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

Genes, serum + surface markers Flashcards

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USMLE® Step 1 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
Q

ABL

A

PROTO ONCO in CML

assoc. with BCR-ABL fusion protein from t(9;22) Philly chrom.

26
Q

ALK

2

A

PROTO ONCO in large cell lymphoma or NSCLC

“anaplastic lymphoma kinase” a transmembrane Tyr kinase

27
Q

RET

2 syndromes

A

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
Q

BCL2

1+

A

PROTO ONCO in follicular lymphoma (+ other B cell lymphomas)

antiapoptotic gene that enhances cell survival

29
Q

JAK2

3

A

primary polycythemia
essential thrombocythemia
primary myelofibrosis

cytoplasmic non receptor tyr kinase PROTO ONCO

30
Q

MEN1

1

A

tumor suppressor

MEN1 = pituitary adenoma, primary hyperparathyroid + pancreatic neuroendocrine tumor

31
Q

Cytokeratin

A

marker for EPITHELIUM-derived cancers (form intermediate filaments in most epithelial cells)

breast cancer, etc.

32
Q

Vimentin

A

intermediate filament in MESENCHYMAL tissue

marker for SARCOMA

33
Q

Cyclin D

gene? function? which cancers (4)?

A

CCND1 gene; regulates cell cycle

OVERexpression in breast, lung + esophageal tumors and some lymphomas

34
Q

AML M3 variant (acute promyelocytic leukemia)

genetic abnormality?
smear?

A

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
Q

Burkitt lymphoma genetic abnormality

A

t(8;14) C-MYC proto-oncogene on chr. 8 with Ig heavy chain region on chr. 14

36
Q

Mantle cell lymphoma genetic abnormality

A

t(11;14) puts Cyclin D (11) with Ig heavy chain region (14)

37
Q

Chronic Lymphocytic Leukemia

assoc. with what deletion?

A

13q

38
Q

Polycythemia vera mutation

A

JAK2

V617F (val to phe) makes stem cells more sensitive to GFs

39
Q

Kallman syndrome gene + effect

A

defect in KAL-1 or FGFR-1 gene for GnRH neuron migration

delayed puberty and anosmia

40
Q

Hemochromatosis

gene, protein + cellular-level effects

A

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
Q

idiopathic pulmonary hypertension

gene, type of mutation and effects

A

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
Q

McCune Albright Syndrome

gene + signs

A

GNAS mutation > constitutive Gs activation > excess hormones

cafe au lait - irregular, large, unilateral
precocious puberty
polyostotic fibrous dysplasia - often unilateral

other hormone issues

43
Q

MSH2, MLH1

MSH6, PMS2

A

AD loss of function of tumor suppressors

Lynch syndrome

colorectal, endometrial and ovarian

44
Q

APC

A

AD lof of tumor suppressor

FAP > colorectal
desmoids + osteomas
brain tumors

45
Q

precursor B-ALL immunophenotype markers

3

A

TdT
CD10

usually CD19

46
Q

precursor T-ALL markers

4 main; 4 others

A

TdT
CD1a, 2 and 5

also CD3, 4, 7, 8

(so all of 1-8 except 6)

47
Q

Anti-Beta2 glycoprotein

A

assoc. with antiphospholipid syndrome

along with anticardiolipin and lupus anticoagulant

48
Q

anti-histone

A

drug induced SLE

49
Q

anti-U1 RNP

A

mixed CT disease

50
Q

What are the 2 sjogrens Abs?

A

Anti-Ro/SSA

Anti-La/SSB

“RosA worked in the LaB”

51
Q

2 names for DIFFUSE scleroderma Abs

A

anti-Scl70

anti-DNA topoisomerase I

52
Q

CREST syndrome (limited sclero) Ab

A

anti centromere

Crest - Centromere

53
Q

Polymyositis / Dermatomyositis Abs (3)

2 have two names

A
  1. Anti-Jo1 - against synthetase
  2. Anti-Mi2 - against helicase
  3. Anti-SRP
54
Q

primary biliary cholangitis Ab

A

antimitochondrial

55
Q

3 diseases with p-ANCA (and other name for p-ANCA)

A

anti-MPO

  1. Microscopic polyangiitis - smaller vessel form of PAN
  2. Churg-Strauss - eos. granulomatosis + polyangiitis
  3. ULCERATIVE COLITIS!
56
Q

1 disease with c-ANCA (and other name for c-ANCA)

A

anti proteinase3

Wegener’s

57
Q

Bullous pemph + PV

which is which Ab?

A

Bullous - anti-HEMIdesmosome

PV - anti-desmosome (desmoglein)

58
Q

Other than anti-TPO

what are 2 Abs in Hashimoto’s?

A

anti-thyroglobulin

anti-MICROSOMAL

59
Q

Anti-endomysial and anti-TTG antibodies in Celiac are both IgA only…

what third Ab in Celiac is IgA and another form?

A

anti-deamidated gliadin peptide

can be IgA or IgG

*USMLE* (28 decks)

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