Contributors of Campbell-Walsh-Wein, 12th edition
William P. Parker, Matthew T. Gettman, Steven C. Campbell, Brian R. Lane, Phillip M. Pierorazio, Panagiotis Kallidonis, Evangelos Liatsikos, Thomas W. Jarrett, Surena F. Matin, Armine K. Smith, Ramaprasad Srinivasan, and W. Marston Linehan
Classification
Renal masses can be malignant, benign, or inflammatory ( Table 28.1 ), or they can be classified based on radiographic appearance (simple cystic, complex cystic, solid) ( Table 28.2 ).
MALIGNANT | BENIGN | |
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Renal Cell Carcinoma (RCC) | Nephroblastic Tumors a | Cystic Lesions |
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Carcinoma Associated with Neuroblastoma
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Urothelium-Based Cancers
Sarcomas
| Metastasis Invasion by Adjacent Neoplasm | Vascular Lesions
Pseudotumor Inflammatory
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Simple Cystic | Strongly Enhancing Mass | Infiltrative Mass |
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Complex Cystic | Moderately Enhancing Solid Mass | Calcified Mass |
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Fat-Containing Mass | Multifocal/Bilateral Masses | |
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Benign renal tumors
Renal cysts
Epidemiology, etiology, and pathophysiology.
Renal cyst disease is the most common benign renal tumor. Up to 10% of the population may harbor a renal cyst, with putative risk factors being age, male gender, hypertension, and worsening renal function.
Evaluation.
To aid in the evaluation of renal cyst disease, the Bosniak classification ( Table 28.3 ) is a commonly used method to characterize cysts and their risk of malignancy.
BOSNIAK CLASSIFICATION | RADIOGRAPHIC FEATURES | RISK OF MALIGNANCY | MANAGEMENT |
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I |
| None | Surveillance not necessary |
II |
| Minimal | Surveillance not necessary |
Hyperdense lesion: ≤3 cm, well marginated, with no unequivocal enhancement | Minimal | Periodic surveillance | |
IIF |
| 3%–5% | Periodic surveillance |
Hyperdense lesion: >3 cm or totally intrarenal with no enhancement | 5%–10% | Periodic surveillance | |
III | “Indeterminate,” thickened irregular or smooth walls or septa in which measurable enhancement is present | 50% | Surgical excision a |
IV | Clearly malignant lesions that can have all the criteria of category III but also contain enhancing soft-tissue components | 75%–90% | Surgical excision a |
a Surgical excision should be considered if the patient is in good health. Active surveillance is an option for select patients. Thermal ablation is probably best avoided for cystic lesions because of concern about tumor spillage.
Management options.
For most simple renal cysts, no additional follow-up is required, with the maximal intervention of serial imaging recommended for Bosniak IIF lesions.
Surgical resection or ablation is recommended for Bosniak III/IV lesions.
Management can include aspiration, cyst decortication, cyst resection, sclerotherapy, arterial embolization, and even nephrectomy depending on the cause and symptom. Acquired cystic kidney disease (ACKD) is associated with a significant increase in malignancy risk and should be followed closely.
Oncocytoma
Epidemiology, etiology, and pathophysiology.
Up to 25% of renal masses smaller than 3 cm represent oncocytomas. The most common benign enhancing renal mass. Associated with Birt-Hogg-Dube syndrome: pulmonary cysts, spontaneous pneumothoraces, and fibrofolliculomas.
Oncocytoma can be associated with perirenal fat invasion and renal vein invasion, findings that carry prognostic significance in renal cell carcinoma (RCC) but do not in oncocytoma and should not be interpreted as an aggressive pathology
Evaluation.
Hypervascularity and a central scar on axial imaging, but these alone are insufficient for a definitive diagnosis. Histologically similar to chromophobe RCC, and immunohistochemical staining may be required to distinguish the two.
Management.
When diagnosed by renal mass biopsy, the role of active surveillance (AS) has been explored with favorable results
Angiomyolipoma
Diagnosis.
Contrary to other benign renal masses, the diagnosis of angiomyolipoma (AML) can be made on imaging. The presence of macroscopic fat on computed tomography (CT) or magnetic resonance imaging (MRI) is diagnostic of AML. On CT the presence of intralesional fat (−15 to −20 Hounsfield units [HU]) on nonenhanced series is diagnostic. Tuberous sclerosis is associated with the development of multifocal and bilateral renal AML and is associated with activation of the mTOR pathway.
Management.
The management of patients with an AML should be individualized on the basis of sporadic versus syndromic AML, the presence of symptoms, the perceived risk of hemorrhage ( Fig. 28.1 ), and with the goal of preserving renal function. The treatment of choice in patients with acute hemorrhage is selective renal angioembolization. Everolimus is indicated for the management of larger, multifocal AMLs in patients with tuberous sclerosis complex (TSC) and lymphangioleiomyomatosis (LAM).
Other benign tumors
Other tumors include papillary adenoma, metanephric adenoma, cystic nephroma/mixed epithelial-stromal tumors, leiomyoma, and other rare tumors.
Malignant renal tumors
Renal cell carcinoma
Incidence
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Up to 2%–3% of all adult malignant neoplasms, with a male-to-female predominance of 1.9 to 1. RCC typically is diagnosed between 55 and 75 years of age.
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The most lethal of the common urologic cancers.
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Usually sporadic; only 4%–6% are believed to be familial.
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The incidence has increased since the 1970s by an average of 3% per year, with more prevalent use of ultrasonography and CT for other nonspecific abdominal complaints, which increases the relative risk by 1.4 to 2.5-fold compared with control participants. Hypertension and obesity are also associated with increased prevalence of RCC.
Etiology.
The strongest risk factor for RCC is tobacco exposure, which provides a relative risk of 1.4 to 2.5 compared with control participants.
Obesity provides a relative risk of 1.07 for each additional unit of body mass index.
Hypertension appears to be the third major causative factor for RCC. Approximately 4%–6% of RCC is familial in origin.
Familial renal cell carcinoma and molecular genetics.
The distinct nature of the various subtypes of RCC and advances in molecular genetics have contributed to a major revision in the histologic classification of this malignancy ( Tables 28.4 and 28.5 ).
SYNDROME | PREDISPOSING GENE (CHROMOSOME) | RENAL TUMOR HISTOLOGY AND OTHER MAJOR CLINICAL MANIFESTATIONS | RECOMMENDED MANAGEMENT FOR RENAL TUMORS | POTENTIAL THERAPEUTIC TARGETS |
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von Hippel-Lindau disease (VHL) | VHL (3p25) |
|
| HIF-VEGF pathway |
Hereditary papillary renal carcinoma (HPRC) | MET (7q31) | Multiple, bilateral type 1 papillary RCC |
| MET kinase |
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) | Fumarate hydratase (FH) (1q42-43) |
| Surgical excision, preference for PN but only when wide margins can be achieved | HIF-VEGF pathway; antioxidant response pathway; reductive carboxylation pathway |
Succinate dehydrogenase-deficient RCC (SDH-RCC) |
|
| Surgical excision, preference for PN but only when wide margins can be achieved | HIF-VEGF pathway; reductive carboxylation pathway |
Birt-Hogg-Dube syndrome (BHD) | Folliculin (17p11.2) |
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| mTOR pathway |
PTEN hamartoma tumor syndrome (Cowden syndrome) | PTEN (10q23) |
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| |
Tuberous sclerosis complex (TSC) |
|
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| mTOR pathway |
BAP1 tumor predisposition syndrome | BAP1 (3p21.2) | Clear cell RCC; can be high grade | Surgical excision, preference for nephron-sparing approaches | To be determined |
MiTF-associated cancer syndrome | MiTF (3p14.1–p12.3) | Not defined | To be determined | To be determined |
TUMOR | AGE OF ONSET, MEAN (RANGE), YEARS | INCIDENCE (%) |
---|---|---|
Central Nervous System | ||
| 25 (1–68) | 25–60 |
| 22 (12–50) | 10–15 |
| 30 (9–70) | 60–80 |
| 33 (9–78) | 44–72 |
| 32 (12–46) | 10–25 |
| 33 (11–66) | 13–50 |
Visceral | ||
| 39 (13–70) | 25–75 |
| 39 (13–70) | 20–60 |
| 27 (5–58) | 10–25 |
| 36 (5–70) | 11–17 |
| 36 (5–70) | 45–75 |
| Unknown | 25–60 |
| Unknown (16–46) | Unknown |
Pathology.
All RCCs are, by definition, adenocarcinomas, derived from renal tubular epithelial cells ( Table 28.6 ).
HISTOLOGY a | FAMILIAL FORM AND GENETIC FACTORS | GROSS CHARACTERISTICS | MICROSCOPIC PATHOLOGIC CHARACTERISTICS | OTHER CHARACTERISTICS |
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Common Subtypes | ||||
Clear cell RCC (70%–80%) |
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Papillary RCC Type 1 (5%–10%) |
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Papillary RCC type 2 (5%–10%) |
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Chromophobe RCC (3%–5%) |
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Clear cell papillary RCC (∼5%) | VHL disease | Well-circumscribed, well-developed capsule |
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Unclassified RCC (1%–3%) | Unknown | Varied | Varied |
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Rare Subtypes (Each Represents <1%) | ||||
Carcinoma of the collecting ducts of Bellini (collecting duct carcinoma) |
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Renal medullary carcinoma | Associated with sickle cell trait |
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Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)–associated RCC |
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Succinate dehydrogenase-deficient renal carcinoma |
| Solitary lesion |
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MiT family translocation RCC (includes Xp11 translocation RCC and t(6;11) RCC) | Various mutations involving chromosome Xp11.2 resulting in TFE3 gene fusion | Well-circumscribed, tan-yellow tumor |
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Acquired cystic disease-associated RCC |
| Cystic degeneration |
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Multilocular cystic clear cell renal neoplasm of low malignant potential | Identical to clear cell RCC | Well-circumscribed mass of small and large cysts |
| Almost uniformly benign clinical behavior |
Tubulocystic RCC | Unknown | Multiple small to medium renal cysts with spongy appearance |
| Favorable prognosis |
Mucinous tubular and spindle cell carcinoma | Unknown | Well-circumscribed, tan-white-pink tumors centered in medulla | Mixture of tubules and spindle-shaped epithelial cells; mucin background | Favorable prognosis |
Hybrid oncocytic chromophobe tumor |
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| Shares features with chromophobe RCC and oncocytoma; often coexists with these tumors in BHD patients | Generally good prognosis |