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H/O > Mutations > Flashcards

Mutations Flashcards

1
Q

11q-

A

Neuroblastoma

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2
Q

ALK

A

Neuroblastoma
ALCL t(2;5)
Inflammatory myofibroblastic tumor

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3
Q

ATRX

A

Neuroblastoma

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4
Q

CTNNB1

A

T: WNT pathway in medulloblastoma
N: Hepatoblastoma
N: Hepatocellular carcinoma
B: Desmoid tumor

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5
Q

LOH 16q

A

Wilms tumor - worse outcome

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6
Q

LOH 1p

A 
Wilms tumor (worse outcome)
Neuroblastoma (ass’d w MYCN amplification)
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7
Q

PHOX2B

A

Neuroblastoma: loss of function germ line mutation

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8
Q

TERT

A

Neuroblastoma

Dyskeratosis congenita

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9
Q

ELA2

A

ELANE
Severe congenital neutropenia
Cyclic neutropenia

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10
Q

HAX1

A

Kostmann Syndrome
“Hax out neutrophils at birth and Hax out neurological function”
Ass’d w/ neurological dysfunction

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11
Q

Mitochondrial DNA mutations

A

Pearson syndrome
“Mama Pearson”
Neutropenia/Anemia + Pancreatic insufficiency
Vacuolization of erythroid and myeloid precursors + ring sideroblasts in BM

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12
Q

MPL

A

CAMT

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13
Q

SBDS

A

Schwachmann-Diamond Syndrome

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14
Q

13q-

A

13q deletion syndrome: severe DD, birth defects, predisposition to RB

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15
Q

ATM

A

Ataxia Telangiectasia Syndrome:

  1. Ataxia and chorea when young
  2. Telangiectasia later in life
  3. Immunodifiency and infections
  4. Risk of leukemia and lymphoma
  5. Sensitivity to ionizing radiation
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16
Q

PTCH1

A

Gorlin Syndrome

Medulloblastoma (SHH subtype)

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17
Q

PTPN11

A

Noonan Syndrome
RAS/MAPK pathway
Increased risk of JMML, Neuroblastoma, ERMS

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18
Q

RECQL4

A

Rothmund-Thomson Syndrome

Predisposition to osteosarcoma

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19
Q

RET2

A

MEN2

Increased risk of medullary thyroid carcinoma and pheochromocytoma

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20
Q

RUNX1

A

Familial platelet disorder with predisposition to AML

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21
Q

VHL

A

Von Hippel-Lindau Disease

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22
Q

CXCR4

A 
WHIM Syndrome
Warts
Hypogammaglobulinemia
Infections
Myelokathexis (neutrophils are stuck in the marrow)
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23
Q

GATA2

A

MonoMAC syndrome:
Monocytopenia
B and NK cytopenia
Atypical mycobacterium infection

Familial AML

Emberger syndrome: lymphedema, warts, predisposition to AML/MDS

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24
Q

HPS2

A 
Hermansky-Pudlack syndrome type 2
Albinism
Neutropenia and immune deficiency
Platelet defects (DENSE GRANULES)
Propensity to develop HLH
Pulmonary fibrosis

Platelet aggregometry: Impaired secondary wave w/ epi and ADP

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25
Q

LYST

A

Chediak Higashi:
Albinism w/ giant granules in myeloid cells
Platelet defects (DENSE GRANULES)
Propensity to develop HLH

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26
Q

RAB27A

A 
Griscelli Syndrome type 2
Partial albinism (silver hair)
Propensity to HLH
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27
Q

STAT3

A

Job’s syndrome = Hyper IgE syndrome
Immunodeficiency (neutrophil chemotaxis, T cell function)
High IgE
Eosinophilia

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28
Q

HLA-DR

A 
Marker of immaturity
Common in leukemias except:
APML FAB M3
AMKL FAB M7
T-ALL
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29
Q

TDT

A

Lymphoid immaturity (B- and T-ALL)

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30
Q

CD10

A

B-ALL

Not in KMT2A-rearranged B-ALL
+ in 33% of T-ALL

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31
Q

CD15

A

Classical Hodgkin Lymphoma
+ CD15
+ CD30
- CD45

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32
Q

CD19

A

B cell marker

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33
Q

CD20

A

B cell marker

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34
Q

CD22

A

B-ALL

Only in mature B-cells, not ALL

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35
Q

CD30

A

Classical Hodgkin’s lymphoma

PMBL
ALCL

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36
Q

CD45

A

NLPHL
+ CD45
- CD15
- CD30

ALCL
+ ALK
+ CD30
+ CD45

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37
Q

CD79

A

B cell marker

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38
Q

CD3

A

T cell marker

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39
Q

CD4

A 
T helper cell marker
Binds to MHC class II expressed on antigen-presenting cells
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40
Q

CD5

A

T cell marker

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41
Q

CD7

A

T cell marker

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42
Q

CD8

A

Cytotoxic T cell marker

Binds to MHC class I expressed on all healthy cells as part of self-surveillance

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43
Q

CD13

A

Pan-myeloid marker

+ in AML

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44
Q

CD14

A

Monocytic marker

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45
Q

CD163

A

Rosai-Dorfman disease

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46
Q

CD1a

A

LCH marker

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47
Q

CD207

A

LCH marker

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48
Q

CD33

A

Pan myeloid marker
+ in AML
- in AMKL FAB M7

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49
Q

CD11b

A

Loss of CD11a/b in LAD type 1

Forms macrophage-1 antigen receptor, Mac-1, when bound to CD18

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50
Q

CD18

A

Loss of CD18 in LAD type 1

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51
Q

CD235A

A

Erythroid marker

+ in AML FAB M6

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52
Q

CD55

A

PNH
Mutations in PIGA -> deficiency of CD55/59
Allows C3 to activate the alternate pathway and mediate hemolysis
Pts also at risk for thrombosis

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53
Q

CD59

A

PNH
Mutations in PIGA -> deficiency of CD55/59
Pts at risk for thrombosis

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54
Q

CD41a

A

Platelet marker

+ in AMKL FAB M7

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55
Q

CD42

A

Platelet marker

+ in AMKL FAB M7

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56
Q

CD61

A

Platelet marker

+ in AMKL FAB M7

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57
Q

GPIb

A

Absent in BERNARD SOULIER Syndrome
Binds vWF
Pathologically higher affinity of GPIb in VWD type 2B
Platelet aggregometry: normal except for ristocetin

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58
Q

GPIIb/IIIa

A

Deficient in GLANZMAN’S THROMBASTHENIA
Platelet marker that binds to fibrin
Platelet aggregometry: all abnormal except for ristocetin

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59
Q

CD107a

A

Degranulation marker
Measures NK cell function
Useful in diagnosing HLH

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60
Q

CD56

A

Neuroblastoma marker

NK cell marker

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61
Q

CD99

A

Neuroblastoma

PNET

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62
Q

Desmin

A

RMS

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63
Q

Muscle Specific Actin

64
Q

MyoD

65
Q

Myogenin

A

RMS
Diffusely positive in ARMS
Patchy positive in ERMS

66
Q

NSE

A

Neuroblastoma

67
Q

Synaptophysin

A

Neuroblastoma

PNET

68
Q

Vimentin

A

Ewing sarcoma

PNET

69
Q

NF1 Related Tumors (6)

A
  1. Benign neurofibromas: cutaneous, subcutaneous, plexiform
  2. Low grade optic pathway gliomas
  3. ERMS (RAS pathway activation)
  4. JMML (RAS pathway activation)
  5. Malignant peripheral nerve sheath tumor (MPNST)
  6. Pheochromocytoma
70
Q

NF2 Related Tumors (4)

A
  1. B/L vestibular schwannoma (acoustic neuroma)
  2. Meningioma
  3. Ependymoma
  4. Schwannoma
71
Q

Congenital (juvenile) pernicious anemia

A

AR mutation in intrinsic factor gene
Problem with absorption of vitamin B12
Tx: IM B12

72
Q

Imerslund-Grasbeck syndrome

A

AR mutation in AMN or CUBN
Problem with vitamin B12 and intrinsic factor complex absorption
Causes macrocytic anemia and neurologic symptoms early in infancy
Tx: IM B12

73
Q

Transcobalamin II deficiency

A

Problem with vitamin B12 transport into the target cells
Serum vitamin B12 levels are normal because it is still absorbed and bound to transcobalamin I in the serum
Causes severe pancytopenia, diarrhea, and FTT

74
Q

Endocrine complication of diffuse liver hemangioma

A

Hypothyroidism

75
Q

Cancer from vinyl chloride exposure

A

Hepatic angiosarcoma

76
Q

Next evaluation of an infant with > or = 5 cutaneous infantile hemangiomas

A

Liver ultrasound to look for liver hemangiomas

77
Q

CGD ppx

A

Bactrim

Itraconazole

78
Q

Patient with diabetes and fungal infections

A

Myeloperoxidase deficiency

79
Q

Disorder associated with splenic rupture and miscarriages

A

Afibrinogenemia

Dysfibrinogenemia

80
Q

Pathognomonic for osteosarcoma

A

Tumor osteoid

81
Q

soft tissue sarcoma associated with immunosuppression, HIV, or RB1 deficient patients (in the uterus)

A

Leiomyosarcoma

82
Q

Contact factors

A

Factor XII
Prekallikrein
HMWK

Deficiencies cause prolonged PTT without bleeding

83
Q

Ovarian tumor with virilization

A

Sertoli-Leydig tumor: elevated levels of testosterone cause secondary amenorrhea and virilization

84
Q

Ovarian tumor with precocious puberty or secondary amenorrhea

A

Juvenile granulosa cell tumor: elevated levels of estrogen cause precocious puberty (if prepubertal) or secondary amenorrhea (if postpubertal)

85
Q

What do sex cord stromal tumors produce?

A

Inhibin

Can be used to diagnose and followup

86
Q

Pure fetal histology hepatoblastoma tx

A

Resection and observation, no chemo

87
Q

Liver tumors with low AFP

A

Small cell undifferentiated hepatoblastoma: often with loss of INI1 and rhabdoid-like
Fibrolamellar variant of HCC

88
Q

GCT with high AFP

A

Yolk sac tumor

89
Q

GCT with high b-HCG

A

Choriocarconoma

90
Q

Diencephalic syndrome

A

Thalamic and hypothalamic low grade glioma

FTT, emaciation despite regular intake

91
Q

Parinaud syndrome

A

Tumors of the pineal region

Upgaze paralysis, convergence retraction nystagmus, pupillary dilation with light-near dissociation

92
Q

Rosenthal fibers

A

Pilocytic astrocytoma

93
Q

Perivascular pseudorosette

A

Ependymoma

94
Q

t(12;21)

A

B-ALL
ETV6(12) and RUNX1(21) translocation
TEL-AML1
Good prognosis

95
Q

t(9;22)

A

B-ALL and CML
BCR(22) and ABL1(9) translocation
Bad outcomes for B-ALL. Better with TKIs

96
Q

11q23 fusions

A

Infantile ALL and AML commonly M4/M5: KMT2A (11, aka MLL)

97
Q

t(8;14)

A

Burkett’s lymphoma/leukemia: cMYC and IGH translocation

98
Q

t(8;21)

A

AML M2: RUNX1 (21) and RUNX1T1 (8) translocation (aka, AML1-ETO_
Core binding factor related AML
Most commonly in FAB M2 (AML with maturation)

99
Q

Inv(16)

A

AML M4eo: inversion leads to fusion of CBFB (16) and MYH11 (16)
Core binding factor related AML
Most commonly in FAB M4eo AML

100
Q

t(15;17)

A

AML M3: PML (15) and RARa (17) translocation

101
Q

t(1;13)

A

ARMS

PAX7-FOXO1

102
Q

t(2;13)

A

ARMS: PAX3-FOXO1

103
Q

t(11;22)

A

Ewing sarcoma: EWS (22) and FLI1 (11)

104
Q

GATA1

A

Down Syndrome related AMKL and TAM
Arises in the fetal liver and is present in both AMKL and TAM
Second hit mutation required to progress from TAM to AMKL

105
Q 
NF1
NRAS
KRAS
PTPN11
CBL
A

JMML
Activating germline or somatic mutation in RAS pathway
Possible spontaneous resolution with Noonan’s syndrome (PTPN11)

106
Q

BRAF V600E

A

LCH
Some pilocytic astrocytomas
Papillary craniopharyngioma

107
Q

H3K27M

A

DIPG

Horrible prognosis. Horrible mutation to memorize

108
Q

MYCN

A

Neuroblastoma

High risk feature

109
Q

SMARCB1

A 
Rhabdoid tumors (ATRT)
Schwannomatosis
110
Q

WT1

A

Sporadic Wilms tumor
WAGR
Denys-Drash Syndrome

111
Q

FAS
FASL
CASP10

112
Q

What is needed to diagnose ALPS?

A

> 6months of lymphadenopathy or splenomegaly
Increased DN-T cells
One primary accessory criterion: defective lymphocyte apoptosis or characteristic mutation

113
Q

What is needed to make a probable ALPS diagnosis?

A

> 6months of lymphadenopathy or splenomegaly
Increased DN-T cells
No primary but one secondary criterion:
1. Elevated plasma levels of FASL or IL-10 or IL-18 or Vitamin B12 levels
2. Consistent immunohistology
3. Autoimmune cytopenias AND elevated IgG
4. Family history of lymphoproliferation

114
Q

gp47 phox

A

CGD: AR (25%)

Defects in phagocyte NADPH oxidase leading to immunodeficiency

115
Q

gp91 phox

A

CGD: X-linked (70%)

Defects in phagocyte NADPH oxidase leading to immunodeficiency

116
Q

What are the familial HLH mutations?

A 
PRF1
UNC13D
STX11
RAB27A
SH2D1A
XIAP

“The family with HLH carried their stuff in a trunk. They PERForated it with holes and put STX (sticks) through it to make the trUNC easier to carry.”

117
Q

PIGA

A

PNH
Somatic mutations -> deficiency of CD55/59
No CD55/59 on RBCs allows complement (C3) to activate the alternative pathway and mediate hemolysis.
Increased risk of thrombosis

118
Q

11p15

119
Q

DICER1

A 
DICER Syndrome
Increased risk of several cancers:
PPB
Thyroid/multinodular goiter
Cystic nephromas
Botryoid RMS
Serotoli-Leydig sex cord stromal tumors
120
Q

RB1

A 
Inherited retinoblastoma
Associated with other cancers:
- Osteosarcoma
- Pineoblastoma (trilateral RB)
- Soft tissue sarcomas (Leiomyosarcoma > fibrosarcoma)
121
Q

TP53

A 
Li-Fraumeni Syndrome
Increased cancer risk
- Sarcomas
- Malignant glioma
- Low-hypodiploid ALL
- Choroid plexus carcinoma
- Adrenocortical carcinoma
122
Q

TSC1/TSC2

A 
Tuberous Sclerosis
Clinical:
- Hypopigmented lesions (ash leaf)
- Facial angiofibromas
- Benign hamartomas (tubers)
- Subependymal giant cell astrocytoma (SEGA): MTOR inhibitors
- Renal cell carcinoma
123
Q

del(5q)

A

MDS/AML

Therapy related AML after exposure to alkylating agents or radiation

124
Q

del(7q)

A

MDS/AML

Therapy related AML after exposure to alkylating agents or radiation

125
Q

del(X)

del(Y)

A

Ph-like ALL: creates a P2RY8-CRLF2 fusion

More common in Hispanic adolescents

126
Q

iAMP(21)

A

B-ALL
Amplification of chromosome 21 leading to >/= 3 copies of RUNX1
Worse outcome

127
Q

t(1;19)

A

B-ALL

TCF3 (19) and PBX1 (1) translocation (E2A-PBX1)

128
Q

t(1;22)

A

AMKL

RBM15 (1, aka OTT) and MKL1 (22) translocation

129
Q

t(10;11)

A

AML
KMT2A (11q23) and AF10 (10)
Mostly in AML FAB M4/M5

130
Q

t(11;14)

A

T-ALL

TCRA/TCRD (14) and LMO2 (11) translocation

131
Q

t(11;19)

A

ALL/AML

KMT2A (11q23) and ENL (19) translocation

132
Q

t(2;5)

A

ALCL

ALK (2) and NPM1 (5) translocation

133
Q

t(2;8)

A

Burkitt’s lymphoma/leukemia

cMYC (8) and kappa light chain promoter (2) alternate translocation

134
Q

t(4;11)

A

Infantile ALL

KMT2A (11q23) and AF4 (4) translocation

135
Q

t(8;22)

A

Burkitt’s lymphoma/leukemia

cMYC (8) and lambda light chain promoter (22) alternate translocation

136
Q

t(9;11)

A

Infantile ALL

KMT2A (11a23) and AF9 (9)

137
Q

i(12p)

A

Germ cell tumors: gain of short arm of chromosome 12

138
Q

RELA fusion

A

Subtype of supratentorial ependymoma

Poor prognosis

139
Q

Supernumerary ring chromosome (12q13-15)

A

Parosteal osteosarcoma: low grade, treated with resection alone

140
Q

Burkitt Lymphoma Markers

A 
Burkitt Lymphoma: Mature B cell NHL
MYC translocations
Surface IgM and Ig light chains
B cell markers: CD19, CD20, CD22, CD79a
Germinal Center markers: CD10, BCL6
HLA-DR, CD43
EBV associated: CD21
141
Q

Burkitt Lymphoma Markers

A 
Burkitt Lymphoma: Mature B cell NHL
MYC translocations
Surface IgM and Ig light chains
B cell markers: CD19, CD20, CD22, CD79a
Germinal Center markers: CD10, BCL6
HLA-DR, CD43
EBV associated: CD21
142
Q

DLBL markers

A 
Mature B Cell Hodgkin Lymphoma
CD19
CD20
CD22
CD79a
PAX5
CD10
BCL6
143
Q

DLBL markers

A 
Mature B Cell Hodgkin Lymphoma
CD19
CD20
CD22
CD79a
PAX5
CD10
BCL6
144
Q

DLBL markers

A 
Mature B Cell Non Hodgkin Lymphoma
CD19
CD20
CD22
CD79a
PAX5
CD10
BCL6
145
Q

ALCL Markers

A

Mature T cell Non Hodgkin Lymphoma

NPM-ALK
CD30
CD45

146
Q

ALCL Markers

A

Mature T cell Non Hodgkin Lymphoma

NPM-ALK
CD30
CD45

147
Q

What is IL2RG associated with?

A

T-B+ SCID

Normal number of B cells but don’t function properly due to lack of antibody production by T helper cells.

148
Q

What is JAK3 associated with?

A

T-B+ SCID

Normal number of B cells, but they don’t function properly due to lack of antibody production by T helper cells.

149
Q

What is IL7R associated with?

A

T-B+ SCID
Low T cell number
Normal NK cells
Normal number of B cells but don’t function properly due to lack of antibody production by T helper cells.

150
Q

What is AK2 associated with?

A

T-B- SCID
Also with NK cell deficiency
Severe neutropenia
Premature, SGA, sick

151
Q

What is ADA deficiency associated with?

A

T-B- SCID

Toxic metabolites build up in T, B, and NK cells

152
Q

What is RAG1/RAG2 mutation associated with?

A

T-B- SCID

This is needed for TCR and BCR recombination but not for NK cells.

153
Q

What is DCLRE1C (Artemis) mutation associated with?

A

T-B- SCID

It is needed for DNA repair but not for NK cells

154
Q

What does the dilute Russel viper venom time test for?

A

Lupus anticoagulant cause by an antiphospholipid antibody

155
Q

Inhibitors are more common in which type of hemophilia?

A

Hemophilia A

156
Q

What is the Steinherz-Beyer algorithm?

A

Evaluation of CNS (leukemia) disease in a traumatic lumbar puncture.
CSF WBC >/= 5 AND
CSF WBC/CSF RBC is >2x Blood WBC/Blood RBC = CNS3

H/O (1 decks)

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