jennifer mackey wilms tumor

8/9/2019 Jennifer Mackey WILMS TUMOR

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by Jennifer Mackey



Wi l m

s ’

T um

or

o NEPHROBLASTOMA inc il!reno "isco#ere! by Ma$ Wilmsin %&''o WT% is a (umor su))ressoro %*+%,- !ue (o WT%inac(i#a(ion

.i!ney MR/0Sco(( e( al12



BUT, MUTATED WT1 IS ALSO

FOUND IN OTHER CANCERS!!



BUT, MUTATED WT1 IS ALSO

FOUND IN OTHER CANCERS!!

AND AS WE WILL SEE - IT IS NOT

ALWAYS A TUMOR SUPPRESSOR!!!



WT1 is alter ati el" s#li$e% t&'a(e 'a " #r&tei is&)&r's

(Wagner, K.D. et al., 2003)



s a tra s$r #t &)a$t&r

(Scholz, H. et al., 2005)

0E$on '40E$on,4



WT1 is a tra s$ri#ti&)a$t&r



WT%’s normal biolo5ical

func(ionso "e#elo)men( of 5eni(ourinary

sys(emo "e#elo)men( of ki!neyo A!ul( ki!neyo Hear( !e#elo)men(o Neuron !e#elo)men(6



WT1 -*-

• !ies E%3+bir(• no ki!neys• no 5ona!s

•se#ere abnormali(ies of re(inal!e#elo)men(

wt KO0.rei!ber5 e( al12 %'



WT1 -*-

• !ies E%3+bir(• no ki!neys• no 5ona!s

•se#ere abnormali(ies of re(inal!e#elo)men(

WT1 +*-

• increase! mor(ali(y !ue (o a!ul( onse(ne) ro(ic syn!rome 8 renal failure



is re ire% )&r (i% e" %e el&#

(Scholz, H. et al., 2005)



ADULT.IDNEY

(()9::en1;iki)e!ia1or5:;iki:/ma5e9<ray%%



0Sc arn ors(2 =1 e( al12 3**%4

#art &) a tra s$ri#ti& al re/ lat&r" eT at is $riti$al )&r (i% e" %e el&#'e t



0Sc arn ors(2 =1 e( al12 3**%4

#art &) a tra s$ri#ti& al re/ lat&r" eT at is $riti$al )&r (i% e" %e el&#'e t

WT1 TAR2ET 2ENES IN3OL3ED IN .IDNEYDE3ELOPMENT4

A'# ire/ li 4 s(imula(es ure(ic bu!

BCL-54 enco!es an(ia)o)(o(ic )ro(ein

E-$a% eri 4 mesenc yme con!ensa(ion



REMEMBER 9 WT% > !i?eren(ia(ion



WT1 6

PROLIFERATION!!



Wil's t '&r

• Mos( are s)ora!ic an! unila(eral• %*+%,- of s)ora!ic a#e WT% inac(i#a(ion• Mos( o( ers a#e i5 le#els of WT% e$)ression• @%*- are bila(eral an!:or mul(ifocal

(()9::;;;1sain(e+ us(ine1o



Wil's t '&r


WA2R 7 W il's8 t '&r, A iri%ia, G e it& ri ar" a9 &r'alities,

M e tal retar%ati& :• <ermline !ele(ion• Pre!is)osi(ion (o WT

(()9::en1;iki)e!ia1or5:;iki:/ma5e9BlackEyesAnir



Wil's t '&r


WA2R 7Wil's8 t '&r, a iri%ia, /e it& ri ar" a9 &r'alities,

'e tal retar%ati& :• <ermline !ele(ion• Pre!is)osi(ion (o WT

De "s-Dras S" %r&'e 7DDS:• <ermline mu(a(ions 0missense mu(a(ion in inc Cn5er !omain4

• "ominan(+ne5a(i#e ac(i#i(y• Pre!is)osi(ion (o WT



Wil's t '&r


WA2R 7Wil's8 t '&r, a iri%ia, /e it& ri ar" a9 &r'alities,

'e tal retar%ati& :• <ermline !ele(ion• Pre!is)osi(ion (o WT

De "s-Dras S" %r&'e 7DDS:• <ermline mu(a(ions 0missense mu(a(ion in inc Cn5er !omain4

• "ominan(+ne5a(i#e ac(i#i(y• Pre!is)osi(ion (o WT

Frasier S" %r&'e•<ermline )oin( mu(a(ion in ( e in(ron ' !onor s)lice si(e•Loss of .TS 0+4 > ra(io !is(urbe!•WT #ery rareD



A$ te '"el&i% le (e'ia7AML:4 WT% o#ere$)resse! inleukemic blas(s

(()9::en1;iki)e!ia1or5:;iki:/ma5e9Auer ro



A$ te '"el&i% le (e'ia7AML:4 WT% o#ere$)resse! inleukemic blas(s

Breast $a $er4 e$)ression of WT% !e(ec(e! in ma ori(y ofBF’s e#alua(e!

www.hopeforcancer.com/ rea!t"ancer.html



A$ te '"el&i% le (e'ia7AML:4 WT% o#ere$)resse! in leukemic blas(s

Breast $a $er4 e$)ression of WT% !e(ec(e! in ma ori(y of BF’s e#alua(e!

Re al $ell $ar$i &'a4 o#ere$)ression of WT% in (ubular e)i( elial cellsin a!ul( oo!

(()9::en1;iki)e!ia1or5:;iki:/ma5e9



&*- of (umors can be (rea(e!successfullyDDD

REFERENC



REFERENCES

.rei!ber52 Jor!an A1 e( al1 %''71 WT+% /s ReGuire! for Early .i!ney "e#elo)men(1Fell I9 '+ '%1

Loeb2 "a#i! M1 an! Saras;a(i Sukumar1 3**31 T e Role of WT% in Onco5enesis9 Tumor Su))ressor or Onco5ene6 /n(erna(ional Journal of Hema(olo5y 9 %% +%3 1

Sc arn ors(2 =olk er e( al1 3**%1 WT% )ro(eins9 func(ions in 5ro;( an!!i?eren(ia(ion1 <ene 3 79 %I%+% %1

Sc ol 2 Hol5er an! .arin M1 .irsc ner1 3**,1 A Role for ( e Wilms’ Tumor Pro(einWT% in Or5an "e#elo)men(1 P ysiolo5y 3*9 ,I+,'1

Sco((2 Farly M1 e( al1 3**%1 Wilms Tumor9 A Primary Fare Fase S(u!y An!"i?eren(ial "ia5nosis1 T e /n(erne( Journal of A!#ance! Nursin5 Prac(ice,9 Number %1

Wa5ner2 .+" e( al1 3**71 T e com)le$ life of WT%1 Journal of Fell Science %% 9% ,7+% ,&1 Wa5ner e( al1 3** 1 /n(erme!ia(e Clamen( )ro(ein nes(in is e$)resse! in

jennifer mackey wilms tumor

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