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Solid Tumour Section
Review
Bladder: transitional cell carcinoma
Jean-Loup Huret, Claude Léonard
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH), Cytogenetique, Laboratoire d'Anatomo Pathologie, CHU Bicetre, 78 r Leclerc, F94270 Le KremlinBicetre, France (CL)
Published in Atlas Database: October 2000
Online updated version : http://AtlasGeneticsOncology.org/Tumors/blad5001.html
DOI: 10.4267/2042/37676
This article is an update of:
Huret JL, Léonard C. Bladder: Transitional cell carcinoma. Atlas Genet Cytogenet Oncol Haematol.1999;3(4):205-206.
Huret JL, Léonard C. Bladder cancer. Atlas Genet Cytogenet Oncol Haematol.1997;1(1):32-33.
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Identity
Bladder cancer: gross pathology: the bladder wall is massively infiltered by an ulcerated and hemorragic tumor. Courtesy Pierre
Bedossa.
Classification
Clinics and pathology
Note
Existence of different histologic types:
Transitional cell carcinoma of the bladder, herein
described,
Squamous cell carcinoma,
Adenocarcinoma (2%), rare,
Poorly differenciated carcinoma/small cell carcinoma,
exceptional.
Disease
Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4)
Cancer of the urothelium.
Epidemiology
Transitional cell carcinoma is the most frequent bladder
cancer in Europe and in the USA, representing 90-95%
of cases, while squamous cell carcinoma represents
212
Bladder: transitional cell carcinoma
Huret JL, Léonard C
Chromosome 3: implicated in 30%, mostly in complex
karyotypes; amplifications 3p21-24, 3q24 have been
found; del(3p) is associated with high grade/stage.
Chromosome 4: deletions in 20%, in particular in 4p16
and 4q13-23; amplification of 4q26 has been noted.
Chromosome 5: i(5p) occurs in 35% of cases.
Chromosome 6: del(6q) in 25%; may be correlated
with tumour invasion.
Chromosome 7: trisomy 7 is frequent in this cancer, as
well as in many other cancers, but also in normal
tissues; may still be of bad prognostic significance.
Chromosome 8: del(8p) in 25%; deletion of 8p12-pter,
8p22 in particular, may be associated with high
grade/stage; gains of 8q (especially 8q23-qter) may be
associated with tumour progression; however, C-MYC
(8q24) is rarely amplified.
Chromosome 9: monosomy 9 or deletions of
chromosome 9 are found in about 50% of cases; at
times found as the sole anomaly, demonstrating that it
is an early event, found equally in PTa stage and in
more advanced stages; not associated with a given
grade, and not correlated with P53 expression; it has,
however, recently been hypothezised that monosomy 9
could indicate a risk of recurrence; LOH appear to be
numerous within a given chromosome (e.g. LOH in
9p21, 9q22, 9q31-32, 9q33 and 9q34), but loci remain
to be precised, as reports are controversial;
homozygous deletions of CDKN2A/MTS1/P16 (9p21)
have been documented; LOH + mutation on the second
allele of CDKN2A are rare, but of significance;
CDKN2A is implicated in Pta stage but not in PTIS,
where P53 is found mutated;
CDKN2B/INK4B/P15 (9p21) is also implicated in a
small subset of cases; PAX5 (9p13) may be overexpressed in tumours; GSN (9q34) has a very low
expression in tumours in comparison with its
expression in normal bladder; LOH + mutation on the
second allele of TSC1 (9q33-34) has recently been
described.
Chromosome 10: del(10)(q23-25) has been noted;
PTEN (10q23), appears to be implicated in a very few
percentage of cases (homozygote deletion has been
found); Fas/APO1/CD95 (10q24): loss of one allele
and mutation in the second allele has been reported; a
hot-spot of mutations has been determined;
amplification 10q13-14 has been found.
Chromosome 11: monosomy 11 or del(11p) is found
in 20 to 50% of cases, more often in high grade and
invasive tumours, associated with tumour progression,
often found at the time of tetraploidisation; LOH in
11p15.1-p15.5; HRAS1 (11p15.5) is mutated in 15% of
cases; amplifications of 11q13-22 have been noted, but
would not be a prognostic factor.
Chromosome 12: del(12q) in 20%; amplification of
12q13-15 and/or 12q15-24 may be found.
Chromosome 13: del(13q) is found in 25% of cases;
correlated with high grade/stage; an altered Rb (13q14)
is expressed in 30 to 40% of tumours; these are high
only 5% in these countries, but up to 70-80% of cases
in the Middle East. Annual incidence: 250/106, 2% of
cancers, the fourth cancer in males, the seventh in
females, 3M/1F. Occurs mainly in the 6th-8th decades
of life. Risk factors: cigarette smoking and
occupational
exposure
(aniline,
benzidine,
naphtylamine); 20 to 30 years latency after exposure.
Clinics
Hematuria, irritation.
Pathology
Grading and staging: tumours are:
Graded by the degree of cellular atypia (G0->G3), and
Staged:
- pTIS carcinoma in situ (but high grade), and
- pTa papillary carcinoma, both mucosally confined;
- pT1 lamina propria invasive;
- pT2 infiltrates the superficial muscle, and
- pT3a, the deep mucle;
- pT3b invasion into perivesical fat;
- pT4 extends into neighbouring structures and organs.
Treatment
Resection (more or less extensive: electrofulguration -> cystectomy); chemo and/or radiotherapy, BCGtherapy.
Evolution
Recurrence is highly frequent.
Prognosis
According to the stage and the grade; pTa is of good
prognosis (> 90% are cured); prognosis is uncertain in
pT1 and G2 tumours, where cytogenetic findings may
be relevant prognostic indicators. 20% survival at 1
year (stable at 3 years) is found in T4 cases; however,
identification of individual patient's prognosis is often
difficult, although of major concern for treatment
decision and for follow up.
Cytogenetics
Cytogenetics Morphological
Highly complex: pseudo diploid karyotypes with only a
few abnormalities in early stages, evolving towards
pseudo-tetraploides hyper complexes karyotypes with
numerous unrecognizable markers in advanced stages;
pseudo-octoploidy may arise; the most frequent
anomaies are: +7, -9, -11 or del(11p), del(13q),
del(17p), and rearrangements of chromosomes 1, 5, and
10; monosomy 9 is a very early event, that may even
appear at the dysplastic stage; we will use indifferently
the terms deletion and loss of heterozygocity (LOH) for
chromosome regions, and preferably LOH for genes.
Chromosome 1: implicated in 35% of cases; mainly
del(1p); 1p22 and 1q31 are the most frequently
involved; amplification 1p32 has been noted; P73
(1p36) is often over-expressed.
Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4)
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Bladder: transitional cell carcinoma
Huret JL, Léonard C
stage, invasive, and indicate a short survival; 90% of
tumours expressing Rb are invasives; disregulation of
the normal P16-Rb interactions have been documented,
with hyper expression of Rb and loss of function of
P16; amplification in 13q21-31 has been noted.
Chromosome 14: del(14q) in 25% of cases (especially
14q12 and 14q32); may be associated with tumour
progression.
Chromosome 17: del(17p) in 40% of cases; LOH are
mainly in 17p12-13, 17q11-22, and 17q 24-25;
del(17p) is a late event, mainly found in pT2 to pT4;
also found in a subset of pTIS, which might be a
relevant prognostic indicator for these tumours; P53
(17p13) alterations are correlated with grade and stage
(often PT3), and tumour progression; P53 is mutated in
more than 50% of high grade/stage tumours, and in
most PTIS; P53 is a prognostic factor: by high
grade/stage tumours, those expressing P53 are of a
worse prognosis; by low grade/stage, those not
expressing P53 are of better outcome; there is usually
LOH + mutation on the second allele of P53;
ERBB2/P185 (17q21) is expressed in high grade/stages
tumours, in metastases, and is associated with relapses;
NF1 (17q11) expression may be very low in tumours;
amplification of 17q22-23 has been noted.
Chromosome 18: del(18q) in 25%; associated with
high grade/stage; amplifications of 18q11 and 18q22
have been found.
Chromosome 22: amplification of 22q11-12 has been
noted.
Chromosome Y: Y loss in 30%; probably not
associated with stage, grade, Ki67, or P53 expression.
Other: double minute are found in high grades/stages;
multifocal tumours exhibit genomic instability; this
genomic instability is already present in normal tissus
and is increased in tumour tissus from the same
specimens, suggesting that a general genetic instability
is a reason for multifocality.
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