Somatic mutations and treatments Flashcards
1
Q
MYCN (n-myc) amplification
A
High-risk neuroblastoma
2
Q
Trisomy 8
A
MDS / AML
3
Q
Monosomy 7
A
MDS / AML
4
Q
5q deletion
A
MDS
5
Q
inv(16)
A
AML
6
Q
t(9;22)(q34;q11) (BCR-ABL, Philadelphia chromosome)
A
- CML (and GIST and PH+ ALL)
- Imatinib (Gleevec)
7
Q
Her-2 / Neu / c-ERBB2 amplification
A
- Breast cancer
- Trastuzumab (Herceptin)
8
Q
EML4 - ALK fusion
A
- Non-small cell lung cancer
- Crizotinib
9
Q
BRAF V600E mutation
A
- Malignant melanoma
- If present in CRC then rules out Lynch syndrome
- Vemurafenib
10
Q
JAK2 mutations
A
High-risk childhood ALL and Down syndrome ALL
11
Q
ALK missense mutations and amplification
A
- Neuroblastoma
- Crizotinib
12
Q
EGFR mutations
A
- Lung cancer
- Erlotinib
13
Q
RET missense mutations
A
- Medullary thyroid cancer
- Vandetanib
14
Q
Chromothripsis in medulloblastoma
A
TP53-related medulloblastoma
15
Q
Hypermutated colon cancer
A
POLE-related colon cancer
