Wk 5 Pediatric Oncology

Question 1

What are criteria to do pediatric cancer predisposition testing?

Answer 1

Question 2

What is DICER1?

Answer 2

A tumor suppressor
-encodes RNA endonuclease that modulates microRNAs (miRNAs)
mutation detected by UCSF 500 panel
-

Question 3

What are miRNAs?

Answer 3

involved in post-transcriptional gene expression of many….

Question 4

What cancer is mostly associated w/ DICER1?

Answer 4

Pleuropulmonary blastoma (PPB)
-goal is to detect PPB as early as possible (screening can be done in utero)

Question 5

What is DICER1 Syndrome?

Answer 5

Ovarian sex cord-stromal tumors:
1. Sertoli-Leydig cell tumors (60% germline DICER1)

Question 6

What is DICER1 Syndrome?

Answer 6

Ovarian sex cord-stromal tumors:
1. Sertoli-Leydig cell tumors (60% germline DICER1)

Question 7

What is #1 way of detecting DICER1 probs?

Answer 7

thyroid nodules (multinodular goiter - MNG) - incidence 67% by age 40
-Differentiated thyroid cancer (DTC) - 16-24 fold increase

Question 8

What is Li-Fraumeni Syndrome?

Answer 8

Due to germline TP53 mutation
-early onset of bone and soft tissue sarcomas, brain tumors, adremocortical carcinoma, and other cancers
-lifetime risk almost 100%
-first cancer at young age, likely to develop multiple

Question 9

Li-Fraumeni Testing (LFS) Criteria

Answer 9

Pt w/ adrenocortical carcinoma or choroid plexus tumor