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Familial clear cell renal cancer
2003-10-01
Anita Bonné
 ,
Danièlle Bodmer
 ,
Marc Eleveld
 ,
Eric Schoenmakers
 ,
Ad Geurts van Kessel
 
Affiliation
Identity
Name
Familial clear cell renal cancer
Note
Renal cell carcinomas (RCC) represent 85% of all primary renal tumors. In general, RCCs are sporadic tumors but cases of familial RCC have also been reported. If detected early and without metastases, the disease can be cured surgically with conservation of renal function. Both familial and sporadic cases have in common the presence of abnormalities involving chromosome 3, suggesting a primary role for this chromosome in RCC causation, particularly the clear cell type. An early gene rearrangement due to translocation may be a primary event. Loss of 3p and somatic mutation(s) in a tumor-surpressor-gene(s) on 3p (e.g.VHL) may be recurring events related to tumor progression
Inheritance
The inherited form of renal cancer is characterized by :
, - the tumor is found at an early age compared to sporadic tumors (see below)
, - the tumors are found frequently bilateral
, - multiple occurrence.
, Other (well known) classes of inherited renal cell carcinomas are:
,
the Von Hippel-Lindau syndrome, and ,
the Lynch syndrome II.
, Also chromosome abnormalities may be related to inherited renal cancer.
Omim
144700
Mesh
D002292
Orphanet
404511 Clear cell papillary renal cell carcinoma
Umls
-
Clinics
Note
No phenotypic sign.
Neoplastic risk
Multiple and\/or bilateral nonpapillary renal cell carcinomas, with median age 45 yrs at diagnosis (range 18-79 yrs, most cases being between 35 and 55 yrs old).
Treatment
If the tumor is detected at an early stage the tumor can be surgical removed, without the lost of the renal function.
Prognosis
Depends on the stage of the tumor at the time of detection.
Cytogenetics
Note
Clear-cell renal cell carcinomas are associated with chromosome 3 translocations and deletions of 3p.
Genes involved and Proteins
Alias
FRAGILE SITE 3p14.2, INCLUDEDFRA3B, INCLUDED
Note
FHIT is a breakpoint spanning gene on chromosome 3 in a constitutional familial case of a t(3;8)(p14;q24) translocation.
Description
10 exons
Note
TRC8 is a breakpoint spanning gene on chromosome 8 in a constitutional familial case of a t(3;8)(p14;q24) translocation.
Note
Dirc2 is a breakpointspanning gene on chromosome 3 in a constitutional familial case of a t(2;3)(q35;q21) translocation.
Description
The gene spans 73 kb, 9 exons.
Expression
Expression in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.
Localisation
Proximal tubular cells of the kidney.
Function
May be a transporter.
Note
Dirc3 is a breakpointspanning gene on chromosome 2 in a constitutional familial case of a t(2;3)(q35;q21) translocation.
Description
The gene spans 3071 bp and contains 12 exons.
Note
Dirc1 is a breakpointspanning gene on chromosome 2 in a constitutional familial case of a t(2;3)(q33;q22) translocation.
Description
DIRC1 gene contains 2 exons and spans approximately 57 kb of genomic DNA
To be noted
Case report
END_TO_BE_NOTED
Bibliography
Pubmed ID
Last Year
Title
Authors
11912179
2002
Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21).
Bodmer D et al
12939738
2003
Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21).
Bodmer D et al
11587072
2001
The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.
Druck T et al
12032852
2002
The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway.
Gemmill RM et al
12522559
2003
Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1).
Meléndez B et al
11776380
2001
Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.
Podolski J et al
6704944
1984
Involvement of band 3p14 in t(3;8) hereditary renal carcinoma.
Wang N et al
6852828
1983
A new inducible fragile site on chromosome 3(p14.2) in human lymphocytes.
Wegner RD et al
External Links
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OMIM
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MeSH
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