Clear cell papillary renal cell carcinoma-like tumors in patients with von hippel-lindau disease are unrelated to sporadic clear cell papillary renal cell carcinoma

Sean R. Williamson, Shaobo Zhang, John Eble, David Grignon, Guido Martignoni, Matteo Brunelli, Mingsheng Wang, Stefano Gobbo, Lee Ann Baldridge, Liang Cheng

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39 Citations (Scopus)

Abstract

Clear cell papillary renal cell carcinoma (CCPRCC) shares morphologic overlap with clear cell renal cell carcinoma, although it lacks chromosome 3p and VHL gene abnormalities. Rare cases have been reported in von Hippel-Lindau (VHL) patients (germline mutation of the VHL gene), the significance of which is uncertain. We analyzed morphologic, immunohistochemical, and molecular features in 14 CCPRCC-like tumors and 13 clear cell renal cell carcinomas from 12 patients with VHL disease. Gross appearance of CCPRCC-like tumors ranged from yellow-orange to tan, red-brown, or extensively cystic. Histologic features included: small papillary tufts (79%), branched tubules (71%), branched papillae (64%), flattened peripheral cysts (64%), and apically aligned nuclei (43%). Almost all CCPRCC-like tumors (82%) lacked the characteristic immunoprofile of sporadic CCPRCC (CK7, CAIX, CD10, AMACR), often showing diffuse CD10 labeling (64%), negative or focal CK7 reactivity (55%), or both (18%). Three tumors (27%) showed strong AMACR staining. Chromosome 3p deletion was often present (82%), similar to that observed in clear cell renal cell carcinomas (80%); no CCPRCC-like tumor had chromosome 7 or 17 abnormalities. In summary, tumors that histologically resemble CCPRCC sometimes occur in patients with VHL disease but usually lack the characteristic immunohistochemical and molecular profile, suggesting that they do not share the same pathogenesis.

Original languageEnglish
Pages (from-to)1131-1139
Number of pages9
JournalAmerican Journal of Surgical Pathology
Volume37
Issue number8
DOIs
StatePublished - Aug 2013

Fingerprint

von Hippel-Lindau Disease
Renal Cell Carcinoma
Neoplasms
Naphazoline
Chromosome Deletion
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 7
Germ-Line Mutation

Keywords

  • clear cell papillary renal cell carcinoma
  • clear cell renal cell carcinoma
  • immunohistochemistry
  • kidney neoplasia
  • molecular genetics
  • von Hippel-Lindau

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery

Cite this

Clear cell papillary renal cell carcinoma-like tumors in patients with von hippel-lindau disease are unrelated to sporadic clear cell papillary renal cell carcinoma. / Williamson, Sean R.; Zhang, Shaobo; Eble, John; Grignon, David; Martignoni, Guido; Brunelli, Matteo; Wang, Mingsheng; Gobbo, Stefano; Baldridge, Lee Ann; Cheng, Liang.

In: American Journal of Surgical Pathology, Vol. 37, No. 8, 08.2013, p. 1131-1139.

Research output: Contribution to journalArticle

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abstract = "Clear cell papillary renal cell carcinoma (CCPRCC) shares morphologic overlap with clear cell renal cell carcinoma, although it lacks chromosome 3p and VHL gene abnormalities. Rare cases have been reported in von Hippel-Lindau (VHL) patients (germline mutation of the VHL gene), the significance of which is uncertain. We analyzed morphologic, immunohistochemical, and molecular features in 14 CCPRCC-like tumors and 13 clear cell renal cell carcinomas from 12 patients with VHL disease. Gross appearance of CCPRCC-like tumors ranged from yellow-orange to tan, red-brown, or extensively cystic. Histologic features included: small papillary tufts (79{\%}), branched tubules (71{\%}), branched papillae (64{\%}), flattened peripheral cysts (64{\%}), and apically aligned nuclei (43{\%}). Almost all CCPRCC-like tumors (82{\%}) lacked the characteristic immunoprofile of sporadic CCPRCC (CK7, CAIX, CD10, AMACR), often showing diffuse CD10 labeling (64{\%}), negative or focal CK7 reactivity (55{\%}), or both (18{\%}). Three tumors (27{\%}) showed strong AMACR staining. Chromosome 3p deletion was often present (82{\%}), similar to that observed in clear cell renal cell carcinomas (80{\%}); no CCPRCC-like tumor had chromosome 7 or 17 abnormalities. In summary, tumors that histologically resemble CCPRCC sometimes occur in patients with VHL disease but usually lack the characteristic immunohistochemical and molecular profile, suggesting that they do not share the same pathogenesis.",
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AU - Grignon, David

AU - Martignoni, Guido

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