mutations Flashcards

1
Q

burkett lymphoma

A

C myc amplification 8:14

lately infected with EBV

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2
Q

Follicular

A

14;18 translocation. amplification of BCL2

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3
Q

TTP

A

ADAMST13

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4
Q

DLBCL

A

BCL6

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5
Q

HHV8

A

primary effusion lymphoma. a type of DLBCL

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6
Q

waldeyer ring

A

Seen in DLBCL

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7
Q

EBV

A

burkett lymphoma
extra nodal NK/T cell lymphoma
thymic carcinoma
HLH (EBV activated) “hemophagocytic lymphhistiocytosis”

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8
Q

MLL2

A

Follicular lymphoma found in 90%

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9
Q

CD23+ CD5 -

A

Follicular lymphoma

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10
Q

mandible involvement

A

endemic Burkett

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11
Q

mass involving ilioceccum or peritoneum

A

Sporadic burkett

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12
Q

multiple myeloma poor outcome

A

13q, 17q deletions

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13
Q

rouleaux formation

A

can be seen in Multuple myeloma or lupus. isn’t super specific

when RBCs stick together

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14
Q

multiple myeloma good outcome

A

translocation of Cyclin D1

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15
Q

solitary myeloma location

A

oronasopharynx or nasal sinuses most times. and lungs

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16
Q

MYD88

A

lymphoplasmocytic lymphoma

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17
Q

mantle zone lymphoma

A

11;14 cyclin D1 over expression (from chromosome 11)

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18
Q

Cd23- CD5 +

A

Mantle zone lymphoma

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19
Q

autoimmune infections or chronic inflammation predisposes you to this condition

A

marginal cell lymphoma

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20
Q

BRAF mutation

A

Hairy cell leukemia

pulmonary lagerhands cell histiocytosis

21
Q

CD11c

A

hairy cell leukemia

22
Q

massive splenomegaly

A

hairy cell leukemia

23
Q

TRAP (tartrate resistant acid phosphatase)

A

seen in hairy cell leukemia

24
Q

ALK

A

Anaplastic large cell lymphoma
good prognosis
T cell tumor
CD30 +

25
Cloverleaf / flower cells
Adult T cell leukemia/lymphoma associated with HTLV-1
26
increased incidence of rheumatologic disorders
Large granular lymphocytic leukemia | neutropenia and anemia dominate the clinical picture
27
20% myeloid blasts in bone
AML
28
non specific esterase +
monocytes
29
AML best prognosis
15;17 translocation. acute promylocytic leukemia
30
RPS14
loss of this is a hallmark of Mylodysplastic syndromes
31
9:22 translocation
``` CML = good prognosis ALL = bad prognosis ```
32
polycythemia vera mutation
JAK2
33
catch 22
``` Di george syndrome associated with thymic hypoplasia Cardiac abnormalities abnormal facies thymic hypoplasia cleft palate hypoparathyroid Chromosome 22 ```
34
myasthenia gravis
thymic hyperplasia
35
hereditary spherocytosis inharitence
Auto Dom or compound heterozygote
36
G6PD inharatence
recessive X linked
37
worse prognosis for CLL
NOTCH 1 mutation. ZAP 70 mutations lack of somatic hypermutation deletions of 11q and 17p
38
Extranodal NK T cell lymphoma rare area of presentation in males
testicles.
39
autoimmune conditions predisposes you to this in the thymus
thymic hyperplasia -> will have more B cells in there
40
horseshoe cells
aplastic large cell lymphoma
41
cloverleaf cells
HTLV1
42
mpl2 and JAK2
essential thrombocytosis and primary myelofirbosis
43
CD46 -
look for in atypical HUS
44
CD55
"decay accelerating factor" | found in paroxysmal nocturnal hemoglobinuria
45
Romiplostim
recombinant thrombopoeitin
46
12;21
BALL
47
NOTCH 1 in kids
T ALL
48
STAT 3
Large granular lymphocytic leukemia