4 - peds oncology Flashcards
% wilms bilateral?
5%
MCDK is a risk factor for what? and caveat
wilms tumor - would have to do 2,000 prophylactic nx for one prevention
what is WT1 gene
deletion of 11p13
what is WT2 gene
loss of heterozygosity of 11p15
non WT gene abnormality seen in wilms and sig
1p and 16q loss of heterozygosity - inc risk of death/ relapse
names of 3 genetic syndromes assd w wilms
WAGR, denys drash, beckwith wiedemann
what is WAGR
wilms, aniridia, genital abnormalities, MR
gene for WAGR
WT1
What is denys drash
male pseudohermaphroditism, renal masangial scleosis (renal failure), Wilms
gene for denys drash
WT1
what is beckwith Wiedmann
macroglossia, hemihypertrophy
gene for beckwith wiedman
WT2
beckith wiedman % risk of wilms
4-10%
what is classic triphasic histology in wilms
(epithelial, blastemal, stromal)
difference btw favorable and unfavorable wilms histology
favorable has triphasic histology (epithelial, blastemal, stromal). Unfavorable - anaplasia
significance of unfavorable wilms histology
chemo resistance and 50% death
intralobar vs perilobar nephrogenic rests assd with
INTRALOBAR - early in development. Assd w/ WAGR, denys drach. PERILOBAR - late in development, beckwith weidman syndrome and hemihypertrophy
what is nephroblastomatosis
clusters of persistent nephrogenic blastemal cells - histologically identical to wilms tumor
significance of nephroblastomatosis
high risk of wilms, esp bilateral wilms
important part of wilms presentation
kids look healthy
2 most common complication of surgery for wilms
bowel obstruciton and hemorrhage
% caval extension in wilms
4%
long term complication of doxorubicin
CHF at 20 yrs in 20%
most imp outcomes based on (2)
histopathology, tumor stage
wilms tumor staging called
NTWS (nitwit’s)
NTWS wilms stages
stage 1: confined, total resection. Stage 2: outside capsule, total resection. Stage 3: incomplete resecton or biopsy, any spill, + LN. Stage 4: hematogenous spread. Stage 5: bilateral tumors
tumor spillage increases recurrence by x?
6x
UNILATERAL wilms surgery caveats - 3
- transperitoneal nx, 2. don’t need to explore contralateral kidney (ct’s are better now), 3. selective LN sampling, not RPLND
UNILATERAL wilms recurrence RF’s - 4
tumor spillage, unfavorable histology, incomplete resection, absence of LN sampling
BILATERAL wilms surgery caveats
no open bx, just do upfront chemo for tumor shrinkage and pnx.
BILATERAL wilms Chemo mgmt
if response - do pnx. If NO response - bilateral open biopsy. At 2nd look PNX if 2/3 kidney can be preseerved. do NX if unfavorable histology or chemo failure
who gets neoadjuvant chemo in wilms - 4
bilateral, vascular invasion, unresectable tumor, solitary kidney
only group not getting radiation in NWTS protocol
stage 1 or 2 favorable or unfavorbale histology
late chemo effects in wilms tumor (4)
infertility, hypogonadism, 2nd malignancy, CHF (doxorubicin)
most common renal tumor of infancy
mesoblastic nephroma
mesoblastic nephroma tx
nx is curative
clear cell sarcoma - %, location of mets, and mgmt
3% kids renal tumors, bone mets common, multimodal tx needed
mesoblastic nephroma spec chemo
doxorubicin
rhabdoid renal tumors - %, location of mets, features
2% kids renal tumors, ** brain mets common**, very bad
why are rhabdoid renal masses so bad
chemo resistant, advanced stage, high mortality
kids RCC - when, subtype, incidence
most commin 2nd decade, papillary most common, 5% kids
neuroblastoma - incidence
most comm extracranial solid tumor in kids,
are mets common in neuroblastoma
yes - 50% with mets
where do mets present in neuroblastoma
presents anywhere along symp chain (75% retroperitoneum)
neuroblastoma origin
neural crest, like pheo
neuroblastoma genetics
n-myc amplification in 20% and poor prognostic marker
neuroblastoma inheritance
autosomal dominant
neuroblastoma signs
racoon eyes (periorbital mass), sick appearing, anemia (bm mets), blueberry muffin spots on trunk, Opsoclonus-Myoclonus
neuroblastoma workup
urine catecholamine (VMA, HVA) in upto 90%, BM bx
positive prognostic markers for neuroblastoma - 3
BETTER prognosis: age < 1 (best prognosis), nonadrenal origin, tumor stage.
worse prognostic markers for neuroblastoma - 2
WORSE: N-MYC amplification, elevated serum ferritin
neuroblastoma staging - 5
1 - localized tumor, 2 - unilteral tumor w gross total resection and neg LN. 2b - stage 2 w/ ipsilateral +LN only. 3 - tumor crosses midline OR + contralat LN. 4 - distant LN + or mets to BM, bone, or liver
2 good prognostic signs in neuroblastoma
adrenal tumor origin and those < 1 yo
neuroblastoma stage 4s location of mets
mets to liver, skin, or BM, but NOT cortical bone
neuroblastoma stage 4s survival and caveat
90% survival, ** may spontaneously regress**
low risk neuroblastoma staging
stage 1, 2, or 4s
low risk genetics/ histology - neuroblastoma - 3
N-MYC neg, no diploidy, favorable histology
low risk tx and survival - neuroblastoma
only surg, 95% survival
intermediate risk - staging - neuroblastoma (4)
stage 3 and 4, or 4s if symptomatic AND unfavorable histology
intermediate risk - genetics and age - neuroblastoma
N-MYC neg, < 18 mo old
intermediate risk - tx - neuroblastoma
surg + chemo
intermediate risk - survival- neuroblastoma
90%
high risk - staging/ genetics - neuroblastoma
all stages if N-MYC +
high risk - tx and survival - neuroblastoma
chemo + surg +/- rad. Survival - 20-40%
rhabdomyosarcoma - how common
most comm soft tissue sarcoma < 15 yo, 25% GU tract
rhabomyosarcoma origin
mesenchyma
RMS gene
2q37 locus
RMS - presentation age
bimodal - < 10yo and late adolescence
RMS assd w/ what other syndrome?
neurofibromatosis
RMS path subtypes - 3 - and significance
embryonal and botryoid (grapes) - younger pts and better prognosis. alveolar
RMS - tx optons
surgery is diagnostic. Chemo is mainstay. Radiation is controversial b/c long term effects
RMS - tx goal
organ preservation
RMS chemo agents - 3
VAC - vincristine, actinomycin D, cyclophosphamide
RMS - how to do bx
cold cup
RMS presenting in retention
do not place SPT (seeding). Foley until tumor shrinkage w chemo
RMS - how to evaluate residual disease
PET scan differentiates fibrosis from tumor. Residual disease is RF for local recurrence.
paratesticular RMS - mgmt - 3
all get orchiectomy (as opposed to just bx) then chemo. +/- RPLND
paratesticular RMS - who gets RPLND
kids > 10 yo w neg LN on CT should get ipsilateral RPLND prior to chemo. If + LN - chemo +/- rplnd
peds testis tumors - distribution
bimodal - < 2 yo and young adulthood
most comm testicular tumor in kids
teratoma
yolk sac tumor workup
ct CHEST, abdomen and pelvis
tumor markers in kids
AFP only, no HCG as no pediatric tumors make this
what testicular tumors do kids NOT get - 3
embryonal, choriocarcinoma, seminoma
AFP and infants
elevated - normal by 6 months
peds tumor with elev AFP
90% yolk sack
who gets orchiectomy automatically when testicular mass present in infant
> 6 mo and elev AFP
who gets testis sparing
most pre-pubertal.
how to do testis sparing
Clamp vessels, frozen section of bx. Remove tumor alone if benign
risk of leaving testis - pre vs post pubertal
CIS present in most POST-pubertal, rare in PRE-pubertal (1 case).
yolk sac adjuvant tx - stage 1, mets, postchemo mass
stage 1 - observation. Mets/rec - chemo. RPLND if postchemo mass
AFP t1/2
5 days
AFP caveat in babies
remains elevated for 6-9 months postpartum
leydig cell tumor triad
precocious puberty, testis mass, elevated serum testosterone and urinary 17-ketosteroids
leydig cell tumor labs
high testosterone, low-nl gonadotropins
leydig tumor mgmt
testis sparing sx if possible
sertoli cell - symptoms
usu hormonally inactive, but can see gynecomastia
sertoli cell - tx
orchiectomy. r/o mets if aggressive histology. Benign tumor
large cell calcifying sertoli cell tumors - who gets this? - 2
1/3 syndromic - putz-jeghers, carney’s synd
large cell calcifying sertoli cell tumors - mgmt
benign - orchiectomy
juvenile granulosa cell tumors - age
1st yr of life
juvenile granulosa cell tumors - genetics
y chr abnormalities
juvenile granulosa cell tumors - mgmt
benign, rare, testis sparing
gonadoblastoma - genetics
dysgenetic gonad WITH y-chromosome
what is testicle like in pre-gonadoblastoma patients
streak, dysgenetic, indeterminate
gonadoblastoma - contents
have germ cell + stromal elements
gonadoblastoma - mgmt
10% malig after puberty. Remove early while benign
why does dysgerminoma (gonadoblastoma) need to be treated before puberty
germ cell elements outgrow stromal components after puberty –> dysgerminoma develops
what happens to gonadoblastoma after puberty
dysgerminoma (seminoma)
undescended testis and testis tumors - incidence
4-6x increased risk
undescended testis and its position
higher up, the higher the likelyhood of malignancy
undescended testis and tumor type
seminoma before ox, NSGCT after ox
undescended testis and orchiopexy
orchidopexy BEFORE puberty decreases ca risk
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FIG. 11.1 Magnetic resonance imaging (MRI) before and after chemotherapy showing marked reduction in size of right suprarenal neuroblastoma. (A) Before chemotherapy. (B) After chemotherapy.
What is the most common symptom of pediatric adrenal tumors?
A) Palpable abdominal mass
B) Chest pain
C) Headache
D) Joint pain
A) Palpable abdominal mass
Explanation: The most common symptom of pediatric adrenal tumors is a palpable abdominal mass. Other symptoms may include pain or focal symptoms from metastatic disease, incidental finding from imaging, hypertension, and symptoms of catecholamine excess.
What lab test is important for diagnosing neuroblastoma?
A) Complete metabolic profile
B) Complete blood count
C) Urinary levels of metabolites of catecholamines
D) Liver function tests
C) Urinary levels of metabolites of catecholamines
Explanation: Urinary levels of metabolites of catecholamines, vanillylmandelic acid (VMA) and homovanillic acid (HVA), are important for the diagnosis of neuroblastoma.
What imaging is generally done after an abdominal mass is found in a pediatric patient?
A) Chest x-ray
B) Abdominal ultrasound
C) Magnetic resonance imaging (MRI)
D) Bone scan
B) Abdominal ultrasound
Explanation: Abdominal ultrasound is generally done to guide additional cross-sectional imaging after an abdominal mass is found in a pediatric patient.
What is the classic finding for distinguishing a pediatric abdominal mass as neuroblastoma or nephroblastoma?
A) Presence of calcifications
B) Location of the mass
C) Size of the mass
D) Shape of the mass
A) Presence of calcifications
Explanation: The classic finding for distinguishing a pediatric abdominal mass as neuroblastoma or nephroblastoma is whether it crosses midline or if it has calcifications. Classically, but not always, neuroblastoma crosses the midline and may have calcifications while nephroblastoma does not generally cross midline or have calcifications.
What is the prognosis for low-risk neuroblastoma patients?
A) >95% 5-year overall survival
B) 70%–90% 5-year overall survival
C) 20%–40% 5-year overall survival
D) <5% 5-year overall survival
A) >95% 5-year overall survival
Explanation: The prognosis for neuroblastoma patients is highly dependent on risk status, which combines pathologic features, stage, and patient age. Low risk has a >95% 5-year overall survival (OS).
What are the symptoms of pediatric adrenal tumors and how is it diagnosed?
What are the symptoms of pediatric adrenal tumors and how is it diagnosed?
Pediatric adrenal tumors may present with a variety of symptoms, including a palpable abdominal mass, pain or focal symptoms from metastatic disease, incidental finding from imaging, hypertension, symptoms of catecholamine excess (tachycardia, anxiety, headaches, seizures), opsoclonus-myoclonus, and urinary retention.
To diagnose pediatric adrenal tumors, urinary levels of metabolites of catecholamines, vanillylmandelic acid (VMA) and homovanillic acid (HVA), and plasma free metanephrines are important. A complete metabolic profile and a complete blood count (CBC) should also be checked. Abdominal ultrasound can guide additional cross-sectional imaging. If an abdominal mass is found, the next step is generally a computed tomography (CT) of the chest, abdomen, and pelvis.
What is neuroblastoma and how is it diagnosed?
Neuroblastoma is a type of pediatric urologic oncology that requires multimodal treatment with surgery, chemotherapy, and radiation. The first step in patient management is stabilization, as infants with widely metastatic neuroblastoma may be very ill. In general, the next step for a suspected neuroblastoma is biopsy. However, this should only be done after a multidisciplinary discussion with pediatric oncology. Subsequent steps with chemotherapy or surgical resection may require a nuanced analysis of patient and tumor factors.
Symptoms of neuroblastoma may include a palpable abdominal mass, pain or focal symptoms from metastatic disease, incidental finding from imaging, hypertension, and symptoms of catecholamine excess (tachycardia, anxiety, headaches, seizures), as well as opsoclonus-myoclonus and urinary retention.
To diagnose neuroblastoma, urinary levels of metabolites of catecholamines, vanillylmandelic acid (VMA) and homovanillic acid (HVA), are important. Abdominal ultrasound can guide additional cross-sectional imaging. If an abdominal mass is found, the next step is generally a computed tomography (CT) of the chest, abdomen, and pelvis. Further specialized imaging such as metaiodobenzylguanidine (MIBG) or positron emission tomography (PET) may be warranted. The classic finding for distinguishing a pediatric abdominal mass as neuroblastoma or nephroblastoma is whether it crosses midline or if it has calcifications.
What is the treatment for neuroblastoma and what is the prognosis?
Neuroblastoma generally requires multimodal treatment with surgery, chemotherapy, and radiation. The first step in patient management is stabilization, as infants with widely metastatic neuroblastoma may be very ill. In general, the next step for a suspected neuroblastoma is biopsy. However, this should only be done after a multidisciplinary discussion with pediatric oncology. Subsequent steps with chemotherapy or surgical resection may require a nuanced analysis of patient and tumor factors.
The prognosis for neuroblastoma patients is highly dependent on risk status, which combines pathologic features, stage, and patient age. Low risk has a >95% 5-year overall survival (OS). Intermediate risk has a 70%–90% 5-year OS, and high risk has a 20%–40% 5-year OS.
What should be considered during the history and examination for a pediatric patient with an abdominal mass?
During the history and examination for a pediatric patient with an abdominal mass, the patient/family should be asked about the duration and acuity of symptoms. Was there any preceding event? The age of the patient is important in prognosis.
Thorough examination should assess for any abdominal or pelvic mass as well as any localized areas of tenderness or neurologic deficit. Check for periorbital ecchymosis and any signs of opsoclonus-myoclonus. It is also important to assess whether the child appears overall well or ill appearing, as children with neuroblastoma may be ill appearing or have unstable vital signs (tachycardic, hypotensive, tachypneic) at the time of diagnosis.
What is the difference between neuroblastoma and nephroblastoma?
Neuroblastoma and nephroblastoma are both types of pediatric urologic oncology that can present with a palpable abdominal mass in children, but they are different types of tumors.
Neuroblastoma arises from the neural crest cells, which are embryonic cells that form the sympathetic nervous system, while nephroblastoma (also known as Wilms tumor) arises from the embryonic kidney.
The classic finding for distinguishing a pediatric abdominal mass as neuroblastoma or nephroblastoma is whether it crosses midline or if it has calcifications. Classically, but not always, neuroblastoma crosses the midline and may have calcifications while nephroblastoma does not generally cross midline or have calcifications.
In addition, the treatment and prognosis for neuroblastoma and nephroblastoma are different. Neuroblastoma generally requires multimodal treatment with surgery, chemotherapy, and radiation. The prognosis for neuroblastoma patients is highly dependent on risk status, which combines pathologic features, stage, and patient age. Low risk has a >95% 5-year overall survival (OS), intermediate risk has a 70%–90% 5-year OS, and high risk has a 20%–40% 5-year OS.
Nephroblastoma is generally treated with a combination of surgery and chemotherapy. The prognosis for nephroblastoma patients is also dependent on factors such as age and tumor stage, but the overall survival rate is high, with over 90% of patients surviving at least 5 years.
Table 11.1
Hereditary Syndromes Associated with Pheochromocytoma
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FIG. 11.2 Magnetic resonance imaging (MRI) T2 of left adrenal pheochromocytoma: axial (A) and coronal (B).
Which of the following is a common symptom of pheochromocytoma?
A. Hypotension
B. Tachycardia
C. Pallor
D. Fatigue
B. Tachycardia
Explanation: Patients with pheochromocytoma typically present with hypertension, attacks of hypertension/anxiety, and symptoms of catecholamine excess such as tachycardia, anxiety, headaches, seizures, pallor, tremor, and perspiration.
What is the recommended first step in the management of pheochromocytoma prior to surgery?
A. Beta blockade
B. Laparoscopic resection
C. Alpha blockade
D. Biopsy
C. Alpha blockade
Explanation: Prior to surgery, management with endocrinology for catecholamine blockade is necessary. Alpha blockade (phenoxybenzamine or prazosin) should be done first. Beta blockade is only indicated if persistent arrhythmia or tachycardia or hypertension.
What is the recommended surgical approach for tumors <8 cm in pheochromocytoma?
A. Open resection
B. Robotic resection
C. Laparoscopic resection
D. Endoscopic resection
C. Laparoscopic resection
Explanation: After a 10- to 14-day blockade, surgery can be done with laparoscopic resection preferred for tumors <8 cm. Early ligation of the adrenal vein will aid in patient stability. Close collaboration with anesthesia is necessary as patients can be very hemodynamically labile during surgery.
What are the common symptoms of pheochromocytoma, and why is a personal or family history of genetic predispositions important in the diagnosis of this condition?
Patients with pheochromocytoma typically present with hypertension, attacks of hypertension/anxiety, and symptoms of catecholamine excess such as tachycardia, anxiety, headaches, seizures, pallor, tremor, and perspiration. A personal or family history of genetic predispositions such as von Hippel Lindau, multiple endocrine neoplasia, neurofibromatosis, or succinate dehydrogenase mutations is important in the diagnosis of this condition because these conditions are associated with a higher risk of developing pheochromocytoma.
What is the recommended diagnostic workup for pheochromocytoma, and what is the role of plasma free metanephrines in the diagnosis of this condition?
The recommended diagnostic workup for pheochromocytoma includes a thorough investigation of symptoms and a personal or family history of genetic predispositions, as well as vital signs (heart rate, blood pressure), a complete metabolic profile, and a CBC. If plasma free metanephrines are elevated, the next step is generally a CT or MRI of the abdomen and pelvis. Further specialized imaging such as nuclear medicine imaging (MIBG, Dotatate, or PET) may be warranted. Plasma free metanephrines are critical for diagnosis as they are highly sensitive and specific for pheochromocytoma.
What is the recommended management of pheochromocytoma prior to surgery, and what is the preferred surgical approach for tumors <8 cm?
Prior to surgery, management with endocrinology for catecholamine blockade is necessary. Alpha blockade (phenoxybenzamine or prazosin) should be done first. Beta blockade is only indicated if persistent arrhythmia or tachycardia or hypertension. Increased fluid
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FIG. 11.3 Unilateral pediatric renal mass algorithm. AWT, Anaplastic Wilms Tumor; CAP, Chest, Abdomen, Pelvis; CMN, Congenital Mesoblastic Nephroma; CT, Computed Tomography; FH, Favorable Histology; LN, Lymph Node; RCC, Renal Cell Carcinoma; VLR, Very Low Risk; WT, Wilms Tumor; XRT, Radiation Therapy.
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FIG. 11.4 Bilateral pediatric renal mass algorithm. AP, Abdomen Pelvis; C, Chest; CAP, Chest, Abdomen, Pelvis; CT, Computed Tomography; LN, Lymph Node; MRI, Magnetic Resonance Imaging; NSS, Nephron Sparing Surgery; RN, Radical Nephrectomy US; Ultrasound; VAD, Vincristine, Actinomycin, Doxorubicin; WT, Wilms Tumor.
Table 11.2
Pediatric Renal Tumor Overview
Table 11.3
Hereditary Syndromes Associated with Wilms Tumor
FIG. 11.5 (A) Computed tomography of a Wilms tumor that was pretreated with chemotherapy. (B) After 6 weeks of chemotherapy, the tumor is much smaller in size.
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FIG. 11.6 Patient with bilateral tumors who was treated with chemotherapy. (A) Computed tomography (CT) before treatment. (B) CT after 12 weeks of chemotherapy, revealing only minimal decrease in the size of the tumors. Bilateral partial nephrectomies were performed, revealing mature tumor elements with rhabdomyoblastic differentiation.
Image
FIG. 11.7 Postoperative image from patient shown in Fig. 11.6. Demonstrates that the kidneys have pretty near normal volume after resection of the bilateral tumors.
What is the most common presenting symptom of Wilms tumor in children?
A. Headache
B. Vomiting
C. Palpable abdominal mass
D. Joint pain
C. Palpable abdominal mass
Explanation: Wilms tumor often presents as a palpable abdominal mass, which can be accompanied by other symptoms such as hematuria, fever, anorexia, weight loss, and constipation.
What laboratory test should be done for a child suspected of having Wilms tumor?
A. Complete blood count
B. Urine analysis
C. Blood glucose test
D. Coagulation profile
D. Coagulation profile
Explanation: Wilms tumor can cause an acquired von Willebrand factor deficiency in 2% of patients, so it is important to assess the coagulation profile in addition to other laboratory tests such as a complete metabolic profile and CBC.
What is the treatment of choice for most patients with a unilateral, nonsyndromic Wilms tumor?
A. Biopsy
B. Chemotherapy
C. Radiation therapy
D. Radical nephrectomy and lymph node sampling
D. Radical nephrectomy and lymph node sampling
Explanation: Surgical intervention is generally the next step for patients with a unilateral, nonsyndromic Wilms tumor. The treatment of choice is radical nephrectomy and lymph node sampling, and biopsy is generally not indicated except in extenuating circumstances.
What is Wilms tumor and what are its symptoms?
Wilms tumor, also known as nephroblastoma, is a type of kidney cancer that primarily affects children. The most common symptom of Wilms tumor is a palpable abdominal mass, which may be accompanied by other symptoms such as hematuria (blood in the urine), fever, anorexia (loss of appetite), weight loss, and constipation.
What should be included in the history and examination of a child suspected of having Wilms tumor?
In addition to assessing the duration and acuity of symptoms, the patient/family should be asked about personal or family history of genetic predispositions, as some conditions such as hemihypertrophy and aniridia are associated with an increased risk of developing Wilms tumor. During examination, the child’s overall appearance should be assessed to determine whether they are well or ill appearing. Thorough examination should assess for any abdominal or pelvic mass and for signs of hereditary predisposition, such as genitourinary anomalies (hypospadias, undescended testis, ambiguous genitalia).
What is von Willebrand disease?
Von Willebrand disease is a genetic bleeding disorder that affects the body’s ability to form blood clots. It is caused by a deficiency or dysfunction of von Willebrand factor, a protein that is important for platelet function and blood clotting. Symptoms of von Willebrand disease can include easy bruising, nosebleeds, prolonged bleeding after injury or surgery, and heavy menstrual bleeding.
What is Factor V Leiden?
Factor V Leiden is also a genetic disorder that affects blood clotting. It is caused by a mutation in the Factor V gene, which results in a form of Factor V that is resistant to inactivation by a protein called activated protein C. This can lead to an increased risk of blood clots, particularly in the veins. Symptoms of Factor V Leiden can include deep vein thrombosis (DVT), pulmonary embolism, and recurrent miscarriage.
What are hemophilia A and B? How are they different from von Willebrand disease?
Hemophilia A and B are bleeding disorders caused by deficiencies in clotting factors VIII and IX, respectively. These factors are important for the formation of blood clots, so deficiencies can result in prolonged bleeding after injury or surgery, as well as spontaneous bleeding in severe cases. Hemophilia A and B are both genetic disorders, with hemophilia A being more common than hemophilia B.
Von Willebrand disease, on the other hand, is caused by a deficiency or dysfunction of von Willebrand factor, a protein that is important for platelet function and blood clotting. While von Willebrand disease can result in similar symptoms as hemophilia A and B, such as easy bruising and prolonged bleeding after injury, the bleeding tendencies in von Willebrand disease are generally milder and more variable.
In terms of treatment, hemophilia A and B are typically managed with clotting factor replacement therapy, while von Willebrand disease may be treated with desmopressin or von Willebrand factor replacement therapy. Hemophilia A and B are also more commonly associated with joint damage and other complications due to the frequent bleeding episodes.
Table 11.4
Hereditary Syndromes Associated with Renal Cell Carcinoma
What are the common symptoms of renal cell carcinoma in children?
A. Hemoptysis and chest pain
B. Headache and dizziness
C. Palpable abdominal mass and hematuria
D. Joint pain and fever
C
Explanation: The common symptoms of renal cell carcinoma in children include palpable abdominal mass and hematuria, among others.
Which of the following imaging modalities can help guide additional cross-sectional imaging in children with renal cell carcinoma?
A. X-ray
B. CT scan
C. MRI
D. PET scan
B
Explanation: Abdominal ultrasound can help guide additional cross-sectional imaging. If an abdominal mass is found, the next step is generally a CT of the chest, abdomen, and pelvis.
What is the treatment of choice for children with a unilateral, non-syndromic tumor?
A. Biopsy
B. Adjuvant therapy
C. Radical nephrectomy with lymph node sampling
D. Partial nephrectomy
C
Explanation: Radical nephrectomy with lymph node sampling is the treatment of choice in most patients with a unilateral, non-syndromic tumor. Biopsy is generally not indicated outside of extenuating circumstances.
What are the common presenting symptoms of renal cell carcinoma in children, and how is it diagnosed?
The common presenting symptoms of renal cell carcinoma in children include a palpable abdominal mass, hematuria, fever, anorexia, weight loss, and constipation. The patient/family should be asked about duration and acuity of symptoms, and about known personal or family history of genetic predispositions. Thorough examination should assess for any abdominal or pelvic mass, and assess for signs of hereditary predisposition. A complete metabolic profile and a CBC should be done. Abdominal ultrasound can help guide additional cross-sectional imaging. If an abdominal mass is found, the next step is generally a CT of the chest, abdomen, and pelvis.
What is the treatment of choice for children with renal cell carcinoma, and what are the prognostic factors?
Radical nephrectomy with lymph node sampling is the treatment of choice in most patients with a unilateral, non-syndromic tumor. Biopsy is generally not indicated outside of extenuating circumstances. Those with bilateral renal tumors or a syndrome-associated unilateral tumor concerning for renal cell carcinoma should be treated with attempted partial nephrectomy. Complete surgical resection is the treatment of choice, and there is no role for adjuvant therapy in nonmetastatic disease. Prognosis is dependent on stage. The majority of renal cell carcinoma in children is translocation type RCC. These generally involve chromosomal translocations in Xp11 (TFE gene). Five-year OS by stage: stages I and II, >90%; stage III, 80%; and stage IV, <25%.
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FIG. 11.8 Magnetic resonance imaging of abdomen and pelvis in boy with bladder-prostate rhabdomyosarcoma.
Which of the following symptoms may be present in a child with bladder or prostate tumors?
A. Nausea
B. Chest pain
C. Hematuria
D. Dizziness
C. Hematuria
Explanation: Hematuria, or blood in the urine, is a common symptom of bladder or prostate tumors in children.
What is the next step in evaluation if a pelvic mass is found in a child?
A. Immediate surgery
B. Biopsy of the primary tumor
C. MRI of the pelvis
D. Complete blood count
B. Biopsy of the primary tumor
Explanation: The next step in evaluation if a pelvic mass is found in a child is to perform a biopsy of the primary tumor, ideally achieved endoscopically.
Which of the following is a major goal of treatment for pediatric urologic oncology?
A. Complete urinary diversion
B. Chemotherapy only
C. Organ preservation
D. Surgery only
C. Organ preservation
Explanation: A major goal of treatment for pediatric urologic oncology is organ preservation and avoiding the morbidity of complete urinary diversion.
What are some potential symptoms of bladder or prostate tumors in children, and what is the significance of these symptoms?
Children with bladder or prostate tumors may present with symptoms such as urinary frequency/urgency, stranguria, hematuria, constipation, palpable abdominal mass, fever, anorexia, and weight loss. These symptoms are significant because they can indicate the presence of a serious condition and should prompt further evaluation and management.
What is the recommended approach to evaluating a child with a pelvic mass, and why is this approach important?
The recommended approach to evaluating a child with a pelvic mass includes assessing for abdominal or pelvic mass, performing a urethral meatus exam, and evaluating for urinary retention. In addition, a complete metabolic profile and a CBC should be obtained, and imaging such as abdominal US and CT of the chest, abdomen, and pelvis may be necessary. This approach is important because it helps to identify the underlying cause of the pelvic mass and guide appropriate treatment.
What are the treatment options for pediatric urologic oncology, and how is the choice of treatment determined?
Treatment options for pediatric urologic oncology may include surgical excision, chemotherapy, and radiation. The choice of treatment is determined based on the ability to fully resect the tumor at diagnosis, the stage and location of the tumor, and the goals of treatment such as organ preservation and avoidance of morbidity. A multidisciplinary discussion with pediatric oncology and radiation oncology is necessary to determine the best course of treatment for each individual patient.
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FIG. 11.9 Botryoid vaginal rhabdomyosarcoma emanating from the introitus of a young girl.
What is a common symptom of gynecologic rhabdomyosarcoma?
a. Headache
b. Chest pain
c. Vaginal bleeding
d. Joint pain
c. Vaginal bleeding
Explanation: Vaginal bleeding is a common symptom of gynecologic rhabdomyosarcoma. Other symptoms include urinary frequency/urgency, stranguria, hematuria, constipation, palpable abdominal mass, fever, anorexia, and weight loss.
What should be assessed during the examination for gynecologic rhabdomyosarcoma?
a. The eyes
b. The ears
c. The abdominal and pelvic area
d. The arms and legs
c. The abdominal and pelvic area
Explanation: During the examination, a thorough assessment should be made for any abdominal or pelvic mass. An exam of the introitus may visualize a prolapsing vaginal mass. Urinary retention should also be evaluated.
What should be done if a pelvic mass is found during imaging?
a. A CT of the chest and abdomen
b. An MRI of the pelvis
c. Both A and B
d. None of the above
c. Both A and B
Explanation: If a pelvic mass is found, the next step is generally a CT of the chest, abdomen, and pelvis. MRI of the pelvis may also be helpful for fine anatomic details.
What is the goal of treatment for gynecologic rhabdomyosarcoma?
a. Complete pelvic exenteration
b. Organ preservation and avoiding morbidity
c. Removal of the primary tumor
d. All of the above
b. Organ preservation and avoiding morbidity
Explanation: The major goals of treatment are organ preservation and avoiding the morbidity of complete pelvic exenteration. Many patients are managed with radiation to preserve the vagina/uterus.
What is the 5-year overall survival rate for gynecologic rhabdomyosarcoma?
a. <50%
b. 50-60%
c. >80%
d. >90%
: c. >80%
Explanation: The 5-year overall survival rate for gynecologic rhabdomyosarcoma is >80%. It is >90% in those younger than 10 years old and 70% in those older than 10 years old.
What are the common symptoms of gynecologic rhabdomyosarcoma and why is it important to ask about personal or family history of genetic predispositions during the history taking process?
The common symptoms of gynecologic rhabdomyosarcoma include vaginal bleeding, urinary frequency/urgency, stranguria, hematuria, constipation, palpable abdominal mass, fever, anorexia, and weight loss. During the history taking process, it is important to ask about personal or family history of genetic predispositions (such as Li-Fraumeni and neurofibromatosis) because some genetic conditions increase the risk for developing certain cancers, including gynecologic rhabdomyosarcoma.
What should be assessed during the examination for gynecologic rhabdomyosarcoma and what labs and imaging tests are recommended for diagnosis and staging?
During the examination, a thorough assessment should be made for any abdominal or pelvic mass. An exam of the introitus may visualize a prolapsing vaginal mass. Urinary retention should also be evaluated. Labs that are recommended include a complete metabolic profile and a CBC. Abdominal US can help guide additional cross-sectional imaging. If a pelvic mass is found,
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FIG. 11.10 Testicular ultrasound of a pure embryonal carcinoma in a 14-year-old male patient.
What are the most common symptoms of Testicular germ cell tumors (GCTs)?
A. Headaches and vision changes
B. Palpable scrotal/testicular mass or swelling, scrotal/testicular pain, dysuria, or focal symptoms from metastatic disease (cough, bone pain, neurologic deficits)
C. Chest pain and shortness of breath
D. None of the above
B
What should be assessed during the examination of a patient with suspected Testicular germ cell tumors (GCTs)?
A. The eyes and ears
B. The nose and throat
C. The scrotum, testes, and paratesticular structures, presence or absence of varicocele, and perform an abdominal and pelvic exam to assess for any abdominal masses
D. None of the above
C
What labs should be checked for a patient with suspected Testicular germ cell tumors (GCTs)?
A. Serum tumor markers include alpha fetoprotein (AFP), beta-human chorionic gonadotropin (bHCG), and lactate dehydrogenase (LDH)
B. Complete metabolic profile and a CBC
C. Both A and B
D. None of the above
C
What is the next step in imaging if a mass is found on US concerning for malignancy?
A. Full staging with CT of the chest, abdomen, and pelvis
B. Biopsy of the mass
C. MRI of the scrotum and testes
D. None of the above
A
What is the treatment of choice for prepubertal patients with physiologically normal serum tumor markers?
A. Radical inguinal orchiectomy
B. Active surveillance
C. An inguinal approach to partial orchiectomy (with intraoperative frozen section)
D. None of the above
C
What are the symptoms, history, and examination findings that should raise concern for Testicular and paratesticular tumors in a patient?
Symptoms: Palpable scrotal/testicular mass or swelling, scrotal/testicular pain, dysuria, or focal symptoms from metastatic disease (cough, bone pain, neurologic deficits)
History: Duration and acuity of symptoms, history of cryptorchidism, family history of testicular cancer and genetic syndromes (Klinefelter syndrome, DICER-1, Peutz-Jeghers syndrome, Carney complex, congenital adrenal hyperplasia)
Examination: Evaluate the scrotum, testes, and paratesticular structures and presence or absence of varicocele. Perform an abdominal and pelvic exam to assess for any abdominal masses. Assess for any signs of precocious puberty or gynecomastia.
What labs should be checked for a patient with suspected Testicular germ cell tumors (GCTs), and what do they indicate?
Serum tumor markers should be checked, which include alpha fetoprotein (AFP), beta-human chorionic gonadotropin (bHCG), and lactate dehydrogenase (LDH). Elevated levels of these markers can indicate the presence of a tumor, and can also be used to monitor treatment response.
What imaging modalities can be used to diagnose and stage Testicular and paratesticular tumors, and what are some characteristic findings on these imaging studies?
Scrotal US can localize the tumor to the testis or paratesticular structures. CT of the chest, abdomen, and pelvis can be used to stage the tumor. Germ cell tumors may be associated with concomitant microlithiasis
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FIG. 11.11 Testicular ultrasound of a Leydig cell tumor in a 15-year-old male patient.
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FIG. 11.12 (A) Leydig cell tumor demonstrating characteristic brown appearance related to abundant lipofuscin pigmentation. (B) Reinke crystals. Source: (A, Courtesy Fernando Ferrer, MD; B, from http://www.webpathology.com.)
What are the most common symptoms of testicular and paratesticular tumors?
a. Fever and chills
b. Joint pain
c. Palpable scrotal/testicular mass or swelling, scrotal/testicular pain, dysuria, or focal symptoms from metastatic disease
d. Chest pain and shortness of breath
c
What is an important factor to consider in the history of a patient with testicular and paratesticular tumors?
a. History of allergies
b. History of heart disease
c. History of diabetes
d. History of cryptorchidism, family history of testicular cancer, and genetic syndromes
d
What should be evaluated during the examination of a patient with testicular and paratesticular tumors?
a. Evaluation of the eyes
b. Evaluation of the ears
c. Evaluation of the throat
d. Evaluation of the scrotum, testes and paratesticular structures, and varicocele
d
What should be checked in the labs of a patient with concern for a testicular stromal tumor?
a. Blood glucose level
b. Cholesterol level
c. Serum tumor markers such as inhibin-B, testosterone, and estradiol
d. Vitamin D level
c
What is the next step in imaging if pathology is concerning for malignancy in a patient with testicular and paratesticular tumors?
a. Magnetic Resonance Imaging (MRI)
b. X-ray
c. Computed Tomography (CT) of the chest, abdomen, and pelvis
d. Ultrasound of the abdomen
c
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FIG. 11.13 Testicular ultrasound of a paratesticular rhabdomyosarcoma in a 2-year-old male patient. (Yellow star indicates the large paratesticular mass. Red arrow indicates the normal testicle adjacent to the mass.
What is a common symptom of paratesticular rhabdomyosarcoma?
A. Nasal congestion
B. Headache
C. Focal symptoms from metastatic disease
D. Heart palpitations
C
Which of the following should be evaluated during a physical examination of a patient suspected to have paratesticular rhabdomyosarcoma?
A. Ears and nose
B. Abdomen and pelvis
C. Arms and legs
D. Neck and shoulders
B
Which serum tumor markers should be drawn if there is concern for a testicular stromal tumor?
A. AFP and bHCG
B. Inhibin-B, testosterone, and estradiol
C. PSA and LDH
D. CA 19-9 and CEA
B
What is the next step in imaging if a pathologic is concerning for malignancy in a patient with a scrotal mass?
A. MRI of the scrotum
B. CT of the chest, abdomen, and pelvis
C. X-ray of the chest
D. PET scan of the chest
B
What is the initial treatment for paratesticular rhabdomyosarcoma?
A. Radiation therapy
B. Chemotherapy
C. Inguinal exploration with excisional biopsy
D. Radical, inguinal orchiectomy
D
What are the symptoms of paratesticular rhabdomyosarcoma?
Symptoms of paratesticular rhabdomyosarcoma include a palpable scrotal/testicular mass or swelling, scrotal/testicular pain, dysuria, or focal symptoms from metastatic disease (cough, bone pain, neurologic deficits).
What should be evaluated during a physical examination of a patient suspected to have paratesticular rhabdomyosarcoma?
During a physical examination, the scrotum, testes, and paratesticular structures should be evaluated, as well as the varicocele. An abdominal and pelvic exam should also be performed to assess for any abdominal masses. Signs of precocious puberty or gynecomastia should also be evaluated.
What should be checked in labs for a patient suspected to have a testicular stromal tumor?
If there is concern for a testicular stromal tumor, serum tumor markers such as inhibin-B, testosterone, and estradiol should be drawn. To help distinguish from a germ cell tumor, AFP, bHCG, and LDH are recommended. A complete metabolic profile and a CBC should also be checked.
What is the next step in imaging if a pathologic is concerning for malignancy in a patient with a scrotal mass?
Scrotal US can localize the tumor to the testis or paratesticular structures and may also evaluate the contralateral testis. If pathologic is concerning for malignancy, the next step in imaging is full staging with CT of the chest, abdomen, and pelvis. Staging for rhabdomyosarcoma will also include a PET scan.
What is the treatment for paratesticular rhabdomyosarcoma?
Paratesticular rhabdomyosarcoma is initially treated with a radical, inguinal orchiectomy. All patients receive adjuvant chemotherapy. Boys younger than 10 years old with no metastatic disease on imaging do not need a staging retroperitoneal lymph node dissection prior to adjuvant chemotherapy. However, those who are 10 years of age or
