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Heme Path > Cytogenetic/translocations > Flashcards

Cytogenetic/translocations Flashcards

1
Q

BCR gene

A

chromosome 22

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2
Q

ABL gene

A

chromosome 9

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3
Q

BCR-ABL fusion gene

A

Chronic Myelogenous Leukemia (CML)

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4
Q

activating point mutations
in JAK/2 TYROSINE
KINASE

A

P. vera
Essential thrombocytosis
Primary
myelofibrosis

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5
Q

Polycythemia vera Cytogenetic

A

activating point mutations
in JAK/2 TYROSINE
KINASE

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6
Q

MPL mutation–> thrombopoietin activated

protein kinase

A

Essential
thrombocytosis;
Primary
myelofibrosis

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7
Q

Calreticulin mutation

A

Essential thrombocytosis;

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8
Q

functions
in the
endoplasmic reticulum

A

Calreticulin mutation

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9
Q

Inappropriate release of
fibrogenic factors from
neoplastic megakaryocytes
PDGF and TGF-beta

A

Primary

myelofibrosis

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10
Q

BCR-ABL fusion protein induces signaling via

A

RAS and JACK/STAT pathways

CML

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11
Q

Negative Leukocyte alkaline phosphatase (LAP)

A

CML

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12
Q

Positive LAP

A

leukemoid rxn

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13
Q

can transfrom to AML or ALL

A

CML

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14
Q

loss of function mutations in Pax5,
TEL/AML translocation
and E2A

A

B cell ALL

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15
Q

NOTCH gain of function

mutation

A

T cell ALL

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16
Q

B-cell have Ig light chain and CD19, 20, 22, 103 and annexin but NOT CD21

A

Hairy Cell Leukemia

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17
Q

express CD45 and Tartrate resistant acid phosphatase (TRAP).

A

Hairy Cell Leukemia

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18
Q

t(15,17)

A

Acute promyelocytic

leukemia (M3)

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19
Q 
PML/RARalpha in-frame
fusion of gene coding
sequences which results in
a functional unregulated
retinoic acid receptor
A

Acute promyelocytic

leukemia (M3)

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20
Q

Activating point mutations in serine/threonine kinase BRAF downstream from RAS in the MAPK cascade.

A

Hairy Cell Leukemia

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21
Q

up regulation of the antiapoptotic

protein BCL-2

A

CLL/

SLL

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22
Q

trisomy
12 or deletions of 11, 13, or
17.

A

CLL/

SLL

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23
Q

Bcl-2

A

Normally antiapoptotic; when UPREGULATED, then no apoptosis–> cancer

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24
Q 
CD19, CD20 and
coexpress CD5 (T-cell marker)
A

CLL/SLL;
Mantle cell
lymphoma

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25
Q

slow, indolent
course; can
transform to DLBCL
(Richter’s syndrome

A

CLL/SLL;

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26
Q

Absolute lymphocytosis on peripheral blood smear:
•
W/ small lymphocytes, smudge cells, AIHA (spherocytes)

A

CLL/SLL;

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27
Q

large, rapidly expanding abdominal mass—higher grade type lymphoma)

A

CLL Transformation to DLBCL or Richters Syndrome

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28
Q

overexpression of cycle D1 that promotes G1 to S-phase progression.

A

Mantle Cell Lymphoma

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29
Q

Cyclin D1 chromosome

A

11

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30
Q

IgH chromosome

31
Q

t(11, 14)

A

Mantle Cell Lymphoma

32
Q

t(14:18)

A

Follicular lymphoma

33
Q

BCL gene chromosome

34
Q

over expression of BCL2
protein and therefore
increased cell survival

A

Follicular lymphoma

35
Q 
(14:18) chromosomal
translocation; fusion of the
BCL gene on chromosome
18 with the IgH locus on
chromosome 14
A

Follicular lymphoma

36
Q 
mutations of BCL6 which is
involved in normal
germinal B-cell maturation
and growth arrest and
apoptosis;
(14:18) translocation;
MYC translocations;
A

Diffuse Large B-cell

lymphoma

37
Q

MYC gene chromosome

A

chromosome 8

38
Q

(8:14) translocation

A

Burkitt lymphoma

39
Q

translocations of the MYC
gene on chromosome 8
mostly with the IgH gene
on chromosome 14

A

Burkitt lymphoma

40
Q

Overexpression of BCL-6

41
Q 
rapidly enlarging mass
at nodal or commonly extra nodal
sites almost anywhere in the body
(skin, bone, brain and GI tract,
tonsils, liver and spleen)
42
Q

constitutional symptoms of fever, night sweats, weight loss

A

B symptoms in Hodgkins

43
Q

Strongly associated w/ EBV

44
Q

activation of NF-kappaB transcription factor

45
Q

large B cells with

multilobcd nuclei and prominent nucleoli

A

Reed Sternberg cells

46
Q

activation of NF-kappaB transcription factor–> result?

A

↑lymphocyte survival and proliferation

47
Q

a variant of the Reed‐Sternberg cell which shows a large clear space surrounding the nucleus

A

lacunar cell; refers to nodular sclerosis

48
Q

The lacunar cells express (1)

A

CD15, CD30 and PAX5 a pan B‐cell marker; nodular sclerosis

49
Q

mass in the
cervical, supraclavicular or
commonly the mediastinal area in
young adolescents

A

Nodular sclerosis

50
Q

shows characteristic nodules surrounded by bands of collagenous tissue and containing mixtures of lymphoid cells, inflammatory cells and lacunar cells

A

nodular sclerosis

51
Q

Hodkgins:

older patients and in HIV+ patients of any age

A

Lymphocyte depleted

52
Q

Hodkgins:

best prognosis

A

nodular sclerosis

53
Q

Translocation IgG locus
chromosome 14 fusion
partner fibroblast growth
factor 3 on chromosome 4

A

Multiple

myeloma

54
Q

Chromosomal
translocations IgH locus on
chromosome 14 and PAX5
gene on chromosome 9

A

Lymphoplasmacytic

Lymphoma

55
Q

Reed sternberg cells cytology

A

CD15+ CD30+ CD20-

56
Q

bilobed nucleus with prominent nucleolus with surrounding clear space

57
Q

hodgkins lymphoma (4 types) vs. lymphocyte predominant HL cytology

A

Hodgkins–> CD15+ CD30+ CD20- PAX5

lymphocyte pred–> CD20+ BCL6;

58
Q

lymphocyte predominant histo hallmark

A

popcorn cell

59
Q

nodular sclerosis histo hallmark

A

bands of collagen bet. the lymph node nodules;

60
Q

mixed cellularity histo hallmark

A

lymphocytes, EOSINOPHILS, many RS cells

61
Q

increased susceptibility to infection

A

multiple myeloma

62
Q

bone pain
fractures;
HYPERCALCEMIA
thrombocytopenia

A

multiple myeloma

63
Q

CRAB pneumonic for multiple myeloma

A

hyperCalcemia
Renal involvement (Bence Jones proteinuria)
Anemia
Bone lytic lesion

64
Q

trisomy 8.

A

myelodysplastic syndrome

65
Q

RPS14 Ribosomal protein on the lost portion of 5q—which when lost, promotes dysmaturation.

A

myelodysplastic syndrome

66
Q

myelodysplastic syndrome–>often with good prognosis

67
Q

myelodysplastic syndrome–> poor prognosis

68
Q

Giant platelets

A

Peripheral blood myelodysplastic syndrome

69
Q

Monosomy of 5 and 7

Deletions 5q ,7q,
trisomy 8.

A

myelodysplastic syndrome

70
Q

Retrovirus-caused (HTLV-1) tumor of CD4+ T-cells;

A

Adult T-cell Lymphoma/Leukemia

71
Q

Caused by HTLV-1—especially affects populations in southern Japan, Caribbean, West Africa

A

Adult T-cell Lymphoma/Leukemia

72
Q

Cutaneous lesions

Marked hypercalcemia

A

Adult T-cell Lymphoma/Leukemia

73
Q

Circulating tumor cells w/ CD25+ (IL-2 receptor)

A

Adult T-cell Lymphoma/Leukemia

74
Q

CD19, 20, 23 and 5

Heme Path (21 decks)

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