Skip to main content
Hauptrubriken
CME Facharzt-Training Webinare Zeitschriften Bücher e.Medpedia Podcast
Service
Jobbörse Info & Hilfe
Fachgebiete
Anästhesiologie Allgemeinmedizin Arbeitsmedizin Augenheilkunde Chirurgie Dermatologie Gynäkologie und Geburtshilfe HNO Innere Medizin Kardiologie Neurologie Onkologie und Hämatologie Orthopädie und Unfallchirurgie Pädiatrie Pathologie Psychiatrie Radiologie Rechtsmedizin Urologie Zahnmedizin
Themen
Klimawandel und Gesundheit Neues aus dem Markt COVID-19 Praxis und Beruf Seltene Erkrankungen GOÄ & EBM Panorama
Sammlungen
Kasuistiken Algorithmen & Infografiken Blickdiagnosen Arthropedia FlapFinder (für Dermatochirurgen) Videos Kongressberichterstattung Medizin für Apothekerinnen und Apotheker Für Ärztinnen und Ärzte in Weiterbildung Für Medizinstudierende
Erweiterte Suche
Anmelden
nach oben
Current Urology Reports
Erschienen in: Current Urology Reports 10/2018

01.10.2018 | New Imaging Techniques (S Rais-Bahrami and K Porter, Section Editors)

Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma

verfasst von: Yuval Freifeld, Lakshmi Ananthakrishnan, Vitaly Margulis

Erschienen in: Current Urology Reports | Ausgabe 10/2018

Einloggen, um Zugang zu erhalten

Abstract

Purpose of Review

To summarize the literature providing the basic genetic and clinical characteristics of renal cell carcinoma (RCC) familial syndromes, as well as to describe associated unique imaging characteristics and appropriate imaging protocols.

Recent Findings

At least 5–8% of RCC cases are associated with hereditary syndromes. These patients are prone to developing multiple renal tumors or associated malignancies and require more intense diagnostic and follow-up imaging studies. New familial types of RCC are continuously discovered, vis-à-vis recent characterization of BAP1 associated RCC and MITF associated cancer syndrome.

Summary

With increasing number of recognizable familial syndromes associated with RCC, physicians should be familiar with the different syndromes, the associated risks of malignancy and appropriate imaging protocols.
Literatur
1.
2.
3.
Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, et al. Defining early-onset kidney Cancer: implications for germline and somatic mutation testing and clinical management. J Clin Oncol. 2014;32(5):431–7.CrossRefPubMed
4.
Carlo MI, Mukherjee S, Mandelker D, et al. Prevalence of germline mutations in cancer susceptibility genes in patients with advanced renal cell carcinoma. JAMA Oncol. 2018.
5.
6.
Nickerson ML, Jaeger E, Shi Y, Durocher JA, Mahurkar S, Zaridze D, et al. Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. Clin Cancer Res. 2008;14(15):4726–34.CrossRefPubMedPubMedCentral
7.
Leung RS, Biswas SV, Duncan M, Rankin S. Imaging features of von Hippel–Lindau disease. Radiographics. 2008;28(1):65–79.CrossRefPubMed
8.
Maher ER, Yates JRW, Harries R, Benjamin C, Harris R, Moore AT, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990;77(2):1151–63.CrossRefPubMed
9.
Hes FJ, Feldberg MAM. Von Hippel-Lindau disease: strategies in early detection (renal-, adrenal-, pancreatic masses). Eur Radiol. 1999;9(4):598–610.CrossRefPubMed
10.
Menko FH, Maher E, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, et al. Hereditary leiomyomatosis and renal cell cancer (HLRCC). Renal cancer risk, surveillance and treatment. Familial Cancer. 2014;13(4):637–44.CrossRefPubMedPubMedCentral
11.
Walther MM, Choyke PL, Glenn G, Lyne JC, Rayford W, Venzon D, et al. Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery. J Urol. 1999;161(5):1475–9.CrossRefPubMed
12.
Shanbhogue KP, Hoch M, Fatterpaker G, Chandarana H. von Hippel-Lindau disease: review of genetics and imaging. Radiol Clin N Am. 2016;54(3):409–22.CrossRefPubMed
13.
•• Czarniecki M, Choyke PL, Turkbey B, Gautam R. Imaging findings of hereditary renal tumors, a review of what the radiologist should know. Eur J Radiol. 2018;101:8–16. This article provides a good overview of imaging findings of syndromic RCC.CrossRefPubMed
14.
Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, et al. von Hippel-Lindau disease. Lancet. 2003;361(9374):2059–67.CrossRefPubMed
15.
Wood CG, Stromberg LJ, Harmath CB, Horowitz JM, Feng C, Hammond NA, et al. CT and MR imaging for evaluation of cystic renal lesions and diseases. Radiographics. 2015;35(1):125–41.CrossRefPubMed
16.
Aufforth RD, Ramakant P, Sadowski SM, Mehta A, Trebska-McGowan K, Nilubol N, et al. Pheochromocytoma screening initiation and frequency in von Hippel-Lindau syndrome. J Clin Endocrinol Metab. 2015;100(12):4498–504.CrossRefPubMedPubMedCentral
17.
Zbar B, Tory K, Merino M, Schmidt L, Glenn G, Choyke P, et al. Hereditary papillary renal cell carcinoma. J Urol. 1994;151(3):561–6.CrossRefPubMed
18.
Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, et al. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet. 1997;16:68–73.CrossRefPubMed
19.
Verine J, Pluvinage A, Bousquet G, Lehmann-Che J, de Bazelaire C, Soufir N, et al. Hereditary renal Cancer syndromes: an update of a systematic review. Eur Urol. 2010;58(5):701–10.CrossRefPubMed
20.
Schmidt LS, Nickerson ML, Angeloni D, Glenn GM, Walther MM, Albert PS, et al. Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene. J Urol. 2004;172(4, Part 1):1256–61.CrossRefPubMed
21.
• Egbert ND, Caoili EM, Cohan RH, Davenport MS, Francis IR, Kunju LP, et al. Differentiation of papillary renal cell carcinoma subtypes on CT and MRI. AJR Am J Roentgenol. 2013;201(2):347–55. This original research article assesses various imaging findings to differentiate between papillary carcinoma subtypes. CrossRefPubMed
22.
• Childs DD, Clingan MJ, Zagoria RJ, Sirintrapun J, Tangtiang K, Anderson A, et al. In-phase signal intensity loss in solid renal masses on dual-echo gradient-echo MRI: association with malignancy and pathologic classification. AJR American journal of roentgenology. 2014;203(4):W421–8. This original research article assesses the association of in-phase signal loss (typically associated with the presence of hemosiderin) with the presence and subtype of RCC.
23.
•• Gupta S, Kang HC, Ganeshan DM, Bathala TK, Kundra V. Diagnostic approach to hereditary renal cell carcinoma. American journal of Roentgenology. 2015;204(5):1031–41. This article provides an excellent overview of hereditary RCC syndromes and their imaging findings. CrossRefPubMed
24.
Northrup BE, Jokerst CE, Grubb RL, Menias CO, Khanna G, Siegel CL. Hereditary renal tumor syndromes: imaging findings and management strategies. Am J Roentgenol. 2012;199(6):1294–304.CrossRef
25.
Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci. 2001;98(6):3387–92.CrossRefPubMedPubMedCentral
26.
Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon MEH, Van Spaendonck KY, et al. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet. 2010;79(1):49–59.CrossRef
27.
Yamada T, Endo M, Tsuboi M, Matsuhashi T, Takase K, Higano S, et al. Differentiation of pathologic subtypes of papillary renal cell carcinoma on CT. AJR Am J Roentgenol. 2008;191(5):1559–63.CrossRefPubMed
28.
Alrashdi I, Levine S, Paterson J, Saxena R, Patel SR, Depani S, et al. Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient. Familial Cancer. 2010;9(2):239–43.CrossRefPubMed
29.
Dal Sasso AA, Belém LC, Zanetti G, Souza CA, Escuissato DL, Irion KL, et al. Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement. Respir Med. 2015;109(3):289–96.CrossRefPubMed
30.
Menko FH, van Steensel MAM, Giraud S, Friis-Hansen L, Richard S, Ungari S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009;10(12):1199–206.CrossRefPubMed
31.
Pavlovich CP, Grubb RL, Hurley K, Glenn GM, Toro J, Schmidt LS, et al. Evaluation and managment of renal tumors in the Birt-Hogg-Dube syndrome. J Urol. 2005;173(5):1482–6.CrossRefPubMed
32.
Gupta S, Kang HC, Ganeshan D, Morani A, Gautam R, Choyke PL, et al. The ABCs of BHD: an in-depth review of Birt-Hogg-Dube syndrome. AJR Am J Roentgenol. 2017;209(6):1291–6.CrossRefPubMed
33.
• Ananthakrishnan L, Kapur P, Leyendecker JR. The spectrum of renal cell carcinoma in adults. Abdom Radiol (NY). 2016;41(6):1052–65. This article reviews imaging findings of various subtypes of RCC CrossRef
34.
Rosenkrantz AB, Hindman N, Fitzgerald EF, Niver BE, Melamed J, Babb JS. MRI features of renal oncocytoma and chromophobe renal cell carcinoma. AJR Am J Roentgenol. 2010;195(6):W421–7.CrossRefPubMed
35.
36.
Agarwal PP, Gross BH, Holloway BJ, Seely J, Stark P, Kazerooni EA. Thoracic CT findings in Birt-Hogg-Dubé syndrome. Am J Roentgenol. 2011;196(2):349–52.CrossRef
37.
Gupta N, Langenderfer D, McCormack FX, Schauer DP, Eckman MH. Chest computed tomographic image screening for cystic lung diseases in patients with spontaneous pneumothorax is cost effective. Ann Am Thorac Soc. 2017;14(1):17–25.CrossRefPubMedPubMedCentral
38.
Leung AKC, Robson WLM. Tuberous sclerosis complex: a review. J Pediatr Health Care. 2007;21(2):108–14.CrossRefPubMed
39.
Orlova Ksenia A, Crino PB. The tuberous sclerosis complex. Ann N Y Acad Sci. 2009;1184(1):87–105.CrossRef
40.
Czarniecki M, Gautam R, Choyke PL, Turkbey B. Imaging findings of hereditary renal tumors, a review of what the radiologist should know. Eur J Radiol. 2018;101:8–16.CrossRefPubMed
41.
Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345–56.CrossRefPubMed
42.
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nature Reviews Disease Primers. 2016;2:16035.CrossRefPubMed
43.
Ewalt DH, Diamond N, Rees C, Sparagana SP, Delgado M, Batchelor L, et al. Long term outcomes of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex. J Urol. 2005;174(5):1764–6.CrossRefPubMed
44.
Northrup H, Krueger DA, On behalf of the International Tuberous Sclerosis Complex Consensus G. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243–54.CrossRefPubMedPubMedCentral
45.
• Manoukian SB, Kowal DJ. Comprehensive imaging manifestations of tuberous sclerosis. Am J Roentgenol. 2015;204(5):933–43. This article provides a comprehensive review of imaging findings of tuberous sclerosis. CrossRef
46.
Hindman N, Ngo L, Genega EM, Melamed J, Wei J, Braza JM, et al. Angiomyolipoma with minimal fat: can it be differentiated from clear cell renal cell carcinoma by using standard MR techniques? Radiology. 2012;265(2):468–77.CrossRefPubMedPubMedCentral
47.
Krueger DA, Northrup H. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013;49(4):255–65.CrossRefPubMedPubMedCentral
48.
49.
Gill AJ, Hes O, Papathomas T, Šedivcová M, Tan PH, Agaimy A, et al. Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients. Am J Surg Pathol. 2014;38(12):1588–602.CrossRefPubMedPubMedCentral
50.
Srigley JR, Delahunt B, Eble JN, Egevad L, Epstein JI, Grignon D, et al. The International Society of Urological Pathology (ISUP) Vancouver classification of renal neoplasia. Am J Surg Pathol. 2013;37(10)
51.
Ricketts CJ, Shuch B, Vocke CD, Metwalli AR, Bratslavsky G, Middelton L, et al. Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in Cancer. J Urol. 2012;188(6):2063–71.CrossRefPubMed
52.
53.
Newey PJ, Bowl MR, Thakker RV. Parafibromin—functional insights. J Intern Med. 2009;266(1):84–98.CrossRefPubMed
54.
Parfitt J, Harris M, Wright JM, Kalamchi S. Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism–jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review. J Oral Maxillofac Surg. 2015;73(1):194.e1–9.CrossRef
55.
du Preez H, Adams A, Richards P, Whitley S. Hyperparathyroidism jaw tumour syndrome: a pictoral review. Insights into Imaging. 2016;7(6):793–800.CrossRefPubMedPubMedCentral
56.
Choyke PL, Glenn GM, Walther MM, Zbar B, Linehan WM. Hereditary renal cancers. Radiology. 2003;226(1):33–46.CrossRefPubMed
57.
Woodward ER, Skytte AB, Cruger DG, Maher ER. Population-based survey of cancer risks in chromosome 3 translocation carriers. Genes Chromosom Cancer. 2009;49(1):52–8.CrossRef
58.
Farley MN, Schmidt LS, Mester JL, Peña-Llopis S, Pavia-Jimenez A, Christie A, et al. A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma. Mol Cancer Res. 2013;11(9):1061–71.CrossRefPubMedPubMedCentral
59.
Mester JL, Zhou M, Prescott N, Eng C. Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. Urology. 2012;79(5):1187.e1–7.CrossRef
60.
Tan M-H, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime Cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18(2):400–7.CrossRefPubMedPubMedCentral
61.
Paillerets BB-D, Lesueur F, Bertolotto C. A germline oncogenic MITF mutation and tumor susceptibility. Eur J Cell Biol. 2014;93(1):71–5.CrossRefPubMed
Metadaten
Titel
Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma
verfasst von
Yuval Freifeld
Lakshmi Ananthakrishnan
Vitaly Margulis
Publikationsdatum
01.10.2018
Verlag
Springer US
Erschienen in
Current Urology Reports / Ausgabe 10/2018
Print ISSN: 1527-2737
Elektronische ISSN: 1534-6285
DOI
https://doi.org/10.1007/s11934-018-0829-5

Weitere Artikel der Ausgabe 10/2018

Current Urology Reports 10/2018 Zur Ausgabe

Lower Urinary Tract Symptoms & Voiding Dysfunction (J Sandhu, Section Editor)

Troubleshooting Interstim Sacral Neuromodulation Generators to Recover Function

FEMALE UROLOGY (L COX, SECTION EDITOR)

Laser Therapy for Genitourinary Syndrome of Menopause

New Imaging Techniques (S Rais-Bahrami and K Porter, Section Editors)

Imaging Protocols for Active Surveillance in Renal Cell Carcinoma

Prostate Cancer (S Prasad, Section Editor)

Improving the Specificity of PSA Screening with Serum and Urine Markers

New Imaging Techniques (S Rais-Bahrami and K Porter, Section Editors)

Approaches to Eliminate Radiation Exposure in the Management of Pediatric Urolithiasis

Urothelial Cancer (S Daneshmand, Section Editor)

Enhanced Endoscopy in Bladder Cancer

Neu im Fachgebiet Urologie

Adjuvante Immuntherapie verlängert Leben bei RCC

25.04.2024 Nierenkarzinom Nachrichten

Nun gibt es auch Resultate zum Gesamtüberleben: Eine adjuvante Pembrolizumab-Therapie konnte in einer Phase-3-Studie das Leben von Menschen mit Nierenzellkarzinom deutlich verlängern. Die Sterberate war im Vergleich zu Placebo um 38% geringer.

Bei Senioren mit Prostatakarzinom auf Anämie achten!

24.04.2024 DGIM 2024 Nachrichten

Patienten, die zur Behandlung ihres Prostatakarzinoms eine Androgendeprivationstherapie erhalten, entwickeln nicht selten eine Anämie. Wer ältere Patienten internistisch mitbetreut, sollte auf diese Nebenwirkung achten.

Stufenschema weist Prostatakarzinom zuverlässig nach

22.04.2024 Prostatakarzinom Nachrichten

Erst PSA-Test, dann Kallikrein-Score, schließlich MRT und Biopsie – ein vierstufiges Screening-Schema kann die Zahl der unnötigen Prostatabiopsien erheblich reduzieren: Die Hälfte der Männer, die in einer finnischen Studie eine Biopsie benötigten, hatte einen hochgradigen Tumor.

Harnwegsinfektprophylaxe: Es geht auch ohne Antibiotika

20.04.2024 EAU 2024 Kongressbericht

Beim chronischen Harnwegsinfekt bei Frauen wird bisher meist eine Antibiotikaprophylaxe eingesetzt. Angesichts der zunehmenden Antibiotikaresistenz erweist sich das Antiseptikum Methenamin-Hippurat als vielversprechende Alternative, so die Auswertung einer randomisierten kontrollierten Studie.

Update Urologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen
Bildnachweise