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Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®)

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Cellular Classification

Wilms Tumor
        Favorable histology
        Anaplastic histology
        Nephrogenic rests
Clear Cell Sarcoma of the Kidney
Rhabdoid Tumors of the Kidney
        Rhabdoid predisposition syndrome
Congenital Mesoblastic Nephroma
Renal Cell Carcinoma
Neuroepithelial Tumors of the Kidney
Desmoplastic Small Round Cell Tumor of the Kidney
Cystic Partially Differentiated Nephroblastoma
Multilocular Cystic Nephroma
Primary Renal Synovial Sarcoma
Anaplastic Sarcoma of the Kidney

Wilms Tumor

Although most patients with a histologic diagnosis of Wilms tumor fare well with current treatment, approximately 10% of patients have histopathologic features that are associated with a poorer prognosis, and in some types, with a high incidence of relapse and death. Wilms tumor can be separated into three prognostic groups on the basis of histopathology—favorable histology, anaplastic histology, and nephrogenic rests.

Favorable histology

Histologically, Wilms tumor mimics development of a normal kidney consisting of three cell types: blastemal, epithelial (tubules), and stromal. Not all tumors are triphasic, and monophasic patterns may present diagnostic difficulties. While associations between histologic features and prognosis or responsiveness to therapy have been suggested, with the exception of anaplasia, none of these features have reached statistical significance and therefore do not direct the initial therapy.[1]

Anaplastic histology

Anaplastic histology accounts for about 10% of Wilms tumors. Anaplastic histology is the single most important histologic predictor of response and survival in patients with Wilms tumor. Tumors occurring in older patients (aged 10–16 years) have a higher incidence of anaplastic histology.[2] There are two histologic criteria for anaplasia, both of which must be present for the diagnosis. They are the presence of multipolar polyploid mitotic figures with marked nuclear enlargement and hyperchromasia. Changes on 17p consistent with mutations in the p53 gene have been associated with foci of anaplastic histology.[3] All of these characteristics lend support to the hypothesis that anaplasia evolves as a late event from a subpopulation of Wilms tumor cells that have acquired additional genetic lesions.[4] Anaplasia correlates best with responsiveness to therapy rather than to aggressiveness. It is most consistently associated with poor prognosis when it is diffusely distributed and when identified at advanced stages. These tumors are more resistant to the chemotherapy traditionally used in children with favorable-histology Wilms tumor.[5] This is the reason why focal anaplasia and diffuse anaplasia are differentiated, both pathologically and therapeutically. Focal anaplasia is defined as the presence of one or a few sharply localized regions of anaplasia within a primary tumor. Focal anaplasia does not confer as poor a prognosis as does diffuse anaplasia.[5-7]

Nephrogenic rests

Nephrogenic rests are abnormally retained embryonic kidney precursor cells arranged in clusters. Nephrogenic rests are found in about 1% of unselected pediatric autopsies, 35% of kidneys with unilateral Wilms tumors, and in nearly 100% of kidneys with bilateral Wilms tumors.[8,9] The term nephroblastomatosis is defined as the presence of diffuse or multifocal nephrogenic rests. There are two types: intralobar nephrogenic rests and perilobar nephrogenic rests. Diffuse hyperplastic perilobar nephroblastomatosis is defined as nephroblastomatosis forming a thick rind around one or both kidneys and is considered a preneoplastic condition.[1] Patients with any type of nephrogenic rest in a kidney removed for nephroblastoma should be considered at increased risk for tumor formation in the remaining kidney. This risk decreases with patient age.[10] Extrarenal nephrogenic rests rarely occur, but may develop into extrarenal Wilms tumor.[11]

Clear Cell Sarcoma of the Kidney

Clear cell sarcoma of the kidney is not a Wilms tumor variant, but it is an important primary renal tumor associated with a significantly higher rate of relapse and death than favorable-histology Wilms tumor.[12] In addition to pulmonary metastases, clear cell sarcoma also spreads to bone, brain, and soft tissue. The classic pattern of clear cell sarcoma of the kidney is defined by nests or cords of cells separated by regularly spaced fibrovascular septa.[12] Previously, relapses have occurred in long intervals after the completion of chemotherapy (up to 10 years), however with current therapy relapses after 3 years are uncommon.[13] The brain is a frequent site of recurrent disease.[14,15]

While little is known about the biology of clear cell sarcoma of the kidney, the t(10;17)(q22;p13) translocation has been reported in clear cell sarcoma of the kidney. As a result of the translocation, the YWHAE-FAM22 fusion transcript is formed; this transcript was detected in 12% of clear cell sarcoma of the kidney cases in one series.[16]

Rhabdoid Tumors of the Kidney

Rhabdoid tumors are extremely aggressive malignancies that generally occur in infants and young children. The most common locations are the kidney and central nervous system (CNS) (atypical teratoid/rhabdoid tumor), although rhabdoid tumors can also arise in most soft tissue sites. Initially they were thought to be a rhabdomyosarcomatoid variant of Wilms tumor when they occurred in the kidney.

Histologically, the most distinctive features of rhabdoid tumors of the kidney are rather large cells with large vesicular nuclei, a prominent single nucleolus, and in some cells, the presence of globular eosinophilic cytoplasmic inclusions. A distinct clinical presentation with fever, hematuria, young age (mean age 11 months), and high tumor stage at presentation suggests a diagnosis of rhabdoid tumor of the kidney.[17] Approximately two-thirds of patients will present with advanced stage. Bilateral cases have been reported.[18] Rhabdoid tumors of the kidney tend to metastasize to the lungs and the brain. As many as 10% to 15% of patients with rhabdoid tumors of the kidney also have CNS lesions.[19] Relapses occur early (median time from diagnosis is 8 months).[18,20]

Rhabdoid tumors in all anatomical locations have a common genetic abnormality—the mutation and/or deletion of the SMARCB1 (also called hSNF5 or INI1) gene located at chromosome 22q11. This gene encodes a component of the SWI/SNF chromatin remodeling complex that has an important role in transcriptional regulation.[21,22] Based on gene expression analysis in rhabdoid tumors, it is hypothesized that rhabdoid tumors arise within early progenitor cells during a critical developmental window in which loss of SMARCB1 directly results in repression of neural development, loss of cyclin-dependent kinase inhibition, and trithorax/polycomb dysregulation.[23] Identical mutations may give rise to a brain or kidney tumor. Germline mutations of SMARCB1 have been documented for patients with one or more primary tumors of the brain and/or kidney, consistent with a genetic predisposition to the development of rhabdoid tumors.[24,25] Approximately 35% of patients with rhabdoid tumors have germline SMARCB1 alterations.[26] In most cases, the mutations are de novo, and not inherited from a parent. Germline mosaicism has been suggested for several families with multiple affected siblings. It appears that those patients with germline mutations may have the worst prognosis.[27]

Rhabdoid predisposition syndrome

Early-onset, multifocal disease and familial cases strongly support the possibility of a rhabdoid predisposition syndrome. This has been confirmed by the presence of constitutional mutations of SMARCB1 in rare familial cases and in a subset of patients with apparently sporadic rhabdoid tumors. In a cohort of 74 rhabdoid tumors, 60% of the tumors occurring before age 6 months were linked to the presence of a germline mutation. However, in this same series, tumors that occurred after age 2 years were also found to be associated with germline mutations (7 of 35 cases). Germline analysis is suggested for all individuals with rhabdoid tumors, whatever their ages. Genetic counseling is recommended given the low-but-actual risk of familial recurrence. In cases of mutations, parental screening should be considered, although such screening carries a low probability of positivity. Prenatal diagnosis is feasible and should be considered.[28]

Recommendations for surveillance in patients with germline SMARCB1 mutations have been developed based on the epidemiology and clinical course of rhabdoid tumors. These recommendations were developed by a group of pediatric cancer genetic experts (including oncologists, radiologists, and geneticists). They have not been formally studied to confirm the benefit of screening patients with germline SMARCB1 mutations. The aggressive natural history of the disease, apparently high penetrance, and well-defined age of onset for CNS atypical teratoid/rhabdoid tumor suggest that screening could prove beneficial. Given the potential survival benefit of surgically resectable disease, it is postulated that early detection might improve overall survival.[29] From birth to age 1 year, it is suggested that patients have thorough physical and neurologic examinations, as well as head ultrasounds monthly to assess for the development of a CNS tumor. It is suggested that patients undergo abdominal ultrasounds with focus on the kidneys every 2 to 3 months to assess for renal lesions. From age 1 year to approximately age 4 years, after which the risk of developing a new rhabdoid tumor rapidly declines, it is suggested that brain and spine magnetic resonance imaging (MRI) and abdominal ultrasound be performed every 6 months.[29]

Congenital Mesoblastic Nephroma

Mesoblastic nephroma comprises about 5% of childhood kidney tumors. It is the most common kidney tumor found in infants younger than 3 months. The median age of diagnosis is 1 to 2 months and more than 90% of cases appear within the first year of life. Twice as many males are diagnosed as females. The diagnosis should be questioned when applied to individuals older than 2 years.[30] When diagnosed in the first 7 months of life, the 5-year event-free survival (EFS) rate is 94% and the overall survival (OS) rate is 96%.[31]

Grossly, mesoblastic nephromas appear as solitary, unilateral masses indistinguishable from nephroblastoma. Microscopically, they consist of spindled mesenchymal cells. They can be divided into two major types: classic and cellular. Classic mesoblastic nephroma is often diagnosed by prenatal ultrasound or within 3 months after birth and closely resembles infantile fibromatosis.[32] Infantile fibrosarcoma and cellular mesoblastic nephroma contain the same t(12;15)(p13;q25) chromosomal translocation suggestive of a potential linkage.[33] The risk for recurrence within mesoblastic nephroma is closely associated with the presence of a cellular component and with stage.[32]

Renal Cell Carcinoma

Malignant epithelial tumors arising in the kidneys of children account for more than 5% of new pediatric renal tumors; therefore, they are more common than clear cell sarcoma of the kidney or rhabdoid tumors of the kidney. Renal cell carcinoma (RCC), the most common primary malignancy of the kidney in adults, occurs rarely in children younger than 15 years. In the older age group of adolescents (aged 15–19 years), approximately two-thirds of renal malignancies are RCC.[34] The annual incidence rate is approximately 4 per 1 million children compared with an incidence of Wilms tumor of the kidney that is at least 29-fold higher. RCC in young patients has a different genetic and morphologic spectrum than that seen in older adults.[35-38]

RCC may be associated with other conditions, including the following:

  • von Hippel-Lindau (VHL) disease: VHL disease is an autosomal dominant condition in which blood vessels within the retina and cerebellum grow excessively.[35] The gene for VHL disease is located on chromosome 3p25.3 and is a tumor-suppressor gene, which is either mutated or deleted in patients with the syndrome.

    Screening for the VHL gene is available.[39] To detect clear cell renal carcinoma in these individuals when the lesions are less than 3 cm and nephron-sparing surgery can be performed, annual screening with abdominal ultrasound or MRI is recommended beginning at age 8 to 11 years.[29]

  • Tuberous sclerosis: In tuberous sclerosis, the renal lesions may actually be epithelioid angiomyolipoma (also called perivascular epithelioid cell tumor or PEComa), which is associated with aggressive or malignant behavior and expresses melanocyte and smooth muscle markers.[40,41]

  • Familial RCC: Familial RCC has been associated with an inherited chromosome translocation involving chromosome 3.[42] A high incidence of chromosome 3 abnormalities has also been demonstrated in nonfamilial renal tumors.

    Succinate dehydrogenase (SDHB, SDHC, and SDHD) is a Krebs cycle enzyme gene that has been associated with the development of familial renal cell carcinoma occurring with pheochromocytoma/paraganglioma. Germline mutations in a subunit of the gene have been reported in individuals with renal cancer with no history of pheochromocytoma.[43,44]

  • Renal medullary carcinoma: A rare subtype of RCC, renal medullary carcinoma, may be associated with sickle cell hemoglobinopathy.[45] Renal medullary carcinomas are highly aggressive malignancies characterized clinically by a high stage at the time of detection, with widespread metastases and lack of response to chemotherapy and radiation therapy.[46][ Level of evidence: 3iiA] Survival is poor and ranges from 2 weeks to 15 months, with a mean survival of 4 months.[45-48]

  • Hereditary leiomyomatosis: Hereditary leiomyomatosis (of skin and uterus) and RCC is a distinct phenotype caused by dominant inheritance of a mutation in the fumarate hydratase gene. Screening for RCC starting as early as age 5 years has been recommended.[49,50]

  • Second malignant neoplasm: RCCs have been described in patients several years after diagnosis and therapy for pediatric malignancies such as neuroblastoma, rhabdomyosarcoma, and leiomyosarcoma.[51-55]

Indications for germline genetic testing of children and adolescents with RCC to screen for a related syndrome are described in Table 1.

Table 1. Indications for Germline Genetic Analysis (Screening) of Children and Adolescents with Renal Cell Carcinoma (RCC)a
Indication for Testing Tumor Histology Gene Test Related Syndrome 
Multifocal RCC or VHL lesionsClear cellVHL genevon Hippel-Lindau syndrome
Family history of clear cell RCC or multifocal RCC with absent VHL mutationClear cellChromosome 3 gene translocationsHereditary non-VHL clear cell RCC syndrome
Multifocal papillary RCC or family history of papillary RCCPapillaryMET geneHereditary papillary RCC syndrome
Multifocal RCC or cutaneous fibrofolliculoma or pulmonary cysts or spontaneous pneumothoraxChromophobe or oncocytic or clear cellGermline sequence BHD geneBirt-Hogg-Dubé syndrome
Personal or family history of early-onset uterine leiomyomata or cutaneous leiomyomataType 2 papillary or collecting duct carcinomaFH geneHereditary leiomyomata/RCC syndrome
Multifocal RCC or early-onset RCC or presence of paraganglioma/pheochromocytoma or family history of paraganglioma/pheochromocytomaClear cell or chromophobeSDHB gene, SDHC gene, SDHD geneHereditary paraganglioma/pheochromocytoma syndrome

VHL = von Hippel-Lindau.
aAdapted from Linehan et al.[56]

Pediatric RCC differs histologically from the adult counterparts. Although the two main morphological subgroups of papillary and clear cell can be identified, about 25% of RCCs show heterogeneous features that do not fit into either one of these categories. Childhood RCCs are more frequently of the papillary subtype (20%–50% of pediatric RCCs) and can sometimes occur in the setting of Wilms tumor, metanephric adenoma, and metanephric adenofibroma.

Translocation-positive carcinomas of the kidney are recognized as a distinct form of RCC and may be the most common form of RCC in children. They are characterized by translocations involving the transcription factor E3 (TFE3) located on Xp11.2. The TFE3 gene may partner with one of the following genes:

  • ASPSCR in t(X;17)(p11.2;q25).
  • PRCC in t(X;1)(p11.2;q21).
  • SFPQ in t(X;1)(p11.2;p34).
  • NONO in inv(X;p11.2;q12).
  • Clathrin heavy chain (CLTC) in t(X;17)(p11;q23).

Another less common translocation subtype, t(6;11)(p21;q12), involving a fusion Alpha/TFEB, induces overexpression of transcription factor EB (TFEB). The translocations involving TFE3 and TFEB induce overexpression of these proteins, which can be identified by immunohistochemistry.[57] Prior exposure to chemotherapy is the only known risk factor for the development of Xp11 translocation RCCs. The postchemotherapy interval ranged from 4 to 13 years. All reported patients received either a DNA topoisomerase II inhibitor and/or an alkylating agent.[38,58] Controversy exists as to the biological behavior of the translocation RCC in children and young adults. Whereas some series have suggested a good prognosis when RCC is treated with surgery alone despite presenting at a higher stage (III/IV) than TFE-RCC, a meta-analysis reports that these patients have poorer outcomes.[59-61] Recurrences have been reported 20 to 30 years after the initial resection of the translocation-associated RCC.[54] VEGFR-targeted therapies and mTOR inhibitors seem to be active in Xp11 translocation metastatic RCC.[62]

RCC may present with an abdominal mass, abdominal pain, or hematuria. In a series of 41 children with RCC, the median age was 124 months with 46% presenting with localized stage I and stage II disease, 29% with stage III disease, and 22% with stage IV disease using the Robson classification system. The sites of metastases were the lungs, liver, and lymph nodes. EFS and OS were each about 55% at 20 years posttreatment. Patients with stage I and stage II disease had an 89% OS rate, while those with stage III and stage IV disease had a 23% OS rate at 20 years posttreatment.[63] An important difference between the outcomes in children and adults with RCC is the prognostic significance of local lymph node involvement. Adults presenting with RCC and involved lymph nodes have a 5-year OS of approximately 20%, but the literature suggests that 72% of children with RCC and local lymph node involvement at diagnosis (without distant metastases) survive their disease.[64] In another series of 49 patients from a population-based cancer registry, the findings were essentially confirmed. In this series, 33% of the patients had papillary subtype, 22% had translocation type, 16% were unclassified, and 6% had clear-cell subtype. Survival at 5 years was 96% for patients with localized disease, 75% for patients with positive regional lymph nodes, and 33% for patients with distant metastatic RCC.[65]


Some nephrogenic rests may become hyperplastic which may produce a thick rind of blastemal or tubular cells that enlarge the kidney. The diagnosis may be made radiographically, most readily by magnetic resonance imaging, in which the homogeneity of the hypointense rind-like lesion on contrast-enhanced imaging differentiates it from Wilms tumor. Biopsy often cannot discriminate Wilms tumor from these hyperplastic nephrogenic rests. Differentiation may occur following the administration of chemotherapy. Current recommendations are for treatment with vincristine and dactinomycin until nearly complete resolution as determined by imaging. Even with treatment (vincristine and dactinomycin), about half of children diagnosed with nephroblastomatosis will develop Wilms tumor within 36 months. In a series of 52 patients, three patients died of recurrent Wilms tumor.[66] In treated children, as many as one-third of Wilms tumors are anaplastic, probably as a result of selection of chemotherapy-resistant tumors, so early detection is critical. Patients are followed by imaging at a maximum interval of 3 months for a minimum of 7 years. Given the high incidence of bilaterality and the subsequent Wilms tumors, renal-sparing surgery is indicated.[66] These patients will be eligible for treatment on the COG-AREN0534 trial with vincristine and dactinomycin.

Neuroepithelial Tumors of the Kidney

Neuroepithelial tumors of the kidney (NETK) are extremely rare and demonstrate a unique proclivity for young adults. It is a highly aggressive neoplasm, more often presenting with penetration of the renal capsule, extension into the renal vein, and metastases.[67,68] Primary NETK consist of primitive neuroectodermal tumors characterized by CD99 (MIC-2) positivity and the detection of EWS/FLI-1 fusion transcripts. Within NETK, focal, atypical histologic features have been seen including clear cell sarcoma, RT, malignant peripheral nerve sheath tumors, and paraganglioma.[67,69] (Refer to the PDQ summary on Ewing Sarcoma Treatment for more information about neuroepithelial tumors.)

Desmoplastic Small Round Cell Tumor of the Kidney

Desmoplastic small round cell tumor of the kidney is a rare, small, round blue tumor of the kidney. It is diagnosed by its characteristic EWS-WT1 translocation.[70] (Refer to the PDQ summary on Childhood Soft Tissue Sarcoma Treatment for more information about desmoplastic small round cell tumor of the kidney.)

Cystic Partially Differentiated Nephroblastoma

Cystic partially differentiated nephroblastoma is a rare cystic variant of Wilms tumor (1%) with unique pathologic and clinical characteristics. It is composed entirely of cysts and their thin septa are the only solid portion of the tumor. The septa contain blastemal cells in any amount with or without embryonal stromal or epithelial cell type. Several pathologic features distinguish this neoplasm from standard Wilms tumor. Patients with stage I disease have a 100% survival rate with surgery alone. Patients with stage II disease have an excellent outcome with tumor resection followed by postoperative vincristine and dactinomycin.[10]

Multilocular Cystic Nephroma

Multilocular cystic nephromas are benign lesions consisting of cysts lined by renal epithelium. These lesions can occur bilaterally and a familial pattern has been reported. Multilocular cystic nephroma has been associated with pleuropulmonary blastomas, so radiographic imaging studies of the chest should be followed in patients with multilocular cystic nephroma.[71] Recurrence has been reported following tumor spillage at surgery.[72][Level of evidence: 3iiiA]

Primary Renal Synovial Sarcoma

Primary renal synovial sarcoma is a subset of embryonal sarcoma of the kidney and is characterized by the t(x;18)(p11;q11) SYT-SSX translocation. It is similar in histology to the monophasic spindle cell synovial sarcoma. Primary renal synovial sarcoma contains cystic structures derived from dilated, trapped renal tubules. Primary renal synovial sarcoma occurs more often in young adults and this type of renal tumor should be treated with different chemotherapy regimens than traditional Wilms tumor.[73]

Anaplastic Sarcoma of the Kidney

Anaplastic sarcoma of the kidney is a rare renal tumor that has been identified mainly in patients younger than 15 years. Patients present with a renal mass with the most common sites of metastases being the lung, liver, and bones. These tumors show pathologic features similar to pleuropulmonary blastoma of childhood (see the PDQ summary on Unusual Cancers of Childhood for more information) and undifferentiated embryonal sarcoma of the liver (see the PDQ summary on Childhood Liver Cancer for more information). Optimal therapy for this diagnosis is not clear. In the past, these tumors have been identified as anaplastic Wilms tumor and treated accordingly.[74]

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