncocytic renal tumor and eosinophilic vacuolated tumor, with regard to their current significance and implications for future classification strategies.

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Section: Practical Approach and Clinical Implicationsmentioning

confidence: 99%

Section: Morphologic Spectrummentioning

confidence: 99%

“…ChRCC is the third most common RCC, making up 5% to 7% of adult renal epithelial tumors 17. Classic ChRCC is the most common subtype, although its true incidence is not fully known.…”

Section: Morphologic Spectrummentioning

confidence: 99%

Section: Practical Approach and Clinical Implicationsmentioning

confidence: 99%

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The Histologic Diversity of Chromophobe Renal Cell Carcinoma With Emphasis on Challenges Encountered in Daily Practice

Alaghehbandan

Williamson

McKenney

et al. 2022

Advances in Anatomic Pathology

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“… 4 ChRCCs originated from the intercalated cell of distal tubules, tumor protein P53 and phosphatase and tensin homolog deleted on chromosome ten (PTEN) were the two main frequently mutated genes. 5 CcRCC was the main pathological types, and associated with von Hippel-Lindau (VHL) disease. Loss of function of the VHL tumor suppressor protein (pVHL).…”

Section: Introductionmentioning

confidence: 99%

High Expression of DNTTIP1 Predicts Poor Prognosis in Clear Cell Renal Cell Carcinoma

Wang¹,

Wei-quan²,

Lou³

et al. 2023

PGPM

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Background Invasion and metastasis led to poor prognosis and death of clear cell renal cell carcinoma (ccRCC) patients. The deoxynucleotidyl transferase terminal interacting protein 1 (DNTTIP1) was reported to promote multiple tumor progression. However, there is no research about DNTTIP1 in ccRCC. Methods Kaplan–Meier survival analysis, multivariate analysis demonstrated the prognostic indicator in overall survival (OS) and disease-free survival (DFS) of ccRCC with DNTTIP1 expression in the Cancer Genome Atlas Kidney Clear Cell Carcinoma (TCGA-KIRC). Receiver operator characteristic (ROC) curve analyzed diagnostic ability of DNTTIP1 in TCGA-KIRC and validation dataset. The quantitative real-time polymerase chain reaction (qRT-PCR) detected the DNTTIP1 expression in renal cancer tissues, and the Office of Cancer Clinical Proteomics Research (CPTAC) verified the protein expression of DNTTIP1. Moreover, nomogram predicted the role of DNTTIP1 in ccRCC patient. Single-sample Gene Set Enrichment Analysis (SsGSEA) and GSEA evaluated the pathogenesis role of DNTTIP1 in TCGA-KIRC. Results DNTTIP1 expression was higher in ccRCC tumor tissues. High expression of DNTTIP1 was associated with poor OS (HR = 1.618, P < 0.0001), and poor DFS (HR = 1.789, P < 0.0001). SsGSEA and GSEA showed DNTTIP1 was associated with hypoxia, epithelial-mesenchymal transition (EMT), angiogenesis, G2M checkpoint. DNTTIP1 had a positive correlation with EMT biomarkers in ccRCC, and might be an effective target for ccRCC. Conclusion This study provided that higher expression of DNTTIP1 predicted poor prognosis in ccRCC, and DNTTIP1 might be a novel detection biomarker and therapeutic target of tumor malignant in the future.

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Molecular Analysis of Renal/Adrenal Angiosarcomas Reveals High Frequency of Recurrent Genetic Alterations

Argani,

Saoud,

Antonescu

2024

Genes Chromosomes & Cancer

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Angiosarcomas of the kidney and adrenal gland are rare, highly aggressive vascular neoplasms. Their genomic profile has not been systematically studied to date. We report the clinicopathologic and molecular features of six angiosarcomas centered in the kidney/adrenal gland. All patients were male adults, ranging from 58 to 77 years of age. Tumor sizes ranged from 2.5 to 22.5 cm. Half of the cases demonstrated hot spot mutations in the KDR gene, while one‐third demonstrated mutations in the PIK3CA gene; both of these gene alterations being previously described, preferentially in breast angiosarcomas. In addition, two cases each demonstrated BRIP1 gene amplification, CTNNB1 and ETV6 mutations, which have not been previously reported in angiosarcoma. Notably, molecular studies were critical in establishing the correct diagnoses in three cases: one was an epithelioid angiosarcoma originally misdiagnosed as metastatic adenocarcinoma to the adrenal gland, the second was a vasoformative angiosarcoma that mimicked hemangioma, and the third was a collision tumor between a high‐grade angiosarcoma and a chromophobe renal cell carcinoma which was originally diagnosed as a sarcomatoid renal cell carcinoma. In summary, angiosarcomas of the kidney and adrenal gland have a high frequency of recurrent genetic alterations, some of them being shared with other angiosarcoma subtypes, while other appear to be novel. In particular, activating hot spot KDR and PIK3CA mutations represent potential therapeutic targets for these highly aggressive cancers.

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Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates

Cited by 19 publications

References 90 publications

The Histologic Diversity of Chromophobe Renal Cell Carcinoma With Emphasis on Challenges Encountered in Daily Practice

The Histologic Diversity of Chromophobe Renal Cell Carcinoma With Emphasis on Challenges Encountered in Daily Practice

High Expression of DNTTIP1 Predicts Poor Prognosis in Clear Cell Renal Cell Carcinoma

Molecular Analysis of Renal/Adrenal Angiosarcomas Reveals High Frequency of Recurrent Genetic Alterations

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