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Hereditary Syndromes Associated with Kidney Tumors

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Kidney Cancer

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Abstract

Hereditary renal cell carcinomas (HRCC) comprise about 2–4% of all renal cell carcinomas (RCC). With understanding of molecular basis of RCC, 10 HRCC syndromes have been recognized. All of them exhibit an autosomal dominant inheritance pattern. More common and well-known HRCC syndromes are von Hippel–Lindau (VHL), hereditary papillary RCC, Birt–Hogg–Dubé syndrome (BHD), hereditary leiomyomatosis RCC (HLRCC) syndrome, and tuberous sclerosis.

HRCC syndromes involve multiple clinical manifestations, histologic subtypes, genetic alterations, and molecular pathways. Morphologically, they may have some overlapping features among them and sporadic counterparts. The patients with HRCC syndromes are an important group requiring early screening and careful follow-up, and their relatives should be informed about disease-related morbidity and survival.

Although HRCC syndromes are rare and account for only a small portion of RCC, they carry profound biologic and clinical significance. The discovery of the genetic and molecular mechanism of these syndromes represents monumental scientific breakthrough.

These findings provide fundamental pathogenic insights into renal tumor oncogenesis in general and pave the way for modern molecule-targeted therapy. These findings also create a robust framework guiding the care of the affected patients and members of their family.

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Authors and Affiliations

  1. Gulhane Military Medical Academy, School of Medicine, Department of Pathology, Ankara, Turkey

    Ayhan Ozcan

  2. Yeni Yuzyil University Gaziosmanpasa Hospital, Department of Pathology, Istanbul, Turkey

    Ayhan Ozcan

  3. Department of Pathology, Cukurova University, School of Medicine, Adana, Turkey

    Seyda Erdogan

  4. Department of Pathology and Genomic Medicine, The Houston Methodist Hospital, Houston, TX, USA

    Luan D. Truong

  5. Department of Pathology and Laboratory Medicine, Weill Cornell Medical College of Cornell University, New York, NY, USA

    Luan D. Truong

  6. Department of Pathology and Medicine, Baylor College of Medicine, Houston, TX, USA

    Luan D. Truong

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  1. Ayhan Ozcan
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  2. Seyda Erdogan
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  3. Luan D. Truong
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Correspondence to Ayhan Ozcan .

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Editors and Affiliations

  1. Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Weill Medical College of Cornell University, Houston, TX, USA

    Mukul K. Divatia

  2. Gulhane Military Medical Academy, School of Medicine, Department of Pathology, Ankara, Turkey

    Ayhan Ozcan

  3. Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    Charles C. Guo

  4. Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Weill Medical College of Cornell University, Houston, TX, USA

    Jae Y. Ro

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Ozcan, A., Erdogan, S., Truong, L.D. (2020). Hereditary Syndromes Associated with Kidney Tumors. In: Divatia, M., Ozcan, A., Guo, C., Ro, J. (eds) Kidney Cancer. Springer, Cham. https://doi.org/10.1007/978-3-030-28333-9_11

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