Editing Pediatrics: Renal and Adrenal Oncology (section)

=== Genetics ===
* '''<span style="color:#ff0000">Majority arise from somatic mutations</span>''' restricted to tumor tissue; '''much smaller percentage originate from germline mutations'''
*'''Genes associated with Wilms tumor (4): WT1''', 11p15, WTX, CTNNB1, TP53
** '''WT1'''
***'''Tumor suppressor gene''' 
***'''Located on chromosome 11'''
***'''Mutations''' 
****'''Found in Denys Drash, Frasier, and WAGR syndromes'''
****'''Predispose patients to renal insufficiency'''
* '''<span style="color:#ff0000">Syndromes associated with Wilms tumours (4):</span><span style="color:#0000ff"> Bruce Willis' Dish Feels Warm'''
*#'''<span style="color:#0000ff">B</span><span style="color:#ff0000">eckwith-</span><span style="color:#0000ff">W</span><span style="color:#ff0000">eideman'''
*#'''<span style="color:#0000ff">D</span><span style="color:#ff0000">enys Drash'''
*#'''<span style="color:#0000ff">F</span><span style="color:#ff0000">rasier'''
*#'''<span style="color:#0000ff">W</span><span style="color:#ff0000">AGR'''

{| class="wikitable"
|'''Syndrome'''
|'''Genetics'''
|'''Associated Features'''
|'''Risk of WT (%)'''
|-
|'''<span style="color:#ff0000">Beckwith-Weideman'''
|11p15.5

WT2
|'''Wilm's Tumour'''

'''<span style="color:#ff0000">Hemihypertrophy (growth asymmetry)'''

'''Macroglossia'''

'''Nephromegaly'''

'''Hepatomegaly'''

Pre- and post-natal overgrowth

Anterior abdominal wall defects

Ear creases/pits
|7
|-
|'''<span style="color:#ff0000">Denys Drash'''
|'''WT1'''
|'''Wilm's Tumour'''

'''Genital abnormalities''' (under-masculinized male manifested by cryptorchidism and proximal hypospadias)

'''Nephropathy''' (mesangial sclerosis, membranoproliferative glomerulonephritis) with early onset proteinuria (common denominator of syndrome)
|74
|-
|'''<span style="color:#ff0000">Frasier'''
|'''WT1'''
|'''Wilm's Tumour'''

'''Genital abnormalities'''

'''Nephropathy (focal segmental glomerulonephritis)'''

'''Gonadoblastoma'''
|6
|-
|'''<span style="color:#ff0000">WAGR'''
|11p13

'''WT1,''' PAX6
|'''Wilm's Tumour'''

'''<span style="color:#ff0000">Aniridia (absence of the iris)'''

'''G'''enital abnormalities

Mental '''R'''etardation
|98
|}

* '''Beckwith-Wiedemann syndrome (BWS)'''
** '''Results in excess growth at the cellular,''' '''organ (macroglossia, nephromegaly, hepatomegaly),''' '''or body segment (hemihypertrophy) levels'''
** '''Children with nephromegaly are at the greatest risk for the development of Wilms tumor.'''
* '''Denys-Drash syndrome'''
** Majority progress to end-stage renal disease.
** Although XY individuals have been reported most often, the syndrome has been reported in genotypic/phenotypic females.
** One should have a high index of suspicion for the development of renal failure and Wilms tumor in patients with under-masculanized male disorder of sexual differentiation
* '''Other syndrome associated with Wilm’s tumour:''' 
**'''Perlman'''
**'''Mosaic variegated aneuploidy'''
**'''Fanconi anemia D1'''
**'''Simpson-Golabi-Behmel'''
**'''Li-Fraumeni'''
**'''Neurofibromatosis'''
**'''Sotos'''
**'''Trisomy 18'''
**'''Bloom'''