Published online before print December 2, 2002, 10.1148/radiol.2261011296
Hereditary Renal Cancers1
Peter L. Choyke, MD,
Gladys M. Glenn, MD, PhD,
McClellan M. Walther, MD,
Berton Zbar, MD and
W. Marston Linehan, MD
1 From the Imaging Sciences Program (P.L.C.), Genetic Epidemiology Branch, DCEG, NCI (G.M.G.), Urologic Oncology Branch, CCR, NCI (M.M.W., W.M.L.), and Laboratory of Immunobiology, NCI-Frederick (B.Z.), National Institutes of Health, 10 Center Dr, Rm 1C660, Bethesda, MD 20892-1182. Received July 30, 2001; revision requested September 24; revision received January 4, 2002; accepted January 29; updated July 31. Address correspondence to P.L.C. (e-mail: pchoyke@nih.gov).
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Figure 1. Schematic shows comparison between sporadic and inherited tumors. Inherited tumors of the kidney are more likely to be multiple and bilateral, to occur at a younger age, and are often detected at a smaller size during screening tests.
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Figure 2. Photomicrographs show the most frequent histologic types of renal cancers, and bar graph shows their prevalence in the general population. Clear cell carcinoma contains lipid-laden cells that have a lucent cytoplasm. Fibrovascular stalks with frondlike projections are characteristic of papillary tumors. Chromophobe carcinomas stain poorly. Oncocytomas demonstrate large dense cells owing to cytoplasm rich in mitochondria. (Hematoxylin-eosin stain; original magnification, x40.)
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Figure 3. VHL disease in a 22-year-old man in whom multiple cysts (straight arrows) and solid renal cancers (curved arrows) were incidentally discovered on transverse CT image obtained because of abdominal pain. The appearance of cysts and solid masses is typical of lesions found in VHL disease.
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Figure 4. VHL disease in a 31-year-old woman. Screening transverse CT image shows left cystic lesion. Solid nodules (arrows) composed of clear cell carcinoma are growing in the wall of the cyst. Complex cystic and solid lesions are a hallmark of VHL disease.
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Figure 5. VHL disease in a 44-year-old man who presented with hematuria. Transverse CT scan shows large solid renal cell carcinoma (solid arrow) which had metastasized to the lung. A smaller contralateral tumor (open arrow) is also present. While most VHL disease-associated renal cancers are low grade, lesions can become aggressive and lead to advanced-stage disease. This patient died of metastatic renal cancer approximately 8 months after this image was obtained.
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Figure 6. TS with AMLs in a 27-year-old woman. Transverse CT image demonstrates numerous bilateral AMLs (arrows). Facial angiofibromas were also present. Renal function was normal despite the number of lesions. Renal manifestations of TS include AMLs, cysts, and occasional renal cancers.
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Figure 7a. Lymphangiomyomatosis in a 34-year-old woman who presented with severe shortness of breath. (a) Transverse CT image reveals numerous pulmonary cysts (arrows) characteristic of lymphangiomyomatosis. Transverse CT images obtained (b) before and (c) after contrast medium administration reveal tiny AMLs in the right kidney (small arrows) and a nonfatty AML (large arrow) in the left kidney that is hyperattenuating relative to kidney parenchyma before contrast material administration and enhances homogeneously after contrast administration. AML was confirmed at biopsy. Over one-third of patients with lymphangiomyomatosis demonstrate nonfatty AMLs in their kidneys. Such lesions may be confused with renal cancers, and biopsy may be needed.
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Figure 7b. Lymphangiomyomatosis in a 34-year-old woman who presented with severe shortness of breath. (a) Transverse CT image reveals numerous pulmonary cysts (arrows) characteristic of lymphangiomyomatosis. Transverse CT images obtained (b) before and (c) after contrast medium administration reveal tiny AMLs in the right kidney (small arrows) and a nonfatty AML (large arrow) in the left kidney that is hyperattenuating relative to kidney parenchyma before contrast material administration and enhances homogeneously after contrast administration. AML was confirmed at biopsy. Over one-third of patients with lymphangiomyomatosis demonstrate nonfatty AMLs in their kidneys. Such lesions may be confused with renal cancers, and biopsy may be needed.
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Figure 7c. Lymphangiomyomatosis in a 34-year-old woman who presented with severe shortness of breath. (a) Transverse CT image reveals numerous pulmonary cysts (arrows) characteristic of lymphangiomyomatosis. Transverse CT images obtained (b) before and (c) after contrast medium administration reveal tiny AMLs in the right kidney (small arrows) and a nonfatty AML (large arrow) in the left kidney that is hyperattenuating relative to kidney parenchyma before contrast material administration and enhances homogeneously after contrast administration. AML was confirmed at biopsy. Over one-third of patients with lymphangiomyomatosis demonstrate nonfatty AMLs in their kidneys. Such lesions may be confused with renal cancers, and biopsy may be needed.
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Figure 8. TS and renal cancer in a 28-year-old woman. Transverse CT image demonstrates a solid mass (arrow) in the right kidney. Differential diagnostic considerations included nonfatty AML and renal cancer. Percutaneous biopsy demonstrated clear cell carcinoma, which was removed with partial nephrectomy.
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Figure 9a. Hereditary papillary renal cancer. Transverse CT images demonstrate bilateral papillary renal cancers (arrows) in (a) a mother and (b) her son. The tumors are characteristically poorly enhancing and might be confused with cysts. Careful enhancement measurements may be necessary to be certain that the lesions are enhancing. Papillary renal cancers are considered less vascular than other tumor types.
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Figure 9b. Hereditary papillary renal cancer. Transverse CT images demonstrate bilateral papillary renal cancers (arrows) in (a) a mother and (b) her son. The tumors are characteristically poorly enhancing and might be confused with cysts. Careful enhancement measurements may be necessary to be certain that the lesions are enhancing. Papillary renal cancers are considered less vascular than other tumor types.
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Figure 10a. Birt-Hogg-Dubé syndrome in a 43-year-old man with a history of recurrent pneumothorax. Multiple fibrofolliculomas were present on the face. (a) Transverse chest CT image obtained with the patient prone demonstrates pneumothorax (black arrows) and several pulmonary cysts (white arrows). (b) Transverse abdominal CT image demonstrates bilateral solid renal cancers (arrows). Right-sided nephrectomy revealed chromophobe carcinomas.
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Figure 10b. Birt-Hogg-Dubé syndrome in a 43-year-old man with a history of recurrent pneumothorax. Multiple fibrofolliculomas were present on the face. (a) Transverse chest CT image obtained with the patient prone demonstrates pneumothorax (black arrows) and several pulmonary cysts (white arrows). (b) Transverse abdominal CT image demonstrates bilateral solid renal cancers (arrows). Right-sided nephrectomy revealed chromophobe carcinomas.
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Figure 11a. Birt-Hogg-Dubé syndrome in a 38-year-old woman who was asymptomatic but underwent screening because of family history of Birt-Hogg-Dubé syndrome (facial folliculomas). (a) Transverse chest CT image obtained with patient prone demonstrates several small pulmonary cysts (arrows). (b) Transverse abdominal CT image demonstrates multiple solid renal cancers (arrows) that were histologically classified as chromophobe carcinomas at surgery.
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Figure 11b. Birt-Hogg-Dubé syndrome in a 38-year-old woman who was asymptomatic but underwent screening because of family history of Birt-Hogg-Dubé syndrome (facial folliculomas). (a) Transverse chest CT image obtained with patient prone demonstrates several small pulmonary cysts (arrows). (b) Transverse abdominal CT image demonstrates multiple solid renal cancers (arrows) that were histologically classified as chromophobe carcinomas at surgery.
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Figure 12. Hereditary renal oncocytoma in a 58-year-old man. Transverse CT image demonstrates bilateral solid oncocytomas of the kidney. A stellate scar (arrow) is present within the lesion in the left kidney, suggesting the possibility of renal oncocytoma; however, the finding was nonspecific and surgery was performed. Renal oncocytomas were confirmed histologically. After removal of the left-sided lesion, the right-sided lesions (not shown) were followed. Although no other family members have been identified, the multiplicity of lesions in this cases suggests a genetic basis.
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Figure 13. Hereditary nonpolyposis colon cancer (Lynch type 2) in a 56-year-old man who presented with hematuria. Family history was strongly positive for colon carcinoma in three relatives and for endometrial carcinoma in a first-degree female relative. Transverse CT image demonstrates invasive transitional cell carcinoma (curved arrow) of the renal pelvis with invasion into the renal parenchyma (arrow). Nephroureterectomy was performed. The family history suggests Lynch type 2 spectrum of hereditary tumors, which includes tumors of colon, endometrium, urothelium, stomach, small bowel, pancreas, biliary sytem, and ovaries.
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Figure 14. Medullary carcinoma of the kidney in a 14-year-old African American girl who had advanced renal cancer at the time of presentation. The patient had the sickle cell trait. Coronal T1-weighted gadolinium-enhanced MR image (repetition time, 500 msec; echo time, 12 msec) demonstrates a large left renal cancer (arrow) with extensive lymph node metastases (arrowheads). The pathologic diagnosis was medullary carcinoma of the kidney. The patient died within 5 months of this image acquisition.
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Figure 15a. Intraoperative US for guidance during nephron-sparing surgery in hereditary renal cancer (VHL disease). Intraoperative renal US is used to identify lesions deep to the renal surface that are not visible to the surgeon. (a) Transverse scan reveals a 1-cm solid renal mass (t) just below the renal surface (arrows) in a patient with VHL disease. Cursors were placed on the lesion margins in order to measure the diameter. (b) Longitudinal scan reveals a mixed solid and cystic lesion (arrows) deep in the parenchyma of kidney adjacent to the renal pelvis. Both lesions were successfully removed.
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Figure 15b. Intraoperative US for guidance during nephron-sparing surgery in hereditary renal cancer (VHL disease). Intraoperative renal US is used to identify lesions deep to the renal surface that are not visible to the surgeon. (a) Transverse scan reveals a 1-cm solid renal mass (t) just below the renal surface (arrows) in a patient with VHL disease. Cursors were placed on the lesion margins in order to measure the diameter. (b) Longitudinal scan reveals a mixed solid and cystic lesion (arrows) deep in the parenchyma of kidney adjacent to the renal pelvis. Both lesions were successfully removed.
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Figure 16a. Nephron-sparing surgery in a 38-year-old man with hereditary renal cancer (VHL disease). The patient had undergone prior left nephrectomy. (a) Transverse CT image demonstrates a large mass (arrow) in the right kidney. To preserve renal function, nephron-sparing partial nephrectomy was performed and retroperitoneal fat was packed in the wound. (b) Postoperative transverse CT image demonstrates fat within the wound (arrow) at the site of disease. No recurrence has been observed during 4 years of observation.
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Figure 16b. Nephron-sparing surgery in a 38-year-old man with hereditary renal cancer (VHL disease). The patient had undergone prior left nephrectomy. (a) Transverse CT image demonstrates a large mass (arrow) in the right kidney. To preserve renal function, nephron-sparing partial nephrectomy was performed and retroperitoneal fat was packed in the wound. (b) Postoperative transverse CT image demonstrates fat within the wound (arrow) at the site of disease. No recurrence has been observed during 4 years of observation.
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Figure 17a. Radio-frequency ablation of renal tumor due to hereditary renal cancer in a 35-year-old man. (a) Transverse CT image demonstrates a growing solid mass (arrow) in the lower pole of the left kidney. Radio-frequency ablation was performed. (b) Follow-up transverse CT image obtained 9 months after ablation demonstrates damaged renal parenchyma (arrows) at the tumor site. Enhancement of this area was less than 10 HU. Regional defects can be seen for more than 2 years after radio-frequency ablation; however, this treatment method is much less invasive than surgery. (Images courtesy of Bradford J. Wood, MD, National Institutes of Health, Bethesda, Md.)
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Figure 17b. Radio-frequency ablation of renal tumor due to hereditary renal cancer in a 35-year-old man. (a) Transverse CT image demonstrates a growing solid mass (arrow) in the lower pole of the left kidney. Radio-frequency ablation was performed. (b) Follow-up transverse CT image obtained 9 months after ablation demonstrates damaged renal parenchyma (arrows) at the tumor site. Enhancement of this area was less than 10 HU. Regional defects can be seen for more than 2 years after radio-frequency ablation; however, this treatment method is much less invasive than surgery. (Images courtesy of Bradford J. Wood, MD, National Institutes of Health, Bethesda, Md.)
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Copyright © 2003 by the Radiological Society of North America.
