Diagnosis

Wilms Tumor

Etiology

Cause [och]

• Unknown

• Sporadic genetic alterations during the embryological development of the genitourinary tract (genetic markers: WT1, CTNNB1, WTX, TP53 and MYNC)

Cancer-Predisposition Syndromes (genetic): [mbu]

• WAGR syndrome: Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation

• Beckwith-Weidemann syndrome: hemihypertrophy, macroglossia, organomegaly

• Denys-Drash syndrome: Wilms tumor, pseudohermaphroditism, glomerulopathy

• Other: Perlman syndrome (DIS3L2), Li-Fraumeni syndrome (TP53), Simpson-Golabi-Behmel syndrome (GPC3, GPC4), GLOW syndrome, Bohring-Opitz syndrome (ASXL1), Mulibrey nanism (TRIM37), DNA repair defects

Other kidney cancers in children

• Mesoblastic nephroma

• Clear cell sarcoma of kidney

• Malignant rhabdoid tumor of the kidney

• Renal cell carcinoma

Pathophysiology [wr6]

1. Originates from precursor neural crest cells in the sympathetic nervous system

2. The maturation of embryonal kidney cells is disrupted and these unmature cells somehow begin to grow out of control resulting in Wilms tumor

Complications [och]

• Renal failure

• Von Willebrand's disease

• Metastasis

• Radiation --> Secondary malignancy (bone, breast, colon, thyroid) and osteoporosis

• Chemotherapy --> Risk of secondary malignancy, specific toxicity (hearing loss, cardiac failure, peripheral neuropathy)

Epidemiology

Incidence per 100.000 [wbf][tku][nfy][isv][rvm][kzu][muu]

Approach

• Blood test: Complete blood count, renal function, coagulation studies, cytogenetics studies

• Urine stix

• Renal ultrasonography

• Abdominal CT

• Abdominal MRI

• CT thorax (lung metastases)

Treatment

1. Nephrectomy followed by systemic chemotherapy [och]

   • Lymph nodes around the aorta are sampled for staging and to improve survival

   • Chemotherapy: vincristine, dactinomycin, doxorubicin, cyclophosphamide, etoposide, and carboplatin

2. Alternative strategy: chemotherapy first and nephrectomy later

3. Nephron sparing surgery can be performed in select cases

Differential diagnoses

Clear cell sarcoma, Hydronephrosis, Mesoblastic nephroma, Neuroblastoma, Polycystic kidney disease, Renal cell carcinoma, Renal cyst, Renal dysplasia, Renal hemorrhage, Renal thrombosis, Rhabdomyosarcoma