483
275610226014562119
PŘEHLEDOVÝ3675207016974156235334409485586692777867
ČLÁNEK4580207016989163260360438521
Ces38057936014570127174
Urol40047936014578115180208
2020;42377936014562121178237261
24(1):45247936014561118151206230252
26–4148017936014562120184249301
agresivitě624898013151114148203247271324349386440
a1091898013162
metastatickém1190898013192149185238281319372407432484532588681
potenciálu,1898898013172135170225286338363415440500521
a2447898013161
tedy2535898013145100163215
i6241048013123
v6731048013152
následné7541048013159110152176231293353408
léčbě1189104801312580132193249
a14651048013152
dispenzarizaci.1545104801316084125187243303349402436461507559610634655
KLÍČOVÁ6251334014770132164236320392464
SLOVA11161334014762123207279351
Genetika,6241498013170124182236269291336387405
hereditární10531498013167121152204264286319369400459481
syndrom,1557149801314999158218249306397415
renální1996149801314092150199221279300
karcinom,23201498013154105137184205263322412430
surveillance,624164801314196127178229250271291339395443493508
zárodečná1154164801314494124180239291339396443
mutace.16191648013190146179227275324341
SUMMARY6251934014762143243345423493561
Kolář7742098013156116141191224
J,1024209801316179
Pitra11292098013179101136170222
T,1377209801317587
Pivovarčíková14902098013179101153212263315348397420470529580632
K,21472098013179102
Jaklová22742098013162113160186246297349
R,26492098013179101
Zavoral6242248013159108155210241290311
T,958224801315161
Trávníček1041224801315275124170228249295345390
I,1454224801312239
Sedláčková15152248013151103163184231278322378425474
H,2011224801316987
Procházková2120224801315584140188245293336381437484533
K,2675224801315575
Vaněček6242398013156102159210258308352
T,999239801315162
Hes10832398013170122161
O,1267239801317388
Hora13772398013170127158207
M.16062398013186105
Hereditary17332398013170122152203262282315363393444
renal2200239801313283139187208
cell2431239801314999120141
car‑2594239801314998128156
cinoma624254801314970126183272320
syndromes.967254801314088146204234290378430469488
In774269801312379
recent875269801312777124173229259
years,1152269801314898144173213229
there1404269801312985136165215
has16362698013159106144
been17972698013160112164220
an20342698013150106
increase2162269801311873120150199246283335
in2519269801311873
the2615269801312884136
number6242848013159115203261314344
of988284801315986
defined10942848013160112136163219271330
hereditary14442848013159111141192251272304353383433
syndromes,1897284801314190148206236291380432471489
some2406284801314198186238
of2664284801315986
whichmay6242998013179137157204261369417462
predispose1104299801316192142201222259317375414466
to1593299801312984
kidney1695299801314769127184236282
cancer.1995299801314998154202251282294
Hereditary23072998013170122152202261282314362392443
renal624314801313281137183204
cell845314801314897117137
carcinoma999314801314996125170190245301388434
syndromes1450314801314188144202231285372423461
are1928314801314978128
often2073314801315784119168224
suggested2314314801314094151208259297329378436
by6243298013160105
early746329801315399128149195
age9583298013150107158
of1133329801315884
onset,12343298013158114152203234251
family1507329801312472158178198244
history1768329801315979116148202232282
of2067329801315884
kidney2168329801314668125181232277
cancer,2462329801314996152198247277288
multifocal6243448013190146168200221248304353402423
or1070344801316697
bilateral1197344801316082103150182232262311332
lesions1552344801313183122142199256295
and18703448013157114172
the2065344801314198151
presence2246344801316091142181233290338388
of2657344801316693
other624359801315991149201232
extrarenal8803598013161108144175225256307364413434
lesions1338359801313083123143201259298
typical1659359801314293153175223273294
for1977359801313693124
the2125359801314199152
respective2300359801314091131190243293328350398450
syndrome.624374801314190149208239295384437453
The11013748013158118171
most13023748013191149188222
common15483748013156112201290348406
encountered19773748013161119167222280337369419450501561
syn‑2561374801314998156189
dromes624389801316193150241295335
are983389801315990142
von11493898013158116175
Hippel1356389801317192152214268291
Lindau,1671389801315780138198247305323
Birt-Hogg-Dubé,2018389801316486118155183255314375435468541601661716732
hereditary6244048013159111141192251271304352382433
papillary10754048013161110168189210231278308359
renal1457404801312878135182204
cell1679404801314999120141
carcinoma,1838404801314997128173194250307396444461
hereditary23174048013159111141192251271304352382433
leiomyomatosis62441980131237596152241286342431478509564603623661
and13044198013150107165
renal1492419801312879135183204
cell1715419801314999120141
carcinoma,1875419801314997128173194250307396444461
succinate2355419801314196144189210266314345395
dehydrogenase6244348013160112169215272303358418470527575614666
deficient13134348013167119144170218239291348379
renal1715434801313990147195216
cell19544348013157107128149
carcinoma,21264348013156105135181202259316405453471
tu‑2620434801314198130
berous6244498013161114144199256294
sclerosis941449801314795116167198253292312350
complex13144498013155110198257279330377
and17144498013155112170
Cowden19134498013163118195252304361
syndrome.2297449801314695153211241296385437453
Related6244648013156108129177208257317
to964464801313489
hereditary10764648013159111141191251271304352382433
renal1532464801313283140187208
cancer1764464801314997154201251281
syndromes,2068464801314290148206236292380432471489
ger‑25804648013160112142170
mline6244798013190111132188240
mutations8944798013190146178227258279335393431
in1348479801312986
tumor1457479801314097185242273
suppressor17534798013148103161220251302341380437468
genes22504798013160112169221260
(VHL,2539479801312984148192211
BAP1,6244948013153109158202214
PTEN,859494801315399146209227
TSC1,1108494801314895151195206
TSC2)1336494801314895151201225
and15844948013154110169
protooncogenes1779494801316192148179234292349397451511562619671710
(MET)25164948013129108154203234
are624509801315181133
described.7805098013168121160209240262321375435453
Different1264509801317294123153205236287345376
histological1664509801316687126160216239296357378426475497
subtypes21855098013148104164196247308362402
are2610509801315889140
found624524801312984141197255
among8965248013150137194251309
hereditary12235248013158110140190248269301349379429
kidney1670524801314668126182234280
cancer1968524801314897153200249279
syndromes.2265524801314188146204234289377428467485
The6245398013151109160
degree8025398013159110169199248300
of1120539801315885
kidney1223539801314668125181233279
cancer1519539801314997153200249279
penetrance,18165398013160112168220251281329385432481497
tumor2335539801312985172228259
ag‑26115398013150108139
gressiveness,624554801316090140180218238287337394446485524541
metastatic11945548013190142174222261295343374395442
potential16655548013160118150200256287308355376
widely20705548013179101159210232279
vary23725548013155104134184
and25795548013156112171
the624569801313491143
treatment790569801313969120167198286338395425
and12385698013155112170
surveillance14315698013146101131183234254275296343400448497
of1956569801315886
kidney2065569801315174132188240287
cancer23755698013154102159206256286
is2684569801312866
different624584801316081109138189220270327357
among10035848013150138195253311
hereditary13365848013159111141192251271304352382433
syndromes.1792584801314088146205235290379431470488
KEY6256134014770134206
WORDS85861340147105189260345408
Genetics,6246298013169120176227258278324363380
germline10316298013160111140227248267322373
mutation,14326298013190145176223253273329385401
hereditary18606298013159110139189247266298345374424
syndrome,2306629801314693150208237291378429444
renal624644801313282137184204
cell848644801314997118137
carcinoma,1005644801314997126170190245301389435452
surveillance.1476644801314195125175225244264284330386432481496
………62467340147120240360
ÚVOD6257158018197183286388
Většina7747498013156106138179199256304
renálních1101749801314090148195217273294341398
karcinomů15227498013154104135180201258316405461
(RCC2006749801313690151208
–22377498013163
Renal23237498013163115172220241
Cell25947498013163114135156
Carcinoma)6247648013163112143189210267325414462487
vzniká11357648013157103161182226277
sporadicky,14357648013148107166197246305326374419470482
hereditární19407648013167119150201260282314363394452473
nádory24367648013167115174231263314
ledvin2976554801312478139189212270
tvoří3271554801314295153185207
dle3503554801316891144
literatury367155480131325387139170221253312344396
3–840915548013163119175
%42975548013184
všech4405554801315899153203262
renálních4691554801314093152201223282303352411
tumorů2976569801313491178236267324
(1,332356980131307687
2).343456980131547993
V35515698013156
rámci3630569801313483170218239
výzkumného38935698013150101146191248336393445502559
programu4476569801316192147206237285373429
„the4928569801313465122174
Cancer29765848013163111168216265296
Genome33005848013169122178235324376
Atlas3705584801316494115163202
(TCGA)“,3930584801313488146208271298326337
v42905848013155
němž43745848013159110198241
byly46445848013160106129175
analy‑48425848013156113160181228260
zovány29765998013144100147196252297
mimo32985998013190111199256
jiné3577599801312546103155
i37545998013126
zárodečné3802599801314797127182241293341398450
mutace42775998013190146179227275324
u46265998013159
RCC,47105998013155116173191
byla49265998013160106129176
u29766148013158
630536148013154
%31256148013181
případů3225614801316091112171220278334
světlobuněčného3577614801314190141173194251310367424476524580632689746
renálního4346614801312879135183204261281340397
karcino‑4762614801314696126172192249306340
mu29766298013191148
z31476298013152
celkového32236298013156107129173230277329387445
počtu36986298013162120169205262
38739846298013161113162
prokázána4177629801316192149194245289339397445
zárodečná46466298013151102133189249301350408456
patogenní29766448013160109139193252303359415435
mutace;34296448013189145177224271320336
u37836448013158
papilárního38586448013161109167188208255285342362420477
renálního4357644801312777133180201257277335392
karcino‑4766644801314796125170191246303336
mu29766598013190146
byla31526598013160106129176
zárodečná33516598013151101131186245297345402450
patogenní38306598013161110141196255307363420441
varianta42946598013156104135156203260291339
prokázána4663659801316091147192241285335391439
v29766748013150
930456748013154
%31186748013181
a32186748013150
u32876748013158
chromofóbního33656748013149105135191279337364420479537557616673
renálního4061674801312979136184205261282341398
karcinomu4478674801314696126172193249306395451
pak49486748013161110154
v29766898013150
630476898013153
%31216898013181
(3).3225689801312877101115
V33616898013156
posledních34386898013161119158179230289346367414470
letech3931689801312173105155203260
dochází42126898013160117165222270313335
ke4568689801314697
zvyšování4686689801314496147186243290339395416
počtu29767048013161119167202258
popsaných32567048013161119178217267323368414471
hereditárních37497048013159111141192251272304352383440461508564
syndromů,4336704801314089147205235290379435452
z48107048013144
nichž4876704801315979127183226
některé29767198013160112157193244275326
jsou3325719801313170128185
spojeny35347198013148107166188240298343
s39017198013148
predispozicí3980719801316193144204225264322381423445493514
k45177198013155
RCC.45957198013163125183201
V48197198013164
roce4906719801314096146196
201629767348013154104151197
byly32027348013161107130177
do34087348013160117
WHO35557348013191159231
klasifikace3809734801315477124163183208235279329376426
nádorů42587348013166114172229260317
ledvin4598734801313182142190212268
zařa‑48897348013152101131180213
zeny2976749801314495152197
podjednotky32037498013161120179200252311368426457502552
asociované3779749801315795153201222279326375432484
s42877498013148
genetickými43587498013167119176228260281329373424513534
syn‑4915749801314897155187
dromy2976764801316090145234279
–32787648013155
sukcinátdehydrogenáza33567648013141971411872072643123433994515085536106406967558078639119541004
(SDH)-deficientní4383764801312976144211238271331383408434482502554611641699719
Obr.29762474013780147190214
1.3220247401376286
CT,33632480013160111124
transverzální3507248001313970122179214261306337382436458514536
řez.4063248001313983128148
Muž,42382480013184139182201
3744602480013158102
let,4583248001312976108127
VHL47372480013155121166
syndrom.49232480013146911472976263001315789143233253
18mm32502630013159105194283
tumor3554263001314097186242274
předního3856263001315789134191249271330386
rtu4263263001313974131
solitární44152630013146101124147179232264322344
ledviny.4780263001313078134182204262306322
V29762780013156
roce3053278001313994141186
200632602780013159109163216
provedena3503278001315789144191237293341398454
laparoskopicky3978278001313087143200232286324368423480503549594643
asistovaná4649278001315794115151184238285339397453
radiofrekvenční2976293001313283137159213241272316360409453509553608629
ablace.36322930013155110132186231274293
Před3945293001315988132187
tím4151293001313960146
opakované43242930013155110165209262308360416462
výkony48062930013153100144197253296
na29763080013156108
ledvinách3103308001311963117161182235288332385
pro3504308001315484135
ccRCC3655308001314586136193245
(transperitoneální391930800131255281131185219271316345366395446501545598619673693
nefrektomie46273080013156101127157200243275326411431475
vlevo,2976323001314668113159213230
2x3231323001315095
resekce3346323001313680117162206250293
pravé3664323001315586137182227
ledviny,3910323001312773128174195250293308
exstirpace4238323001315096134165186216271326371415
metastázy46773230013187133164216252283335378425
ccRCC2976338001314688140198252
z32463380013143
levého3309338001312066112156212266
retroperitonea).3595338001312973105135188243289320341372424480526581606621
Stav4234338001314877129174
po44263380013155110
inguinální4556338001312176130185206262316338393414
orchiektomii49883380013155862976353001314599120164207240291376397417
vlevo3409353001314666111156208
pro3633353001315484136
papilární37853530013154108162183203256286341361
cystadenomnadvarlete4162353001314590126156207260305360413498570622676721772802822867898940
a29763680013155
stav3051368001313869121167
po32383680013155110
exstirpaci3368368001314692130161182212267322367388
hemangioblastomu37763680013157103189243299353374429484506560596627679766820
mozečku46163680013187142183227272315370
Fig.2976382401375884147173
1.3168382401376183
CT33023830013159108
scan,3426383001313880130184200
transverse3644383001313058107161194237279308343386
plane.4046383001315575127180224240
Thirty-seven43033830013148103122150181226256290333377419473
year4792383001314487139168
old4976383001315575127
male29763980013187139159202
with3194398001317695123176
a33863980013156
VHL34573980013155118160
syndrome.3633398001313880134186214265349393409
18mm4058398001315193177261
tumor4335398001313285169221250
in4602398001312174
the4692398001313285128
ventral4836398001314688142170198247266
portion29764130013155108137169188240293
of3290413001315580
the3388413001313588132
solitary3537413001314293112132160210238283
kidney.3841413001314565117171214257270
The41324130013149103147
laparoscopy-assisted4296413001312678131184212262296338387440481511565599633651683712754806
radiofrequency2976428001313280133152204229259300353405449502545589
ablationwas35804280013156108128180208227279333425476510
performed41054280013156100128156207236320364416
in4539428001312174
2006.4629428001315197146195213
Before4858428001315397122173202244
that,2976443001313388142172189
multiple31884430013190144165194214268289334
kidney3541443001315172127182227271
surgeries3831443001314497126178223253273318354
were42094430013178122152195
done44284430013157111166212
because46634430013157103148200254289333
of5020443001315682
the2976458001313285129
ccRCC3126458001314687136192243
(left338745800131335296121153
transperitoneal3558458001313664113166199250295323342370421474518570590
nephrectomy,41694580013157101153207235277320350401485525538
2x4729458001315193
partial48444580013155108136168187238258
nephrectomy29764730013157100153207235277320350400485525
of3519473001315580
the3616473001313386129
right3763473001313150102156183
kidney,3964473001314565118171215257270
extirpation4251473001314791122141169221274303322374428
of4696473001315580
the4794473001313285129
metastasis494047300131871312976488001313282116145195229247280
of3278488001315580
the3376488001313790134
ccRCC3532488001314687137193245
from3795488001313262112197
left401048800131277197129
retroperitoneum).4157488001313678108136187240285313333361412466510563647670683
Status4862488001314875125154207240
post29765030013155108142171
left316450300131277196128
inguinal3310503001312780132184203257309328
orchiectomy3660503001315583124177196239282313363447488
(papillary4165503001313385138191211230249301329374
cystadenoma4561503001314690125153203255299353405489541
of2976518001315580
the3068518001313285129
epididymis).32095180013147100119171191243285369388421443455
Status3677518001314874124152205238
post39275180013155108142171
extirpationof4110518001314790122141169221274302321373427494519
thehemangioblastoma46425180013132851281972413253774302976533001315575127179199251285314364448500
of3492533001315580
the3587533001313285129
cerebellum3731533001314687116157210254273293345429