Term
| Diseases of the oral cavity are divided into two categories, what are they and which one will we be focusing on? |
|
Definition
-the teeth
-the soft tissues (including the salivary glands); we're focusing on this one |
|
|
Term
| What is another name for an aphthous ulcer? |
|
Definition
|
|
Term
| Describe an aphthous ulcer. How common are they? Where are they usually found? |
|
Definition
-small, painful, shallow ulcer
-extremely common
-soft palate, gums, border of tongue |
|
|
Term
| What is the etiology of an aphthous ulcer? What usually triggers them? What is the prognosis? |
|
Definition
-unknown etiology
-often triggered by stress
-usually resolve within a few weeks |
|
|
Term
| What is an extremely common manifestation of a herpesvirus infection? |
|
Definition
|
|
Term
| The herpesvirus infection can manifest as what on where? |
|
Definition
| cold sores, fever blisters on lips, nasal openings |
|
|
Term
| Which strain of the herpesvirus causes herpetic stomatitis? |
|
Definition
|
|
Term
| Can a person with herpesvirus infection get recurrent fever blisters? |
|
Definition
| yes, the virus is dormant in the nerve ganglia and can recur |
|
|
Term
| How is the herpesvirus transmitted? |
|
Definition
|
|
Term
| What percentage of the population is infected with herpesvirus? |
|
Definition
| 75% of the pop. and it is asymptomatic in most people |
|
|
Term
| What is oral candidiasis? What is another name for it? |
|
Definition
-yeast infection of the mucus membrane lining the mouth and tongue
-"thrush" |
|
|
Term
| Describe how thrush presents: what does it look like? Who is the typical patient? |
|
Definition
-white plaque like membrane, lesions
-occurs only in individuals where normal protective mechanisms are compromised (immunodeficiency, CA, DM, antibiotic or glucocorticoid therapy, denture wearers) |
|
|
Term
| What do you need to watch in immunocompromised pt's with thrush? |
|
Definition
| it can spread and become life threatening |
|
|
Term
| What are three oral lesions typically associated with AIDS? |
|
Definition
Herpesvirus infection
oral candidiasis
hairy leukoplakia |
|
|
Term
| What is hairy leukoplakia: who is the typical pt? what does it look like? what virus causes it? what can it call attention to? |
|
Definition
-virtually only in people with HIV
-white confluent patches, epidermal thickening
-caused by Epstein-Barr virus infxn
-may call attention to HIV infection in an otherwise undiagnosed pt |
|
|
Term
| How is hairy leukoplakia differentiated from thrush? |
|
Definition
| it cannot be scraped off, thrush can be scraped off |
|
|
Term
| What is Kaposi Sarcoma (KS)? What causes it? |
|
Definition
| low grade malignant tumor caused by KS-associated herpesvirus infection |
|
|
Term
| Describe what KS in the oral cavity looks like. What percentage of KS patients have oral masses? Who is the typical patient? |
|
Definition
-red/purple nodular masses in lining of oral cavity (and elsewhere)
-more than 50% of KS pt's have oral lesions
-AIDS patients (usually seen in less than 1% due to antiretroviral therapy) |
|
|
Term
| What is a leukoplakia? Can it be scraped off? What is a major RF? Do they transform to CA? |
|
Definition
-a white patch of plaque caused by epidermal thickening or hyperkeratosis
-cannot scrape it off
-smoke, alcohol abuse
-3-25% transform to CA |
|
|
Term
| What is an erythroplakia? Do they transform to CA? |
|
Definition
red plaque that appears distinct from surrounding mucosa
>50% transform to CA |
|
|
Term
| What are two main RFs for oral cancer? What is the average age at diagnosis? What is the histology of most oral cancers? THey make up what percentage of all cancers in the uS? |
|
Definition
-smoking and chronic alcoholism
-55-60 yoa
-squamous cell carcinoma
-3% but many have already metastasized when dx |
|
|
Term
|
Definition
| inflammation of the salivary glands |
|
|
Term
| What are three causes of sialadenitis? |
|
Definition
-bacterial infection (staph and strep)
-viral infxn (mumps)
-autoimmune rxn (Sjorgen syndrome) |
|
|
Term
| What are the 2 most common symptoms of sialadenitis? |
|
Definition
| pain and enlargement of the salivary glands |
|
|
Term
| How common are salivary gland tumors? What is the peak incidence age? |
|
Definition
|
|
Term
| What are the two types of salivary gland tumors? Which is the most common? |
|
Definition
-pleomorphic adenoma (most common)
-warthin tumor |
|
|
Term
| Is a pleomorphic adenoma benign or malignant? What is its growth rate? If it gets too large what can happen? |
|
Definition
-benign
-slow growing
-may compress facial structures |
|
|
Term
| Where are warthin tumors most often found (what gland)? Are they benign or malignant? |
|
Definition
-rare and benign
-usually only in parotid |
|
|
Term
| What is the treatment of choice for salivary gland tumors? What is the prognosis? |
|
Definition
-surgery
-recurrences are common, otherwise good |
|
|
Term
| What are 4 symptoms commonly seen in most diseases of the esophagus? |
|
Definition
-Dysphagia (difficulty swallowing; muscle/nerve dysfunction)
-Heartburn (retrosternal burning pain; regurgitation of gastric contents into the lower esophagus)
-Hematemesis (vomiting blood)
-Melena (blood in stool) |
|
|
Term
| What is the color of melena? |
|
Definition
| usually a black, tarry stool since the blood has been digested before its eliminated |
|
|
Term
|
Definition
| Incomplete relaxation of the lower esophageal sphincter in response to swallowing . it is a functional obstruction with proximal dilatation |
|
|
Term
| What is the etiology of achalasia? |
|
Definition
| myenteric ganglion cels in body of esophagus are reduced or absent |
|
|
Term
| What are 3 symptoms of achalasia? What is the cause? It is associated with an increased risk for what? |
|
Definition
-dysphagia, regurgitation, aspiration
-cause is unknown
-SCC (due to the excessive irritation and damage of the esophagus) |
|
|
Term
|
Definition
| a separation of muscles of esophagus and diaphragm with protrusion of stomach above the diaphragm |
|
|
Term
| What are the two patterns associated with a hiatal hernia? |
|
Definition
| sliding (95%) and rolling |
|
|
Term
| Which type of hiatal hernia is common and usually asymptomatic? |
|
Definition
|
|
Term
| What does a large hiatal hernia cause? |
|
Definition
| heartburn, nausea, reflux esophagitis |
|
|
Term
| What is the cause of hiatal hernia? |
|
Definition
|
|
Term
| What are 2 complications associated with hiatal hernia? |
|
Definition
|
|
Term
| What is Mallory-Weiss syndrome? |
|
Definition
| longitudinal teras in the esophagus at the gastroesophageal junction |
|
|
Term
| What does Mallory-Weiss syndrome cause? |
|
Definition
| severe retching, vomiting (chronic alcoholics) |
|
|
Term
| What are 4 symptoms of mallory-weiss syndrome? |
|
Definition
| -bloody stools, vomiting bright red blood, pain, infection |
|
|
Term
| What is the prognosis for Mallory Weiss syndrome? |
|
Definition
| usually heals without surgery |
|
|
Term
| What are esophageal varices? |
|
Definition
| dilated submucosal veins in lower esophagus |
|
|
Term
| Why are esophageal varices so dangerous? |
|
Definition
| asymptomatic until rupture, then life-threatening bleed |
|
|
Term
| What is often the causative agent with esophageal varices? |
|
Definition
| portal HTN (often from alcoholic liver disease) |
|
|
Term
| 65% of pt's with __________ have esophageal varices. 30% __________ during the first episode, most recur within 1 year |
|
Definition
|
|
Term
| What are two treatment forms for esophageal varices? |
|
Definition
| sclerotherapy, balloon tamponade |
|
|
Term
| What is esophagitis? Who is the typical patient? What are most cases in the US due to and What are two examples of causative factors this? |
|
Definition
-inflammation of the esophageal mucosa
-usually in adults over 40 you
-most cases in US due to GERD
-caused by many factors, including: sphincter malfunction of hiatal hernia |
|
|
Term
| What is a symptoms of esophagitis? |
|
Definition
|
|
Term
| What are 3 examples of symptoms in a severe case of esophagitis? |
|
Definition
-bleeding
-development of stricture
-Barrett esophagus |
|
|
Term
| WHat is barrett esophagus? |
|
Definition
| replacement of distal esophagus stratified squamous mucosa with metaplsatic GI-like mucosa (adaptation) due to long-standing GERD |
|
|
Term
| What sex is more often affected with Barrett Esophagus? |
|
Definition
|
|
Term
| What are two complications with Barrett Esophagus? Pt's are at a 30-100x increased risk for what? |
|
Definition
-ulcer and stricture
-adenocarcinoma |
|
|
Term
| What is recommended for pt's with barrett esophagus to identify high grade (and high risk) dysplasia? |
|
Definition
| periodic endoscopy and biopsies |
|
|
Term
| What are the two types of esophageal carcinomas covered in this lecture? |
|
Definition
|
|
Term
| What is the most common esophageal CA in the US? In the world? |
|
Definition
|
|
Term
| WHich esophageal cancer has a greater prevalence in blacks than whites? The other way around? |
|
Definition
|
|
Term
| What are the risk factors for esophageal adenoma? |
|
Definition
|
|
Term
| WHat are the RFs for esophageal SCC? |
|
Definition
| esophagitis, smoking, alcohol, genetics |
|
|
Term
| Where does esophageal adenoma usually occur? |
|
Definition
| distal 1/3 of the esophagus |
|
|
Term
| Where does esophageal SCC usually occur? |
|
Definition
| middle 1/3 of the esophagus |
|
|
Term
| What are the symptoms for both esophageal adenoma and SCC? |
|
Definition
| insidious onset and late obstruction |
|
|
Term
| What is the difference between vomited blood originating in the esophagus or lungs and that originating in the stomach? |
|
Definition
-bright red from lungs and upper GI
-from stomach: blood has congealed and turned brown: "coffee grounds" |
|
|
Term
| What are the symptoms of stomach diseases? |
|
Definition
| same as those for the esophageal disease: heartburn, epigastric pain, hematemesis, melena |
|
|
Term
| What is chronic gastritis? What is it caused by? What are the symptoms? |
|
Definition
-chronic inflammation in gastric mucosa, leading eventually to mucosal atrophy and epithelial metaplasia
-infection by H. pylori
-most individuals are asymptomatic |
|
|
Term
| What are some additional risk factors that could put a chronic gastritis patient at increased risk for many other disorders? |
|
Definition
-bile reflux, NSAIDS, autoimmunity
-they can develop peptic ulcers, gastric mucosa associated lymphoid tissue (MALT) lymphomas, or gastric adenocarcinomas |
|
|
Term
| What is the best way to diagnose H. pylori? |
|
Definition
|
|
Term
| What is acute gastritis? What are 5 usual causes? |
|
Definition
-acute, usually transient mucosal inflammation
-causes: NSAIDS, alcohol, smoking, infections, trauma |
|
|
Term
| What is acute gastritis? What are 5 usual causes? |
|
Definition
-acute, usually transient mucosal inflammation
-causes: NSAIDS, alcohol, smoking, infections, trauma |
|
|
Term
| What is acute gastritis? What are 5 usual causes? |
|
Definition
-acute, usually transient mucosal inflammation
-causes: NSAIDS, alcohol, smoking, infections, trauma |
|
|
Term
| What do the symptoms of acute gastritis depend on? |
|
Definition
| the extent of damage and erosion to the gastric mucosa |
|
|
Term
| What are peptic ulcers and where do they occur? What are most caused by? What are three additional risks? |
|
Definition
-chronic, solitary, recurrent lesions in the first portion of the duodenum or in the stomach (4:1)
-H. Pylori
-Additional risks: NSAIDS, smoking, ETOH |
|
|
Term
| Do all people with H. pylori infection develop peptic ulcers? |
|
Definition
No.
70% of ppl with peptic ulcers have H pylori infection, but only 15% of people with H pylori have peptic ulcers |
|
|
Term
| What sex has a greater risk for peptic ulcers? |
|
Definition
|
|
Term
| What are two symptoms of peptic ulcers? |
|
Definition
| epigastric pain, bleeding |
|
|
Term
| WHat is the tx for peptic ulcers? |
|
Definition
antibiotics
proton pump inhibitors
rarely surgery |
|
|
Term
| Over 90% of stomach cancers are _________ |
|
Definition
|
|
Term
| What is the 5 year survival rate for gastric carcinomas? |
|
Definition
|
|
Term
| Where is the highest incidence of gastric carcinomas? |
|
Definition
| 9x higher in Japan, S. Korea |
|
|
Term
| What are the two morphological types of gastric carcinoma? |
|
Definition
|
|
Term
| From what does intestinal gastric carcinoma arise? Following what? What age? What sex? |
|
Definition
-metaplastic cells following chronic gastritis
-after age 50
-males > females (2:1) |
|
|
Term
| From what does diffuse gastric carcinoma arise? What age? What sex? |
|
Definition
-de novo and not associated with chronic gastritis
-younger age
-females > males |
|
|
Term
| What are the two types of gastric adenocarcinomas? |
|
Definition
|
|
Term
| From what does gastric adenocarcinoma arise? What are the risk factors? Where do the malignant cells form? Symptoms? |
|
Definition
-intestinal metaplasia
-chronic gastritis by H. Pylori
-malignant cells from intestinal glands
-generally asymptomatic |
|
|
Term
| Form what does the diffuse type of gastric adenocarcinoma arise? Risk factors? Where do malignant cells form? Symptoms? |
|
Definition
-gastric mucosal cells
-unidentified RFs
-malignant cells diffuse in mucosa, no gland formation
-generally asymptomatic |
|
|
Term
|
Definition
| the intestinal lumen does not develop; duodenal atresia is most common |
|
|
Term
|
Definition
| Saccular structures that may or may not communicate with remainder of lumen |
|
|
Term
| What are meckel diverticulum? |
|
Definition
| blind pouch, usually in the ileum |
|
|
Term
|
Definition
| intestines herniate through abdominal musculature surrounding umbilicus |
|
|
Term
|
Definition
| malrotation of developing bowels causes intestine to develop in abnormal positions |
|
|
Term
| what is hirschsprung disease? |
|
Definition
|
|
Term
| In Hirschsprung disease, what cells are absent from most of the large intestine? What does this cause? |
|
Definition
nerve cells
stool moves slowly, causing obstruction, then the properly innervated segment proximal to the obstruction becomes progressively distended |
|
|
Term
| What is the main threat to life in Hirschsprung disease? |
|
Definition
| superimposed enterocolitis with fluid and electrolyte imbalances |
|
|
Term
| What sex is hirschprung disease more common in? Is it inherited or acquired? |
|
Definition
-males>females (4:1)
-may be both |
|
|
Term
| 50% of inherited hirschsprung cases are due to what? |
|
Definition
| -50% of inherited cases: inactivating mutations in RET gene and failure of enteric nerves to develop |
|
|
Term
| A narrowing of the arteries that supply blood and oxygen to the intestines can cause what? |
|
Definition
|
|
Term
| What often causes the narrowing of the arteries that leads to ischemic bowel disease? What age does it affect? |
|
Definition
-atherosclerosis
-rare in people under 50 yoa |
|
|
Term
| Acute occlusion of what major artery can cause transmural infarction in ischemic bowel disease? |
|
Definition
major mesenteric artery
can cause death in 90% of cases |
|
|
Term
| What are 4 RFs for an acute occlusion of a major mesenteric artery leading to ischemic bowel disease? |
|
Definition
age
recent major abdominal surgery
récent MI
atrial fibrilation |
|
|
Term
|
Definition
| Enlarged veins located within tissues of the lower portion of the rectum or anus |
|
|
Term
| Are hemorrhoids internal or external? |
|
Definition
|
|
Term
| What age group of hemorrhoids common in? |
|
Definition
|
|
Term
| What are two risks for hemorrhoids? |
|
Definition
straining during constipated bowel movement
venous stasis of pregnancy in younger women |
|
|
Term
|
Definition
| a blind pouch that communicates with the lumen of the gut |
|
|
Term
| in What part of the gut do they usually occur? |
|
Definition
|
|
Term
| In what age group is the prevalence for diverticulum greater than 50%? |
|
Definition
|
|
Term
| What are some causes of colonic diverticulosis? |
|
Definition
| low-fiber diet; exaggerated peristaltic contractions and focal weakness in colon wall |
|
|
Term
| What are the symptoms of colonic diverticulosis? |
|
Definition
-asymptomatic in most
-20%: intermittent cramping, sometimes continuous lower left quadrant discomfort |
|
|
Term
| What part of the gut is most often affected in bowel obstruction? |
|
Definition
| the small bowel due to the narrow lumen |
|
|
Term
| What is another term for enterocolitis? What is it? |
|
Definition
Diarrheal disease
increase in stool mass, frequency, or fluidity |
|
|
Term
| What is secretory eneterocolitis? |
|
Definition
| excessive secretion if intestinal fluid; infections, tumors, excess laxative use |
|
|
Term
| what is osmotic eneterocolitis? |
|
Definition
| something in the bowel is drawing water from the body into the bowels; antacids |
|
|
Term
| What is exudative eneterocolitis? |
|
Definition
| presence of blood and pus in the stool; infections, inflammatory bowel disease |
|
|
Term
| What is malabsorption related eneterocolitis? |
|
Definition
| defective digestion, reduced surface of small intestine, infections |
|
|
Term
| What is deranged motility eneterocolitis? |
|
Definition
| surgery, neural dysfunction, infections |
|
|
Term
| What is acute diarrhea usually related to? |
|
Definition
| viral, bacterial, or parasitic infection |
|
|
Term
| What is the most common presentation of malabsorption syndromes? |
|
Definition
|
|
Term
| Malabsorption syndromes are caused by a defect in one of the following three things: |
|
Definition
intraluminal digestion
mucosal absorption
nutrient delivery |
|
|
Term
| What common disorder is an example of a malabsorption syndrome? Give two characteristics |
|
Definition
Celiac disease
-immunological sensitivity to gluten
-immune response destroys cells lining small intestine, reducing surface area for absorption |
|
|
Term
| What is a common disorder that affects the LI often causing cramping, abd pain, bloating gas, diarrhea, and constipation? Does it cause permanent damage to the LI? |
|
Definition
|
|
Term
| What are two examples of Inflammatory bowel disease? |
|
Definition
crohn disease and ulcerative colitis
-both chronic relapsing inflammatory disorders |
|
|
Term
|
Definition
| abnormal local immune response against normal gut flora and probably self antigens, in genetically susceptible individuals |
|
|
Term
| Exaggerated and destructive mucosal immune response; inflammation causes what 3 things in IBD? |
|
Definition
impaired integrity of mucosal barrier
loss of surface epithelial cell absorptive function
intermittent bloody diarrhea |
|
|
Term
| What is Crohn disease? What three things does it cause in the GI tract? |
|
Definition
-chronic inflammation of the terminal ileum, but can occur anywhere in the GI tract
1. transmural ucleration
2. presence of noncaseating granulomas
3. fistula formation |
|
|
Term
| What are some symptoms of Crohn disease occurring outside of the GI tract? |
|
Definition
-arthritis of spine and joints
-inflammation of the eyes (uveitis)
-skin involvement (erythema nodosum and pyoderma gangrenosum)
-primary sclerosing cholangitis
-hypercoagulability |
|
|
Term
| Pts with Crohn disease have an increased risk of __________ of the intestine |
|
Definition
|
|
Term
| Describe the distribution of Crohn disease |
|
Definition
|
|
Term
| Crohn disease: age? sex? race? |
|
Definition
-presents between 15-30 you
-females> males
-whites> nonwhites
-Ashkenazi jews> non |
|
|
Term
| Describe the onset of crohn disease |
|
Definition
-insidious
-hx of recurrent diarrhea, crampy abdominal pain, fever, and gradual weight loss |
|
|
Term
| Are the symptoms of Crohn disease constant? |
|
Definition
| in most pt's symptoms remit spontaneously or following tx, but will recur with varying frequency and severity |
|
|
Term
| Genetics of Crohn disease: _________ inheritance. Increased risk associated with which genes? |
|
Definition
multifactorial
HLA-DR7, HLA-DQ4, NOD2 |
|
|
Term
|
Definition
| plays a part in regulating the immune response to bacterial infection |
|
|
Term
| Three common ______ polymorphisms increase the risk for Crohn disease, are these variants sufficient to cause Crohn disease? |
|
Definition
NOD2
no, they account at most for 20% of the genetic contribution, intestinal microenvironment may be an important environmental factor contributing |
|
|
Term
| What is ulcerative colitis? What layers of the colon is it limited to? Where does it begin and where does it extend to? What are the symptoms? |
|
Definition
-ulcerative inflammatory disease of the colon, limited to the mucosa and submucosa
-begins in the rectum and extends proximally, in a continuous manner, to all parts of the colon
-symptoms similar to Crohns |
|
|
Term
| What are 4 examples of how ulcerative colitis is different from Crohn? |
|
Definition
-granulomas are absent
-no skip lesions (not patchy)
-ulcers rarely extend below the submucosa
-higher risk of carcinoma development |
|
|
Term
| Describe the onset of ulcerative colitis |
|
Definition
-insidious
-cramps
-tenesmus (constantly feel like you need to poop, but bowel is empty),
colicky lower abdominal pain |
|
|
Term
| What type of diarrhea is associated with ulcerative colitis? |
|
Definition
| bloody mucoid diarrhea attacks |
|
|
Term
| Are bloody stools more common in ulcerative colitis or crohns? |
|
Definition
|
|
Term
| Increased risk for ulcerative colitis is associated with what gene? |
|
Definition
|
|
Term
| What parts of the gut are most often affected with tumors? |
|
Definition
|
|
Term
| What type of cancer accounts for 70% of all cancers in the GI tract and 98% of all those in the LI? |
|
Definition
|
|
Term
| What are 3 possible causes of colon cancer? |
|
Definition
-genetic factors (familial adenomatous polyposis, hereditary nonpolyposis colorectal CA: lynch syndrome)
-dietary factors (WEstern diet: low fiber, high carb, high fat)
-interactions of carcinogens with oncogenes and TSGs |
|
|
Term
| What are the tree classifications of intestinal tumors? |
|
Definition
-non-neoplastic polyps (extra grout of normal cells in the gut)
-benign neoplasms
-malignant neoplasms (usually arise out of benign polyps) |
|
|
Term
| What type of epithelial polyps represent 90% of all those found in the LI? |
|
Definition
|
|
Term
| What are the most common types of polyps found int he colon and rectum? |
|
Definition
|
|
Term
| What are hyper plastic polyps? What are they mainly found? |
|
Definition
-small protrusions of the mucosa
-found anywhere in the colon, mainly in the rectosigmoid region |
|
|
Term
| Adenomas are _________ neoplastic polyps that can progress to _________. They are often _________. Are they excised? |
|
Definition
benign
adenocarcinoma
all are routinely excised |
|
|
Term
| Adenocarcinomas almost always arise in _________/____________/____________. how many mutations are required for cancer to form? |
|
Definition
benign adenomatous polyps
-6 or more |
|
|
Term
| What are the two distinct pathways for the development of colon cancer? |
|
Definition
-adenomatous polyposis coli pathway (APC gene): sporadic colon CA and inherited colon cancer (FAP)
-microsatellite instability pathway (mutations in DNA repair genes): sporadic cancers, inherited colon CA (Lynch Syndrome, HNPCC) |
|
|
Term
| Familial Adenomatous Polyposis (FAP) is an ________/________ genetic disease |
|
Definition
|
|
Term
| How many copies of the APC (adenomatous polyposis coli) gene is inherited? Then what happens? |
|
Definition
-One mutant copy inherited
-Second copy requires a somatic mutation which causes the development of hundreds to thousands of benign adenomatous polyps
-polyps can often develop into malignant growths and cause CA of the colon a/o recum, but only after a cell acquires mutations in numerous additional genes |
|
|
Term
| What is the big picture cause of FAP in regards to the loss of functional APC? |
|
Definition
| APC regulates a whole bunch of other genes, at the end of a long chain of events APC is responsible for the activation of a whole group of other genes leading to inappropriate cell growth |
|
|
Term
| Does the loss of functional APC cause CA? |
|
Definition
| No. Loss of functional APC causes affected cells to form dysplastic foci within intestinal crypts, these cells are NOT cancerous and must acquire other somatic mutations to progress to cancer. AS cells accumulate mutations they become increasingly neoplastic and eventually form invasive and metastatic carcinomas |
|
|
Term
| How many steps are required for FAP colon cancer to develop? |
|
Definition
|
|
Term
| How is FAP characterized? |
|
Definition
| hundreds to thousands of benign adenomatous polyps in the colon and rectum |
|
|
Term
| How is FAP clinically diagnosed? |
|
Definition
| by the presence of either more than 100 colorectal adenomatous polyps or between 10 and 100 polyps in an individual with a relative with FAP |
|
|
Term
| Less than 1% of adenomas progress to carcinoma, so why do FAP patients have such a high rate of carcinoma? |
|
Definition
| -each FAP pt has hundreds to thousands of adenomas, each with the potential to transform. therefore the likelihood that one will transform is near certain |
|
|
Term
| The penetrance and expressivity of APC mutations depends on what three things? |
|
Definition
-particular APC mutation
-genetic background
-environment (including diet) |
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Term
| What is the tx for FAP after the development of polyps |
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Definition
| total colectomy with ileoanal pull through |
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Term
| What is the risk of a pt with FAP or and APC germ line mutation of having a child affected with FAP, in each pregnancy? |
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Definition
|
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Term
| Does the absence of a family history of FAP preclude the diagnosis of FAP in a patient? |
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Definition
| NO, bc 20-30% of pt's have a new germ line mutation |
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Term
| What are three other APC-associated polyposis conditions besides FAP? |
|
Definition
-attenuated FAP (significant risk for colon CA but fewer colonic polyps (avg of 30), more prox located polyps, and diagnosis of CA at a later age)
-Gardner syndrome (colonic polyps typical of FAP together with osteomas and soft tissue tumors)
-Turcot syndrome (association of colonic polyps and CNS tumors) |
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Term
| Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer HNPCC) is a ________/_________ disease. One mutant copy of a DNA _________ repair gene (MLH1, MSH2, MSH6, PMS2) is inherited |
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Definition
autosomal dominant
mismatch |
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Term
| Pts with lynch syndrome are born with one mutations, but what else must happen for cancer to develop? |
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Definition
| the normal allele must be inactivated by a somatic mutation |
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Term
| How many polyps is typical of lynch syndrome? |
|
Definition
| very few, but each with a high probability of becoming cancerous |
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Term
| What is the most common form of inherited colorectal and endometrial cancers? |
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Definition
|
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Term
| WHerelse may cancer be present besides the GI tract in a lynch syndrome patient? |
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Definition
| ovary, stomach, SI, pancreas, upper urinary tract, brain, skin, prostate |
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Term
| All patients with colorectal cancer should have their tumors screened for what? |
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Definition
|
|
Term
| Ppl with lynch syndrome have a ______% risk of having a child carrying the germ line mutation, each child who inherits the mutation has a lifetime cancer risk of about _____% |
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Definition
|
|
Term
| APC is an example of what type of gene? what is its job? |
|
Definition
Gatekeeper gene
regulates cell growth and passage through the cell cycle; for example TSGs and many proto-oncogenes |
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Term
| DNA mismatch repair genes are an example of what type of gene? What is its job? |
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Definition
caretake genes
genes that help maintain the integrity of the genome |
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Term
| How many GI cancers occur in the SI? |
|
Definition
| 1% even though it constitutes 75% of the GI tract |
|
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Term
| Where are most adenocarcinomas of the SI located? |
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Definition
|
|
Term
| What are the symptoms associated with adenocarcinomas of the SI? |
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Definition
| cramping pain, nausea, vomiting, weight loss, often after significant progression of metastasis |
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Term
| What causes acute appendicitis most often? What are some symptoms? tx? |
|
Definition
-obstruction
-periumbilical discomfort, anorexia, nausea, vomiting, right lower quadrant tenderness, constant pain
-surgical excision |
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Term
| What are the most common tumors of the appendix? what type of tumor is it? how malignant? What do the tumors secrete? |
|
Definition
-carcinoid tumors
-neuroendocrine tumors of low malignancy
-serotonin and polypeptide hormones, which cause diarrhea and hyper motility of intestines |
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Term
| carcinoid tumors of the appendix can metastasize to the liver causing what? |
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Definition
| carcinoid syndrome and adversely affect right sided heart valves |
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