2025 – PAGE 277 – HEMATOLOGY & ONCOLOGY

OTHER MALIGNANCIES, TUMORS, & SYNDROMES

WILMS TUMOR

A Wilms tumor is also known as a NEPHROblastoma (kidney tumor). It’s the most common abdominal malignancy in kids! Look for an otherwise asymptomatic unilateral flank mass in a child less than 10 years old (66% of cases are diagnosed prior to 6 years of age). A Wilms tumor can be associated with hemihypertrophy, aniridia (no iris), and possible hypertension or gross hematuria. The most classic association is with WAGR syndrome, which includes Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability (formerly known as mential retardation).

PEARL: All children with HEMIHYPERTROPHY are at increased risk for having Wilms tumor and hepatoblastomas.

(DOUBLE TAKE) PEARL: Hemihypertrophy images on the pediatric exam should very quickly clue you in to a few disorders. Highest on your differential should be Beckwith-Wiedemann Syndrome, then Klippel-Trenaunay, then Russell-Silver Syndrome, and then possibly Proteus Syndrome.

(DOUBLE TAKE) RETINOBLASTOMA

The primary finding for retinoblastoma is LEUKOCORIA. There is increased risk of osteogenic sarcoma (AKA osteosarcoma) of a long bone in the future. The inheritance pattern is actually a little confusing, with there being a strong genetic component but also a high rate of spontaneous mutations.

PEARLS: Avoid completely discounting this disorder just because there is no family history. Retinoblastoma is a prime example of a disorder that often occurs due to spontaneous mutations. If you are given information about chromosome 13 and an eye problem, or if you are given the X-ray of a long bone (such as a femur, tibia, humerus, radius, or ulna), consider this diagnosis.

IMAGE: www.pbrlinks.com/RETINOBLASTOMA1

MNEMONIC: “BLAST” from the introductory mnemonic.

MNEMONIC: RAT-inoblastoma. Imagine having a birthday cake made in the shape of your dad wearing a tuxedo. You go into the kitchen to get it, and you find two WHITE RATs gnawing at the cake. One is nibbling on the right EYE (retinoblastoma), and the other is nibbling at the TIBIA (a long bone). Just as you get close, the tibia breaks and the entire thing collapses!

REMINDER: Leukocoria with loss of the red light reflex is seen in retinoblastoma as well as cataracts.

NEUROBLASTOMA

Neuroblastoma is the most common EXTRACRANIAL solid tumor of childhood. It most commonly presents in the abdomen of a young child (< 5 yo). Neuroblastoma occurs in males more than in females. Unique features include a possible PURPLE HUE TO EYELIDS and possible echymoses in the periorbital area. This results from lymphoid tissue involvement, not child abuse! The patient may also have opsoclonus-myoclonus (AKA “Dancing Eyes” and myoclonic jerking). Other findings may include abdominal pain, an elevated ferritin, or an elevated LDH. Prognosis is based on age: good if the patient is less than one year old, bad if the patient is more than one year old. Urine VMA can be elevated.

IMAGE: (VIDEO) www.pbrlinks.com/NEUROBLASTOMA1