Hematologic malignancies Flashcards

1
Q

Down Syndrome increases incidence of

A

Leukemia

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2
Q

Benzene is a risk factor of

A

Myelodysplasia and AML

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

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3
Q

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

A

AML

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

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4
Q

Etoposide is a risk factor for

A

Secondary leukemia

Translocation of MLL gene at 11q23

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

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5
Q

Radiation is a risk factor for

A

Leukemia

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6
Q

Infection is a risk factor for

A

Cancer

Infection is the cause of 18% of cancers

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7
Q

Viruses are a risk factor for

A

Leukemia

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8
Q

Virus that develops into Burkit lymphoma and Hodgkins lymphoma

A

Epstein Barr (EBV)

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9
Q

Kaposi´s sarcoma is the cause of which virus

A

Herpes virus 8 (HV8)

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10
Q

HIV is the cause of which lymphoma

A

CNS lymphoma

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11
Q

A maltoma is mainly caused by which bacterial organism

A

H. Pylori

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12
Q

In patients with EBV, which protozoa causes B. lymphoma

A

Malaria

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13
Q

Gain of function mutations…..

A

Oncogenes

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

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14
Q

In which pathway do protooncogenes work

A

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

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15
Q

Most common causes of oncogenes

A

Translocation, mutation or duplication

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16
Q

Hematologic malignancies have a higher risk of

Which genetic abnormality?

A

Chromosomal translocations

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17
Q

What do tyrosine kinases do?

A

Phosphorylate protein residues

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18
Q

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

A

CML

Chronic myeloid leukemia

19
Q

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

A

Myeloproliferative neoplasms

20
Q

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

A

AML

Acute myeloid leukemia

21
Q

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

A

System mastocytosis and AML

22
Q

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

A

CLL

23
Q

Loss of function mutations…

A

Tumorr-suppressor genes

24
Q

Most common tumor suppressor gene in cancer

A

p53

25
Q

TET2 mutations are present in

A

Myeloid malignancies (20%)

Except CML

TET2 mutations are present in 1/5 of healthy elderly patient

26
Q

Speaking of point mutations, the VAL617Phe mutation, causes…

Which protein? Which disease?

A

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

27
Q

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

A

Hematopoietic malignancy

28
Q

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

A

The nucleophosmin gene has insertion of 4 base pairs

29
Q

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

A
  • Internal tandem duplication
  • Point mutations in FLT-3 gene
30
Q

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

A
  1. Fusion of two genes
  2. Overexpression of a normal cellular gene

Translocations are characteristic of hematologic maignancies

31
Q

Translocation (8:21)

A

CBF/ETO in AML

32
Q

Translocation (9:22)

Philadelphia gene

A

BCR-ABL1 in CML

33
Q

Translocation (15:17)

A

RAR-PML in Acute promyelocytic leukemia (APL)

34
Q

Translocation (12:21)

A

TEL-AML1 in B-ALL

35
Q

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

A

TCR or immunoglobulin gene locus

36
Q

Overexpression of Bcl-2 can be seen in

A

Follicular lymphoma

t (14:18)

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.

37
Q

Overexpression of MYC can be seen in

A

Burkitt lymphoma

38
Q

Deletion in 13q14 can lead to

A

CLL

39
Q

Loss of multiple chromosomes can lead to

A

ALL

40
Q

Duplication and amplification is NOT common in hematopoietic malignancies but can involve

Which gene?

A

MLL gene

mixed-lineage leukemia

41
Q

Epigenetic alterations are specially important in

A

Myeloid malignancies

42
Q

Examples of epigenetic alterations in myeloid malignancies

A
  • Methylation of cytosine residues in DNA
  • Acethylation or methylation of histone proteins that package DNA
43
Q

Effect of demethylating agents (Azacytidine)

A

Increase gene transcription in myelodisplastic syndrome (MDS) and AML

44
Q

Deletion of miR15a/miR16-1 is relevant in

A

CLL

Including the 13q deletion