Skip to main content
SpringerLink
Log in
Book cover

Imaging of Kidney Cancer pp 239–256Cite as

Hereditary Renal Cancer

  • Chapter

Part of the book series: Medical Radiology ((Med Radiol Diagn Imaging))

15.12 Conclusion

Over the past 5 years there have been dramatic developments in the understanding of hereditary renal cancers. von Hippel-Lindau disease is now understood to be associated with clear cell carcinoma, and other associations have also become known: hereditary papillary renal cancer is associated with type 1 papillary renal cancer, and hereditary leiomyoma renal cell carcinoma with type 2 papillary renal cancer. Birt-Hogg-Dubé syndrome and familial renal oncocytoma are associated with chromophobe carcinoma and oncocytomas, although other histologic tumor types have been found in Birt-Hogg-Dubé syndrome. Medullary carcinoma of kidney is associated with the sickle cell trait.

Although the genes associated with these tumors have been discovered, the exact mechanisms by which they cause renal cancer remain to be elucidated. It is quite likely that other genes also are involved in this process. Using VHL disease as an example, research is now underway on using mutant pVHL or excess HIF for diagnostic and therapeutic purposes. Understanding the mechanisms that lead to cancer may open new avenues of opportunity for drug development. This improved knowledge of the biogenetic pathways used to form tumors will affect the development of new therapeutic techniques for treating both hereditary and nonhereditary forms of renal cancer.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   169.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   299.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Amin MB, Corless CL, Renshaw AA, Tickoo SK, Kubus I, Schultz DS (1997) Papillary (chromophil) renal cell carcinoma: histomorphologic characteristics and evaluation of conventional pathologic prognostic parameters in 62 cases. Am J Surg Pathol 21:621–635

    PubMed  CAS  Google Scholar 

  • Amin MB, Crotty TB, Tickoo SK, Farrow GM (1997) Renal oncocytoma: a reappraisal of morphologic features with clinicopathologic findings in 80 cases. Am J Surg Pathol 21:1–12

    PubMed  CAS  Google Scholar 

  • Amin MB, Tamboli P, Javidan J Stricker H, de-Peralta Ventunna M, Deshpande A et al. (2002) Prognostic impact of histologic subtyping of adult renal epithelial neoplasms: an experience of 405 cases. Am J Surg Pathol 26:281–291

    PubMed  Google Scholar 

  • Ashley-Koch A, Yang Q, Olney RS (2000) Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Am J Epidemiol 151:839–845

    PubMed  CAS  Google Scholar 

  • Ataga KI, Orringer EP (2000) Renal abnormalities in sickle cell disease. Am J Hematol 63:205–211

    Article  PubMed  CAS  Google Scholar 

  • Birt AR, Hogg GR, Dube WJ (1977) Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 13 1674–1677

    Google Scholar 

  • Bjornsson J, Short MP, Kwiatkowski DJ, Henske EP (1996) Tuberous sclerosis-associated renal cell carcinoma: clinical, pathological, and genetic features. Am J Pathol 149:1201–1208

    PubMed  CAS  Google Scholar 

  • Bodmer D, Eleveld MJ, Ligtenberg MJ, Weterman MA, Janssen BA, Smeets DF et al. (1998) An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation. Am J Hum Genet 62:1475–1483

    Article  PubMed  CAS  Google Scholar 

  • Chan HS, Daneman A, Gribbin M, Martin DJ (1983) Renal cell carcinoma in the first two decades of life. Pediatr Radiol 13:324–328

    Article  PubMed  CAS  Google Scholar 

  • Chen RN, Novick AC, Gill IS (2000) Laparoscopic cryoablation of renal masses. Urol Clin North Am 27:813–820

    Article  PubMed  CAS  Google Scholar 

  • Choyke PL, Glenn GM, Walther MM, Zbar B, Weiss GH, Alexander RB et al. (1992) The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. Am J Roentgenol 159:1229–1234

    CAS  Google Scholar 

  • Choyke PL, Glenn GM, Walther MM, Patronas NJ, Linehan WM, Zbar B (1995) von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology 194:629–642

    PubMed  CAS  Google Scholar 

  • Choyke PL, Watther MM, Glenn GM, Wagner JR, Venzon DJ, Lubensky IA et al. (1997) Imaging features of hereditary papillary renal cancers. J Comput Assist Tomogr 21:737–741

    Article  PubMed  CAS  Google Scholar 

  • Choyke PL, Pavlovich CP, Daryanani KD, Hewitt SM, Linehan WM, Walther MM (2001) Intraoperative ultrasound during renal parenchymal sparing surgery for hereditary renal cancers: a 10-year experience. J Urol 165:397–400

    Article  PubMed  CAS  Google Scholar 

  • Choyke PL, Glenn GM, Walther MM, Zbar B, Linehan WM (2003) Hereditary renal cancers. Radiology 226:33–46

    PubMed  Google Scholar 

  • Cohen AJ, Li FP, Berg S, Marchetto DJ, Tsai S, Jacobs SC et al. (1979) Hereditary renal-cell carcinoma associated with a chromosomal translocation. N Engl J Med 301:592–595

    PubMed  CAS  Google Scholar 

  • Davidson AJ, Hayes WS, Hartman DS, McCarthy CJ, Davis CJ Jr (1993) Renal oncocytoma and carcinoma: failure of differentiation with CT. Radiology 186:693–696

    PubMed  CAS  Google Scholar 

  • Davidson AJ, Choyke PL, Hartman DS, Davis CJ Jr (1995) Renal medullary carcinoma associated with sickle cell trait: radiologic findings. Radiology 195:83–85

    PubMed  CAS  Google Scholar 

  • Davis CJ Jr, Mostofi FK, Sesterhenn IA (1995) Renal medullary carcinoma: the seventh sickle cell nephropathy. Am J Surg Pathol 19:1–11

    PubMed  Google Scholar 

  • Eker R, Mossige J, Johannessen JV, Aars H (1981) Hereditary renal adenomas and adenocarcinomas in rats. Diagn Histopathol 4:99–110

    PubMed  CAS  Google Scholar 

  • Erlandson RA, Shek TW, Reuter VE (1997) Diagnostic significance of mitochondria in four types of renal epithelial neoplasms: an ultrastructural study of 60 tumors. Ultrastruct Pathol 21:409–417

    Article  PubMed  CAS  Google Scholar 

  • Figenshau RS, Basler JW, Ritter JH, Siegel CL, Simon JA, Dierks SM (1998) Renal medullary carcinoma. J Urol 159:711–713

    PubMed  CAS  Google Scholar 

  • Gago-Dominguez M, Yuan JM, Castelao JE, Ross RK, Yu MC (2001) Family history and risk of renal cell carcinoma. Cancer Epidemiol Biomarkers Prev 10:1001–1004

    PubMed  CAS  Google Scholar 

  • Gervais DA, McGovem FJ, Wood BJ, Goldberg SN, McDougal WS, Mueller PR (2000) Radio-frequency ablation of renal cell carcinoma: early clinical experience. Radiology 217:665–721

    PubMed  CAS  Google Scholar 

  • Glenn GM, Gnarra JR, Choyke PL, Walther MM, Zbar B, Linehan WM (1997) The molecular genetics of renal cell carcinoma. In: Raghaven D, Scher Hl, Lange PH (eds) Principles and practice of genitourinary oncology. Lippincott-Raven, Philadelphia, pp 85–97

    Google Scholar 

  • Hamano K, Esumi M, Igarashi H, Chino K, Mochida J, Ishida A, Okada K (2002) Biallelic inactivation of the von Hippel-Lindau tumor suppressor gene in sporadic renal cell carcinoma. Urology 167:713–771

    CAS  Google Scholar 

  • Herman JG, Latif F, Weng Y, Lerman MI, Zbar B, Liu S et al. (1994) Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc Natl Acad Sci USA 91:9700–9704

    PubMed  CAS  Google Scholar 

  • Herring JC, Enquist EG, Chemoff A, Linehan WM, Choyke PL, Walther MM (2001) Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. J Urol 165:777–781

    PubMed  CAS  Google Scholar 

  • Ho VB, Allen SF, Hood MN, Choyke PL (2002) Renal masses: quantitative assessment of enhancement with dynamic MR imaging. Radiology 224:695–700

    PubMed  Google Scholar 

  • Hidai H, Chiba T, Takagi Y, Taki A, Nagashima Y, Kuroko K (1997) Bilateral chromophobe cell renal carcinoma in tuberous sclerosis complex. Int J Urol 4:86–89

    PubMed  CAS  Google Scholar 

  • Inoue K, Karashima T, Chikazawa M, Iiyama T, Yoshikawa C, Funhata M et al. (1998) Overexpression of c-met protooncogene associated with chromophilic renal cell carcinoma with papillary growth. Virchows Arch 433:511–515

    Article  PubMed  CAS  Google Scholar 

  • Jamis-Dow CA, Choyke PL, Jennings SB, Linehan WM, Thakore KN, Walther MM (1996) Small (≤3 cm) renal masses: detection with CT versus US and pathologic correlation. Radiology 198:785–788

    PubMed  CAS  Google Scholar 

  • Jimenez RE, Eble JN, Reuter VE, Epstein JI, Folpe AL, Peralta-Venturina M de et al. (2001) Concurrent angiomyolipoma and renal cell neoplasia: a study of 36 cases. Mod Pathol 14:157–163

    Article  PubMed  CAS  Google Scholar 

  • Kaelin WG, Iliopoulos O, Lonergan KM, Ohh M (1998) Functions of the von Hippel-Lindau tumour suppressor protein. J Intern Med 243:535–539

    Article  PubMed  CAS  Google Scholar 

  • Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R et al. (2002) Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet 39:906–912

    Article  PubMed  CAS  Google Scholar 

  • Koochekpour S, Jeffers M, Wang PH, Gong C, Taylor GA, Roessler LM et al. (1999) The von Hippel-Lindau tumor suppressor gene inhibits hepatocyte growth factor/scatter factorinduced invasion and branching morphogenesis in renal carcinoma cells. Mol Cell Biol 19:5902–5912

    PubMed  CAS  Google Scholar 

  • Kovacs G, Akhtar M, Beckwith BJ, Bugert P, Cooper CS, Delahunt B et al. (1997) The Heidelberg classification of renal cell tumors. J Pathol 183:131–133

    Article  PubMed  CAS  Google Scholar 

  • Kulkarni S, Uddar M, Deshpande SG, Vaid S, Wadia RS (2000) Renal cell carcinoma as significant manifestation of tuberous sclerosis complex. J Assoc Physicians India 48:351–353

    PubMed  CAS  Google Scholar 

  • Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML et al. (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260:1317–1320

    PubMed  CAS  Google Scholar 

  • Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E et al. (2001) Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 98:3387–3392

    Article  PubMed  CAS  Google Scholar 

  • Libutti SK, Choyke PL, Bartlett DL et al. (1998) Pancreatic neuroendocrine tumors associated with von-Hippel Lindau disease: diagnostic and management recommendations. Surgery 124:1153–1159

    Article  PubMed  CAS  Google Scholar 

  • Miyazaki T, Yamashita Y, Yoshimatsu S, Tsuchigame T, Takahashi M (2000) Renal cell carcinomas in von Hippel-Lindau disease; tumor detection and management. Comput Med Imaging Graph 24:105–113

    PubMed  CAS  Google Scholar 

  • Moyad MA (2001) Review of potential risk factors for kidney (renal cell) cancer. Semin Urol Oncol 19:280–293

    PubMed  CAS  Google Scholar 

  • Nagashima Y (2000) Chromophobe renal cell carcinoma: clinical, pathological and molecular biological aspects. Pathol Int 50:872–878

    Article  PubMed  CAS  Google Scholar 

  • Neumann HP, Wiestler OD (1991) Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 337:1052–1054

    Article  PubMed  CAS  Google Scholar 

  • Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Tuner ML et al. (2002) Mutations in a novel gene lead to kidney tumors, lung wall defects and benign tumors of the hair follicle in patients with Birt-Hogg-Dubé syndrome. Cancer Cell 2:157–164

    Article  PubMed  CAS  Google Scholar 

  • Noguchi S, Nagashima Y, Shuin T, Kubota Y, Kitamura H, Yao M et al. (1995) Renal oncocytoma containing “chromophobe” cells. Int J Urol 2:279–280

    PubMed  CAS  Google Scholar 

  • Pautler SE, Pavlovich CP, Mikityansky I, Drachenbeg DE, Choyke PL, Linehan WM et al. (2001) Retroperitoneoscopic-guided radiofrequency ablation of renal tumors. Can J Urol 8:1330–1333

    PubMed  CAS  Google Scholar 

  • Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Lineman WM et al. (2002) Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol 26:1542–1552

    Article  PubMed  Google Scholar 

  • Pea M, Bonetti F, Martignoni G, Henske EP, Manfrin E, Colato C et al. (1998) Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma. Am J Surg Pathol 22:180–187

    Article  PubMed  CAS  Google Scholar 

  • Peccatori I, Pitingolo F, Battini G, Meroni M, Giordano F, Guarino M et al. (1997) Pulmonary lymphoangioleiomyomatosis of tuberous sclerosis? Nephron Dial Transplant 12:2740–2743

    CAS  Google Scholar 

  • Pickhardt PJ (1998) Renal medullary carcinoma: an aggressive neoplasm in patients with sickle cell trait. Abdom Imaging 23:531–532

    PubMed  CAS  Google Scholar 

  • Poston CD, Jaffe GS, Lubensky IA, Solomon D, Zbar B, Solomon D, Linehan WM et al. (1995) Characterization of the renal pathology of a familial form, of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications. J Urol 153:22–26

    Article  PubMed  CAS  Google Scholar 

  • Remer EM, Weinberg EJ, Oto A, O’Malley CM, Gill IS (2000) MR imaging of the kidneys after laparoscopic cryoablation. Am J Roentgenol 174:635–640

    CAS  Google Scholar 

  • Robertson FM, Cendron M, Klauber GT, Harris BH (1996) Renal cell carcinoma in association with tuberous sclerosis in children. J Pediatr Surg 31:729–730

    Article  PubMed  CAS  Google Scholar 

  • Roth JS, Rabinowitz AD, Benson M, Grossman ME (1993) Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 29:1055–1056

    PubMed  CAS  Google Scholar 

  • Sampson JR, Patel A, Mee AD (1995) Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family. J Med Genet 31:843–850

    Google Scholar 

  • Schmidt L, Junker K, Weirich G, Glenn G, Choyke P, Lubensky I et al. (1998) Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene. Cancer Res 58:1719–1722

    PubMed  CAS  Google Scholar 

  • Schulz T, Hartschuh W (1999) Birt-Hogg-Dubé syndrome and Hornstein-Knickenberg syndrome are the same: different sectioning technique as the cause of different histology. J Cutan Pathol 26:55–61

    PubMed  CAS  Google Scholar 

  • Stolle C, Glenn G, Zbar, B, Humphrey JS, Choyke P, Walther M et al. (1998) Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 12:417–423

    Article  PubMed  CAS  Google Scholar 

  • Storkel S, Eble JN, Adlakha K, Amin M, Blute ML, Bostwick DG et al. (1997) Classification of renal cell carcinoma: Workgroup No. 1. Union Internationale Contre le Cancer (UICC) and the American Joint Committee on Cancer (AJCC). Cancer 80:987–989

    PubMed  CAS  Google Scholar 

  • Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D et al. (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30:406–410

    Article  PubMed  CAS  Google Scholar 

  • Torres VE, Zincle H, King BK, Bjornson J (1997) Renal manifestations of tuberous sclerosis complex. Contrib Nephrol 122:64–75

    PubMed  CAS  Google Scholar 

  • Turner KJ, Huson SM, Moore N, Britton BJ, Cranston D (2001) von Hippel-Lindau disease: renal tumors less than 3 cm can metastasize. J Urol 165:1207

    PubMed  CAS  Google Scholar 

  • Walther MM, Keiser HR, Linehan WM (1999) Pheochromocytoma: evaluation, diagnosis and treatment. World J Urol 17:35–39

    Article  PubMed  CAS  Google Scholar 

  • Warfel KA, Eble JN (1982) Renal oncocytomatosis. J Urol 127:179–180

    Google Scholar 

  • Weirich G, Glenn G, Junker K, Merino M, Strokel S, Lubensky I et al. (1998) Familial renal oncocytoma: clinicopathological study of 5 families. J Urol 160:335–340

    PubMed  CAS  Google Scholar 

  • Wood BJ, Ramkaransingh JR, Fojo T, Walther MM, Libutti SK (2002) Percutaneous tumor ablation with radiofrequency. Cancer 94:443–451

    Article  PubMed  Google Scholar 

  • Zbar B (2000) Inherited epithelial tumors of the kidney: old and new diseases. Semin Cancer Biol 10:313–318

    Article  PubMed  CAS  Google Scholar 

  • Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L et al. (2002) Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev 11:393–400

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Radiology, Arao City Hospital, 2600 Arao, Arao city, 864-0041, Japan

    Toshiyuki Miyazaki MD (Chairman)

  2. Department of Radiology, Kumamoto University, International Imaging Center, 1-2-23 Kuhonji, Kumamoto city, 862-0976, Japan

    Mutsumasa Takahashi MD (Emeritus Professor)

Authors
  1. Toshiyuki Miyazaki MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mutsumasa Takahashi MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Oncology Services Department of Radiology Services, Synarc Inc., 575 Market Street, 17th Floor, San Francisco, CA, 94105, USA

    Ali Guermazi MD (Senior Radiologist, Scientific Director) (Senior Radiologist, Scientific Director)

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Miyazaki, T., Takahashi, M. (2006). Hereditary Renal Cancer. In: Guermazi, A. (eds) Imaging of Kidney Cancer. Medical Radiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-30003-1_15

Download citation

  • DOI: https://doi.org/10.1007/3-540-30003-1_15

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-21129-7

  • Online ISBN: 978-3-540-30003-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation