Wilm’s tumor

Introduction: also known as nephroblastoma ❏ arises from abnormal proliferation of metanephric blastoma ❏ 5% of all childhood cancers, 5% bilateral ❏ average age of incidence is 3 years ❏ 1/3 hereditary (autosomal dominant) and 2/3 sporadic • familial form associated with other congenital abnormalities and gene defects (WAGR syndrome)

Spread Direct invasion: major type of spread of this tumor Lymphatic spread: very rare Blood spread: not frequent

Clinical staging Stage I: tumor is restricted to the kidney Stage II: tumor extends beyond kidney but within perinephric tissue & it is resectable Stage III: tumor spreads beyond perinephric tissue & is not completely resectable Stage IV: with hematogenous spread Stage V: bilateral tumor

Presentation • abdominal mass : large, firm, unilateral(most common presentation – 80%), smooth, typically doesn’t cross the midline • hypertension (60%) • abdominal pain • microscopic hematuria • pyrexia • nausea/vomiting

Investigations Blood: polycythemia X- ray KUB Excretory urograms USG CT scan: nephroblastoma replaces renal parenchyma on CT scans whereas Neuroblastoma displaces it.

Treatment • always investigate contralateral kidney • treatment of choice is simple nephrectomy +/– radiation +/– chemotherapy

Prognosis • generally good; overall 5-year survival about 80% • metastatic disease may respond well

Neuroblastoma

Introduction A 2 year old boy complains of belly pain and lack of appetite. Physical reveals a large abdominal mass. Most common malignant solid tumor in children. Derived from neural crest tissue May arise anywhere along sympathetic ganglia. Most common in adrenal medulla (50%)

Neuroblastoma Age 1-2 years Extends across midline Ocular involvement may present as raccoon eyes. Calcifications on chest x-ray whereas no calcifications in nephroblastoma Elevated catecholamines, metanephrines. Due to production of hormones, children may present with flushing, HTN, watery diarrhea, periorbital ecchymosis.

Neuroblastoma Age at presentation is major prognostic factor. Less than 1 year >70% survival Older than 1 year <35% survival Good prognostic features: Tumors with <10 copies of N- myc gene Aneuploid tumors Low mitosis index Normal LDH and catecholamine levels.

Neuroblastoma If able, surgical excision is treatment of choice, chemo may be beneficial. The N- myc gene is associated with neuroblastoma!

Mass Noted by Mother A two year old is brought by her mother who noted a mass protruding from under the left costal margin. On physical, you find a well nourished, normotensive child. There is no macroglossia, aniridia, skin abnormalities or bruising. You inquire about blood in urine, hx of bruising. A. What is your initial differential? B. What are your immediate diagnostic plans?

What is the most likely diagnosis in the differential? X Neuroblastoma most common, often painful, racoon eyes, blueberry muffin skin, often weight loss Wilm’s Tumor painless, aniridia, macroglossia, hypertension, hematuria X Hepatoblastoma X Lymphoma X Germ Cell/Ovarian Mass

What are your diagnostic plans? CBC, UA, LDH, urine VMA metabolites, ßHcG, FP Sonogram regional venous anatomy/tumor thrombus CT Metastatic work-up as indicated (bone marrows, other cavity scans)

Pearls Accessory signs are helpful when present but most tumors present without Neuroblastoma demonstrates calcifications on plain film, Wilm’s does not Work up should be thorough but logical--head to toe scanning is not the approach Diagnosis should await tissue confirmation Try to minimize palpation

Pearls Neuroblastoma: Wilms’ Tumor: irritable child, tender skin: blueberry muffin eyes: raccoon eyes some degree of wasting urinary metabolites calcs on film Wilms’ Tumor: asymptomatic macroglossia aniridia Hemihypertrophy hypertension hematuria

Pearls Biopsy and access followed by neoadjuvant therapy Complete Resection Surgical staging v. pathologic staging TEAM approach: radiology, pathology, oncology, surgery, pediatrician