Hematologic malignancies

Question 1

Down Syndrome increases incidence of

Answer 1

Leukemia

Question 2

Benzene is a risk factor of

Answer 2

Myelodysplasia and AML

The chemical benzene may be found in glues, adhesives, cleaning products, paint strippers, tobacco smoke and gasoline

Question 3

Alkylating drugs (Chloramabucil and Melphalan) are a risk factor for

Answer 3

AML

Alkylating agents are a class of antineoplastic or anticancer drugs which act by inhibiting the transcription of DNA into RNA

Question 4

Etoposide is a risk factor for

Answer 4

Secondary leukemia

Translocation of MLL gene at 11q23

Etoposide es usado para tratar el cáncer de células pequeñas de pulmón

Question 5

Radiation is a risk factor for

Answer 5

Leukemia

Question 6

Infection is a risk factor for

Answer 6

Cancer

Infection is the cause of 18% of cancers

Question 7

Viruses are a risk factor for

Answer 7

Leukemia

Question 8

Virus that develops into Burkit lymphoma and Hodgkins lymphoma

Answer 8

Epstein Barr (EBV)

Question 9

Kaposi´s sarcoma is the cause of which virus

Answer 9

Herpes virus 8 (HV8)

Question 10

HIV is the cause of which lymphoma

Answer 10

CNS lymphoma

Question 11

A maltoma is mainly caused by which bacterial organism

Answer 11

H. Pylori

Question 12

In patients with EBV, which protozoa causes B. lymphoma

Answer 12

Malaria

Question 13

Gain of function mutations…..

Answer 13

Oncogenes

Oncogenes are gain of function mutations in normal cellular genes (Protooncogenes)

Question 14

In which pathway do protooncogenes work

Answer 14

Pathways where external signals are transduced to the nucleus to activate genes

Question 15

Most common causes of oncogenes

Answer 15

Translocation, mutation or duplication

Question 16

Hematologic malignancies have a higher risk of

Which genetic abnormality?

Answer 16

Chromosomal translocations

Question 17

What do tyrosine kinases do?

Answer 17

Phosphorylate protein residues

Question 18

Talking about tyrosine kinases, mutations in ABL1 causes which hematological malignancy?

Answer 18

CML

Chronic myeloid leukemia

Question 19

Talking about tyrosine kinases, mutations in JAK2 causes which hematological malignancy?

Answer 19

Myeloproliferative neoplasms

Question 20

Talking about tyrosine kinases, mutations in FLT3 causes which hematological malignancy?

Answer 20

AML

Acute myeloid leukemia

Question 21

Talking about tyrosine kinases, mutations in KIT causes which hematological malignancies?

Answer 21

System mastocytosis and AML

Question 22

Talking about tyrosine kinases, mutations in Bruton kinase (BTK) causes which hematological malignancy?

Answer 22

CLL

Question 23

Loss of function mutations…

Answer 23

Tumorr-suppressor genes

Question 24

Most common tumor suppressor gene in cancer

Answer 24

p53

Question 25

TET2 mutations are present in

Answer 25

Myeloid malignancies (20%) | Except CML ## Footnote TET2 mutations are present in 1/5 of healthy elderly patient

Question 26

Speaking of point mutations, the **VAL617Phe** mutation, causes... | Which protein? Which disease?

Answer 26

VAL617Phe mutations in **JAK2** gene leads to activation of JAK2 in **myeloproliferative disease**

Question 27

Speaking of point mutations, **RAS** or **p53** mutations are relevant in

Answer 27

Hematopoietic malignancy

Question 28

Speaking of point mutations in **AML**, 35% of patients have a **frameshift change**, which means...

Answer 28

The nucleophosmin gene has insertion of 4 base pairs

Question 29

In 30% of patients with **AML**, what are their point mutations?

Answer 29

- Internal tandem duplication - Point mutations in FLT-3 gene

Question 30

When speaking about **translocations** in hematologic malignancies, we can have two mechanisms:

Answer 30

1. Fusion of two genes 2. Overexpression of a normal cellular gene ## Footnote Translocations are characteristic of hematologic maignancies

Question 31

Translocation (8:21)

Answer 31

CBF/ETO in AML

Question 32

Translocation (9:22) | Philadelphia gene

Answer 32

BCR-ABL1 in CML

Question 33

Translocation (15:17)

Answer 33

RAR-PML in Acute promyelocytic leukemia (APL)

Question 34

Translocation (12:21)

Answer 34

TEL-AML1 in B-ALL

Question 35

Overexpression of a normal cellular gene (Translocation) almost always involve

Answer 35

TCR or immunoglobulin gene locus

Question 36

Overexpression of Bcl-2 can be seen in

Answer 36

Follicular lymphoma | t (14:18) ## Footnote Bcl-2 es una familia de proteínas formada por alrededor de 25 miembros que regulan procesos de permeabilización mitocondrial y constituyen un punto clave en la vía intrínseca de apoptosis celular.

Question 37

Overexpression of MYC can be seen in

Answer 37

Burkitt lymphoma

Question 38

Deletion in 13q14 can lead to

Answer 38

CLL

Question 39

Loss of multiple chromosomes can lead to

Answer 39

ALL

Question 40

Duplication and amplification is NOT common in hematopoietic malignancies but can involve | Which gene?

Answer 40

MLL gene | mixed-lineage leukemia

Question 41

Epigenetic alterations are specially important in

Answer 41

Myeloid malignancies

Question 42

Examples of epigenetic alterations in myeloid malignancies

Answer 42

- Methylation of cytosine residues in DNA - Acethylation or methylation of histone proteins that package DNA

Question 43

Effect of demethylating agents (Azacytidine)

Answer 43

Increase gene transcription in myelodisplastic syndrome (MDS) and AML

Question 44

Deletion of miR15a/miR16-1 is relevant in

Answer 44

CLL | Including the 13q deletion