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Mutations Flashcards

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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
LYST
Chediak Higashi: Albinism w/ giant granules in myeloid cells Platelet defects (DENSE GRANULES) Propensity to develop HLH
26
RAB27A
``` Griscelli Syndrome type 2 Partial albinism (silver hair) Propensity to HLH ```
27
STAT3
Job’s syndrome = Hyper IgE syndrome Immunodeficiency (neutrophil chemotaxis, T cell function) High IgE Eosinophilia
28
HLA-DR
``` Marker of immaturity Common in leukemias except: APML FAB M3 AMKL FAB M7 T-ALL ```
29
TDT
Lymphoid immaturity (B- and T-ALL)
30
CD10
B-ALL Not in KMT2A-rearranged B-ALL + in 33% of T-ALL
31
CD15
Classical Hodgkin Lymphoma + CD15 + CD30 - CD45
32
CD19
B cell marker
33
CD20
B cell marker
34
CD22
B-ALL | Only in mature B-cells, not ALL
35
CD30
Classical Hodgkin’s lymphoma PMBL ALCL
36
CD45
NLPHL + CD45 - CD15 - CD30 ALCL + ALK + CD30 + CD45
37
CD79
B cell marker
38
CD3
T cell marker
39
CD4
``` T helper cell marker Binds to MHC class II expressed on antigen-presenting cells ```
40
CD5
T cell marker
41
CD7
T cell marker
42
CD8
Cytotoxic T cell marker Binds to MHC class I expressed on all healthy cells as part of self-surveillance
43
CD13
Pan-myeloid marker | + in AML
44
CD14
Monocytic marker
45
CD163
Rosai-Dorfman disease
46
CD1a
LCH marker
47
CD207
LCH marker
48
CD33
Pan myeloid marker + in AML - in AMKL FAB M7
49
CD11b
Loss of CD11a/b in LAD type 1 | Forms macrophage-1 antigen receptor, Mac-1, when bound to CD18
50
CD18
Loss of CD18 in LAD type 1
51
CD235A
Erythroid marker | + in AML FAB M6
52
CD55
PNH Mutations in PIGA -> deficiency of CD55/59 Allows C3 to activate the alternate pathway and mediate hemolysis Pts also at risk for thrombosis
53
CD59
PNH Mutations in PIGA -> deficiency of CD55/59 Pts at risk for thrombosis
54
CD41a
Platelet marker | + in AMKL FAB M7
55
CD42
Platelet marker | + in AMKL FAB M7
56
CD61
Platelet marker | + in AMKL FAB M7
57
GPIb
Absent in BERNARD SOULIER Syndrome Binds vWF Pathologically higher affinity of GPIb in VWD type 2B Platelet aggregometry: normal except for ristocetin
58
GPIIb/IIIa
Deficient in GLANZMAN’S THROMBASTHENIA Platelet marker that binds to fibrin Platelet aggregometry: all abnormal except for ristocetin
59
CD107a
Degranulation marker Measures NK cell function Useful in diagnosing HLH
60
CD56
Neuroblastoma marker | NK cell marker
61
CD99
Neuroblastoma | PNET
62
Desmin
RMS
63
Muscle Specific Actin
RMS
64
MyoD
RMS
65
Myogenin
RMS Diffusely positive in ARMS Patchy positive in ERMS
66
NSE
Neuroblastoma
67
Synaptophysin
Neuroblastoma | PNET
68
Vimentin
Ewing sarcoma | PNET
69
NF1 Related Tumors (6)
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
NF2 Related Tumors (4)
1. B/L vestibular schwannoma (acoustic neuroma) 2. Meningioma 3. Ependymoma 4. Schwannoma
71
Congenital (juvenile) pernicious anemia
AR mutation in intrinsic factor gene Problem with absorption of vitamin B12 Tx: IM B12
72
Imerslund-Grasbeck syndrome
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
Transcobalamin II deficiency
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
Endocrine complication of diffuse liver hemangioma
Hypothyroidism
75
Cancer from vinyl chloride exposure
Hepatic angiosarcoma
76
Next evaluation of an infant with > or = 5 cutaneous infantile hemangiomas
Liver ultrasound to look for liver hemangiomas
77
CGD ppx
Bactrim | Itraconazole
78
Patient with diabetes and fungal infections
Myeloperoxidase deficiency
79
Disorder associated with splenic rupture and miscarriages
Afibrinogenemia | Dysfibrinogenemia
80
Pathognomonic for osteosarcoma
Tumor osteoid
81
soft tissue sarcoma associated with immunosuppression, HIV, or RB1 deficient patients (in the uterus)
Leiomyosarcoma
82
Contact factors
Factor XII Prekallikrein HMWK Deficiencies cause prolonged PTT without bleeding
83
Ovarian tumor with virilization
Sertoli-Leydig tumor: elevated levels of testosterone cause secondary amenorrhea and virilization
84
Ovarian tumor with precocious puberty or secondary amenorrhea
Juvenile granulosa cell tumor: elevated levels of estrogen cause precocious puberty (if prepubertal) or secondary amenorrhea (if postpubertal)
85
What do sex cord stromal tumors produce?
Inhibin | Can be used to diagnose and followup
86
Pure fetal histology hepatoblastoma tx
Resection and observation, no chemo
87
Liver tumors with low AFP
Small cell undifferentiated hepatoblastoma: often with loss of INI1 and rhabdoid-like Fibrolamellar variant of HCC
88
GCT with high AFP
Yolk sac tumor
89
GCT with high b-HCG
Choriocarconoma
90
Diencephalic syndrome
Thalamic and hypothalamic low grade glioma FTT, emaciation despite regular intake
91
Parinaud syndrome
Tumors of the pineal region Upgaze paralysis, convergence retraction nystagmus, pupillary dilation with light-near dissociation
92
Rosenthal fibers
Pilocytic astrocytoma
93
Perivascular pseudorosette
Ependymoma
94
t(12;21)
B-ALL ETV6(12) and RUNX1(21) translocation TEL-AML1 Good prognosis
95
t(9;22)
B-ALL and CML BCR(22) and ABL1(9) translocation Bad outcomes for B-ALL. Better with TKIs
96
11q23 fusions
Infantile ALL and AML commonly M4/M5: KMT2A (11, aka MLL)
97
t(8;14)
Burkett’s lymphoma/leukemia: cMYC and IGH translocation
98
t(8;21)
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
Inv(16)
AML M4eo: inversion leads to fusion of CBFB (16) and MYH11 (16) Core binding factor related AML Most commonly in FAB M4eo AML
100
t(15;17)
AML M3: PML (15) and RARa (17) translocation
101
t(1;13)
ARMS | PAX7-FOXO1
102
t(2;13)
ARMS: PAX3-FOXO1
103
t(11;22)
Ewing sarcoma: EWS (22) and FLI1 (11)
104
GATA1
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
``` NF1 NRAS KRAS PTPN11 CBL ```
JMML Activating germline or somatic mutation in RAS pathway Possible spontaneous resolution with Noonan’s syndrome (PTPN11)
106
BRAF V600E
LCH Some pilocytic astrocytomas Papillary craniopharyngioma
107
H3K27M
DIPG Horrible prognosis. Horrible mutation to memorize
108
MYCN
Neuroblastoma | High risk feature
109
SMARCB1
``` Rhabdoid tumors (ATRT) Schwannomatosis ```
110
WT1
Sporadic Wilms tumor WAGR Denys-Drash Syndrome
111
FAS FASL CASP10
ALPS
112
What is needed to diagnose ALPS?
>6months of lymphadenopathy or splenomegaly Increased DN-T cells One primary accessory criterion: defective lymphocyte apoptosis or characteristic mutation
113
What is needed to make a probable ALPS diagnosis?
>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
gp47 phox
CGD: AR (25%) | Defects in phagocyte NADPH oxidase leading to immunodeficiency
115
gp91 phox
CGD: X-linked (70%) | Defects in phagocyte NADPH oxidase leading to immunodeficiency
116
What are the familial HLH mutations?
``` 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
PIGA
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
11p15
BWS
119
DICER1
``` DICER Syndrome Increased risk of several cancers: PPB Thyroid/multinodular goiter Cystic nephromas Botryoid RMS Serotoli-Leydig sex cord stromal tumors ```
120
RB1
``` Inherited retinoblastoma Associated with other cancers: - Osteosarcoma - Pineoblastoma (trilateral RB) - Soft tissue sarcomas (Leiomyosarcoma > fibrosarcoma) ```
121
TP53
``` Li-Fraumeni Syndrome Increased cancer risk - Sarcomas - Malignant glioma - Low-hypodiploid ALL - Choroid plexus carcinoma - Adrenocortical carcinoma ```
122
TSC1/TSC2
``` Tuberous Sclerosis Clinical: - Hypopigmented lesions (ash leaf) - Facial angiofibromas - Benign hamartomas (tubers) - Subependymal giant cell astrocytoma (SEGA): MTOR inhibitors - Renal cell carcinoma ```
123
del(5q)
MDS/AML | Therapy related AML after exposure to alkylating agents or radiation
124
del(7q)
MDS/AML | Therapy related AML after exposure to alkylating agents or radiation
125
del(X) | del(Y)
Ph-like ALL: creates a P2RY8-CRLF2 fusion | More common in Hispanic adolescents
126
iAMP(21)
B-ALL Amplification of chromosome 21 leading to >/= 3 copies of RUNX1 Worse outcome
127
t(1;19)
B-ALL | TCF3 (19) and PBX1 (1) translocation (E2A-PBX1)
128
t(1;22)
AMKL | RBM15 (1, aka OTT) and MKL1 (22) translocation
129
t(10;11)
AML KMT2A (11q23) and AF10 (10) Mostly in AML FAB M4/M5
130
t(11;14)
T-ALL | TCRA/TCRD (14) and LMO2 (11) translocation
131
t(11;19)
ALL/AML | KMT2A (11q23) and ENL (19) translocation
132
t(2;5)
ALCL | ALK (2) and NPM1 (5) translocation
133
t(2;8)
Burkitt’s lymphoma/leukemia | cMYC (8) and kappa light chain promoter (2) alternate translocation
134
t(4;11)
Infantile ALL | KMT2A (11q23) and AF4 (4) translocation
135
t(8;22)
Burkitt’s lymphoma/leukemia | cMYC (8) and lambda light chain promoter (22) alternate translocation
136
t(9;11)
Infantile ALL | KMT2A (11a23) and AF9 (9)
137
i(12p)
Germ cell tumors: gain of short arm of chromosome 12
138
RELA fusion
Subtype of supratentorial ependymoma | Poor prognosis
139
Supernumerary ring chromosome (12q13-15)
Parosteal osteosarcoma: low grade, treated with resection alone
140
Burkitt Lymphoma Markers
``` 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
Burkitt Lymphoma Markers
``` 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
DLBL markers
``` Mature B Cell Hodgkin Lymphoma CD19 CD20 CD22 CD79a PAX5 CD10 BCL6 ```
143
DLBL markers
``` Mature B Cell Hodgkin Lymphoma CD19 CD20 CD22 CD79a PAX5 CD10 BCL6 ```
144
DLBL markers
``` Mature B Cell Non Hodgkin Lymphoma CD19 CD20 CD22 CD79a PAX5 CD10 BCL6 ```
145
ALCL Markers
Mature T cell Non Hodgkin Lymphoma NPM-ALK CD30 CD45
146
ALCL Markers
Mature T cell Non Hodgkin Lymphoma NPM-ALK CD30 CD45
147
What is IL2RG associated with?
T-B+ SCID | Normal number of B cells but don’t function properly due to lack of antibody production by T helper cells.
148
What is JAK3 associated with?
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
What is IL7R associated with?
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
What is AK2 associated with?
T-B- SCID Also with NK cell deficiency Severe neutropenia Premature, SGA, sick
151
What is ADA deficiency associated with?
T-B- SCID | Toxic metabolites build up in T, B, and NK cells
152
What is RAG1/RAG2 mutation associated with?
T-B- SCID | This is needed for TCR and BCR recombination but not for NK cells.
153
What is DCLRE1C (Artemis) mutation associated with?
T-B- SCID | It is needed for DNA repair but not for NK cells
154
What does the dilute Russel viper venom time test for?
Lupus anticoagulant cause by an antiphospholipid antibody
155
Inhibitors are more common in which type of hemophilia?
Hemophilia A
156
What is the Steinherz-Beyer algorithm?
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

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