39. Wilms tumor (nephroblastoma) Flashcards Preview

Renal > 39. Wilms tumor (nephroblastoma) > Flashcards

Flashcards in 39. Wilms tumor (nephroblastoma) Deck (12):
1

MC renal malignancy or early childhood (2-4 age )

Wilms tumor ( nephroblastoma)

2

histology

contains embryogenic glomerular structures

3

mechanism

Loss of function mutation of tumor suppressor genses WT1 or WT2 on CH 11 . MAY be part of several syndrome
1. WAGR complex
2. Denys - Dash
3. Beckwith - Wiedemann

4

WIlms tumor (nephroblastoma) - may be part of several syndromes : ...... ( and mechanism)

1. WAGR complex ( WT1 deletion)
2. Denys - Dash ( WT1 deletion)
3. Beckwith - Wiedemann ( WT2 deletion)

5

1. WAGR complex

Wims
Aniridia
genitourinary malformations
mental retrdation/ intellectual disability

6

2. Denys - Dash

1. Wilms tumor
2. early onset nephrotic syndrome
3. male pseudohermaphroditism

7

3. Beckwith - Wiedemann

1. Wilms
2. macroglosia
3. organomegaly
4. hemihypertrophy ( one side of the body or a part of one side of the body is larger than the other)

8

painless hematuria suggest

bladder cancer

9

• A 3-year-old boy presents with hematuria and a huge, palpable flank mass. He has developmental delay, GU anomalies, and aniridia. Diagnosis?

WAGR complex = Wilms tumor, Aniridia, Genitourinary malformation, and mental-motor Retardation

10

• A boy's glomeruli have neoplastic, embryonic glomeruli and hematuria. Wilms tumor is diagnosed. What genetic abnormality might the boy have?

Deletion of WT1 or WT2 on chromosome 11 (tumor suppressor gene), leading to Wilms tumor (nephroblastoma)

11

• How does Wilms tumor most commonly present?

As a large palpable flank mass and/or hematuria in young children; it may be associated with genetic hemihypertrophy syndromes

12

• A boy with this CT scan finding has macroglossia, organomegaly, and hemihypertrophy. What type of mutation is likely to blame for the mass?

A loss of function mutation (this is likely a Wilms tumor, presenting as part of Beckwith-Wiedemann syndrome)

Decks in Renal Class (61):