Cryptorchidism and Wilms' Tumor

Omphalocele

"Abdominal contents separated from outside by thin membrane of peritoneum and the amnion" is what?

Other considerations with wilms post op

1. One kidney left 2. Watch risk with activities 3. BP management critical *risk of renal impairment Slowe orthopedic growth pulmonary complication Monitoring Lungs most common site of relapse Chest x-ray 6 wk postop, Q3 mos x3, Q6 mos x3 then yearly x2 Ultrasound—depends on stage Yearly x6 years Q3 mos x6 years

Type of Cryptorchidism

1. Hidden or obscure -Undescended or maldescended Not in the scrotum 2. Ectopic -Incompletely descended -Retractile -Absent -Atrophic

Features of Undescended testis

1. Milk down, palpating from iliac crest to scrotum (soap or lubrication on fingertips may help). 2. What are the features of the scrotum and its contents? --Is the contralateral testicle hypertrophic? --Is the undescended testis located in an unusual position, such as in an ectopic site --superficial inguinal pouch or transverse scrotal, femoral, prepenile, perineal, or contralateral hemiscrotum 3. Note the presence of any hypospadias or chordee (downward tether)

Associated condition of Cryptorchidism

Cerebral palsy Mental retardation Wilms' tumor Hypospadias Ductal abnormalities Inguinal hernia Abdominal wall defects

Gastroschisis

Congenital malformation of the anterior abdominal wall leading to exposure of abdominal contents

Chordee

penile curve, often seen with hypospadias

Pathophysiology/Histology of Wilms tumor

*Histologic confirmation in North America is with immediate nephrectomy* Lymph node biopsy sampling for staging purposes Metanephric blastema (undifferentiated cells) Immature glomerular structures Epithelial tubules Spindle cell stroma Striated muscle fibers

Tx of Wilms Tumor

1. All stages undergo nephrectomy --Stage I or II with favorable histology (Vincristine/Dactinomycin) 2. Stage II with anaplasia and stages III or IV --Abdominal Radiation --Vincristine/Dactinomycin/Doxorubicin 3. Stage IV with lung metastasis

Common Associated Anomalies

1. Cryptorchidism 2. Double collecting system 3. Horseshoe kidney 4. Hypospadias

Etiology of Cryptorchidism

1. Endocrine abnormalities (most likely) MIS, HCG, LH, GH, Testosterone 2. Gubernaculum abnormalities Fails to pull the testis down 3. Intrinsic testicular or epididymal issues 4. Reduced intra-abdominal pressure --Prune belly syndrome --Omphalocele --Gastroschisis

Risk or Cryptorchidism

1. Fertility issues --Sperm formation and transport abnormalities 2. Increased indirect hernia rates --Patent processus vaginalis 3. Testicular cancer risk Testicular torsion risk Psychological issues *Having an orchiopexy does not eliminate the risk of testicular cancer*

Testicular embryology

1. SRY @ 6 weeks differentiates --Sex determining region on Y chromosome 2. Sertoli cells secrete MIS --Müllerian Inhibitory Substance 3. Paramesonephric regression 4. Wolffian development from Mesonephric duct 5. 28th week testis start to descend—scrotal by 40th

Clinical Presentation of Wilms tumor

1. WAGR Syndrome --Wilms' tumor --Aniridia --Genitourinary abnormalities --Retardation (mental) 2. von Willebrand Disease (PT would be high) --Tumor cells absorb vW factor --Concerning when patient goes for surgery 3. Cryptorchidism -mostly asymptomatic abdominal mass -*urinary tract infection with varicocele* Left because the left testicular vein dumps into renal vein. -Abdominal pain or hematuria only in 25% - HTN, Hematuria and fever

Wilms' Epidemiology

1.Most common childhood abdominal malignancy 2. Wilms tumor affects approximately 10 children and adolescents per 1 million before the age of 15 years (450-500 cases/yr) 3. It accounts for 6-7% of all childhood cancers in North America. 4. In 5-10% of patients, both kidneys are affected at the same time (synchronous bilateral Wilms tumor) or 1 after the other (metachronous bilateral Wilms tumor) Wilms tumor appears to be most common among African Americans and least common in the East Asian population Male:Female 0.9:1.0 for unilateral 0.6:1.0 for bilateral Median age @ diagnosis 3.5 years old

Stage 3 Wilms tumor

A residual, nonhematogenous tumor is present following surgery and is confined to the abdomen Positive lymph nodes in the abdomen or pelvis are noted Penetration through the peritoneal surface is observed Peritoneal implants are present Gross or microscopic tumor remains postoperatively, including positive margins of resection stage IV and V are worse

Labs with Wilms

CBC Chemistry profile—comprehensive metabolic is best Urinalysis Coagulation studies Cytogenetics studies Renal US - 1st line Chest rad- R/O lung metastasis Urinalysis Coagulation studies Cytogenetics studies

Etiology of Wilms tumor

Inborn errors of tumor suppression genes Abnormalities in genes responsible for normal genitourinary development Environmental exposures unlikely to play a role Chromosome 11 deletions

Wilms' Tumor

Nephroblastoma the most common childhood abdominal malignancy

DDX of Wilms Tumor

Neuroblastoma—extracranial "brain tumor" Polycystic Kidney Disease Rhabdomyosarcoma—soft tissue sarcoma

PE of Wilms

Palpable abdominal mass Be gentle to avoid rupture and peritoneal seeding

Risk factors for Cryptorchidism

Prematurity Low birth weight or small size for gestational age Twinning Maternal estrogen exposure during 1st trimester Sibling with cryptorchidism (7%) Father with cryptorchidism (2%)

Treatment Goals of Cryptorchidism

Prevent damage to testis by relocating Heat Torsion Crushing against pelvic bone Improve spermatogenic viability Improve steroidogenesis potential Allow for easier monitoring of cancer Allow for testicular catch-up growth Cosmetic/psychological benefits

Risk of Testicular Cancer

Risk of testicular cancer 3-5% vs. 0.5% in the general population --Intra-abdominal testis highest risk --Most commonly seminoma in undescended --Nonseminomatous germ cell in orchiopexy testis *Orchiopexy not protective against cancer* Risk reduced with pre-pubertal procedure

Timeline for Descent of testicles

Spontaneous descent lowers incidence at 1 year of age to 1% Unlikely to descend after 6 months 80% Palpable Nonpalpable 40% intra-abdominal (near internal ring) 40% inguinal or high scrotal 20% atrophic, ectopic or absent

Retractile Orchidism

Stay inguinal until pulled down manually Will stay in place after manipulation about 50% of the time Monitor until puberty

Prune Belly Syndrome

Weakened abdominal wall musculature in conjunction with massively dilated bladder, ureters, and kidneys.

Clinical Presentation :PE

patient should be warm and relaxed for the examination. Observation should precede the examination. The patient should be placed in the frog-leg position for examination. This is especially useful in obese children with fatty infiltration of the scrotum and when retractility is a concern.

Orchiopexy

operation to bring an undescended testicle into the scrotum -open -laparoscopic (useful to determine sex) -Best at 6-12 months -Prognosis 80-90%

Ectopic Orchidism

testis exit the external ring and get misdirected

Stage 2 Wilms tumor

tumor is completely resected No evidence of tumor at or beyond the margins of resection is noted The tumor extends beyond the kidney (penetration of renal capsule, involvement of renal sinus

Stage 1 Wilms tumor

tumor is limited to kidney and is completely resected The renal capsule is intact The tumor was not ruptured or biopsied prior to removal The vessels of the renal sinus are not involved No evidence of tumor is present at or beyond the margins of resection

Fertility with Cryptorchidism

~ 6% of infertile men have a history of orchiopexy or untreated cryptorchidism Greater with bilateral cryptorchidism The paternity rate for patients with bilateral vs. unilateral is around 60% and 90% Spermatogram (concentration and motility