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PHO Board Prep > Misc > Flashcards

Misc Flashcards

1
Q

PNH

A

Xp22.1
PIG-A gene

Increased proportion of cells missing glycosylphosphatidylinositol (GPI)- linked protein

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2
Q

1q21.1
RBM8A mutation

A

TAR
Auto recessive

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3
Q

<5% marrow blasts with dysplasia changes
<2% peripheral blasts

A

Refractory Cytopenia of Childhood
RCC
-hgb<10, macrocytic RBC, plt<150, hypocellular BM (5-10%), micro-megakaryocytes

-rarely involves lymph nodes, spleen, or liver

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4
Q

Mild neutropenia/thrombocytopenia
Exocrine pancreatic dysfunction
Marrow: vacuolated precursors and ringed sideroblasts

A

Pearson syndrome
Mitochondrial DNA deletion

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5
Q

BRAF
*KIAA1549
*V600E

A

Low Grade Glioma
KIAA most common for pilocytic astrocytoma

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6
Q

H3 K27M

A

Common histone mutation in DIPG
Or
High grade gliomas

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7
Q

WT1 11p15.5

A

Wilms tumor

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8
Q

WT1 + PAX6

A

WAGR

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9
Q

WT1 exon 8 or 9

A

Denys-Drash
Kidney diffuse mesangial sclerosis
Wilms predisposition

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10
Q

WT1 intron 9 donor splice site

A

Frasier syndrome
Wilms tumor predisposition

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11
Q

DIS3L2 gene
Polydactyl
Fetal ascites

A

Perlman syndrome
Wilms tumor predisposition

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12
Q

ASXL1 gene
Syndromic with intellectual disability

A

Bohring Opitz syndrome
Wilms tumor predisposition

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13
Q

HR neuroblastoma adolescent
Mutation of tumor?

A

ATRX
Chromosome remodeling gene, 44% adolescent and adults

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14
Q

ETV6-NTRK3 gene fusion characteristic in what?

A

Infantile fibrosarcoma
And
cellular congenital mesoblastic nephroma

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15
Q

Germline 22q11.2

A

Mutation of INI -1 (or SMARCB1)
Assoc with rhabdoid tumor

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16
Q

12:15 tumor translocation

A

Cellular congenital mesoblastic nephroma (CMN)

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17
Q

11p13

A

Assoc with WAGR

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18
Q

TP53

A

Anaplastic wilms

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19
Q

Germline mutation chromosome 3

A

Von Hipple-Lindau
Risk for renal cell carcinoma (which is also assoc with FH-tumor predisposition syndrome)

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20
Q

BCOR internal tandem duplicates

A

Clear cell carcinoma of the kidney

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21
Q

Inversion of intron 22
Bleeding

A

Severe hemophilia A
Most common mutation

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22
Q

Iron refractory iron deficiency anemia
Mutation?

A

TMPRSS6
(Homozygous deletions of both Matripase-2 genes)

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23
Q

Hereditary hemochromatosis
Mutations?

A

C282Y - most common HFE mutation

H63D - another HFE mutation but less common

More rare:
TFR2
FPN1
HAMP

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24
Q

Primary erythrocytosis
Mutation?

A

Erythropoietin receptor mutation = EPOR

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25
Q

Pathogenic variants in PTPN11

A

Noonan syndrome

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26
Q

Lynch syndrome
Non-polyposis colon cancer

A

MLH1
PMS2

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27
Q

Pathogenic variant SHDx

A

Pheochromocytoma

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28
Q

DICER1

A

Pleuropulmonary blastoma
Papillary thyroid cancer

Ovarian sex cord tumor +thyroid nodules

Sertoli-Leydig cell tumor and gynandroblastoma

Pineoblastoma
Pituitary blastoma

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29
Q

LiFraumeni Syndrome

A

TP53
Low hypodiploid ALL

Osteosarcoma

Anaplastic embyonal rhabdomyosarcoma

Anaplastic Wilms

Choroid plexus carcinoma

SHH Medulloblastoma

Adrenal corticocarcinoma

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30
Q

NBEAL2

A

Grey platelet syndrome

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31
Q

Somatic mutation assoc with CLOVES

A

PIK3CA

Also seen in Klippel-Trenaunay, and fibro-adipose vascular anomalies

CLOVES= congenital lipomatous overgrowth, vascular malformations, epidermal nevi, skeletal/spine abnormalities

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32
Q

AKT

A

Proteus syndrome

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33
Q

H3.3 G34R

A

High grade glioma less common histone mutation
Typically in cerebral hemispheres, teenagers and young adults

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34
Q

Medulloblastoma
WNT

A

Excellent prognosis
Genetic aberration: monosomy 6, nuclear beta-catenin

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35
Q

Medulloblastoma
Group3

A

Poor prognosis
Genetic aberration: i17q, MYC amplification

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36
Q

Medulloblastoma
SHH

A

Fair prognosis; poor of assoc with TP53
Genetic aberration: PTCH1/SMO/SUFU, GLI2

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37
Q

Germ cell tumors

A

Germinomas = non-secreting

Non-germinomatous germ cell tumors = secreting, worse outcome. +AFP and beta-HCG

Suprasellar/pituitary or pineal or both

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38
Q

Supracellar/pituitary tumor
Mixed solid&cystic mass
Squamous epithelium lining cystic cavity - often containing calcium and keratin

A

Craniopharyngioma

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39
Q

LCH molecular pathogenesis

A

BRAF-V600E

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40
Q

HLH cytotoxicity genes

A

PRF1
UNC13D
STX11
RAB27A
STXBP2
AP3B1
MUNC13-4

Auto recessive, familial HLH assoc with homozygous defects

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41
Q

HLH EBV assoc

A

Assoc with XLP: SH2D1A = XLP 1, XIAP, BIRC4 = XLP 2

More recently assoc with X-MEN syndrome (MAGT1)

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42
Q

Osteosarcoma predispositions

A

RB1
TP53
RECQL4 - DNA helicase/Rothmund-Thomson syndrome

Bone damage
NOTCH signaling accelerates

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43
Q

RB1 gene chromosome

A

Chromosome 13q14

A tumor suppressor gene

Assoc with MYCN amplification has worse outcomes

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44
Q

Genetic assoc with mediastinal germ cell tumor

A

Klinefelter syndrome (47XXY)

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45
Q

Genetic syndromes assoc gonadoblastoma/dysgerminoma

A

Swyer syndrome (46XY)
Turner syndrome (47XO)
Fraiser syndrome (WT1)

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46
Q

Germ cell tumors typically assoc with age <11yrs

A

Teratoma or yolk sac tumors

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47
Q

Category of Germinoma

A

Seminomas (testes)
Dysgerminomas (ovary) -may have elevated PLAP
Germinoma (extragonadal)

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48
Q

Category of Non-germinomas

A

Yolk sac - components of embryonic and extra embryonic endoderm

Embryonal carcinoma - undifferentiated cells

Choriocarcinoma - trophoblastic differentiation

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49
Q

GCT assoc with elevated serum AFP

A

Yolk sac ++++
Embryonal carcinoma +/-
Immature teratoma +/-

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50
Q

GCT assoc with elevated bHCG

A

Choriocarcinoma ++++
Embryonal carcinoma +/-

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51
Q

Ovarian GCT

A

Juvenile granulosa cell tumor - precocious puberty (ovarian-young children)

Sertoli-Leydig tumor - amenorrhea and or virilization (ovarian-adolescent)

52
Q

Extragonadal tumor
Sacrococcygeal tumor’s presentation

A

Constipation, urinary retention, refusal to sit, unilateral swelling and buttock discoloration

53
Q

Choriocarcinoma syndrome

A

Hemorrhaging into lung Mets or CNS
Very high bHCG >100,000
*always image brain

Tx: chemo (cisplat/etoposide, omit bleomycin)

54
Q

For ovarian GCT concerns, obtain what to rule out stromal cell tumor?

A

Inhibin B

55
Q

Normal levels of AFP and bHCG

A

AFP newborns >40,000 ng/mL
AFP adult < 10 (reached by 8-12mo.)

bHCG <5 IU/mL

56
Q

Ovarian sex-cord tumor plus hyperpigmented macules

A

Peutz-Jegher syndrome
STK11 gene

“STicKs and stones (mcjagger)”

57
Q

Juvenile granulosa cell tumor
Gene and syndrome

A

IGH1 & IGH2
Ollier disease (enchondromatosis) and
Mafucci syndrome (enchondromatosis + hemangiomas)

58
Q

Hepatoblastoma mutations

A

WNT pathway: CTNNNB1 or APC

NFE2L2 (NRF2) mutation - worse prognosis

59
Q

Hepatoblastoma clinical associations

A

Elevated AFP
Thrombocytosis due to HB cells secreting IL-1B to produce IL-6 -> growth factor secretion and thrombopoietin

60
Q

Hepatoblastoma pathology

A

Epithelial (fetal+embryonal)

Pure fetal - excellent prognosis

Small cell undifferentiated- poor prognosis, low AFP <100, assoc with 22q11 (INI1/rhabdoid tumors), neg INI1 immunostaining

61
Q

AFP in in fibrolamellar variant of HCC

A

Low or normal

62
Q

Hepatocellular carcinoma risk factors

A

Congenital: tyrosenemia, biliary cirrhosis, glycogen storage disease, alpha1 antitrypsin def, hemochromatosis

Environmental: hep B&C, alcohol, anabolic steroids, aflatoxin, carcinogens

63
Q

High risk of developing medullary thyroid carcinoma

A

MEN2A
Screen with calcitonin

MEN2B with RET mutation should have prophylactic thyroidectomy in first months of life

64
Q

Germline abnormalities assoc with Neuroblastoma

A

Mutations in ALK *bilateral or multifocal disease

Or PHOX2B *neurologic abnormalities like hirshsprung and central hypoventilation

Both auto dominant

65
Q

SMARCA4 assoc cancer

A

Small cell carcinoma of the ovary
(Rhabdoid tumor predisposition type2)

66
Q

Examples of stromal sex cord tumors

A

Sertoli-Leydig
Juvenile granulosa cell tumors

Inhibin +

67
Q

Metastatic bone lesions, BCOR, histology showing cords and nests of pale stained tumor cells with abundant extra cellular matrix separated

A

Clear cell carcinoma of the kidney

68
Q

Nuclear expression of TFE3 and previous hx of cancer in patient with new renal mass

A

Translocation associated Renal cell carcinoma
The Xp11 translocation is found in the tumor, not Germline

69
Q

Plasminogen activator inhibitor type 1 (PAI-1)

A

Inhibits plasminogen activator which promotes clotting so in it’s absence leads to excessive breakdown of clots - most commonly in the mucus secretions
-think of this when aminocaproic acid (an antifibrinolytic) really helps with epistaxis

70
Q

VWD type where there is discrepancy between vWF antigen (normal) and vWF activity (very low)

A

Type 2M

(Ratio of 0.5 or less)
Test for mutation in exon 28 of the vWF gene
“Missing” the ability to bind to platelets -loss of function

Desmopressin is not helpful bc number is fine, it’s just dysfunctional. Treat with vWF concentrates, aminocaproic acid, hormone therapy

71
Q

Thrombin time

A

Assesses the presence and function of fibrinogen

  • add thrombin to plasma and measure time to clot. If prolonged, then fibrinogen is abnormal
72
Q

End portion of the coagulation cascade

A

Prothrombin —(Xa)—> thrombin

Fibrinogen—(thrombin)—> fibrin

Fibrin + XIIIa = stable clot

*XIII—(thrombin)—> XIIIa

73
Q

Hemophilia A
What to give if your ER doesn’t have factor VIII concentrate?

A

Desmopressin - to increase factor VIII as quickly as possible

FFP only has 1 IU/mL of factor VIII (10mL/kg infusion = 10% increase… ie not much). Cryo would be better

74
Q

Clotting Factors not made in the liver

A

V - megakaryocytes
VIII - endothelial cells
vWF - endothelial cells

75
Q

Thrombin prohemostatic mechanisms

A

Activates procoagulant factors (V, VIII, XI)
Activates antifibrinolytic factors (factor XIII, thrombin-activatable fibrinolysis inhibitor TAFI, activates platelets, converts fibrinogen to fibrin)

76
Q

3 gene deletion alpha-thalassemia

A

Hb H disease
Visualized by supravital RBC staining such as brilliant cresyl blue (BCB)

77
Q

Side effects of iron chelators

A

Neutropenia
Hearing loss
Growth failure
Cataract
Osteoporosis

78
Q

Cryo contains…

A

Fibrinogen
Factor VIII
Factor XIII
vWF

79
Q

Prothrombin complex concentrate contains…

A

Factors II
IX
X
+/- VII

80
Q

Why saline wash RBCs before transfusion?

A

To remove potassium

Or give fresh RBCs and not stored

81
Q

Epithelioid hemangioendothelioma (EHE)

A

WWTR1-CAMTA1 gene fusion (most common)

Epithelioid lesions arranged in nests, strands, trabecular patterns with I frequent vascular space

Malignant vascular tumor
Tx: obs, surgery, targeted therapy, sirolimus, MEK inhibitors

82
Q

Pseudomyogenic hemangioendothelioma (PMH)

A

Loose fascicles of plump spindle and Epithelioid cells with abundant eos, cytoplasm, and coexpression of keratin and endothelial markers

?t(7;19)
serpine1-FOSB fusion gene

83
Q

May-Hegglin anomaly

A

Mutation MYH9 (myosin heavy chainA)

Macrothrombocytopenia, neutrophils with dohle-like cytoplasmic inclusions

Bleeding out of proportion to the plt count
+high frequency hearing loss, nephritis, cataracts

84
Q

Deficiency of the enzyme
B-Glucocerebrosidase

A

Gaucher

85
Q

C-Mpl gene mutation

A

Congenital amegakaryocytic thrombocytopenia

Progress to pancytopenia within first few lives

1p34

86
Q

Large plate thrombocytopenia

A

Bernard soulier
Grey platelets
MYH9

87
Q

Platelet agg results

A

Bernard Soulier unable to interact with ristocetin/vWF bc glycoprotein 1b-IX causes plt adherence to vascular endothelium via vWF

Glanzmann thrombasthenia lack IIb-IIIa which binds Plts to fibrinogen -globally low except ristocetin

Absence of dense granules results in lack of 2nd wave to ADP and Epi (hermansky-pudlak)

88
Q

Neonatal alloimmune thrombocytopenia

A

Maternal antibodies against paternally derived antigen expressed by the infant platelets (HPA-1a most common)

Keep plt >30K. Give maternal plts or random donor+IVIG

89
Q

Neonatal autoimmune thrombocytopenia

A

Maternal history of ITP or thrombocytopenia

Less bleeding risk

Antibodies against common antigens on plt surface

90
Q

Increased aggregation to low-dose ristocetin on plt agg

A

Platelet-type vWD and type 2B

91
Q

Congenital TTP tx

A

FFP

92
Q

Hermansky -Pudlak syndrome

A

Auto recessive
Lack of dense granules in the platelets (ATP, ADP, serotonin, calcium - no dense granules in “Hermona’s C.A.S.A”) -absent 2nd wave on plt agg for ADP

Assoc with oculocutaneous albinism, pulm fibrosis, strabismus, nystagmus

93
Q

Contents of alpha granules

A

Fibrinogen, platelet factor 4, vWF, thrombospondin

94
Q

Tx of bleeding secondary to uremia?

A

Desmopressin

95
Q

Grey platelet syndrome

A

Auto recessive
Macrothrombocytopenia, splenomegaly, mild bleeding diathesis
Can be assoc with myelofibrosis

Absence of alpha granules

Plt agg defects with epi&ADP

96
Q

Sickle cell mutation on beta globin

A

Beta globin 6: glutamic acid to valine

SC: bg6: glutamic acid to lysine

97
Q

Other hemoglobinopathy beta globin mutations

A

Hgb E: bg26: glutamic acid to lysine

Hgb D (punjab): bg121: glutamic acid to glutamin

Hgb O (Arab): bg121: glutamic acid to lysine (hgb electrophoresis: migrates with hgbC)

98
Q

SCD medication:
HU
Endari
Oxbryta (Voxelotor)
Crizanlizumab

A

HU: ribonucleotide reductive inhibitor. increases Hb F (dlt neutropenia)

Endari: L-glutamine. Antioxidant. No change in labs

Oxbryta (voxelotor): inhibits HbS polymerization, increases O2 affinity. Increases hgb

Adakveo (crizanlizumab): inhibits p-selectin preventing wbc/rbc/plt from sticking to each other. No changes in labs. IV wk0, wk2, q4wks after

99
Q

Hemoglobin Lepore

Hemoglobin Constant Spring

A

Lepore: fusion btw delta (HbD) and beta (HbB)

Constant Spring: mutation in alpha globin termination codon leading to abnormal chain termination. Hgb electrophoresis has Very Slow migrating hgb

100
Q

hgb electrophoresis values in thalassemia

A

Beta thal trait: hgb F nml-incr (1-10%)
Hgb a2 incr (3-10%)

Alpha thal trait: hgb F nml (0-2%)
Hgb a2 nml-decr (0-2.5%)

Iron def: hgb F nml (0-2%)
Hgb a2 nml-decr (0-2.5%)

101
Q

Alpha thal

A

aa/aa normal
aa/a- Silent carrier

aa/- - Trait
a-/a- Trait

  • -/a- Hgb H dz
  • -/a^cs,a Hgb H-constant spring
  • -/- - Hydrops fetalis
102
Q

Alpha trait with excess gamma in neonate

A

Hgb Barts (gammax4) gamma 3-8%

103
Q

Beta thal

A

Normal: b/b
B thal trait: b/b0; b/b+

B thal intermedia: b+/b+; b+/b0;
bE/b+; bE/b0

B thal major (Cooley’s anemia): b0/b0
Newborn screen: only F pattern

104
Q

Mentzer index

A

MCV / RBC

< 13 = thal
> 13 = iron def

105
Q

CML phases

A

Chronic phase: high wbc, “normal” maturation, small %myeloblasts, splenomegaly, minimal symptoms
Tx with a TKI

Accelerated phase: 10-30% blasts in PB/BM, Plt < 100k,

106
Q

JMML poor prognostic features

A

> 1yr, > 9% monocytes, >2% peripheral blasts, PLt< 50K, elevated hgb, monosomy 7
AML-like
Worse prognosis

107
Q

JMML

A

Elevated fetal hgb

Hypersensitivity of monocytes in response to GM-CSF

Many myeloid precursors on smear

Monocytosis with high WBC count (>100k)

Rarely > 20% BM blasts

Normal cytogenetics most common

108
Q

Kaposiform-hemangioendothelioma

A

Assoc with Kasabach-Merritt phenomenon = coagulopathy caused by the lesion (hypogibrinogenemia and thrombocytopenia)
K-M is also associated with Tuffted angioma

Skin is tense, deep purple, shiny
Prox-1 positive stain
Tx: sirolimus, vincristine, steroids

109
Q

Inheritance pattern of IL2RG SCID

A

X-linked
(Sister HCT donors are fine)

110
Q

Types of SCID

A

ADA = T-,B-,NK-
RAG1 = T-,B-,NK+
IL2RG (common gamma chain) = T-,B+

111
Q

Congenital hemangioma

A

Glut1 negative
GNAQ somatic mutation
Present at birth, fully formed - involution is variable (rapid, non, partial)
Can have a transient consumptive coagulopathy (thrombocytopenia and hypofibrinogenemia)

“Halo” present

112
Q

Infantile hemangioma

A

Always GLUT-1 positive

113
Q

Angiosarcoma

A

20% can be glut-1 positive
Reports of transformation of hemangiomas of the liver and lymphatic anomalies

Very aggressive
Firm, purpuric, mass-like

114
Q

Capillary Malformations

A

Become darker with age
Ex: Sturge Webber syndrome
Tx: pulsed dye laser, ASA, mTor inhibitors

Somatic mutations: GNAQ, GNA11

115
Q

Venous malformations

A

Bluish, soft compressible
Pain, Coagulopathy

Localized intravascular coagulopathy: increased Ddimer, low fibrinogen, low/normal plts

Syndrome: BRBN
TIE-2 mutation
Small percentage PIk3CA
Tx: DOAC, sirolimus, pik3 inhib (Alpelisib)

116
Q

Gorham Stout Dz

A

Lymphatic anomalies
Hallmark: progressive bony disease with destruction through the cortext

Tx: mTor inhib, MEK inhib
KRAS

117
Q

Kaposiform lymphangiomatosis

A

Areas of spindle cells
Coagulopathy
Multifocal
Poor prognosis

NRAS, CBL, PIk3CA
Tx: sirolimus, VCR, steroids

118
Q

PIk3CA related overgrowth spectrum (PROS)

A

CLoVeS
klippel-Trenaunay
Megalocephaly-capillary malformation
Fibroadipose vascular anomaly
Fibroadipose hyperplasia
Hemihyperplasia-multiple lipomatosis syndrome

119
Q

Fanconi inheritance

A

Auto recessive
Except Fanc B which is X-linked

120
Q

SDS malabsorption testing by age

A

> 3yrs - pancreatic isoamylase
< 3 yrs - trypsinogen

121
Q

Another name for sIL-2 receptor test

A

Soluble CD25

To test for HLH

122
Q

WAS gene

A

Xp11.23
X-linked thrombocytopenia and WAS

123
Q

CGD mutations

A

Most common mutated NADPH subunit is gp91phox (CYBB gene) - the only X-linked form

2nd MC = p47phox (NCF1 gene) - auto recessive

Less common, all auto recessive: p22phox, p67phox, p40phox

CGD testing: dihydrorhodamine 123 or nitroblue tetrazolium test

124
Q

Dyskeratosis congenita patterns of inheritance

A

X-linked recessive- DKC1, Xq28 and encodes dyskerin

AutoDominant- TERC, TERT, TINF2

Auto recessive- CTC1, RTEL1, TERT, TERC, NOP10, NHP2, WRAP53

Or can be sporadic

125
Q

Hypereosinophilic syndrome (HES)

A

Excess of IL-5
DVT is a common complication and rash

Abs Eos 1500+
Idiopathic or assoc with underlying trigger

Typically Tx underlying cause or Tx with steroids

PHO Board Prep (9 decks)

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