Syndromic tumors

Question 1

18 yo male, nasal lesion

Answer 1

Association:

FAP/APC gene

IHC/Molecular:

Beta catenin

Question 2

9 mo male w/arrhythmia & heart failure.

Explant shows a 10 cm left ventricular tumor:

Answer 2

Cardiac fibroma

2nd MC cardiac tumor

1/3 <1yo; cellular/mitotically active in young

Gorlin syndrome (PTCH gene)

Question 3

8 mo female w/a murmer

Answer 3

Rhabdomyoma

50-70% regress in fetal/infant period; partial resection only as needed

TSC genes

B/L ventricles, sometimes atria; never valves

Question 4

4 year old child w/pulmonary emboli, right heart failure, fever, anemia & hypergammaglobulinemia

Answer 4

Atrial myxoma

Rare in children (<5%); most sporadic

Carney complex (5%): PRKAR1A (17q22-24)

Arise from endocardium, left atrium near FO

Clinical triad: 1. Outflow obstruction; 2. Emboli; 3. Consitutional symptoms

Question 5

A 5 yo girl has this tumor resected, then presents at 14 yo with bilateral ovarian tumors and hirsutism.

Answer 5

Pleuropulmonary blastoma

Ass’d w/ DICER1 mutations: cystic nephroma, B/L sertoli-leydig cell tumors of ovaries

3 Types:

I: cystic - ddx CPAM; not mixed w/normal lung; can progress to types II-III

II: cystic & solid

III: solid (sarcoma w/heterologous elements)