Snapshot for Hemepath

Question 1

Main molecular/cytogenetic things we look at to classify AML

Answer 1

Karyotype

FLT3, NPM1, RUNX1, CEBPA (mainstays)

TP53

IDH1/2, WT1, ASXL1

KIT (in core binding factor AML)

Question 2

Main molecular/cytogenetic things we look at to classify ALL

Answer 2

Karyotype

Pediatrics: FISH for the following -
* t(12;21) ETV6-RUNX1
* t(9;22) BCR-ABL1
* KMT2A rearrangements (chr 11q23)
* iAMP21
* Trisomy 4
* Trisomy 10

B-ALL:
PAX5, JAK1/2, IKZF1, CRLF2

T-ALL:
NOTCH1, FBXW7

Question 3

Limit of detection for Snapshot

Answer 3

If the allele frequency is above 10%, the variant will be detected reliably by Snapshot.

Below this, it may miss the mutation.

Question 4

UMI

Answer 4

Unique molceular indices

The same as barcodes