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Tumor Markers (JR)

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maxonupi's version from 2016-07-27 19:39

Section

TypeGeneAssociated TumorTumor product
oncogeneablCMLTyrosine kinase
oncogenec-mycBurkitt's lymphomaTranscription Activation
oncogenebcl2 14:18Follicular lymphomaanti-apoptotic molecular
oncoHER2/ne (c-erb2)breast + ovarian carcinomaEGFR
oncogenekrascolon cancer3. GTPase, RESPONSIBLE FOR SIZE INCREASE
oncogeneN-mycneuroblastoma (adrenal neuroblastoma - homer wright pseudorosetts)transcription factor
oncoretMEN2A/2B (Medullary Thyroid Cancer (C- cells), Pheochromocytoma, Oral Neuromas)tyrosine kinase
oncoc-kitgastrointestinal stromal tumorcytokine receptor
oncoPDGFAstrocytomaautocrineloop
TSGRbretinoblastoma, osteosarcomabinded to E2F, blocks G1 --> S phase
TSGp53human cancers, Li-Fraumeni5. transcription factor for p21, blocks G1 --> S phase
TSGBRCA1breast & ovarian cancerDNA repairprotein
TSGBRCA2breast & ovarian cancerDNA repairprotein
TSGp16melanomana
TSGBRAFmelanomana
TSGAPCColorectal Cancer (associated w/ FAP)1. Forming
Chromo - 5
TSGWT1Wilm's tumor (nephroblastoma)n/a
TSGNF 1Neurofi Type 1RAS GTPase activating protein
TSGNF2 Neurofi Type 2merlin (schwannomin) protein, bilateral acoustic schwannoma
TSGDPC4pancreatic canerdeleted
TSGDCCColon Adenocarcinoma4. Final Step Polyp-Adenocarcinoma
Human Multidrug resistanceATP Dependent Transporter↓drug going in &in the cytosolNA
OncogeneAdenomatous polyps2. Cyclooxygenase 2Tx Aspirin
DNA mismatch repairMSH2Colorectal cancerHNPCC & Lynch Syndrome
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Onco

Question Answer
HTLV-1Adult T-cell leukemia, lymphoma
HBV, HCVHepatocellular carcinoma
EBVBurkitt's lymphoma; Hodgkin's lymphoma; nasopharyngeal carcinoma, CNS lymphoma immunocompromised
HPV16 (E6 protein, blocks p53), 18 (E7 protein, blocks pRb); also penile/anal carcinoma &SCC of URT
HHV-8Kaposi's sarcoma; B-cell lymphoma
H. pyloriGastric adenocarcinoma
Schistosoma hematobiumSCC of bladder
Liver fluke (Clonorchis)Cholangiocarcinoma
S. bovisColon cancer
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Chemical carcinogens

Question Answer
Aflatoxinsliver cancer
Vinyl chlorideangiosarcoma of the liver
CCl4Centrilobular necrosis &fatty liver DUE to FREE RADICAL INJURY
Nitrosaminesesophageal &gastric cancer
Cigarette smokeSCC of larynx, SCC & Small Cell carcinoma of lung, renal cell carcinoma, transitional cell carcinoma, pancreatic adenocarcinoma
Asbestosbronchogenic carcinoma >> mesothelioma(Pleural thickening with numerous long slender microvilli & tonofilaments)
1. Dyspnea on exertion 2. LOWER LOBES Interstial pattern 3. Calcified pleural plaques 4. Ferruginous bodies - fusiform beaded rods with a translucent center with iron containing proteinacious material "Purssuian blue"
Arsenicsquamous cell carcinoma of the skin &angiosarcoma
Naphthalene (aniline) dyestransitional cell carcinoma
Cyclophosphamidetransitional cell carcinoma
Alkylating agentsleukemia
Alcoholliver cancer
Benzeneacute leukemia (HL)
Diethylstilbestrol (DES)clear cell adenoma of vagina in babies of moms given drug while prego
Radiationsarcoma, papillary thyroid cancer
Cadmiumprostate
Chromiumlung
Radonlung cancer
SilicaNodular densities on both APICAL LUNGS, Calcified "eggshell" hilar lymphs, birefringent particles surrounded by dense fibers
Coal DustNodual interstial opacities, accumulation of coal dust laden macrophages.
BeryliosisNoncaseating epitheloid granulomas similar to sarcoidosis withhilar adenopathy with nodular opacities.
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neoplasms

Question Answer
Down SyndromeALL(Hippocampus), AML, alzheimers
Xeroderma PigmentosaMelanoma, basal cell carcinoma, &especially squamous cell carcinomas (skin)
AlbinismMelanoma, basal cell carcinoma, &especially squamous cell carcinomas (skin)
Chronic Atrophic Gastritis, pernicious anemia, post-surgical gastric remnantsGastric adenocarcinoma
Tuberous sclerosis (facial angiofibroma, seizures, mental retardation, hypopigmented ashleaf spots)Astrocytoma, angiomyolipoma, &cardiac rhabdomyoma (&renal hamartomas)
Actinic keratosis (solar keratosis, rough sandpaper lesions)Squamous cell carcinoma (skin)
Barret's EsophagusEsophageal adenocarcinoma
Plummer-Vinson syndrome (atrophic glossitis, esophageal web (dysphagia), anemia) all due to iron deficiencySquamous cell carcinoma of the esophagus
Cirrhosis (alcoholic, hepatitis)Hepatocellular CA
Ulcerative ColitisColonic adenocarcinoma
Paget's Disease of the boneSecondary osteosarcoma (at metaphysis w/ "sunburst pattern" = periosteal elevation)
Fibrosarcoma
Immunodeficiency statesMalignant lymphomas
AIDSAggressive malignant lymphomas (non-Hodgkins) &Kaposi's sarcoma (herpesvirus)
Autoimmune diseases (Hashimoto's Thyroiditis, MG)Lymphoma (NHL - B cell lymphomas)
Nuclear Receptor - t3-t4
Acanthosis Nigricans (hyperpigmentation &epidermal thickening)Visceral malignancy (stomach, lung, uterus)
Dysplastic NevusMalignant Melanoma
Radiation exposurePapillary thyroid carcinoma (spread via lymph nodes, orphan annie nuclei, psammoma bodies), leukemia, breast cancer
AchalasiaSquamous cell carcinoma of esophagus
Sjogrens Syndrome (dry eyes/dry mouth)B-cell lymphoma
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Marker

Question Answer
PSAProstate CA, BPH, Prostatitis
Prostatic acid phosphataseProstate CA
CEA (Carcinoembryonic Antigen)Colorectal CA, Pancreatic CA
alpha-fetoproteinHepatocellular carcinoma, Yolk Sac tumor (Nonseminomatous germ cell tumors of the testis), Open neural tube defects
b-hCGHyatidiform moles, Choriocarcinomas, Gestational trophoblastic tumors, 21
CA-125Ovarian - NOT SCREEN, PROGRESSION ONLY. Prevents ovarian cancer with Contraceptives
S-100Melanoma, Schwannomas, Astrocytomas, Neural tumors, Ewing's
ALPMetastases to bone, Obstructive biliary disease, Paget's Disease of Bone
BombesinAdrenal neuroblastoma, Lung & Gastric cancer
TRAPHairy Cell Leukemia (B-cell neoplasm)
CA-19-9Pancreatic Adenocarcinoma
CalcitoninMedullary Thyroid Carcinoma
EstrogenGranulosa theca tumor
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Paraneoplastic

Question Answer Column 3
Small CellACTHCushing's
Small CellADHSIADH
Small CellAntibodies against presynaptic Ca2+ channelsLambert-Eaton Syndrome
Small CellSubacute cerebellar degnerationAnti Yo, anti p/q & anti-hu
Intracranial NeoplasmsADHSIADH
Squamous Cell LungPTHHypercalcemia
Renal CellPTHHypercalcemia
Hodgkin's LymphomaVit 1,25(OH)Vit D- CalcitriolHypercalcemia
Renal Cell CarcinomaEPOPolycythemia
HemangioblastomaEPOPolycythemia
HepatocellularEPOPolycythemia
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antibodies

Question Answer
Anti-ACh receptorMG
Anti-basement membraneGoodpasture
Anti-cardiolipin, lupus anticoagulantSLE/Antiphospholipid syndrome
Anticentromere(CREST Calci/Ray/Esophageal/Sclero/Telangi)
Anti-desmogleinPemphigus vulgaris
Anti-dsDNA/Anti-SmithSLE
Anti-glutamate decarboxylaseType 1 diabetes mellitus
Anti-hemidesmosomeBullous pemphigoid
AntihistoneDrug-induced lupus
Anti-Jo-1/Anti-SRP/Anti-Mi-2Dermatomyositis(Endomysial Inflammatory Infiltration)
Histidyl- tRNA synthetasePolymyositis
Antimicrosomal, antithyroglobulinHashimoto thyroiditis
AntimitochondrialGraft vs Host disease biliary cirrhosis - Autoimmune
Antinuclear antibodies (ANA)SLE, nonspecific
Anti-Scl-70 (anti-DNA topoisomerase I)Scleroderma (diffuse systemic form)
Anti-smooth muscleAutoimmune hepatitis
Anti-SSA, anti-SSB (anti-Ro, anti-La)Sjögren syndrome
Anti-TSH receptorGraves
Anti-U1 RNP (ribonucleoprotein), Anti-snRNP- SplicesomeMixed connective tissue disease - Defective intron removal
c-ANCA (PR3-ANCA) - Antiproteinease 3Granulomatosis with polyangiitis (Wegener's) CP3
p-ANCA (MPO-ANCA)AntimyeloperoxideMicroscopic polyangiitis, Churg-Strauss syndrome
IgA antiendomysial, IgA anti-tissue transglutaminaseCeliac disease (2) - Small intestine biopsy test of choice
Rheumatoid factor, anti-CCPRheumatoid arthritis (CCP is specific)
Anti smith vs Anti-dsDNASLE: Anti-smith dx; anti-dsDNA for following disease activity
Anti-RF IgM, specific to Fc portion of Human IgGRheumatoid arthritis
IgG4 antibodies to phosopholipase A2 receptor(PLA2R)Idiopathic membranous Nephropathy
alpha3-chain of collagen Type IVGoodpasture Syndrome (Oligouria, Hemoptysis)
Transmembrane protein degradeCFTR
ANA or anti nuclear antibodies(Nuclear Basic proteins)Non specific SLE
Anti-PhospholipidSLE, Antiphospholipid syndrome
Monospot + Sheep ErythrocytesInfectious Mononucleosis (EBV - Saliva)
TransthyretinSenile Cardiac
Amylin ProteinDM2
b2 Microglobulin(MHC Class I) proteinDialysis Associated
Polyribitol Ribose PhosphateH. Influenzae
Cysteine-Tellurite agarCornyebacterium
NeurophysinDiabetes Insipidus, Oxytocin & ADH
Neurofilaments/Chromogranin/SynaptophysinSmall Cell Carcinoma
VimentinSarcoma/Connective Tissue
CalcitoninMedullary Thyroid Carcinoma
DesminMuscle Cells
CytokeratinEpithelial cells
Glial Fibriallary acid proteins (GFAP)Astrocytes, schwann cell, neuroglial,ependymal, oligodendrogliomas
PeripherinNeurons stained with Synaptophysin
NeurofilamentsAxons
Nuclear laminsNuclear envelope & DNA
GGTSpecific for Biliary Injury
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Lymph

Question Answer
Superficial InguinalGroin/Anal Canal /Umblicial
Popliteal LymphPosterior Calf
Abdominal AorticTestes
Internal IliacProstate, Inferior portion of Rectum
External IliacProstate, Superior Portion of Rectum
Sacral NodesProstate
MesentericSigmoid Colon
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Visual

Question Answer
AnopiaOptic Nerve - Complete Blindness, Light reflex out on both eyes
Bitemporal HemanopiaLesions of Chiasma/Suprasellar Aneurysm, Pitutary Tumor, Craniopharyngioma
Homonymous HemianopiaOptic Tract - Syphilitic meningitis, TB, Optic Thalamus Tumor, Aneuyrsm of Superior Cerebellar or Posterior Cerebral arteries
SUP HomoquandratanopiaMCA - Lesions of Temporal lobe INF Meyers Loop - Pie roof
INF HomoquandratanopiaMCA - Lesions of Parietal Love SUP Optic Radiations - Pie floor
Macular sparingChoroid Artery arise from ICA
Acute Painless vision loss "pale retina & cherry red spot)Retinal Artery Occlusion
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Hematology

Question Answer Column 3
Bernard Soulier↑BT, ↓PCGp1b -> BIG SUCKERS
Glanzmanns Thrombasthenia↑ BTGpIIB/IIIa -> Defect in platelet PLUG aggregation
Idiopathic Thombocytopenic Purpura↓PC&↑BT, ↑Megakaryocytes, -PT&PTTAnti-GpIIB/IIIA antibodies -> Peripheral platelet destruction. Viral/Pregnant
Thrombotic Thrombocytopenic Purpura(CNS)↓PC&↑BT, ↑Megakaryocytes, -PT&PTTADAMTS 13 - large vWF=Platelet aggregation. Expect Shistocytes & LDH = Microangiopathic Hemolytic Anemia
Hemophilia APTT, -PC&BT(VIII)
Hemophilia BPTT, -PC&BT(IX)
Vitamin KPT , PTT(1972)
HITPF4Thrombosis
DIC↑PT,PTT, d-Dimer↓PC, Fibronogen
VWD↑BT,↑PTT & Abnormal RistocetinDefect platelet to collagen adhesion -> Carry protect Viii, treat with desmopression to release endothelial VWF from WP bodies.
Factor V leidenMutant 5cant be degraded by Protein C
Prothrombin geneMutation in 3 untranslated regionVenous clots
Antithrombin DeficiencyReduced ↑ PTT after heparinInherited
Protein C or S deficiency↓Ability to inactivate V & VIIIRisk of Thrombotic skin necrosis with hemorrhage after warfarin
Fresh frozen Plasma↑Coagulation FactorsDIC, Cirrhosis, warfarin overdose
Blood TransfusionInfections, Transfusion reaction, Iron overloadHypo calcemia due to citrate chelator & hyperkalemia from Lysing of old rbc
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LymphomA

Question Answer Column 3 Column 4 Column 5
Nodular Sclerosing (65-75%)++++ExcellentMost Common, lacunar cells, Primarily young adults
Mixed Cellularity (25%)+++++++IntermediateNumerous Eosinophils from IL-5
Lymphocyte predominant+++++Excellent<35 Year olds
Lymphocyte depleted (Rare)*+PoorOlder males with disseminated disease
Reed steenbergCD30+,CD15BI NUCLEATEbilobed,owl eyeMediastinal mass, Lymphadenopathy
Burkitt LymphomaAdolescents/young adultst8;14Starry Sky sheets of lymphocytes with interspersed macrophages :EBV, Jaws in Africa
Follicular LymphomaAdultst14;18 bcl-2Lymphnode size flacutates, Painless, abdominal massDifficult to cure
Diffuse Large B cell lymphomaOlder adults, 20% childrenLarge lymph node or extranodal massoropharyngeal lymphoid tissueCommon adult Non Hodgkin Lymphoma
Mantle Cell LymphomaOlder Malest11;14Deactivation of Cyclin D gene
g1 to s phase regulation
Poor prognosis, CD5+
Adult T cell lymphomaAdultsHTLV1Adult cutaneous lesion WITH lytic bonelesions -> hyperCalcemiaJapan, WesTafrica, Carribean AGGRESSIVE
Mycosis Fungoides/SEzary syndromeAdultsAdults with cutaneous patches or nodules looking like eczemaCD4+infiltrate dermis &epidermismicroabcess
Acute Lymphoblastic leukemia<5 Down, >5 Teenager, TDT+T12;21(+), 9;22(Bad)Bone marrow in children &mediastinal mass in adolescent malesB-All Cd10,Cd19,Cd20
T-All
AML, AmonoL - Gums(No Auer), AmegaL(No Mpo)65yrs old/ 60T15;17Myeloblasts, Auer Rods(MyeloPeroxidasae+ cytoplasmic inclusions in granulocytes -> DIC)Vitamin ABruising/Bleeding/Thrombocytopenia,Leukocytosis
CML30-60T9;22Low Alkaline Phosphatase(Normal or high leukomoid action), Neutrophils, metamyelocytes, Basophils, SplenomegalyImatinib(Bcr-abl tyrosine Kinase Inhibitor)
CLL>60Smudge cellswarm anitbody autoimmune hemolytic anemia, lymphocytosisSmall lymphocytic leukemia CD5 & 20
Hairy cell LeukemiaAdults CD 11+Bcell tumor in elderlyfilamentous, hairlike projections, pancytopenia, splenomegalyStains TRAP & in red pulp, NO Lymphadenopathy
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Cell

Question Answer
↓ATP synthesisReversible
Cellular Swelling (no ATP impaired Na/K pump)Reversible
Nuclear Chromatin Clumpin(Disaggregation of granular &fibrillar)Reversible
↓or Loss of GlycogenReversible
Fatty ChangeReversible
Myofibril relaxationReversible
Ribosomal Detachment / ↓protein synthesis / Disaggregation of polysomesReversible
Nuclear Pyknosis, Karyolysis, KaryorrhexisIrreversible
Ca influx -> Caspase+Irreversible
Plasma membrane damageIrreversible
Lysosomal RuptureIrreversible
Mitochondrial Permeability(Vacuolization)Irreversible
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Sex

Question Answer
↑TEST & ↑LHDefective androgen receptor
↑TEST & ↓LHTESTtumor,steroids
↓TEST &↑ LH1° hypogonadism
↓TEST & ↓; LHHypogonadotropic hypogonadism
↓Estrogen -> ↑LH&FSHTurner
↓Inhibin -> ↑FSHDysgenesis of seminiferous(XXY)
↓TEST -> ↑LH -> ↑EstrogenAbnormal Leydig cell(XXY)
↓GnRH,FSH,LH,TESTKalmann Syndrome
↓DHT, ↑TEST5A Reductase Deficiency
↓Inhibin=↑FSH, -LH = -TEST, ↓sperm countCryptoorchidism/Orchitis
↑FSH= ↓Inhibin, ↑LH=↓TestosteroneKlinefelter
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FSH(stimulator)+Inhibin B(inhibitor): Sertoli Cells
Question Answer
LH(stimulator)+Testosterone(inhibitor)Leydig Cell
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