Nephroblastoma and Renal Tumors Quiz

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Questions and Answers

What is a common sign or symptom of nephroblastoma?

Weight gain

Hematuria (correct)

Coughing

Skin rash

Which syndrome is characterized by aniridia, genital abnormalities, and mental retardation?

Denys-Drash Syndrome

WAGR Syndrome (correct)

Bardet-Biedl Syndrome

Beckwith-Wiedemann Syndrome

What type of cells make up the blastemal component of nephroblastoma?

Melanocytes

Undifferentiated cells (correct)

Neuroectodermal cells

Mature adipocytes

Nephroblastoma is primarily classified under which category of renal tumors?

Embryonal neoplasms Signup and view all the answers

What is the prognosis for patients with nephroblastoma in terms of long-term survival?

90% Signup and view all the answers

What is the most common site for metastasis in cancer cases?

Lungs Signup and view all the answers

Which histological characteristic is most associated with clear cell renal cell carcinoma (RCC)?

Nests of clear cells with glycogen Signup and view all the answers

What marker is typically elevated in patients with bone metastasis?

Alkaline phosphatase Signup and view all the answers

What age group is most commonly associated with nephroblastoma (Wilms tumor)?

Children aged 3 to 4 years Signup and view all the answers

What is a typical clinical presentation of nephroblastoma?

Abdominal mass without symptoms Signup and view all the answers

Which of the following is NOT a negative stain in clear cell renal cell carcinoma?

PAX2 Signup and view all the answers

What genetic alteration is primarily implicated in the tumorigenesis of nephroblastoma?

WT1 gene deletion Signup and view all the answers

What is a common histological feature of renal oncocytoma?

Arrangement of oncocytes in nests Signup and view all the answers

Which stain would likely show a positive result in diagnosing renal oncocytoma?

PAX8 Signup and view all the answers

What histological feature would suggest the presence of renal cell carcinoma?

Clear cytoplasm indicating glycogen content Signup and view all the answers

What is the most significant risk factor for renal cell carcinoma?

Cigarette smoking Signup and view all the answers

Which of the following conditions is NOT commonly associated with renal cell carcinoma?

Pulmonary fibrosis Signup and view all the answers

At what age demographic do renal cell carcinomas most frequently occur?

In individuals aged 60-70 Signup and view all the answers

What percentage of renal cancers is represented by renal cell carcinoma in adults?

85% to 90% Signup and view all the answers

What is one of the classic clinical presentations of renal cell carcinoma?

Flank lump Signup and view all the answers

Which of the following symptoms is considered the most reliable indicator of renal cell carcinoma?

Hematuria Signup and view all the answers

Which renal tumor is primarily found in children?

Nephroblastoma (Wilms tumor) Signup and view all the answers

What is the primary characteristic of renal oncocytomas at the molecular level?

Rearrangements of CCDN1 Signup and view all the answers

What histological feature is commonly associated with renal oncocytomas?

Presence of intercalated cells Signup and view all the answers

What is the typical gender ratio for patients with renal oncocytoma?

2:1 Signup and view all the answers

Which imaging method is best for identifying a central scar in renal oncocytoma?

CT or MRI Signup and view all the answers

Which chromosome losses are commonly found in oncocytomas with aneuploidy?

Chromosome 1 and Y Signup and view all the answers

Which of the following is NOT typically a clinical feature of renal oncocytoma?

Weight loss Signup and view all the answers

What is the appearance of renal oncocytoma upon gross pathological examination?

Homogeneous cortical tumor with a mahogany-brown cut surface Signup and view all the answers

Study Notes

Renal Tumors: Overview

Renal tumors are a diverse group of diseases
The 2022 WHO classification of urinary and male genital tumors (5th edition) provides updated diagnostic criteria, molecular correlates, and nomenclature.

Kidney Tumors: WHO Classification (2022)

Renal cell tumors:
- Clear cell renal tumors
- Papillary renal tumors
- Oncocytic and chromophobe renal tumors
- Collecting duct tumors
- Other renal tumors
- Molecularly defined renal carcinomas
Metanephric tumors
Mixed epithelial and stromal renal tumors
Renal mesenchymal tumors
Embryonal neoplasms of the kidney
Miscellaneous renal tumors

Renal Oncocytoma: Classification and Features

Classification: Oncocytic and chromophobe renal tumors,
Oncocytoma: A subcategory of oncocytic and chromophobe renal tumors
Clinical Features:
- 5-9% of all renal tumors
- Male to female ratio = 2:1
- Often asymptomatic, though flank pain and hematuria can occur
- CT or MRI may reveal a central scar

Renal Oncocytoma: Pathophysiology

Originates from renal intercalated cells
Filled with respiration-defective mitochondria
Often associated with mitochondrial mutations
These mutations can lead to metabolic checkpoint activation, autophagy impact, and mitochondrial buildup
Some have hybrid morphologies
Potential for multiple tumors
Some connected to syndromic conditions
Two main molecular variants:
- Rearrangements of CCDN1 (11q13 translocations)
- Aneuploidy (mainly involving chromosome Y and 1)
Aneuploidy, combined with additional p53 mutations, may be associated with progression to eosinophilic chromophobe renal cell carcinoma.

Renal Oncocytoma: Gross Pathology

Well-circumscribed, homogeneous cortical tumor
Mahogany-brown cut surface
Often displays a central, irregular fibrous scar
Bilateral or multicentric in 2-3% of cases

Renal Oncocytoma: Microscopic Examination

Well-circumscribed lesion
Usually no pseudocapsule
Composed of large eosinophilic cells (oncocytes) with dense granular cytoplasm
Nuclei are round, regular, and have even chromatin with conspicuous nucleoli
Cells are arranged in nests separated by edematous and hyalinized fibrous stroma

Renal Oncocytoma: Immunohistochemistry

Positive stains: CD117/KIT, E-cadherin, S100A1, PAX8
- Some subtypes of Low molecular weight keratin (CAM 5.2) and pancytokeratin
Negative stains: CK7, AMACR, CAIX, Vimentin, HMB45, melanA, CK20, Hale colloidal iron

Renal Cell Carcinoma: Epidemiology

Represents 1-3% of visceral cancers and 85% of renal malignancies in adults
Most common in older adults (sixth and seventh decade)
More prevalent in men (ratio of 2:1)
Primarily sporadic; however, familial occurrences are possible.

Renal Cell Carcinoma: Risk Factors

Cigarette smoking
Obesity (especially in women)
Hypertension
Unopposed estrogen therapy
Exposure to asbestos, petroleum products, and heavy metals
Acquired polycystic kidney disease secondary to dialysis

Renal Cell Carcinoma: Clinical Presentation

Often asymptomatic initially
Possible silent presentation
Common clinical presentation can be triad of Hematuria, Flank pain, Flank mass
Hematuria is the most reliable sign but can be intermittent or microscopic, masking the tumor's presence until it's quite large.

Renal Cell Carcinoma: Paraneoplastic Syndromes

Renal cell carcinoma can produce systemic symptoms unrelated to the kidney called paraneoplastic syndromes, arising from abnormal hormone production.
- Polycythemia (elevated hematocrit - > 60%)
- Hypercalcemia (elevated levels of parathyroid hormone-like hormone)
- Hypertension
- Hepatic dysfunction
- Feminization or masculinization (due to elevated gonadotropins)
- Cushing syndrome
- Leukemoid reactions
- Amyloidosis

Renal Cell Carcinoma: Metastasis

Often metastasizes widely before causing local symptoms
Radiologic evidence of metastases is present in about 25% of patients at the time of diagnosis
Common metastatic sites include the lungs, bones, regional lymph nodes, liver, adrenals, and brain

Renal Cell Tumors: Clear Cell Renal Cell Carcinoma

The most common type of renal cell carcinoma (70-80% of all renal cell carcinomas)
Gross Pathology:
- Solitary cortical mass
- Bilaterality and multifocality are more common in familial cases.
- Well-circumscribed, lobulated, golden-yellow cut surface
- Cystic change, hemorrhage, necrosis, and calcification can be present

Clear Cell Renal Cell Carcinoma: Histopathology

Nests of clear cells are dispersed by a delicate vascular network

Clear Cell Renal Cell Carcinoma: More Histology and Immunohistochemistry

Positive stains in clear-cell RCC: Include PAX8, PAX2, CAIX (often diffuse or membranous), CD10, vimentin, epithelial markers (AE1/AE3, CAM5.2, EMA)
Negative stains: CK20, Inhibin, melan-A/MART1, calretinin, TTF1, CEA.

Clear Cell Renal Cell Carcinoma: Metastasis

Lung and bone are common sites of metastasis
Bone metastases can lead to osteolytic lesions and pathological bone fractures.
Increased alkaline phosphatase is a marker for bone metastases.

Nephroblastoma (Wilms Tumor): Overview

A malignant embryonal tumor originating from nephrogenic blastema
Resembling the histology of a developing kidney
Primarily a childhood cancer.
Named after the German surgeon Max Wilms.

Nephroblastoma: Epidemiology

Most common in children aged 3 to 4 years
Frequent in African children
Relatively rare in East Asian children
Congenital Wilms tumors are rare.
Slightly more prevalent in females
Majority of Wilms tumors are non-syndromic
10-15% have associated syndromes or congenital anomalies
Familial cases are rare (1-2%)
Relapse occurs in approx. 15% of children, most within 2 years of diagnosis.

Nephroblastoma: Etiology

Thought to develop from persistent metanephric tissue or nephrogenic rests
Related to genetic alterations during embryological development of the genitourinary tract
WT1 gene at chromosome 11p13 is implicated; WT2 gene on chromosome 11p15 is another implicated gene

Nephroblastoma: Clinical Features

Typically presents as an abdominal mass with no immediate symptoms.
Less common presentations include Hematuria, abdominal pain, and hypertension.
Anemia might also occur.
Predisposition syndromes (with varying risk levels)

Nephroblastoma: Associated Syndromes

WAGR syndrome (Aniridia, genital abnormality, mental retardation)
Denys-Drash syndrome (Gonadal dysgenesis, renal abnormality)
Beckwith-Wiedemann syndrome (Enlarged organs, including macro-glossia and hemi-hypertrophy).

Nephroblastoma: Morphology

Gross: Lobulated, tan mass
Microscopic: Tumor is composed of blastemal, epithelial, and stromal elements.
- These three elements are in variable proportions
- Can show differentiation variability (from poor differentiation to well differentiation).
Excellent prognosis with 90% long-term survival.

Additional Information (general):

Size: The sizes of tumors discussed are not specified for each tumor type
Location: The location information of tumors is not always available to precisely discern and pinpoint any one tumor from the slides.
Treatment: No treatment information is provided in the slides
Survival: Survival is detailed for either specific types or classes of tumors

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Description

Test your knowledge on nephroblastoma, its symptoms, genetic implications, and associated syndromes. This quiz will cover essential information about renal tumors, their classifications, and histological characteristics. Ideal for medical students and healthcare professionals.