Difference between revisions of "Renal Cell Neoplasia Tables: Recurrent Cytogenomic Alterations"
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|'''chr3''' | |'''chr3''' | ||
| − | |'''-3/3p-''' (''VHL, KDM6A,'' | + | |'''-3/3p-''' (''[[VHL]], [[KDM6A]],'' |
| − | ''KDM5C, SETD2, PBRM1'') | + | ''[[KDM5C]], [[SETD2]], [[PBRM1]]'') |
(90%) '''[1; D]''' | (90%) '''[1; D]''' | ||
| Line 91: | Line 91: | ||
| | | | ||
|<nowiki>-6 (17%) [3; R]</nowiki> | |<nowiki>-6 (17%) [3; R]</nowiki> | ||
| − | | colspan="2" |'''6p21 (''TFEB'') amp [2; D, P]''' | + | | colspan="2" |'''6p21 (''[[TFEB]]'') amp [2; D, P]''' |
|'''-6''' (90%) '''[1; D]<sup>c</sup>''' | |'''-6''' (90%) '''[1; D]<sup>c</sup>''' | ||
| | | | ||
| Line 106: | Line 106: | ||
|8p- (25%) [2; R] | |8p- (25%) [2; R] | ||
| | | | ||
| − | |<nowiki>+8 (</nowiki>''MYC'') (10-33%) [3; R] | + | |<nowiki>+8 (</nowiki>''[[MYC]]'') (10-33%) [3; R] |
| colspan="2" | | | colspan="2" | | ||
|<nowiki>-8 (15%) [3; R]</nowiki><sup>c</sup> | |<nowiki>-8 (15%) [3; R]</nowiki><sup>c</sup> | ||
| Line 156: | Line 156: | ||
|- | |- | ||
|'''chr14''' | |'''chr14''' | ||
| − | |'''14q-''' (''HIF1A'') (40%) '''[1; P]''' | + | |'''14q-''' (''[[HIF1A]]'') (40%) '''[1; P]''' |
| | | | ||
|<nowiki>-14 (28%) [2; R]</nowiki> | |<nowiki>-14 (28%) [2; R]</nowiki> | ||
| Line 254: | Line 254: | ||
|- | |- | ||
| | | | ||
| − | |''TERT'' promoter (5p15) (<10%) [3; R] | + | |''[[TERT]]'' promoter (5p15) (<10%) [3; R] |
| | | | ||
| | | | ||
| − | | colspan="2" |'''''TFE3'' (Xp11)'', TFEB'' (6p21)''' (100%) '''[1; D, P]''' | + | | colspan="2" |'''''[[TFE3]]'' (Xp11)'', [[TFEB]]'' (6p21)''' (100%) '''[1; D, P]''' |
| − | |''TERT'' promoter (5p15) (12%) [3; R] | + | |''[[TERT]]'' promoter (5p15) (12%) [3; R] |
| − | |''CCND1'' (11q13) (40%) [2; D] | + | |''[[CCND1]]'' (11q13) (40%) [2; D] |
|- | |- | ||
| colspan="8" |'''Mutations (SNVs, Indels) [level of evidence; clinical significance]''' | | colspan="8" |'''Mutations (SNVs, Indels) [level of evidence; clinical significance]''' | ||
| Line 266: | Line 266: | ||
in >20% | in >20% | ||
| − | |''PBRM1'' [2; R]'', '''VHL''''' '''(also promoter methylation) [1; D]''' | + | |''[[PBRM1]]'' [2; R]'', '''[[VHL]]''''' '''(also promoter methylation) [1; D]''' |
| | | | ||
| | | | ||
| colspan="2" | | | colspan="2" | | ||
| − | |''TP53'' [2; R] | + | |''[[TP53]]'' [2; R] |
| | | | ||
|- | |- | ||
| Line 276: | Line 276: | ||
in 10-20% | in 10-20% | ||
| − | |''BAP1'' [1; P]'', SETD2'' [2; R] | + | |''[[BAP1]]'' [1; P]'', [[SETD2]]'' [2; R] |
| − | |'''''MET'' [1; D]''' | + | |'''''[[MET]]'' [1; D]''' |
| | | | ||
| colspan="2" | | | colspan="2" | | ||
| Line 286: | Line 286: | ||
in 5-10% | in 5-10% | ||
| − | |''KDM5C, MTOR'', ''PTEN,'' ''TP53'' [2; R] | + | |''[[KDM5C]], [[MTOR]]'', ''[[PTEN]],'' ''[[TP53]]'' [2; R] |
| | | | ||
| − | |'''''CDKN2A'' (also promoter hypermethylation) [2; P]'',''''' '''''MET''''' '''[1; D]''' | + | |'''''[[CDKN2A]]'' (also promoter hypermethylation) [2; P]'',''''' '''''[[MET]]''''' '''[1; D]''' |
| colspan="2" | | | colspan="2" | | ||
| − | |''PTEN'' [2; R] | + | |''[[PTEN]]'' [2; R] |
| | | | ||
|- | |- | ||
| Line 296: | Line 296: | ||
in 2-5% | in 2-5% | ||
| − | |''ARID1A, CDKN2A, KDMT2C/ | + | |''[[ARID1A]], [[CDKN2A]], [[KDMT2C]]/[[KDMT2D]], [[LRP1B]], [[PIK3CA]], [[PTEN]], [[STAG2]], [[TCEB1]], [[TERT]]'' |
| − | |''CDKN2A/ | + | |''[[CDKN2A]]/[[CDKN2B]], [[KDM6A]], [[MLL3]], [[NF2]], [[NFE2L2]], [[SMARCB1]], [[TERT]]'' |
| − | |''BAP1, FAT1, KDM6A, NF2, NFE2L2, PBRM1, SETD2, STAG2, TERT, TP53'' | + | |''[[BAP1]], [[FAT1]], [[KDM6A]], [[NF2]], [[NFE2L2]], [[PBRM1]], [[SETD2]], [[STAG2]], [[TERT]], [[TP53]]'' |
| colspan="2" | | | colspan="2" | | ||
| − | |''ARID1A, FAAH2, FAT1/ | + | |''[[ARID1A]], [[FAAH2]], [[FAT1]]/[[FAT4]], [[FLT4]], [[MICALCL]], [[NIN]], [[PDHB]], [[PDXDC1]], [[TSC1]]/[[TSC2]], [[ZNF765]]'' |
| − | |''ERCC2, C2CD4C'' | + | |''[[ERCC2]], [[C2CD4C]]'' |
|- | |- | ||
|Mitochondrial DNA | |Mitochondrial DNA | ||
| Line 308: | Line 308: | ||
| | | | ||
| colspan="2" | | | colspan="2" | | ||
| − | |''MT-ND5'' [3,D] | + | |''[[MT-ND5]]'' [3,D] |
| − | |''MT-COX1, MT-COX2, MT-COX3, MT-ND5, MT-CYTB'' [2,D] | + | |''[[MT-COX1]], [[MT-COX2]], [[MT-COX3]], [[MT-ND5]], [[MT-CYTB]]'' [2,D] |
|- | |- | ||
| colspan="8" |'''Germline susceptibility''' | | colspan="8" |'''Germline susceptibility''' | ||
|- | |- | ||
|Germline susceptibility | |Germline susceptibility | ||
| − | |§ mainly ''VHL'' (von Hippel-Lindau Syndrome) | + | |§ mainly ''[[VHL]]'' (von Hippel-Lindau Syndrome) |
| − | § ''PTEN'' (Cowden Syndrome) | + | § ''[[PTEN]]'' (Cowden Syndrome) |
| − | § ''FLCN'' (Birt-Hogg-Dube syndrome) | + | § ''[[FLCN]]'' (Birt-Hogg-Dube syndrome) |
| − | § ''TSC1'' and ''TSC2'' (tuberous sclerosis) | + | § ''[[TSC1]]'' and ''[[TSC2]]'' (tuberous sclerosis) |
| − | § ''SDHB (most common), SDHC (less common), SDHA (rare), SDHD (rare)'' (succinate dehydrogenase deficient RCC) | + | § ''[[SDHB]] (most common), [[SDHC]] (less common), [[SDHA]] (rare), [[SDHD]] (rare)'' (succinate dehydrogenase deficient RCC) |
| − | |§ ''MET'' (Hereditary papillary RCC) | + | |§ ''[[MET]]'' (Hereditary papillary RCC) |
| − | |§ ''FH'' (Hereditary leiomyomatosis and RCC) | + | |§ ''[[FH]]'' (Hereditary leiomyomatosis and RCC) |
| | | | ||
| − | | colspan="2" |''FCLN'' (Birt-Hogg-Dube syndrome) | + | | colspan="2" |''[[FCLN]]'' (Birt-Hogg-Dube syndrome) |
| − | |''FCLN'' (Birt-Hogg-Dube syndrome) | + | |''[[FCLN]]'' (Birt-Hogg-Dube syndrome) |
|- | |- | ||
|'''References''' | |'''References''' | ||
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| − | | colspan="2" |[10, 42, 67-71, 73, 74, 98, 169-174] | + | | colspan="2" |[10, 42<ref>{{Cite journal|last=Antonelli|first=Alessandro|last2=Tardanico|first2=Regina|last3=Balzarini|first3=Piera|last4=Arrighi|first4=Nicola|last5=Perucchini|first5=Laura|last6=Zanotelli|first6=Tiziano|last7=Cozzoli|first7=Alberto|last8=Zani|first8=Danilo|last9=Cunico|first9=Sergio Cosciani|date=2010-06|title=Cytogenetic features, clinical significance and prognostic impact of type 1 and type 2 papillary renal cell carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/20471516|journal=Cancer Genetics and Cytogenetics|volume=199|issue=2|pages=128–133|doi=10.1016/j.cancergencyto.2010.02.013|issn=1873-4456|pmid=20471516}}</ref>, 67-71<ref>{{Cite journal|last=Jiang|first=F.|last2=Richter|first2=J.|last3=Schraml|first3=P.|last4=Bubendorf|first4=L.|last5=Gasser|first5=T.|last6=Sauter|first6=G.|last7=Mihatsch|first7=M. J.|last8=Moch|first8=H.|date=1998-11|title=Chromosomal imbalances in papillary renal cell carcinoma: genetic differences between histological subtypes|url=https://pubmed.ncbi.nlm.nih.gov/9811338|journal=The American Journal of Pathology|volume=153|issue=5|pages=1467–1473|doi=10.1016/S0002-9440(10)65734-3|issn=0002-9440|pmc=1853413|pmid=9811338}}</ref><ref>{{Cite journal|last=Klatte|first=Tobias|last2=Pantuck|first2=Allan J.|last3=Said|first3=Jonathan W.|last4=Seligson|first4=David B.|last5=Rao|first5=Nagesh P.|last6=LaRochelle|first6=Jeffrey C.|last7=Shuch|first7=Brian|last8=Zisman|first8=Amnon|last9=Kabbinavar|first9=Fairooz F.|date=2009-02-15|title=Cytogenetic and molecular tumor profiling for type 1 and type 2 papillary renal cell carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/19228721|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=15|issue=4|pages=1162–1169|doi=10.1158/1078-0432.CCR-08-1229|issn=1078-0432|pmid=19228721}}</ref><ref>{{Cite journal|last=Sanders|first=Melinda E.|last2=Mick|first2=Rosemarie|last3=Tomaszewski|first3=John E.|last4=Barr|first4=Frederic G.|date=2002-09|title=Unique patterns of allelic imbalance distinguish type 1 from type 2 sporadic papillary renal cell carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/12213728|journal=The American Journal of Pathology|volume=161|issue=3|pages=997–1005|doi=10.1016/S0002-9440(10)64260-5|issn=0002-9440|pmc=1867241|pmid=12213728}}</ref><ref>{{Cite journal|last=Yu|first=Wenjuan|last2=Zhang|first2=Wei|last3=Jiang|first3=Yanxia|last4=Wang|first4=Yuewei|last5=Li|first5=Yujun|last6=Wang|first6=Jigang|last7=Sun|first7=Lingling|last8=Ran|first8=Wenwen|last9=Li|first9=Hong|date=2013-06|title=Clinicopathological, genetic, ultrastructural characterizations and prognostic factors of papillary renal cell carcinoma: new diagnostic and prognostic information|url=https://pubmed.ncbi.nlm.nih.gov/23219441|journal=Acta Histochemica|volume=115|issue=5|pages=452–459|doi=10.1016/j.acthis.2012.10.009|issn=1618-0372|pmid=23219441}}</ref><ref>{{Cite journal|last=Schraml|first=P.|last2=Müller|first2=D.|last3=Bednar|first3=R.|last4=Gasser|first4=T.|last5=Sauter|first5=G.|last6=Mihatsch|first6=M. J.|last7=Moch|first7=H.|date=2000-03|title=Allelic loss at the D9S171 locus on chromosome 9p13 is associated with progression of papillary renal cell carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/10699995|journal=The Journal of Pathology|volume=190|issue=4|pages=457–461|doi=10.1002/(SICI)1096-9896(200003)190:43.0.CO;2-C|issn=0022-3417|pmid=10699995}}</ref>, 73<ref>{{Cite journal|last=Hughson|first=M. D.|last2=Dickman|first2=K.|last3=Bigler|first3=S. A.|last4=Meloni|first4=A. M.|last5=Sandberg|first5=A. A.|date=1998-10-15|title=Clear-cell and papillary carcinoma of the kidney: an analysis of chromosome 3, 7, and 17 abnormalities by microsatellite amplification, cytogenetics, and fluorescence in situ hybridization|url=https://pubmed.ncbi.nlm.nih.gov/9797772|journal=Cancer Genetics and Cytogenetics|volume=106|issue=2|pages=93–104|doi=10.1016/s0165-4608(98)00068-5|issn=0165-4608|pmid=9797772}}</ref>, 74<ref>{{Cite journal|last=Velickovic|first=M.|last2=Delahunt|first2=B.|last3=Störkel|first3=S.|last4=Grebem|first4=S. K.|date=2001-06-15|title=VHL and FHIT locus loss of heterozygosity is common in all renal cancer morphotypes but differs in pattern and prognostic significance|url=https://pubmed.ncbi.nlm.nih.gov/11406557|journal=Cancer Research|volume=61|issue=12|pages=4815–4819|issn=0008-5472|pmid=11406557}}</ref>, 98<ref>{{Cite journal|last=Przybycin|first=Christopher G.|last2=Magi-Galluzzi|first2=Cristina|last3=McKenney|first3=Jesse K.|date=2013-07|title=Hereditary syndromes with associated renal neoplasia: a practical guide to histologic recognition in renal tumor resection specimens|url=https://pubmed.ncbi.nlm.nih.gov/23752087|journal=Advances in Anatomic Pathology|volume=20|issue=4|pages=245–263|doi=10.1097/PAP.0b013e318299b7c6|issn=1533-4031|pmid=23752087}}</ref>, 169-174] |
|[10, 121, 122, 124, 125, 175] | |[10, 121, 122, 124, 125, 175] | ||
| − | | colspan="2" |[11, 12, 103, 105, 106, 108, 109, 129, 137, 176, 177] | + | | colspan="2" |[11<ref>{{Cite journal|last=Davis|first=Caleb F.|last2=Ricketts|first2=Christopher J.|last3=Wang|first3=Min|last4=Yang|first4=Lixing|last5=Cherniack|first5=Andrew D.|last6=Shen|first6=Hui|last7=Buhay|first7=Christian|last8=Kang|first8=Hyojin|last9=Kim|first9=Sang Cheol|date=2014-09-08|title=The somatic genomic landscape of chromophobe renal cell carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/25155756|journal=Cancer Cell|volume=26|issue=3|pages=319–330|doi=10.1016/j.ccr.2014.07.014|issn=1878-3686|pmc=4160352|pmid=25155756}}</ref>, 12<ref name=":0">{{Cite journal|last=Chen|first=Fengju|last2=Zhang|first2=Yiqun|last3=Şenbabaoğlu|first3=Yasin|last4=Ciriello|first4=Giovanni|last5=Yang|first5=Lixing|last6=Reznik|first6=Ed|last7=Shuch|first7=Brian|last8=Micevic|first8=Goran|last9=De Velasco|first9=Guillermo|date=2016-03-15|title=Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/26947078|journal=Cell Reports|volume=14|issue=10|pages=2476–2489|doi=10.1016/j.celrep.2016.02.024|issn=2211-1247|pmc=4794376|pmid=26947078}}</ref>, 103<ref name=":1">{{Cite journal|last=Krill-Burger|first=John M.|last2=Lyons|first2=Maureen A.|last3=Kelly|first3=Lori A.|last4=Sciulli|first4=Christin M.|last5=Petrosko|first5=Patricia|last6=Chandran|first6=Uma R.|last7=Kubal|first7=Michael D.|last8=Bastacky|first8=Sheldon I.|last9=Parwani|first9=Anil V.|date=2012-06|title=Renal cell neoplasms contain shared tumor type-specific copy number variations|url=https://pubmed.ncbi.nlm.nih.gov/22483639|journal=The American Journal of Pathology|volume=180|issue=6|pages=2427–2439|doi=10.1016/j.ajpath.2012.01.044|issn=1525-2191|pmc=3378847|pmid=22483639}}</ref>, 105<ref name=":2">{{Cite journal|last=Yusenko|first=Maria V.|last2=Kuiper|first2=Roland P.|last3=Boethe|first3=Tamas|last4=Ljungberg|first4=Börje|last5=van Kessel|first5=Ad Geurts|last6=Kovacs|first6=Gyula|date=2009-05-18|title=High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas|url=https://pubmed.ncbi.nlm.nih.gov/19445733|journal=BMC cancer|volume=9|pages=152|doi=10.1186/1471-2407-9-152|issn=1471-2407|pmc=2686725|pmid=19445733}}</ref>, 106<ref>{{Cite journal|last=Kang|first=Xue-Ling|last2=Zou|first2=Hong|last3=Pang|first3=Li Juan|last4=Hu|first4=Wen Hao|last5=Zhao|first5=Jin|last6=Qi|first6=Yan|last7=Liu|first7=Chun-Xia|last8=Hu|first8=Jian Ming|last9=Tang|first9=Jing-Xia|date=2015|title=Chromosomal imbalances revealed in primary renal cell carcinomas by comparative genomic hybridization|url=https://pubmed.ncbi.nlm.nih.gov/26097545|journal=International Journal of Clinical and Experimental Pathology|volume=8|issue=4|pages=3636–3647|issn=1936-2625|pmc=4466932|pmid=26097545}}</ref>, 108<ref>{{Cite journal|last=Sperga|first=Maris|last2=Martinek|first2=Petr|last3=Vanecek|first3=Tomas|last4=Grossmann|first4=Petr|last5=Bauleth|first5=Kevin|last6=Perez-Montiel|first6=Delia|last7=Alvarado-Cabrero|first7=Isabel|last8=Nevidovska|first8=Kristine|last9=Lietuvietis|first9=Vilnis|date=2013-10|title=Chromophobe renal cell carcinoma--chromosomal aberration variability and its relation to Paner grading system: an array CGH and FISH analysis of 37 cases|url=https://pubmed.ncbi.nlm.nih.gov/23913167|journal=Virchows Archiv: An International Journal of Pathology|volume=463|issue=4|pages=563–573|doi=10.1007/s00428-013-1457-6|issn=1432-2307|pmid=23913167}}</ref>, 109<ref>{{Cite journal|last=Casuscelli|first=Jozefina|last2=Weinhold|first2=Nils|last3=Gundem|first3=Gunes|last4=Wang|first4=Lu|last5=Zabor|first5=Emily C.|last6=Drill|first6=Esther|last7=Wang|first7=Patricia I.|last8=Nanjangud|first8=Gouri J.|last9=Redzematovic|first9=Almedina|date=2017-06-15|title=Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/28614790|journal=JCI insight|volume=2|issue=12|doi=10.1172/jci.insight.92688|issn=2379-3708|pmc=5470887|pmid=28614790}}</ref>, 129, 137, 176, 177] |
| − | |[12, 76, 102, 103, 105, 129, 132, 135-137, 140, 178-180] | + | |[12<ref name=":0" />, 76, 102<ref>{{Cite journal|last=Gowrishankar|first=Banumathy|last2=Przybycin|first2=Christopher G.|last3=Ma|first3=Charles|last4=Nandula|first4=Subhadra V.|last5=Rini|first5=Brian|last6=Campbell|first6=Steven|last7=Klein|first7=Eric|last8=Chaganti|first8=R. S. K.|last9=Magi-Galluzzi|first9=Cristina|date=2015-05|title=A genomic algorithm for the molecular classification of common renal cortical neoplasms: development and validation|url=https://pubmed.ncbi.nlm.nih.gov/25498568|journal=The Journal of Urology|volume=193|issue=5|pages=1479–1485|doi=10.1016/j.juro.2014.11.099|issn=1527-3792|pmid=25498568}}</ref>, 103<ref name=":1" />, 105<ref name=":2" />, 129, 132, 135-137, 140, 178-180] |
|} | |} | ||
Note: <sup>a</sup> level of evidence (ranges from level 1 to 3 as specified in the methods). Level 1, established clinical significance and present in current WHO classification and/or professional practice guidelines such as NCCN, ASCO, CAP guidelines or FDA approval; Level 2, recurrent clinical significance based on large studies with outcomes; and Level 3, recurrent but uncertain clinical significance based on smaller studies and multiple case reports. | Note: <sup>a</sup> level of evidence (ranges from level 1 to 3 as specified in the methods). Level 1, established clinical significance and present in current WHO classification and/or professional practice guidelines such as NCCN, ASCO, CAP guidelines or FDA approval; Level 2, recurrent clinical significance based on large studies with outcomes; and Level 3, recurrent but uncertain clinical significance based on smaller studies and multiple case reports. | ||
Revision as of 23:26, 14 January 2021
Table 1 - Recurrent Genomic Alterations in AML Detected by Chromosomal Microarray (Literature Review). This is a comprehensive list of CNAs and CN-LOH detectable by CMA testing with strong clinical significance in major types of renal cell neoplasia. Table derived from Liu et al., 2020 [PMID: 32434132] with permission from Cancer Genetics.
| WHO Classification | |||||||
| Subtype | Clear Cell RCC | Papillary RCC
Type 1 |
Papillary RCC
Type 2 (heterogeneous group) |
MiTF-Translocation RCC | Chromophobe RCC | Oncocytoma | |
| Percentage | 70-75% | 15-20% | 15-20% | 1-5% | 5% | 5% | |
| Origin | Proximal Tubules | Collecting Ducts | |||||
| Copy Number Alterations [level of evidencea; clinical significanceb] | |||||||
| Whole genome | Mostly gains | Mostly losses | No CNAs (~50%) [1; R] | ||||
| chr1 | 1p- (10%) [2; R] | 1p- (25%) [2; R] | 1p- (30%) [3; R] | -1 (90%) [1; D]c | -1/1p- soly (50%) [1; R] | ||
| chr2 | +2 (18%) [2; R] | -2 (80%) [1; D]c | |||||
| chr3 | -3/3p- (VHL, KDM6A,
(90%) [1; D] |
+3 (40%) [2; R] | 3p-/cnLOH(3p) (21%) [2; R], 3p+ (12%) [3; R], 3q+ (21%) [3; R] | -3 (25%) [3; R] | |||
| chr4 | 4p- (10%) [2; R] | -4 (21%) [3; R] | +4 (10%) [3; R] | ||||
| chr5 | 5p+ (24%) [2; R],
5q+ (SQSTM1) (40-60%) [2; R] |
5q+/+5 (20%) [2; R] | -5 (25%) [3; R] | ||||
| chr6 | 6q- (20%) [2; R] | -6 (17%) [3; R] | 6p21 (TFEB) amp [2; D, P] | -6 (90%) [1; D]c | |||
| chr7 | +7 (25%) [2; R] | +7/+7,+7 (84%) [1; D]c | +7 (25%) [1; D] | +7 (30%) [3; R] | |||
| chr8 | 8p- (25%) [2; R] | +8 (MYC) (10-33%) [3; R] | -8 (15%) [3; R]c | ||||
| chr9 | 9p- (20%) [1; P]
9q- (20%) [2; R] |
9p- (19%) [2; R],
9q- (17%) [3; R] |
9p- (30%) [3; R] | -9 (35%) [3; R] | |||
| chr10 | 10q- (10%) [2; R] | 10q- (17%) [3; R] | -10 (90%) [1; D]c | ||||
| chr11 | 11q- (19%) [3; R] | -11 (10%) [3; R] | |||||
| chr12 | +12 (15%) [2; R] | +12 (52%) [2; R] | +12 (15%) [3; R] | +12 (35%) [3; R] | |||
| chr13 | +13 (13%) [2; R] | -13 (20%) [3; R] | -13 (85%) [1; D]c | ||||
| chr14 | 14q- (HIF1A) (40%) [1; P] | -14 (28%) [2; R] | -14 (10%) [2; R] | ||||
| chr15 | -15 (15%) [3; R] | -15 (15%) [3; R] | |||||
| chr16 | 16p+ (12%) [2; R],
16q+ (10%) [2; R] |
+16 (55%) [2; R] | 16p+ (40%) [2; R],
16q+ (35%) [2; R] |
||||
| chr17 | +17 (84%) [1; D] c | 17p- (8%) [3; R],
+17/17q+ (50%) [1; D] |
17p- (20%) [3; R],
17q+ (40%) [3; R] |
-17 (90%) [1; D]c | |||
| chr18 | -18 (10%) [2; R] | -18 (26%) [2; R] | -18 (15%) [3; R] | ||||
| chr19 | |||||||
| chr20 | +20 (13%) [2; R] | +20 (40%) [2; R] | |||||
| chr21 | -21 (19%) [3; R] | -21 (70%) [1; D]c | -21 (15%) [3; R] | ||||
| chr22 | -22 (40%) [2; R] | ||||||
| X | -X (10%) [3;R] | ||||||
| Y | -Y (40%) [1; R with -1]c | ||||||
| Rearrangements [level of evidence; clinical significance] | |||||||
| TERT promoter (5p15) (<10%) [3; R] | TFE3 (Xp11), TFEB (6p21) (100%) [1; D, P] | TERT promoter (5p15) (12%) [3; R] | CCND1 (11q13) (40%) [2; D] | ||||
| Mutations (SNVs, Indels) [level of evidence; clinical significance] | |||||||
| Mutated
in >20% |
PBRM1 [2; R], VHL (also promoter methylation) [1; D] | TP53 [2; R] | |||||
| Mutated
in 10-20% |
BAP1 [1; P], SETD2 [2; R] | MET [1; D] | |||||
| Mutated
in 5-10% |
KDM5C, MTOR, PTEN, TP53 [2; R] | CDKN2A (also promoter hypermethylation) [2; P], MET [1; D] | PTEN [2; R] | ||||
| Mutated
in 2-5% |
ARID1A, CDKN2A, KDMT2C/KDMT2D, LRP1B, PIK3CA, PTEN, STAG2, TCEB1, TERT | CDKN2A/CDKN2B, KDM6A, MLL3, NF2, NFE2L2, SMARCB1, TERT | BAP1, FAT1, KDM6A, NF2, NFE2L2, PBRM1, SETD2, STAG2, TERT, TP53 | ARID1A, FAAH2, FAT1/FAT4, FLT4, MICALCL, NIN, PDHB, PDXDC1, TSC1/TSC2, ZNF765 | ERCC2, C2CD4C | ||
| Mitochondrial DNA | MT-ND5 [3,D] | MT-COX1, MT-COX2, MT-COX3, MT-ND5, MT-CYTB [2,D] | |||||
| Germline susceptibility | |||||||
| Germline susceptibility | § mainly VHL (von Hippel-Lindau Syndrome)
§ PTEN (Cowden Syndrome) § FLCN (Birt-Hogg-Dube syndrome) § TSC1 and TSC2 (tuberous sclerosis) § SDHB (most common), SDHC (less common), SDHA (rare), SDHD (rare) (succinate dehydrogenase deficient RCC) |
§ MET (Hereditary papillary RCC) | § FH (Hereditary leiomyomatosis and RCC) | FCLN (Birt-Hogg-Dube syndrome) | FCLN (Birt-Hogg-Dube syndrome) | ||
| References | [9[1], 14[2], 17[3], 24[4], 27[5], 29[6], 32[7], 35[8], 49[9], 156-168] | [10, 42[10], 67-71[11][12][13][14][15], 73[16], 74[17], 98[18], 169-174] | [10, 121, 122, 124, 125, 175] | [11[19], 12[20], 103[21], 105[22], 106[23], 108[24], 109[25], 129, 137, 176, 177] | [12[20], 76, 102[26], 103[21], 105[22], 129, 132, 135-137, 140, 178-180] | ||
Note: a level of evidence (ranges from level 1 to 3 as specified in the methods). Level 1, established clinical significance and present in current WHO classification and/or professional practice guidelines such as NCCN, ASCO, CAP guidelines or FDA approval; Level 2, recurrent clinical significance based on large studies with outcomes; and Level 3, recurrent but uncertain clinical significance based on smaller studies and multiple case reports.
b clinical significance, D-diagnosis, P-prognosis, R-recurrence
c alterations in combination
- ↑ Cancer Genome Atlas Research Network (2013-07-04). "Comprehensive molecular characterization of clear cell renal cell carcinoma". Nature. 499 (7456): 43–49. doi:10.1038/nature12222. ISSN 1476-4687. PMC 3771322. PMID 23792563.
- ↑ Klatte, Tobias; et al. (2009-02-10). "Cytogenetic profile predicts prognosis of patients with clear cell renal cell carcinoma". Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology. 27 (5): 746–753. doi:10.1200/JCO.2007.15.8345. ISSN 1527-7755. PMID 19124809.
- ↑ Mitchell, Thomas J.; et al. (04 19, 2018). "Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal". Cell. 173 (3): 611–623.e17. doi:10.1016/j.cell.2018.02.020. ISSN 1097-4172. PMC 5927631. PMID 29656891. Check date values in:
|date=(help) - ↑ Chen, Meng; et al. (2009-11-15). "Genome-wide profiling of chromosomal alterations in renal cell carcinoma using high-density single nucleotide polymorphism arrays". International Journal of Cancer. 125 (10): 2342–2348. doi:10.1002/ijc.24642. ISSN 1097-0215. PMC 2768265. PMID 19521957.
- ↑ Gerlinger, Marco; et al. (2012-03-08). "Intratumor heterogeneity and branched evolution revealed by multiregion sequencing". The New England Journal of Medicine. 366 (10): 883–892. doi:10.1056/NEJMoa1113205. ISSN 1533-4406. PMC 4878653. PMID 22397650.
- ↑ Sato, Yusuke; et al. (2013-08). "Integrated molecular analysis of clear-cell renal cell carcinoma". Nature Genetics. 45 (8): 860–867. doi:10.1038/ng.2699. ISSN 1546-1718. PMID 23797736. Check date values in:
|date=(help) - ↑ Beroukhim, Rameen; et al. (2009-06-01). "Patterns of gene expression and copy-number alterations in von-hippel lindau disease-associated and sporadic clear cell carcinoma of the kidney". Cancer Research. 69 (11): 4674–4681. doi:10.1158/0008-5472.CAN-09-0146. ISSN 1538-7445. PMC 2745239. PMID 19470766.
- ↑ Arai, Eri; et al. (2008-09-01). "Genetic clustering of clear cell renal cell carcinoma based on array-comparative genomic hybridization: its association with DNA methylation alteration and patient outcome". Clinical Cancer Research: An Official Journal of the American Association for Cancer Research. 14 (17): 5531–5539. doi:10.1158/1078-0432.CCR-08-0443. ISSN 1078-0432. PMID 18765545.
- ↑ Kroeger, Nils; et al. (2013-04-15). "Deletions of chromosomes 3p and 14q molecularly subclassify clear cell renal cell carcinoma". Cancer. 119 (8): 1547–1554. doi:10.1002/cncr.27947. ISSN 1097-0142. PMID 23335244.
- ↑ Antonelli, Alessandro; et al. (2010-06). "Cytogenetic features, clinical significance and prognostic impact of type 1 and type 2 papillary renal cell carcinoma". Cancer Genetics and Cytogenetics. 199 (2): 128–133. doi:10.1016/j.cancergencyto.2010.02.013. ISSN 1873-4456. PMID 20471516. Check date values in:
|date=(help) - ↑ Jiang, F.; et al. (1998-11). "Chromosomal imbalances in papillary renal cell carcinoma: genetic differences between histological subtypes". The American Journal of Pathology. 153 (5): 1467–1473. doi:10.1016/S0002-9440(10)65734-3. ISSN 0002-9440. PMC 1853413. PMID 9811338. Check date values in:
|date=(help) - ↑ Klatte, Tobias; et al. (2009-02-15). "Cytogenetic and molecular tumor profiling for type 1 and type 2 papillary renal cell carcinoma". Clinical Cancer Research: An Official Journal of the American Association for Cancer Research. 15 (4): 1162–1169. doi:10.1158/1078-0432.CCR-08-1229. ISSN 1078-0432. PMID 19228721.
- ↑ Sanders, Melinda E.; et al. (2002-09). "Unique patterns of allelic imbalance distinguish type 1 from type 2 sporadic papillary renal cell carcinoma". The American Journal of Pathology. 161 (3): 997–1005. doi:10.1016/S0002-9440(10)64260-5. ISSN 0002-9440. PMC 1867241. PMID 12213728. Check date values in:
|date=(help) - ↑ Yu, Wenjuan; et al. (2013-06). "Clinicopathological, genetic, ultrastructural characterizations and prognostic factors of papillary renal cell carcinoma: new diagnostic and prognostic information". Acta Histochemica. 115 (5): 452–459. doi:10.1016/j.acthis.2012.10.009. ISSN 1618-0372. PMID 23219441. Check date values in:
|date=(help) - ↑ Schraml, P.; et al. (2000-03). "Allelic loss at the D9S171 locus on chromosome 9p13 is associated with progression of papillary renal cell carcinoma". The Journal of Pathology. 190 (4): 457–461. doi:10.1002/(SICI)1096-9896(200003)190:43.0.CO;2-C. ISSN 0022-3417. PMID 10699995. Check date values in:
|date=(help) - ↑ Hughson, M. D.; et al. (1998-10-15). "Clear-cell and papillary carcinoma of the kidney: an analysis of chromosome 3, 7, and 17 abnormalities by microsatellite amplification, cytogenetics, and fluorescence in situ hybridization". Cancer Genetics and Cytogenetics. 106 (2): 93–104. doi:10.1016/s0165-4608(98)00068-5. ISSN 0165-4608. PMID 9797772.
- ↑ Velickovic, M.; et al. (2001-06-15). "VHL and FHIT locus loss of heterozygosity is common in all renal cancer morphotypes but differs in pattern and prognostic significance". Cancer Research. 61 (12): 4815–4819. ISSN 0008-5472. PMID 11406557.
- ↑ Przybycin, Christopher G.; et al. (2013-07). "Hereditary syndromes with associated renal neoplasia: a practical guide to histologic recognition in renal tumor resection specimens". Advances in Anatomic Pathology. 20 (4): 245–263. doi:10.1097/PAP.0b013e318299b7c6. ISSN 1533-4031. PMID 23752087. Check date values in:
|date=(help) - ↑ Davis, Caleb F.; et al. (2014-09-08). "The somatic genomic landscape of chromophobe renal cell carcinoma". Cancer Cell. 26 (3): 319–330. doi:10.1016/j.ccr.2014.07.014. ISSN 1878-3686. PMC 4160352. PMID 25155756.
- ↑ 20.0 20.1 Chen, Fengju; et al. (2016-03-15). "Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma". Cell Reports. 14 (10): 2476–2489. doi:10.1016/j.celrep.2016.02.024. ISSN 2211-1247. PMC 4794376. PMID 26947078.
- ↑ 21.0 21.1 Krill-Burger, John M.; et al. (2012-06). "Renal cell neoplasms contain shared tumor type-specific copy number variations". The American Journal of Pathology. 180 (6): 2427–2439. doi:10.1016/j.ajpath.2012.01.044. ISSN 1525-2191. PMC 3378847. PMID 22483639. Check date values in:
|date=(help) - ↑ 22.0 22.1 Yusenko, Maria V.; et al. (2009-05-18). "High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas". BMC cancer. 9: 152. doi:10.1186/1471-2407-9-152. ISSN 1471-2407. PMC 2686725. PMID 19445733.
- ↑ Kang, Xue-Ling; et al. (2015). "Chromosomal imbalances revealed in primary renal cell carcinomas by comparative genomic hybridization". International Journal of Clinical and Experimental Pathology. 8 (4): 3636–3647. ISSN 1936-2625. PMC 4466932. PMID 26097545.
- ↑ Sperga, Maris; et al. (2013-10). "Chromophobe renal cell carcinoma--chromosomal aberration variability and its relation to Paner grading system: an array CGH and FISH analysis of 37 cases". Virchows Archiv: An International Journal of Pathology. 463 (4): 563–573. doi:10.1007/s00428-013-1457-6. ISSN 1432-2307. PMID 23913167. Check date values in:
|date=(help) - ↑ Casuscelli, Jozefina; et al. (2017-06-15). "Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma". JCI insight. 2 (12). doi:10.1172/jci.insight.92688. ISSN 2379-3708. PMC 5470887. PMID 28614790.
- ↑ Gowrishankar, Banumathy; et al. (2015-05). "A genomic algorithm for the molecular classification of common renal cortical neoplasms: development and validation". The Journal of Urology. 193 (5): 1479–1485. doi:10.1016/j.juro.2014.11.099. ISSN 1527-3792. PMID 25498568. Check date values in:
|date=(help)