Case 928 -- Genomic Analysis of a Renal Mass in a Toddler

Contributed by Eduardo Castro-Echeverry, MD, Octavia Palmer, PhD and Urvashi Surti, PhD


A toddler girl with type I diabetes mellitus presents with intermittent abdominal pain, lasting for approximately one week, localizing to the left upper and lower quadrant and the left flank. The pain was worse at night and associated with anorexia and nausea, relieved by vomiting with non-bloody, non-bilious emesis. Bowel function was otherwise normal. Family history, social history and birth / developmental history are non-contributory. Physical exam demonstrated a tender, palpable mass in the left side of the abdomen. Abdominal ultrasound and CT of the abdomen and pelvis shows an enhancing, heterogenous, solid vascular mass of approximately 6 cm in greatest dimension arising from the lower pole of the left kidney with a perinephric hemorrhage and hematoma contained within Gerota's fascia.

The patient underwent a radical left nephroureterectomy with resection of the left renal mass and sampling of abdominal lymph nodes. There were no postoperative complications and she was discharged 2 days later.


A 6-7 cm x 6 cm x 6 cm soft friable tan-pink to white mass arising out of the inferior pole of the left kidney with extensive hemorrhage confined to Gerota's fascia.


Histologic sections demonstrate a tumor composed of sheets of pleomorphic cells with eosinophilic cytoplasm (a), vesicular nuclei and prominent nucleoli extending through the renal capsule. Numerous mitotic figures are identified. By immunoperoxidase stains, the tumor cells are negative for myogenin, desmin, CD20, TdT, pankeratin, LCA and INI-1 (b); positive for vimentin, and weakly positive for CD99 and WT-1.


An abnormality in Chromosome 22 is identified. A normal chromosome 21 is provided for comparison.


Normal female karyotype (46, XX)


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