TY - JOUR
T1 - Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma
AU - Freifeld, Yuval
AU - Ananthakrishnan, Lakshmi
AU - Margulis, Vitaly
PY - 2018/10/1
Y1 - 2018/10/1
N2 - 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.
AB - 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.
KW - Birt-Hogg-Dubé syndrome
KW - Hereditary
KW - Hereditary papillary RCC
KW - Imaging
KW - Renal cell carcinoma
KW - Von Hippel-Lindau
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U2 - 10.1007/s11934-018-0829-5
DO - 10.1007/s11934-018-0829-5
M3 - Review article
C2 - 30116909
AN - SCOPUS:85051693239
VL - 19
JO - Current Urology Reports
JF - Current Urology Reports
SN - 1527-2737
IS - 10
M1 - 82
ER -