Difference between revisions of "Chromophobe renal cell carcinoma"

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== Contributors ==
 
== Contributors ==
−
Daynna Wolff PhD FACMG
+
Daynna Wolff, PhD FACMG
 +
<br>
 
Yajuan Liu, PhD
 
Yajuan Liu, PhD
 +
<br>
 
Rajyasree Emmadi, MD
 
Rajyasree Emmadi, MD
 +
<br>
 
Banumathy Gowrishankar, PhD
 
Banumathy Gowrishankar, PhD
 +
<br>
 
Jane Houldsworth, PhD
 
Jane Houldsworth, PhD
  
Line 19: Line 23:
  
 
== Description ==
 
== Description ==
−
Chromophobe Renal Cell Carcinoma derives from the intercalated cells of the collecting duct epithelium and accounts for ~5% of renal tumors (Diaz JI, Mora LB, Hakam A. The Mainz Classification of Renal Cell Tumors. Cancer Control. 1999 Nov;6(6):571-579).
+
Chromophobe Renal Cell Carcinoma derives from the intercalated cells of the collecting duct epithelium and accounts for ~5% of renal tumors.<ref>Diaz JI, Mora LB, Hakam A. The Mainz Classification of Renal Cell Tumors. Cancer Control. 1999 Nov;6(6):571-579</ref>
  
 
== IHC Markers ==
 
== IHC Markers ==
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! Chromosome  !! Gain/Loss/Amp !! Region
 
! Chromosome  !! Gain/Loss/Amp !! Region
 
|-
 
|-
−
|1 || Loss || Chr1
+
|1 || Loss || Chr1 (90%)
 
|-
 
|-
−
|2 || Loss || Chr2
+
|2 || Loss || Chr2 (80%)
 
|-
 
|-
−
|6 || Loss || Chr6
+
|3 || Loss || Chr3 (25%)
 
|-
 
|-
−
|10 || Loss || Chr10
+
|5 || Loss || Chr5 (20%)
 
|-
 
|-
−
|13 || Loss || Chr13
+
|6 || Loss || Chr6 (90%)
 
|-
 
|-
−
|17 || Loss || Chr17
+
|8 || Loss || Chr8 (15%)
 
|-
 
|-
−
|21 || Loss || Chr21
+
|9 || Loss || Chr9 (25%)
 +
|-
 +
|10 || Loss || Chr10 (90%)
 +
|-
 +
|11 || Loss || Chr11 (10%)
 +
|-
 +
|13 || Loss || Chr13 (85%)
 +
|-
 +
|17 || Loss || Chr17 (90%)
 +
|-
 +
|18 || Loss || Chr18 (15%)
 +
|-
 +
|21 || Loss || Chr21 (70%)
 
|}
 
|}
 +
 +
[[File:TCGA-chromophobe RCC.jpeg|center|900px|TCGA Chromophobe RCC copy number profile]]
  
 
== Rearrangements ==
 
== Rearrangements ==
−
[[TERT]] (upstream) (5p15) (12%)
+
[[TERT]] (upstream) (5p15) (12%)<ref name=davis>Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, Biehl M, Seth S, Kaipparettu BA, Bristow CA, Donehower LA, Wallen EM, Smith AB, Tickoo SK, Tamboli P, Reuter V, Schmidt LS, Hsieh JJ, Choueiri TK, Hakimi AA; Cancer Genome Atlas Research Network, Chin L, Meyerson M, Kucherlapati R, Park WY, Robertson AG, Laird PW, Henske EP, Kwiatkowski DJ, Park PJ, Morgan M, Shuch B, Muzny D, Wheeler DA, Linehan WM, Gibbs RA, Rathmell WK, Creighton CJ. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 8;26(3):319-30.</ref>
  
 
== Mutations (SNV/INDEL) ==
 
== Mutations (SNV/INDEL) ==
  
−
=== From Cosmic Mutated in >20% ===
+
=== From Cosmic Mutated in >20%<ref>COSMIC (http://cancer.sanger.ac.uk/cosmic)</ref> ===
 
=== Mutated in 10-20% ===
 
=== Mutated in 10-20% ===
 
[[TP53]]
 
[[TP53]]
Line 66: Line 84:
  
 
== Epigenomics (methylation) ==
 
== Epigenomics (methylation) ==
−
Unknown
+
epigenetic silencing of CDKN2A
  
 
== Main Pathways Involved ==
 
== Main Pathways Involved ==
 +
MTOR pathway targeted (23% cases), increased expression of genes involved in oxidative phosphorylation
  
 
== Diagnosis ==
 
== Diagnosis ==
 +
Overall loss of whole chormosomes, in particular of chromosomes 1, 2, 6, 10, 13, 17, and 21, eosinophilic variant is mostly diploid<ref>Speicher MR, Schoell B, du Manoir S, Schröck E, Ried T, Cremer T, Störkel S, Kovacs A, Kovacs G. Specific loss of chromosomes 1, 2, 6, 10, 13, 17, and 21 in chromophobe renal cell carcinomas revealed by comparative genomic hybridization. Am J Pathol. 1994 Aug;145(2):356-64.</ref>
  
 
== Prognosis ==
 
== Prognosis ==
 +
Overall low risk of tumor progression, metastasis, and disease-specific death
  
 
== Therapeutics ==
 
== Therapeutics ==
Line 83: Line 104:
  
 
==References==
 
==References==
−
1. Speicher MR, Schoell B, du Manoir S, Schröck E, Ried T, Cremer T, Störkel S,
 
−
Kovacs A, Kovacs G.
 
−
Specific loss of chromosomes 1, 2, 6, 10, 13, 17, and 21 in
 
−
chromophobe renal cell carcinomas revealed by comparative genomic hybridization.
 
−
Am J Pathol. 1994 Aug;145(2):356-64.
 
−
 
−
2.  Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H,
 
−
Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, Biehl M,
 
−
Seth S, Kaipparettu BA, Bristow CA, Donehower LA, Wallen EM, Smith AB, Tickoo SK,
 
−
Tamboli P, Reuter V, Schmidt LS, Hsieh JJ, Choueiri TK, Hakimi AA; Cancer Genome
 
−
Atlas Research Network, Chin L, Meyerson M, Kucherlapati R, Park WY, Robertson
 
−
AG, Laird PW, Henske EP, Kwiatkowski DJ, Park PJ, Morgan M, Shuch B, Muzny D,
 
−
Wheeler DA, Linehan WM, Gibbs RA, Rathmell WK, Creighton CJ.
 
−
The somatic genomic
 
−
landscape of chromophobe renal cell carcinoma.
 
−
Cancer Cell. 2014 Sep 8;26(3):319-30.
 
−
 
−
3. Durinck S, Stawiski EW, Pavía-Jiménez A, Modrusan Z, Kapur P, Jaiswal BS,
 
−
Zhang N, Toffessi-Tcheuyap V, Nguyen TT, Pahuja KB, Chen YJ, Saleem S, Chaudhuri
 
−
S, Heldens S, Jackson M, Peña-Llopis S, Guillory J, Toy K, Ha C, Harris CJ,
 
−
Holloman E, Hill HM, Stinson J, Rivers CS, Janakiraman V, Wang W, Kinch LN,
 
−
Grishin NV, Haverty PM, Chow B, Gehring JS, Reeder J, Pau G, Wu TD, Margulis V,
 
−
Lotan Y, Sagalowsky A, Pedrosa I, de Sauvage FJ, Brugarolas J, Seshagiri S.
 
−
Spectrum of diverse genomic alterations define non-clear cell renal carcinoma
 
−
subtypes. Nat Genet. 2015 Jan;47(1):13-21.
 

Latest revision as of 11:29, 22 August 2016


Contributors

Daynna Wolff, PhD FACMG
Yajuan Liu, PhD
Rajyasree Emmadi, MD
Banumathy Gowrishankar, PhD
Jane Houldsworth, PhD

Tumor Type

Renal Cell Carcinoma

Tumor Classification

Chromophobe Renal Cell Carcinoma

Description

Chromophobe Renal Cell Carcinoma derives from the intercalated cells of the collecting duct epithelium and accounts for ~5% of renal tumors.[1]

IHC Markers

Positive: CD10 , CD117, E-cadherin, EMA, CK7, PAX8, PAX2, AMACR.

Negative: vimentin, RCC, CA-IX.

Genomic Gain/Loss/LOH

Chromosome Gain/Loss/Amp Region
1 Loss Chr1 (90%)
2 Loss Chr2 (80%)
3 Loss Chr3 (25%)
5 Loss Chr5 (20%)
6 Loss Chr6 (90%)
8 Loss Chr8 (15%)
9 Loss Chr9 (25%)
10 Loss Chr10 (90%)
11 Loss Chr11 (10%)
13 Loss Chr13 (85%)
17 Loss Chr17 (90%)
18 Loss Chr18 (15%)
21 Loss Chr21 (70%)
TCGA Chromophobe RCC copy number profile

Rearrangements

TERT (upstream) (5p15) (12%)[2]

Mutations (SNV/INDEL)

From Cosmic Mutated in >20%[3]

Mutated in 10-20%

TP53

Mutated in 5-10%

VHL, PTEN

Mutated in 2-5%

KMT2D, KMT2C, TERT, MET, ARID1A, FAAH2, PDHB, PDXDC1, ZNF765

mtDNA

Epigenomics (methylation)

epigenetic silencing of CDKN2A

Main Pathways Involved

MTOR pathway targeted (23% cases), increased expression of genes involved in oxidative phosphorylation

Diagnosis

Overall loss of whole chormosomes, in particular of chromosomes 1, 2, 6, 10, 13, 17, and 21, eosinophilic variant is mostly diploid[4]

Prognosis

Overall low risk of tumor progression, metastasis, and disease-specific death

Therapeutics

Familial Forms

Birt-Hogg-Dube syndrome (BHD): FLCN (17p11.2)

Links

References

  1. ↑ Diaz JI, Mora LB, Hakam A. The Mainz Classification of Renal Cell Tumors. Cancer Control. 1999 Nov;6(6):571-579
  2. ↑ Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, Biehl M, Seth S, Kaipparettu BA, Bristow CA, Donehower LA, Wallen EM, Smith AB, Tickoo SK, Tamboli P, Reuter V, Schmidt LS, Hsieh JJ, Choueiri TK, Hakimi AA; Cancer Genome Atlas Research Network, Chin L, Meyerson M, Kucherlapati R, Park WY, Robertson AG, Laird PW, Henske EP, Kwiatkowski DJ, Park PJ, Morgan M, Shuch B, Muzny D, Wheeler DA, Linehan WM, Gibbs RA, Rathmell WK, Creighton CJ. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 8;26(3):319-30.
  3. ↑ COSMIC (http://cancer.sanger.ac.uk/cosmic)
  4. ↑ Speicher MR, Schoell B, du Manoir S, Schröck E, Ried T, Cremer T, Störkel S, Kovacs A, Kovacs G. Specific loss of chromosomes 1, 2, 6, 10, 13, 17, and 21 in chromophobe renal cell carcinomas revealed by comparative genomic hybridization. Am J Pathol. 1994 Aug;145(2):356-64.
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