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Down Syndrome Simian Crease, ALL, AML, Alzheimer's, VSD, ASD
Plummer Vinson Syndrome Fe Deficiency --> Atrophic glossitis, esophageal webs, anemia. Assoc w/ Esophageal SCC
CEA Carcinoembryonic Antigen: marker for Colon, Pancreatic, Gastric & Breast Cancer
beta-hCG Hydratiform moles, Choriocarcionomas, Gestational trophoblastic tumor
CA-125 Ovarian epithelial tumors (non-germ cell)
Alk Phos Paget's Disease, Bone Mets, Obstructive billiary disease
TRAP Tartrate-resistant acid phosphate: Hairy B-Cell leukemia
CA-19-9 Pancreatic Adenocarcinoma
HHV-8 kaposis sarcoma, body cavity fluid B-Cell lymphoma
Liver Carcinogens Vinyl Chloride, CCl4, Aflatoxins
Esophagus Carcinogen Nitrosamines (Smoked food)
Bladder Carcinogens Napthalene dyes
Blood carcinogens Alkylating agents
SMALL Cell Lung Carcinoma Paraneoplastic Syndromes ACTH(-like peptide)->Cushing, ADH->SIADH (also brain tumors), Anti-presynaptic Ca channel-> Lambert Eaton (muscle weakness)
Paraneoplastic etiology of Hypercalcemia Breast, Renal Carcinoma, SQUAMOUS Cell Lung Carcinoma
Psammoma Bodies Papillary Thyroid Ca, Serous Ovarian Ca, Mesothelioma, Meningioma
Brain Mets Lung, breast, melanoma
Liver Mets GI, breast, lung >>Primary
Bone Mets Prostate, Breasts >>Primary
8;14 Burkitt Lymphoma
14;18 Follicular Lymphoma
9;22 Chronic Myeloid Leukemia
15;17 Acute Promyelocytic Leukemia
11;22 Ewing Sarcoma
von Hippel Lindenau Cerebellar hemangioblastoma & elevated HCT, Renal hepatic & pancreatic cysts, renal cell carcinoma. Path:VHL LOF-> VEGF not degraded
Berry anneurysm AKA Saccular Aneurysm. Assoc. w/ ADCKD, Marfan, Ehlers Danlos Syndrome
Neurofibromatosis 1 Neural tumors, Cafe au Lait, Pheochromocytomas, Lisch Nodules (brown raised specs on iris) (chr 17-# of letters in neurofibromatosis)
7alpha hydroxylase Converts Cholesterol -> Bile acid
Syringomyelia Hand weakness, cape distribution of DC loss. Associated w/ Chiari Malformation
Ferritin Iron storage protein
Transferrin Iron shuttling protein in plasma
Etiology of Schistocytes Shear stress: ecclampsia/HTN/Pulm HTN, DIC, Thrombotic Thrombocytopenic Purpura, Hemolytic Uremic Syndrome, Prostheses
Hemolytic Uremic Syndrome Endothelial injury -> platelet aggregation/thrombosis -> Vascular obstruction. Triggered by infx, chemicals, cytotkines
Sarcoidosis Hilar lymphadenopathy, skin lesions, ANGII, hypercalcemia, non-caseating lung granulomas
Carcinoid GI enterochromaffin cell tumor (serotonin, etc). Sx:Flushing, Diarhea, wheezing, peripheral edema
c-ANCA+ WEGNER's, Microscopic Polyangitiitis
Henoch-Schonlein Purpura IgA-> glomerular mesangium. Skin, abdominal pain, arthralgias, renal probs.
Tuberous Sclerosis Cardiac Rhabdomyoma (#1kids), SEGA (Seizures MR), Renal Angiomyolipoma. TSC1,2
ras P21, membrane G-Prot. Colon Cancer (onco)
c-myc Burkitts Lymphoma (onco)
bcl-2 Follicular & Undifferentiated Lymphoma (onco)
erb-B2 Tyrosine Kinase. Breast, Ovarian, Gastric Carcinomas. HER-2/neu. (onco)
L-myc Lung tumor
N-myc Neuroblastoma
ret MEN1,2
c-kit GIST
DPC Pancreatic Cancer. 18q. (Supp)
DCC Colon Cancer. 18q (Supp)
APC Colorectal Cancer
P53 Li Fraumeni. 17p. Brain, Breast, Adrenals. (Supp)
RB (13q) Retinoblastoma, Osteosarcoma
BRCA-1 Breast, Ovarian Cancer. 17q. (Supp)
BRCA-2 13q. Male Breast. (Supp)
WT1 Wilms Tumor. 11p. (Supp)
NF1/2 Neurofibromatosis 1/2
p16 Melanoma
p16 Melanoma
S-100 Melanoma, Astrocytoma & neural tumor
Bombesin Neuroblastoma, lung & gastric cancer
Acanthosis Nigricans Visceral malignancy
UC Colonic adenocarcinoma
p16 Melanoma
S-100 Melanoma, Astrocytoma & neural tumor
Bombesin Neuroblastoma, lung & gastric cancer
Acanthosis Nigricans Visceral malignancy
UC Colonic adenocarcinoma
HNPCC Ovarian non-germ cell tumors. Colon Cancer
p-ANCA+ Churg-Straus, Microscopic Polyangitis
Created by: Kyle Tiemeier