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Line 314: − + − + − § ''[[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)+ − + − Line 330:
Line 329: − |[9<ref +
Renal Cell Neoplasia Tables: Recurrent Cytogenomic Alterations (view source)
Revision as of 13:40, 19 May 2021
, 13:40, 19 May 2021Minor tidying of references
{{DISPLAYTITLE:Renal Table: Recurrent Genomic Alterations Detected by Chromosomal Microarray}}
{{DISPLAYTITLE:Renal Table: Recurrent Genomic Alterations Detected by Chromosomal Microarray}}
'''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.
'''Table 1 - Recurrent Genomic Alterations in Renal Cell Neoplasia Detected by Chromosomal Microarray (Literature Review)'''. Genetic alterations and their associated clinical significance in major types of renal cell neoplasia. Table derived from Liu et al., 2020 [PMID 32434132] with permission from Cancer Genetics.
{| class="wikitable"
{| class="wikitable"
| colspan="8" |'''WHO Classification'''
| colspan="8" |'''WHO Classification'''
|15-20%
|15-20%
|15-20%
|15-20%
| colspan="2" | 1-5%
| colspan="2" |1-5%
| 5%
|5%
| 5%
|5%
|-
|-
|'''Origin'''
|'''Origin'''
|1p- (10%) [2; R]
|1p- (10%) [2; R]
|
|
| 1p- (25%) [2; R]
|1p- (25%) [2; R]
| colspan="2" |1p- (30%) [3; R]
| colspan="2" |1p- (30%) [3; R]
|'''-1''' (90%) '''[1; D]<sup>c</sup>'''
|'''-1''' (90%) '''[1; D]<sup>c</sup>'''
|'''chr17'''
|'''chr17'''
|
|
|'''+17''' (84%) '''[1; D] <sup>c</sup>'''
|'''+17''' (84%) '''[1; D]<sup>c</sup>'''
|17p- (8%) [3; R],
|17p- (8%) [3; R],
| colspan="8" |'''Mutations (SNVs, Indels) [level of evidence; clinical significance]'''
| colspan="8" |'''Mutations (SNVs, Indels) [level of evidence; clinical significance]'''
|-
|-
| Mutated
|Mutated
in >20%
in >20%
|
|
|-
|-
| Mutated
|Mutated
in 10-20%
in 10-20%
|-
|-
|Germline susceptibility
|Germline susceptibility
|§ mainly ''[[VHL]]'' (von Hippel-Lindau Syndrome)
|
*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)
|
|§ ''[[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)
|-
|-
|'''References'''
|'''References'''
|<ref name=
|}
|}
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.