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*USMLE* > Genes, serum + surface markers > Flashcards

Genes, serum + surface markers Flashcards

1
Q

Liver Angiosarcoma: surface marker

A

CD31 aka PECAM1; platelet endothelial adhesion molecule, an immunoglobulin for WBC migration thru endothelium

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2
Q

Neural Crest Cell origin marker (examples of tumors)

A

S-100; tumors include Schwannoma and melanoma

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3
Q

AFP

2

A

HCC and germ cell tumors

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4
Q

CA 19-9

1

A

pancreatic (remember the 9s look like a pancreas)

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5
Q

CA 125

1

A

ovarian

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6
Q

CEA

1

A

gastrointestinal (eg, colorectal)

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7
Q

hCG

2

A

choriocarcinoma, germ cell

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8
Q

PSA

A

prostate

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9
Q

ABL

2

A

proto-oncogene in CML and acute lymphoblastic leukemia

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10
Q

BRAF

1

A

PROTO-ONCO in melanoma (V > E mutation, vemurafenib)

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11
Q

HER1

1

A

PROTO-ONCO in squamous cell lung cancer

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12
Q

HER2/neu

2

A

PROTO-ONCO in breast + ovary

= EGFR2

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13
Q

MYC (3 diff MYCs)

1, 1, 2

A

PROTO-ONCO

NMYC in neuroblastoma

LMYC in SCLC

CMYC in Burkitt and diffuse large B cell lymphoma

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14
Q

RAS (2 diff RAS)

3, 2

A

PROTO ONCO

KRAS in lung, colon, pancreas

HRAS in renal cell and bladder cc.

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15
Q

SIS

2

A

PROTO ONCO in astrocytoma and osteosarcoma

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16
Q

TGF-A

2

A

PROTO ONCO in astrocytoma + osteosarcoma

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17
Q

APC / beta catenin

6

A

SUPPRESSOR in stomach, colon, pancreas, desmoids, osteomas, brain tumors

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18
Q

BRCA1 / 2

2

A

SUPPRESSOR in breast + ovary cc.

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19
Q

DCC

2

A

SUPPRESSOR in colon cc.

DCC = deleted in colorectal cancer

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20
Q

NF1

3

A

SUPPRESSOR in neuroblastoma, NF type 1, sarcoma

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21
Q

RB

2

A

SUPPRESSOR in retinoblastoma, osteosarcoma + others

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22
Q

TP53

1 syndrome

A

SUPPRESSOR in most cancers + Li Fraumeni

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23
Q

VHL

syndrome + 1

A

SUPPRESSOR in Von Hippel-Lindau Syndrome + renal cell cancer

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24
Q

WT1

A

SUPPRESSOR in Wilms tumor

nephroblastoma - 3 components: blastema, stromal + epithelial

25
ABL
PROTO ONCO in CML assoc. with BCR-ABL fusion protein from t(9;22) Philly chrom.
26
ALK | 2
PROTO ONCO in large cell lymphoma or NSCLC "anaplastic lymphoma kinase" a transmembrane Tyr kinase
27
RET | 2 syndromes
PROTO ONCO in medullary thyroid cancer or pheochromocytoma in MEN2A/B or more commonly sporadic/familial mut. Tyr kinase receptor in cell cycle reg becomes const. active
28
BCL2 | 1+
PROTO ONCO in follicular lymphoma (+ other B cell lymphomas) antiapoptotic gene that enhances cell survival
29
JAK2 | 3
primary polycythemia essential thrombocythemia primary myelofibrosis cytoplasmic non receptor tyr kinase PROTO ONCO
30
MEN1 | 1
tumor suppressor MEN1 = pituitary adenoma, primary hyperparathyroid + pancreatic neuroendocrine tumor
31
Cytokeratin
marker for EPITHELIUM-derived cancers (form intermediate filaments in most epithelial cells) breast cancer, etc.
32
Vimentin
intermediate filament in MESENCHYMAL tissue marker for SARCOMA
33
Cyclin D gene? function? which cancers (4)?
CCND1 gene; regulates cell cycle OVERexpression in breast, lung + esophageal tumors and some lymphomas
34
AML M3 variant (acute promyelocytic leukemia) genetic abnormality? smear?
t(15;17) puts RARA from chr. 17 with PML from chr. 15 abnormal RAR inhibits promyelocyte differentiation smear shows promyelocytes with AUER RODS (pt has pancytopenia signs/sx too)
35
Burkitt lymphoma genetic abnormality
t(8;14) C-MYC proto-oncogene on chr. 8 with Ig heavy chain region on chr. 14
36
Mantle cell lymphoma genetic abnormality
t(11;14) puts Cyclin D (11) with Ig heavy chain region (14)
37
Chronic Lymphocytic Leukemia assoc. with what deletion?
13q
38
Polycythemia vera mutation
JAK2 V617F (val to phe) makes stem cells more sensitive to GFs
39
Kallman syndrome gene + effect
defect in KAL-1 or FGFR-1 gene for GnRH neuron migration delayed puberty and anosmia
40
Hemochromatosis gene, protein + cellular-level effects
AR; missense mutation of HFE gene (mostly whites) HFE interacts with TRANSFERRIN RECEPTOR on cell surfaces > endocytosis of iron-transferrin complex HFE mutation > impaired cellular uptake + sensing of false low iron levels > enhanced GI iron uptake, via... 1. DMT1 - divalent metal transporter on ENTEROCYTES increases 2. DECREASED HEPCIDIN - liver makes less > increases enterocyte + macrophage FERROPORTIN, promoting release of iron into circ. more iron > HIGH FERRITIN (storage) and HIGH TRANSFERRIN SATURATION (transport)
41
idiopathic pulmonary hypertension gene, type of mutation and effects
BMPR2 (bone morphogenetic protein) inactivating mutation of this PRO-APOPTOTIC protein results in fibroblast and SM cell hyperprolif (medial hypertrophy, intimal fibrosis, luminal narrowing and plexiform lesions)
42
McCune Albright Syndrome gene + signs
GNAS mutation > constitutive Gs activation > excess hormones cafe au lait - irregular, large, unilateral precocious puberty polyostotic fibrous dysplasia - often unilateral other hormone issues
43
MSH2, MLH1 MSH6, PMS2
AD loss of function of tumor suppressors Lynch syndrome colorectal, endometrial and ovarian
44
APC
AD lof of tumor suppressor FAP > colorectal desmoids + osteomas brain tumors
45
precursor B-ALL immunophenotype markers | 3
TdT CD10 usually CD19
46
precursor T-ALL markers | 4 main; 4 others
TdT CD1a, 2 and 5 also CD3, 4, 7, 8 (so all of 1-8 except 6)
47
Anti-Beta2 glycoprotein
assoc. with antiphospholipid syndrome along with anticardiolipin and lupus anticoagulant
48
anti-histone
drug induced SLE
49
anti-U1 RNP
mixed CT disease
50
What are the 2 sjogrens Abs?
Anti-Ro/SSA Anti-La/SSB "RosA worked in the LaB"
51
2 names for DIFFUSE scleroderma Abs
anti-Scl70 anti-DNA topoisomerase I
52
CREST syndrome (limited sclero) Ab
anti centromere Crest - Centromere
53
Polymyositis / Dermatomyositis Abs (3) 2 have two names
1. Anti-Jo1 - against synthetase 2. Anti-Mi2 - against helicase 3. Anti-SRP
54
primary biliary cholangitis Ab
antimitochondrial
55
3 diseases with p-ANCA (and other name for p-ANCA)
anti-MPO 1. Microscopic polyangiitis - smaller vessel form of PAN 2. Churg-Strauss - eos. granulomatosis + polyangiitis 3. ULCERATIVE COLITIS!
56
1 disease with c-ANCA (and other name for c-ANCA)
anti proteinase3 Wegener's
57
Bullous pemph + PV which is which Ab?
Bullous - anti-HEMIdesmosome PV - anti-desmosome (desmoglein)
58
Other than anti-TPO what are 2 Abs in Hashimoto's?
anti-thyroglobulin anti-MICROSOMAL
59
Anti-endomysial and anti-TTG antibodies in Celiac are both IgA only... what third Ab in Celiac is IgA and another form?
anti-deamidated gliadin peptide can be IgA or IgG

*USMLE* (28 decks)

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