[989] Clear Cell Papillary Renal Cell Carcinoma in Von Hippel-Lindau Disease

Priya Rao, Federico A Monzon, Eric Jonasch, Bogdan A Czerniak, Pheroze Tamboli. MD Anderson Cancer Center, Houston, TX; Baylor College of Medicine, Houston, TX

Background: Clear cell papillary RCC is a renal neoplasm that has recently received widespread recognition in the literature. There have been several reports of this tumor arising in a sporadic setting and in patients with end-stage renal disease. However there is limited information available about the clinical, pathologic characteristics and genetic characteristic of this tumor in the setting of Von Hippel-Lindau (VHL) disease.
Design: We identified 29 patients from our VHL clinics database, who underwent resection at our institution. All patients had a clinical diagnosis of VHL. Histologic slides from 16 nephrectomy specimens were available for review.
Results: Three of sixteen patients had tumors that met the histologic criteria for clear cell papillary RCC. Two of the three patients presented with multiple bilateral cystic tumors. The third patient had a single renal tumor, in addition to an adrenal pheochromocytoma. All of the tumors in two patients were of the clear cell papillary type. One patient (#3) had multiple tumors, which included clear cell papillary and clear cell subtypes. The histology of in all cases was similar to that which has been previously reported for clear cell papillary RCC. Of note, all tumors were diffusely and strongly positive for CK7 and negative for racemase. All tumors showed at least focal staining for CD10, which is reportedly less common in tumors arising in the sporadic setting. The results are summarized in Table 1.

Summary of clinicopathologic data

	Age/Gender	Other clinical stigmata of VHL	Tumor configuration/Laterality	Number of tumors	Tumor size (cm)	Fuhrman grade	Pathologic stage
1	22/F	Pheochromocytoma, hemangioblastomas	Cystic/bilateral	1	3.5	2	pT1
2	39/F	Hemangioblastoma	Cystic/bilateral	Multiple	0.6-5.3	2	pT1 (all tumors)
3	38/F	Hemangioblastoma	Cystic/bilateral	Multiple	0.4-6.5	2	pT1 (all tumors)

Comparative genomic analysis (using SNP arrays) of these clear cell papillary RCC's and clear cell RCC's is currently underway.
Conclusions: Von Hippel-Lindau disease has traditionally been known to be associated with multiple bilateral clear cell renal cell carcinomas, which are often extensively cystic in nature. This is the first reported series of cases documenting the presence of clear cell papillary RCC in patients with Von Hippel-Lindau disease. Genomic analysis will help us to better understand the biology of this unique tumor and compare it to typical clear RCC in this inherited disorder.
Category: Genitourinary (including renal tumors)

Wednesday, March 21, 2012 9:30 AM

Poster Session V # 96, Wednesday Morning