Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Mol Path Part 1 2022 > Variants I Need to Learn > Flashcards

Variants I Need to Learn Flashcards

(49 cards)

Start Studying
1
Q

What is the ISCN for the EWSR1-FIL1 fusion seen in Ewing Sarcoma?

A

t(11;22)(q24;12)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the ISCN for the BCR-ABL1 fusion

A

t(9;22)(q34;q11.2)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Whats is the ISCN for the RUNX1-RUNX1T1 fusion?

A

t(8;21)(q22;q22.1)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the ISCN for CBFB-MYH11

A

inv(16)(q13;q22) or t(16;16)(q13;q22)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the ISCN for MLLT3-KMT2A?

A

t(9;11)(p21;q23)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the ISCN for DEK-NUP214?

A

t(6;9)(p23;q34.1)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is the ISCN for KAT6A-CREBBP?

A

t(8;16)(p11;p13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the ISCN for GATA2, MECOM?

A

inv(3)(q21;q26) or t(3;3)(q21;q26)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the ISCN for the IGH-BCL2 rearrangement seen in 90% of follicular lymphomas?

A

t(14;18)(q32;q21)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the iSCN for the IGH-CCND1 rearrangement typically found in Mantle cell lymphoma?

A

t(11;14)(q13;q32)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the iSC for the IGH-MYC rearrangement found in 80% of Burkitt lymphoma cases?

A

t(8;14)(q34;q32)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the ISCN for the PAX3-FOXO1 and PAX7-FOXO1 rearrangements identified in rhabdomyosarcoma?

A

PAX3-FOXO1 - t(2;13)(q35;q14)
PAX7-FOXO1 - t(1;13)(p36;q14)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the ISCN for the SS18 rearrangement typically seen in synovial sarcoma and what genes can be involved?

A

t(x;18)(p11.2;q11.2)
Chromosome 18 - SS18
Chromosome x can be SSX1, SSX2 or SSX4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the ISCN for the FUS-DDIT3 fusion characteristic of myxoid liposarcoma?

A

t(12;16)(q13;q11)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the ISC for the EWSR1-ATAF1 rearrangement seen most frequently in clear cell sarcoma?

A

t(12;22)(q13;q12)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the ISCN for the TCF-PBX1 fusion which is associated with a poor prognosis in ALL?

A

t(1;19)(q23;p13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the ISCN for the TLF-HLF fusion which is associated with a poor prognosis in ALL?

A

t(17;19)(q22;q13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is the ISCN for the ETV6-RUNX1 fusion which is associated with a good prognosis in ALL?

A

t(12;21)(p13;q22)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the ISCN for the IGH–BCL2 rearrangement seen in 90% of follicular lymphoma?

A

t(14;18)(q32;q21)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is the ISCN for the IGH-CCND1 rearrangement identified in Mantle Cell Lymphoma?

Study These Flashcards
A

t(11;14)(q13;q32)

21
Q

What is the ISCN for the IGH-MYC rearrangement identified in 80% of Burkitt lymphoma?

Study These Flashcards
A

t(8;14)(q34;q32)

22
Q

What is the ISCN for the IGH-FGFR3 fusion which is associated with a poor prognosis in multiple myeloma and Smouldering Multiple Myeloma?

Study These Flashcards
A

t(4;14)(p13;q32)

23
Q

What genomic change is seen in 90% of Waldenstrom marcoblobulinemia and can be used to rule out marginal zone/MALT lymphoma?

24
Q

Mutations in what gene cause resistance to Ibrutinib for the treatment of Waldenstroms marcoglobulinemia?

25
What is the ISCN for PML-RARA?
t(15;17)(q24.1;q21.2)
26
What is the most common MPL mutation seen in MPN?
W515L/K
27
What mutation occurs in the majority of systemic mastocytosis cases?
KIT D816V
28
What are the four TPMT deficiency alleles which account for 95% of TMPT deficiency cases?
o TPMT 2* (238G>C) – 100x decrease in activity (very low) o TPMT *3A (contains two SNPs, *3B and *3C) – No detectable enzyme activity o TPMT *3B (460G>A) – 4x decrease in activity (very low) o TPMT *3C (719A>G)) – 1.4x decrease in activity
29
What are the four clinically relevant DPYD variants and their associated impact on DPD function?
o c.1905+1G>A, activity 0 o c.1679T>G, activity 0 o c.2846A>T, activity 0.5 o c.1129-5923C>G (c.1236G>A), activity 0.5
30
What variant is in perfect linkage disequilibrium with the DPYD c.1129-5923C>G variant?
The synonymous variant c.1236G>A This can be used as a proxy when testing
31
What are the hotspots of GNAQ and GNA11 in uveal melanoma?Varin
Exons 4 & 5 Codons Q209 and R183
32
What proportion of GIST tumours have a KIT or a PDGFRA variant?
KIT - 80%, PDGFRA 10%
33
What proportion of idiopathothic eosinophilia cases have a FIP1L1-PDGFRA fusion?
10-20%
34
What are the time frames for analysis of a ctDNA sample in an EDTA and a Cell Stabilisation tube?
EDTA - 1 hour Cell Stabilisation -At lab within 48 hours
35
What proprtion of Burkitt Lymphoma cases has the IHC-MYC rearrangement?
80%
36
How is Burkitt-like lymphoma differentiated from Burtkittts?
Does not have an MYC rearrangement and as an abnormal 11q
37
How is High grade B-cell lymphoma distinguished from Burkitts?
Also has a MYC rearrangement but additionally has a BCL2 and/or BCL6 rearrangement
38
What proportion of WM (MYD88+ and -ve) has a CXCR4 variant?
35% of cases with MYD88, 5% MYD88 -ve
39
What lymphomas does MYD88 distinguish Waldenstrom's from?
IgM myeloma (MGUS) or Marginal Zone Lymphoma
40
How many copies of MDM2 is required to be considered a gain in sarcomas?
>4 in 10 cells
41
What diagnoses in sarcomas does MDM2 amplification help inform?
- Well differentiated liposarcoma o. MDM2 used to differentiate from benign lipomatous tumours - Dedifferentiated liposarcoma o MDM2 used to differentiate dedifferentiated liposarcoma from high grade sarcoma. - Bone tumours o MDM2 in low grade fibrous tumour supports low grade osteosarcoma o MDM2 in high grade osteosarcoma supports progression from a low grade tumour.
42
What is charactertistic of well differentiated liposarcoma?
o Characterised by giant marker and/or supernumery ring chromosomes, both of which contain multiple copies of MDM2.
43
What proportion of colorectal cancers have KRAS, NRAS and BRAF V600E variants?
KRAS - 40% NRAS - 5-8% BRAF V600E - 5-9%
44
e) What enzymes are used in DNA extraction?
- Protease – denature proteins (Proteinase K) - RNAase – Removed traces of RNA in a DNA extraction - DNAse – Removes traces of DNA in an RNA extraction - Lytic enzymes – Cell lysis (many types, e.g. Lysozyme)
45
d) What are the major components of extraction buffer?
- Tris, EDTA, NaCl, sodium lauryl and SDS.
46
f) What are the types of DNA damage caused by DNA fixation?
- Crosslinks - Fragmentation - Abasic Sites - Deamination of Cytosine Bases (cytosine -> Uracil)
47
g) What stain is used to analyse histology of a cell?
- H&E – Haematoxylin (ribosomes, chromatin (genetic material) deep blue colour) and Eosin (cytoplasm, collagen, connective tissue, orange-pink-red)
48
In which tumour types does MGMT have prognostic implications and therapeutic implications
Prognostic - Gliomas & Glioblastoma Therapeutic - Glioblastoma
49
What is the IDH1 hotspot seen in gliomas and what proprtion of IDH mutations does it account for?
R132H - 90%

Mol Path Part 1 2022 (7 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions