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Nephroblastoma

Wilms Tumor

Nephroblastoma, also known as Wilms tumor, is the most common renal malignancy in children. Patients will typically have an asymptomatic abdominal mass although some will have other features as well. The prognosis is excellent due to advances in therapy.


Presentation

Nephroblastoma, also referred to as Wilms tumor, is the fifth most common malignancy in childhood and the most frequent renal tumor in the pediatric population [1] [2]. Additionally, its peak incidence is in early childhood between the ages of 3 to 4 [3]. Patients with trisomies 13 and 18, Beckwith-Wiedemann syndrome, and Drash syndrome are at risk for developing this tumor [3]. Due to advances in treatment, the survival rate is 80% to 90%.

Regarding the presentation, the majority of patients will have an asymptomatic abdominal mass [4] [5] while some will also develop manifestations such as malaise, abdominal pain, hematuria, and hypertension [5]. The mass may be discovered incidentally or during a workup following trauma, hematuria, or hypertension [4]. In rare cases, the tumor ruptures and causes fever, pain, and anemia [5]. Furthermore, respiratory symptoms are present in those with metastasis to the lungs.

Nephroblastoma adheres to the "rules of 10s," which relates that 10% of these cases are bilateral, 10% develop vascular invasion, 10% exhibit lung metastasis at initial presentation, 10% have histology suggestive of poor outcome, and 10% demonstrate calcifications on imaging [6].

Complications

There are adverse effects associated with various types of treatment. For example, radiation therapy poses danger to the remaining kidney while chemotherapy agents are harmful to the liver and other organs. Also, removal of one kidney will lead t0 hypertrophy of the remaining kidney.

Physical exam

Remarkable findings include an abdominal mass, which should be palpated carefully to avoid rupture. Other notable features will be those of associated syndromes.

Splenomegaly
  • It is also important to investigate “B” symptoms associated with any lymphadenopathy or splenomegaly. Laboratory tests can often be helpful in ambiguous cases.[aafp.org]
Fever
  • Your child is being treated for this condition and symptoms get worse or new symptoms develop, mainly cough, chest pain, weight loss, or persistent fevers.[medlineplus.gov]
  • A six-month-old girl with persistent high fevers was found to have pyuria and bacteriuria. Ultrasonography revealed multilocular cysts in the right kidney. Right nephrectomy was performed with cyst wall rupture during surgery.[ncbi.nlm.nih.gov]
  • Symptoms include a lump in the abdomen, blood in the urine, and a fever for no reason. Tests that examine the kidney and blood are used to find the tumor. Doctors usually diagnose and remove the tumor in surgery.[medlineplus.gov]
  • In rare cases, the tumor ruptures and causes fever, pain, and anemia. Furthermore, respiratory symptoms are present in those with metastasis to the lungs.[symptoma.com]
Anemia
  • In rare cases, the tumor ruptures and causes fever, pain, and anemia. Furthermore, respiratory symptoms are present in those with metastasis to the lungs.[symptoma.com]
  • Tests include: Abdominal ultrasound Abdominal x-ray BUN Chest x-ray or CT scan Complete blood count (CBC), may show anemia Creatinine Creatinine clearance CT scan of the abdomen with contrast MRI Intravenous pyelogram MR angiography (MRA) Urinalysis Alkaline[mountsinai.org]
  • Patients sometimes experience abdominal pain (around 10% of cases), hypertension, fever (20% of cases), hematuria and anemia.[orpha.net]
  • Less common manifestation are hypertension, fever, hematuria, and anemia. Associated anomalies includes aniridia (absence of the iris), hemihypertrophy of the vertebrae, and genitourinary anomalies.[rnpedia.com]
Weight Loss
  • Later, symptoms may indicate fever, distortion of the kidney mass, evidence of secondary tumours elsewhere in the body, abdominal and flank pain, weight loss, nausea, loss of appetite, and vomiting.[britannica.com]
  • Your child is being treated for this condition and symptoms get worse or new symptoms develop, mainly cough, chest pain, weight loss, or persistent fevers.[medlineplus.gov]
  • As the tumor enlarges, pressure may cause constipation, vomiting, abdominal distress, anorexia, weight loss and dyspnea. Less common manifestation are hypertension, fever, hematuria, and anemia.[rnpedia.com]
Pallor
  • Non-specific symptoms are present in less than 1/3 children: subfebrility, weakness, pallor, loss of appetite constipation, abdominal pain 10–30 % patients develop micro or macroscopic hematuria (sometimes only transient) due to tumor penetration and[telemedicina.med.muni.cz]
  • Additional symptoms that should prompt concern include pallor, petechiae or ecchymoses, bone pain and significant weight loss.[aafp.org]
Flank Mass
  • Clinical Features• Median age 3years• M F• Looks less ill Abd/ flank mass—aymptomatic• Smooth, firm, rarely cross midline.• Discovered by chance.• 50% have abdominal pain, vomiting or both.• 60% have hypertension due to renal ischaemia.[slideshare.net]
Pertussis
  • A functional role for Gi was indicated because the ANP-induced suppression of basal renin secretion was blocked by pertussis toxin.[ncbi.nlm.nih.gov]
Abdominal Pain
  • We report a case of ERNB in a 4-year-old boy complaining of abdominal pain and vomiting. Imaging showed a retroperitoneal mass and left hydronephrosis. The mass was completely removed by surgery.[ncbi.nlm.nih.gov]
  • Regarding the presentation, the majority of patients will have an asymptomatic abdominal mass while some will also develop manifestations such as malaise, abdominal pain, hematuria, and hypertension.[symptoma.com]
  • Clinical History: This 8-year-old girl presented to the hospital with recurring abdominal pain on the left side and fever up to 39 C. In the urinalysis, protein, ketones and white blood cells were found, as well as hematuria.[clinical-mri.com]
  • Symptoms may include any of the following: Abdominal pain Abnormal urine color Constipation Fever General discomfort or uneasiness ( malaise ) High blood pressure Increased growth on only one side of the body Loss of appetite Nausea and vomiting Swelling[medlineplus.gov]
  • Some patients with nephroblastoma experience abdominal pain, nausea, vomiting, high blood pressure or blood in the urine.[carehospitals.com]
Abdominal Mass
  • Patients will typically have an asymptomatic abdominal mass although some will have other features as well. The prognosis is excellent due to advances in therapy.[symptoma.com]
  • Nephroblastoma must be included in the differential diagnosis of hypertension associated with increased renin concentrations, even in the absence of an abdominal mass.[ncbi.nlm.nih.gov]
  • In the current report, we describe the clinical characteristics of a 3-year-old girl with a complaint of a painless abdominal mass in the upper right side of the body.[ncbi.nlm.nih.gov]
  • It can present as an abdominal mass, but is usually metastatic at diagnosis so the symptomatology can be varied.[ncbi.nlm.nih.gov]
  • Neuroblastoma (NBL) is the most common extra-cranial tumour in childhood [ 1 ] and commonly presents as an abdominal mass.[ncbi.nlm.nih.gov]
Hypertension
  • Abstract A child with nephroblastoma, severe hypertension, polydipsia, and polyuria is presented. Previous reports of this association describe great difficulty in controlling the hypertension by medical means.[ncbi.nlm.nih.gov]
  • An infant with severe hypertension who had a nephroblastoma which was secreting active renin is described.[ncbi.nlm.nih.gov]
  • In addition to this paediatric renal tumour, the coexistence of juvenile arterial hypertension suggests an associated vascular defect. The link between the extracutaneous manifestations and cutaneous twin spot phenotype is discussed.[ncbi.nlm.nih.gov]
  • The mass may be discovered incidentally or during a workup following trauma, hematuria, or hypertension. In rare cases, the tumor ruptures and causes fever, pain, and anemia.[symptoma.com]
  • We report the successful preoperative control and anaesthetic management of severe hypertension in a 7-month-old baby with nephroblastoma and increased renin activity.[ncbi.nlm.nih.gov]
Hepatomegaly
  • VOD is primarily a clinical diagnosis characterized by hepatomegaly or pain in the right upper quadrant, jaundice, ascites, and unexplained weight gain.[emedicine.medscape.com]
  • Clinical Features• Opsoclonus-Myoclonus: " dancing eyes, dancing feet syndrome"—better prognosis 4%• Cervical involvement: - Horners syndromeThorax:- Respiratory distress• Abdomen: - Hard mass, fixed, abdominal Discomfort, Massive hepatomegaly 10.[slideshare.net]
Hepatic Mass
  • Ultrasonography has a high sensitivity for detecting hepatic masses ( 92 ).[doi.org]
Hepatosplenomegaly
  • Leukemia should be suspected if persistent vague symptoms are accompanied by evidence of abnormal bleeding, bone pain, lymphadenopathy or hepatosplenomegaly.[aafp.org]
Large Hand
  • Hand anomalies can include large hands and postaxial polydactyly. Physical features distinguishing SGBS from BWS are ocular hypertelorism, a large mouth, coarse facial features, supernumerary nipples, and persistent overgrowth throughout life.[doi.org]
Sparse Hair
  • We report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, palmar and plantar keratoderma, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral Wilms tumor. She was born with bilateral ankyloblepharon.[ncbi.nlm.nih.gov]
Aniridia
  • Patients with bilateral tumors, aniridia, cryptorchism/hypospadias, Beck-with-Wiedemann syndrome, or intralobar nephrogenic rests tend to be diagnosed much younger than average (median 17-27 months).[ncbi.nlm.nih.gov]
  • Postoperative renal function was unimpaired in 4 patients and 1 patient had Wilms tumor/aniridia/genitourinary malformations/retardation syndrome with glomerulopathy.[ncbi.nlm.nih.gov]
  • Sporadic aniridia mutations may affect the WT1 region adjacent to the AN2 aniridia region, causing a kidney cancer called nephroblastoma (Wilms tumor).[diki.pl]
  • In some children the tumour is associated with an abnormality of chromosome number 13; in these cases other features, such as absence of the iris in the eye ( see aniridia) and hemihypertrophy, are present.[oxfordreference.com]
Hematuria
  • The mass may be discovered incidentally or during a workup following trauma, hematuria, or hypertension. In rare cases, the tumor ruptures and causes fever, pain, and anemia.[symptoma.com]
  • Large tumor size and gross hematuria were associated with risk of a poorer outcome.[ncbi.nlm.nih.gov]
  • Urine specimens show hematuria; no increase in vanillylmandelic acid and homovanillic acid levels as occurs with neuroblastoma.[rnpedia.com]
  • In the urinalysis, protein, ketones and white blood cells were found, as well as hematuria. Ultrasound and a MR examination revealed a mass lesion in the left retroperitoneum with presumptive diagnosis of a nephroblastoma.[clinical-mri.com]
  • Constipation Fever General discomfort or uneasiness ( malaise ) High blood pressure Increased growth on only one side of the body Loss of appetite Nausea and vomiting Swelling in the abdomen ( abdominal hernia or mass ) Sweating (at night) Blood in urine (hematuria[medlineplus.gov]
Macroscopic Hematuria
  • , movement of the mass during respiration, looking for signs of overgrowth, peripheral lymph nodes, edemas, hypertension, passing stool/urine, macroscopic hematuria.[telemedicina.med.muni.cz]

Workup

Any child with an abdominal mass warrants a full workup consisting of a patient and family history, complete physical exam, and the appropriate studies.

Laboratory tests

The clinician must obtain a complete blood count (CBC), complete metabolic panel (CMP) including renal function tests, and a coagulation panel. Urinalysis is also important.

Cytogenetic testing

Chromosomal analysis for associated syndromes is indicated.

Imaging

Ultrasonography of the kidneys is the initial diagnostic modality since it is widely available, inexpensive, and safe. Renal ultrasonography determines the location and characteristic of the mass as it differentiates solid from cystic lesions [5]. This study also detects thrombi in the inferior vena cava (IVC).

Abdominal computed tomography (CT) scan provides critical details regarding the tumor's origin, vascular and lymph nodal invasion, bilateral renal involvement, and metastatic disease [7]. Moreover, CT with contrast enhancement demonstrates a greater sensitivity for vascular involvement [8].

Experts advocate that contrast-enhanced magnetic resonance imaging (MRI) is the preferred diagnostic study [3]. This modality exhibits the most sensitivity for ascertaining caval patency and invasion. Generally, a nephroblastoma has low signal intensity on a T1 weighted image and high intensity on T2 [9].

Chest radiography and CT scan are performed to investigate lung metastasis.

Histology

The diagnosis is confirmed by histologic analysis of the tumor, which is characterized by epithelial, stromal, and blastemal embryonic elements [4]. Very importantly, histology also determines the prognosis [10].

Treatment

  • […] leading to precise diagnoses and the selection of the optimal treatment.[ncbi.nlm.nih.gov]
  • Recurrent Wilms tumor The prognosis and treatment for children with Wilms tumor that recurs (comes back after treatment) depends on their prior treatment, the cancer’s histology (favorable or anaplastic), and where it recurs.[cancer.org]
  • Preoperative treatment duration ranged from 1-12 weeks (n 103). 1-3 preoperative treatment-cycles resulted in average tumor-volume-reduction of 45%. 1 patient underwent bilateral nephrectomy. 52% of the patients had 2 functioning kidneys after the end[ncbi.nlm.nih.gov]
  • CONCLUSION: Most challenges are related to unaffordable treatment and late presentation.[ncbi.nlm.nih.gov]
  • The authors have reviewed the available experiences concerning the treatment of recurrent WT, and have attempted to provide the most up-to-date recommendations regarding the optimal risk-based treatment for these patients.[ncbi.nlm.nih.gov]

Prognosis

  • CONCLUSIONS: The absence of RGS4 and P16 in pediatric nephroblastoma tissue is correlated with poor prognosis of patients. RGS4 and P16 are of significance for the prognosis of pediatric nephroblastoma.[ncbi.nlm.nih.gov]
  • Patients with initial stage I and II showed a significantly better prognosis than children with stage III (57 vs. 31%, p 0.008).[ncbi.nlm.nih.gov]
  • In a multivariate analysis, PDGF-α protein expression by epithelial cells was an independent prognostic marker of a favourable prognosis.[ncbi.nlm.nih.gov]
  • Your child’s treatment and prognosis (outlook) depend, to a large extent, on the cancer’s stage.[cancer.org]
  • Prognostic factors The 2 most important factors that predict the prognosis of a child with a Wilms tumor are: The histology of the tumor. This is what the tumor cells look like under a microscope.[cancer.net]

Etiology

  • It is unlikely that such environmental exposures play a major role in the etiology of Wilms tumor. The median age-at-onset of Wilms tumor is 38 months in the U.S.[ncbi.nlm.nih.gov]
  • A nephroblastoma, like clear cell renal carcinoma, can be considered a possible etiology of pancreatic metastasis from a primary renal tumor.[ncbi.nlm.nih.gov]
  • The etiology of Wilms tumor, an embryonic kidney tumor, is genetically heterogeneous.[ncbi.nlm.nih.gov]
  • Most early reports suggest that hepatic irradiation is the major etiologic factor in hepatic injury.[emedicine.medscape.com]

Epidemiology

  • The epidemiologic features suggest that somatic mosaicism, rather than a germline mutation, may be responsible for some of the bilateral and multicentric cases.[ncbi.nlm.nih.gov]
  • The National Wilms Tumor Study (NWTS) constitutes a unique resource for study of clinical, pathologic, and epidemiologic features of Wilms tumor (WT).[ncbi.nlm.nih.gov]
  • We aimed to find out 1p and 16q LOH frequencies in patients with FH-WT as well as its correlation to survival outcome and epidemiologic and clinical characteristics.[ncbi.nlm.nih.gov]
  • Medical University, Guangzhou 510623, Guangdong, China; Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China. 2 Molecular Epidemiology[ncbi.nlm.nih.gov]
  • Hung, Wilms' tumour: a systematic review of risk factors and meta‐analysis, Paediatric and Perinatal Epidemiology, 24, 5, (449-469), (2010).[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology and clinical aspects of both tumours including associated risk factors and pathologies are discussed.[ncbi.nlm.nih.gov]
  • […] including FNA) and removal of tumor in 1 piece Stage IV (10%) : Hematogenous metastases or spread beyond abdomen Stage V (5%) : Bilateral renal involvement (substage each tumor separately according to above criteria) Reference: American Cancer Society Pathophysiology[pathologyoutlines.com]
  • Adipose tissue, or more specifically visceral fat, which is located around the internal organs, plays a central role in the pathophysiology of metabolic syndrome.[journals.plos.org]

Prevention

  • Simultaneous thoraco-abdominal surgery with total circulatory arrest is advocated to remove the cardiac and caval tumor together with the primary tumor in order to prevent sudden hemodynamic and embolic complications.[ncbi.nlm.nih.gov]
  • Chemotherapy failed to prevent recurrence but only mature elements were present following this treatment. The intensity of therapy required to treat CPDN remains undefined.[ncbi.nlm.nih.gov]
  • The small number of cases prevented any firm conclusions. By summing up, our results support the idea that there are probably two types of blastema in nephroblastoma with different "suicide" potential and chemotherapeutic response.[ncbi.nlm.nih.gov]
  • Chemotherapy given before the surgery is also effective in preventing complications. Outlook (Prognosis) Children whose tumor has not spread have a 90% cure rate with appropriate treatment.[mountsinai.org]
  • Although almost half the cases have spread by the time diagnosis is made, this does not prevent a cure: the number of children that survive at least five years after diagnosis is improving, being currently around 75%.[oxfordreference.com]

References

Article

  1. Breslow N, Olshan A, Beckwith JB, et al. Epidemiology of Wilms tumor. Med Pediatr Oncol. 1993;21(3):172–81.
  2. Pastore G, Znaor A, Spreafico F, et al. Malignant renal tumours incidence and survival in European children (1978–1997): report from the Automated Childhood Cancer Information System project. Eur J Cancer. 2006;42(13):2103–2114.
  3. Dumba M, Jawad N, McHugh K. Neuroblastoma and nephroblastoma: a radiological review. Cancer Imaging. 2015;15(1):5.
  4. Lonergan GJ, Martinez-Leon MI, Agrons GA, Montemarano H, Suarez ES. Nephrogenic rests, nephroblastomatosis, and associated lesions of the kidney. Radiographics. 1998;18(4):947–68.
  5. Davidoff AM. Wilms tumor. Adv Pediatr. 2012;59(1):247–67.
  6. Dahnert W. Urogenital tract. In: Radiology Review Manual. 7th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2011: 895-1012.
  7. Refaie HD, Sarhan M, Hafez A. Role of CT in assessment of unresectable Wilms' tumor response after preoperative chemotherapy in pediatrics. ScientificWorldJournal. 2008; 8:661-69.
  8. Khanna G, Rosen N, Anderson JR, et al. Evaluation of diagnostic performance of CT for detection of tumour thrombus in children with Wilms tumour: a report from the Children’s Oncology Group. Pediatr Blood Cancer. 2012;58(4):551–55.
  9. Lowe HL, Isuani BH, Heller RM, Stein SM, Johnson JE, Navarro OM, et al. Pediatric Renal Masses: Wilms Tumor and Beyond. Radiographics. 2000;20(6):1585–1603.
  10. Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumor results from the first National Wilms’ Tumor Study. Cancer. 1978;41(5):1937–48.

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Last updated: 2019-06-28 12:24