Abstract

Renal epithelial cell tumors are composed of a heterogeneous group of tumors with variable morphologic, immunohistochemical, and molecular features. A “histo-molecular” approach is now an integral part of defining renal tumors, aiming to be clinically and therapeutically pertinent. Most renal epithelial tumors including the new and emerging entities have distinct molecular and genetic features which can be detected using various methods. Most renal epithelial tumors can be diagnosed easily based on pure histologic findings with or without immunohistochemical examination. Furthermore, molecular-genetic testing can be utilized to assist in arriving at an accurate diagnosis. In this review, we presented the most current knowledge concerning molecular-genetic aspects of renal epithelial neoplasms, which potentially can be used in daily diagnostic practice.

Highlights

  • Renal cell tumors are one of the most extensively studied human neoplasms

  • We present the most current knowledge concerning molecular-genetic aspects of renal epithelial neoplasms, which potentially can be used in daily diagnostic practice

  • It is important to note that ISUP recommendations for molecular genetic testing of renal cell tumors will be published in the near future

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Summary

Introduction

Renal cell tumors are one of the most extensively studied human neoplasms. A number of morphologic, immunohistochemical and molecular genetic features were described during the last 20 years, which have led to recognition of new entities, expanding our knowledge and understanding of renal tumors. “The Heidelberg classification of renal cell tumors” published in 1997 was the first classification integrating molecular genetic features as one of the diagnostic tools applicable to renal cell tumors [1]. This classification was further corroborated by the so-called UICC Rochester Classification [2], which later evolved through the 2004 World Health Organization (WHO) tumor classification [3], 2012 Vancouver ISUP (International Society of Urologic Pathology) consensus conference [4], and most recently the 2016 WHO blue book [5]. It is important to note that ISUP recommendations for molecular genetic testing of renal cell tumors will be published in the near future

Method
Type 1 Papillary RCC
Papillary RCC NOS
Oncocytoma
MiT Family Translocation-Associated Renal Cell Carcinoma
Mucinous
12. Renal Medullary Carcinoma
14. Succinate
SDHB-deficient morphology-eosinophilic renal with numerous numerous
15. Fumarate Hydratase
16. New but but
16.1. Eosinophilic
16.3. TCEB1-Mutated
16.5. ALK-Rearranged
Findings
17. Discussion
18. Conclusions
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