Familial clear cell renal cancer

2003-10-01   Anita Bonné  , Danièlle Bodmer  , Marc Eleveld  , Eric Schoenmakers  , Ad Geurts van Kessel  

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 IDLast YearTitleAuthors
    119121792002Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21).Bodmer D et al
    129397382003Disruption 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
    115870722001The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.Druck T et al
    120328522002The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway.Gemmill RM et al
    125225592003Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1).Meléndez B et al
    117763802001Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.Podolski J et al
    67049441984Involvement of band 3p14 in t(3;8) hereditary renal carcinoma.Wang N et al
    68528281983A new inducible fragile site on chromosome 3(p14.2) in human lymphocytes.Wegner RD et al