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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
slow, indolent course; can transform to DLBCL (Richter’s syndrome
CLL/SLL;
26
Absolute lymphocytosis on peripheral blood smear: • W/ small lymphocytes, smudge cells, AIHA (spherocytes)
CLL/SLL;
27
large, rapidly expanding abdominal mass—higher grade type lymphoma)
CLL Transformation to DLBCL or Richters Syndrome
28
overexpression of cycle D1 that promotes G1 to S-phase progression.
Mantle Cell Lymphoma
29
Cyclin D1 chromosome
11
30
IgH chromosome
14
31
t(11, 14)
Mantle Cell Lymphoma
32
t(14:18)
Follicular lymphoma
33
BCL gene chromosome
18
34
over expression of BCL2 protein and therefore increased cell survival
Follicular lymphoma
35
``` (14:18) chromosomal translocation; fusion of the BCL gene on chromosome 18 with the IgH locus on chromosome 14 ```
Follicular lymphoma
36
``` mutations of BCL6 which is involved in normal germinal B-cell maturation and growth arrest and apoptosis; (14:18) translocation; MYC translocations; ```
Diffuse Large B-cell | lymphoma
37
MYC gene chromosome
chromosome 8
38
(8:14) translocation
Burkitt lymphoma
39
translocations of the MYC gene on chromosome 8 mostly with the IgH gene on chromosome 14
Burkitt lymphoma
40
Overexpression of BCL-6
DLBCL
41
``` 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) ```
DLBCL
42
constitutional symptoms of fever, night sweats, weight loss
B symptoms in Hodgkins
43
Strongly associated w/ EBV
Hodgkins
44
activation of NF-kappaB transcription factor
Hodgkins
45
large B cells with | multilobcd nuclei and prominent nucleoli
Reed Sternberg cells
46
activation of NF-kappaB transcription factor--> result?
↑lymphocyte survival and proliferation
47
a variant of the Reed‐Sternberg cell which shows a large clear space surrounding the nucleus
lacunar cell; refers to nodular sclerosis
48
The lacunar cells express (1)
CD15, CD30 and PAX5 a pan B‐cell marker; nodular sclerosis
49
mass in the cervical, supraclavicular or commonly the mediastinal area in young adolescents
Nodular sclerosis
50
shows characteristic nodules surrounded by bands of collagenous tissue and containing mixtures of lymphoid cells, inflammatory cells and lacunar cells
nodular sclerosis
51
Hodkgins: | older patients and in HIV+ patients of any age
Lymphocyte depleted
52
Hodkgins: | best prognosis
nodular sclerosis
53
Translocation IgG locus chromosome 14 fusion partner fibroblast growth factor 3 on chromosome 4
Multiple | myeloma
54
Chromosomal translocations IgH locus on chromosome 14 and PAX5 gene on chromosome 9
Lymphoplasmacytic | Lymphoma
55
Reed sternberg cells cytology
CD15+ CD30+ CD20-
56
bilobed nucleus with prominent nucleolus with surrounding clear space
RS cell
57
hodgkins lymphoma (4 types) vs. lymphocyte predominant HL cytology
Hodgkins--> CD15+ CD30+ CD20- PAX5 | lymphocyte pred--> CD20+ BCL6;
58
lymphocyte predominant histo hallmark
popcorn cell
59
nodular sclerosis histo hallmark
bands of collagen bet. the lymph node nodules;
60
mixed cellularity histo hallmark
lymphocytes, EOSINOPHILS, many RS cells
61
increased susceptibility to infection
multiple myeloma
62
bone pain fractures; HYPERCALCEMIA thrombocytopenia
multiple myeloma
63
CRAB pneumonic for multiple myeloma
hyperCalcemia Renal involvement (Bence Jones proteinuria) Anemia Bone lytic lesion
64
trisomy 8.
myelodysplastic syndrome
65
RPS14 Ribosomal protein on the lost portion of 5q—which when lost, promotes dysmaturation.
myelodysplastic syndrome
66
myelodysplastic syndrome-->often with good prognosis
5q
67
myelodysplastic syndrome--> poor prognosis
7q
68
Giant platelets
Peripheral blood myelodysplastic syndrome
69
Monosomy of 5 and 7 Deletions 5q ,7q, trisomy 8.
myelodysplastic syndrome
70
Retrovirus-caused (HTLV-1) tumor of CD4+ T-cells;
Adult T-cell Lymphoma/Leukemia
71
Caused by HTLV-1—especially affects populations in southern Japan, Caribbean, West Africa
Adult T-cell Lymphoma/Leukemia
72
Cutaneous lesions | Marked hypercalcemia
Adult T-cell Lymphoma/Leukemia
73
Circulating tumor cells w/ CD25+ (IL-2 receptor)
Adult T-cell Lymphoma/Leukemia
74
CD19, 20, 23 and 5
CLL/SLL

Heme Path (21 decks)

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