TY  - CHAP
M1  - Book, Section
TI  - Bladder Cancer
A1  - Cairns, Paul
A1  - Sidransky, David
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
Y1  - 2019
N1  - 10.1036/ommbid.360
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - Bladder  cancer  is  the  fifth  most  common  male  cancer  among  Americans.  Almost  all  bladder  cancer  in  the  United  States  is  composed  of  transitional  cell  carcinoma.  Familial  cases  are  rare  and  usually  part  of  the  Lynch  syndrome.  Smoking  is  perhaps  the  greatest  risk  factor  for  sporadic  disease.Cytogenetic  studies  have  identified  a  number  of  chromosomal  changes  in  bladder  cancer.  Low-grade  noninvasive  tumors  are  usually  diploid,  whereas  high-grade  invasive  tumors  often  contain  gross  aneuploidy.  Monosomy  of  chromosome  9  is  the  most  common  abnormality  seen  in  this  disease.Few  proto-oncogene  mutations  or  amplifications  have  been  described  in  bladder  cancer.  However,  chromosomal  deletions  are  very  common  on  chromosomes  9p,  17p,  and  13q.  Candidate  genes  inactivated  at  these  loci  include  p16,  p53,  and  Rb,  respectively.  Moreover,  p53  and  Rb  mutations  usually  are  seen  in  flat  (carcinoma  in  situ)  or  invasive  lesions  and  are  correlated  with  a  poor  prognosis.Many  bladder  cancers  appear  as  multifocal  disease  at  presentation.  Molecular  studies  have  shown  that  multiple  tumors  in  the  same  patient  arise  from  the  uncontrolled  spread  of  a  single  progenitor  cell.  These  tumors  then  proceed  through  variable  genetic  events  during  progression.  A  preliminary  molecular  progression  model  for  bladder  cancer  suggests  that  chromosome  9p  is  an  early  loss  event  in  most  tumors.  Conversely,  loss  of  chromosomes  17p  and  14q  is  more  often  associated  with  flat  lesions  and  invasive  tumors.Genetic  alterations  can  be  detected  in  the  urine  sediment  of  patients  with  bladder  cancer.  Microsatellite  analysis  allows  detection  of  loss  of  heterozygosity  (LOH)  or  genomic  instability  in  primary  tumor  and  urine  DNA.  Pilot  studies  suggest  that  most  bladder  tumors  can  be  detected  by  DNA  analysis.  Moreover,  these  approaches  are  amenable  to  automated  techniques  suitable  for  the  clinical  setting.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
M3  - doi: 10.1036/ommbid.360
Y2  - 2024/04/16
UR  - ommbid.mhmedical.com/content.aspx?aid=1181417059
ER  -