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Autosomal recessive diseases (11)
1. CF 2. albinism 3. alpha 1 antitrypsin deficiency 4. phenylketonuria 5. thalassemias 6. sicke cell anemia 7. glycogen storage diseases 8. mucopolysaccharidoses (except Hunter's) 9. sphingolipidoses (except Fabry's) 10.infant polycystic kidney disease 11. hemochromatosis
_____are associated with low golic acid intake during pregnancy.
Neural tube defects
90% of adult polycystic kidney disease cases are due to mutation in _____.
APKD1 (on chromosome 16)
95% of Down's syndrome cases are due to what?
meiotic nondisjunction of homologous chromosomes (4% due to Robertsonian translocation and 1% due to Down mosaicism)
A patent ductus arteriosus is maintained by what 2 things?
PGE synthesis and low oxygen tension
Abnormalities associated with Marfan's syndrome:
1. Skeletal: tall with long extremities, hyperextensive joints, long tapering fingers and toes 2. Cardiovascular: cystic medial necrosis of the aorta, aortic incompetence, aortic dissection, aortic aneurysm, floppy mitral valve Ocular: subluxation of lenses
Adult polycystic kidney disease is associated with what other diseases or disorders?
polycystic liver disease BERRY ANEURYSMS mitral valve prolapse
Babies with Fetal Alcohol Syndrome are at higher risk for developing what other problems?
pre and postnatal developmental retardation microcephaly facial abnormalities limb dislocation heart and lung fistulas
Becker's muscular dystrophy is due to____.
dystrophin gene mutations (not deletions) Becker's is less severe.
Besides pulmonary infections, what are some other consequences of CF?
infertility in males fat-soluable vitamin deficiencies (A,D,E,K)
Causes of female pseudohermaphroditism:
excessive and inappropriate exposure to androgenic steroids during early gestation (i.e., congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy)
Characteristic murmur with a patent ductus arteriosus.
continuous, 'machine-like'
Characteristics of Adult polycystic kidney disease:
always bilateral massive enlargement of kidneys due to multiple large cysts patients present with pain, hematuria, HTN, and progressive renal failure
Characteristics of Duchenne's MD:
onset before age 5 weakness begins in the pelvic girdle muscles and progresses superiorly pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle cardiac myopathy use of Gower's maneuver
Characteristics of female pseudohermaphroditism:
ovaries present but external genitalia are virilized or ambiguous
Characteristics of Fragile X syndrome:
macro-orchidism (enlarged testes), long face with a large jaw, large everted ears, and autism
Characteristics of Hereditary Sperocytosis:
spheroid erythrocytes hemolytic anemia increased MCHC splenectomy is curative
Characteristics of male pseudohermaphroditism:
testes present, but external genitalia are female or ambiguous.
Children may do this to increase venous return with R-to-L shunt.
Compare the cholesterol levels of heterozygores and homozygotes with familial hyperchlosterolemia:
Heterozygotes (1 : 500) cholest. levels around 300mg/dL Homozygotes (very rare) cholest. levels over 700 mg/dL.
Complications associated with homozygous familial hypercholesterolemia:
severe atherosclerotic disease early in life tendon xanthomas (classically in the Achilles tendon) Myocardial Infarction before age 20
Congenital heart defects are often due to which infection?
Cri-du-chat syndrome results from a congenital deletion on which chromosome?
short arm of chromosome 5 46 XX or XY, 5p-
Define Meningocele:
meninges herniate through spinal canal defect picture on p. 229
Define Meningomyelocele:
meninges and spinal cord herniate through spinal canal defect picture on p.229
Define pseudohermaphroditism:
disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex.
Define Spina bifida occulta:
failure of bony spinal canal to close, but no structural herniation. (usually seen at lower vertebral levels) picture on p. 299 (2002 edition)
Describe a true hermaphrodite:
46 XX or 47 XXY both ovary and testicular tissue present; ambiguous genitalia
Describe Eisenmenger's syndrome:
Uncorrected VSD, ASD, or PDA leads to progressive pulm. HTN. As pulm. resistance increases, the shunt changes from L to R to R to L, which causes late cyanosis (clubbing and polycythemia).
Does coarctation of the aorta affect males or females most commonly?
3:1 males to females
Down's syndrome is associated with increased or decreased levels of AFP?
Elevated ___ in amniotic fluid is evidence of a neural tube defect.
AFP (alpha fetal protein)
Explain the adult type of coarctation of the aorta and give some associated symptoms.
aortic stenosis distal to ductus arteriosus (postductal) aDult is Distal to Ductus associated with notching of the ribs, hypertension in upper extremities, weak pulses in lower extermities (check femoral pulse)
Explain the infantile type of coarctation of the aorta. What is it commonly associated with?
aortic stenosis proximal to insertion of ductus arteriosus (preductal) 'INantile, IN close to the heart.' associated with Turner's syndrome
Explain the pathogenesis of eisenmeinger's syndrome
In fetal period, shunt is R to L (normal). In neonatal period, lung resistance decreases and shunt becomes L to R with subsequent RV hypertrophy and failure (abnormal).
Explain the transposition of the great vessels.
Aorta leaves RV (anterior) and pulmonaryt trunk leaves LV (posterior) this leads to separation of systemic and pulmonary circulations.
Familial Adenomatous Polyposis features:
Colon becomes covered with adenomatous polyps after puberty 'FAP' F= five (deletion on chromosome 5) A= autosomal dominant inheritance P= positively will get colon cancer (100% without resection)
Findings in Von Recklinghausen's disease:
cafÒ©-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders (scoliosis), and increased tumor susceptibility
Findings of Cri-du-chat syndrome:
microcephaly, severe Mental Retardation, high pitched crying/mewing -(Cri-du-chat is French for cry of the cat), cardiac abnormalities
Findings with Huntington's disease:
depression progressive dementia choreiform movements caudate atrophy dec. levels of GABA and Ach in the brain
Frequency of L-toR shunts:
Gender identity is based on what two things?
1. external genitalia 2. sex of upbringing
Genetic anticipation of Fragile X syndrome may be shown by what?
Triplet repeat (CGG)n
Highest risk of development of fetal alcohol syndrome at __ to ___ weeks.
3 to 8
How does CF present in infancy?
Failure to thrive
How is CF diagnosed?
increased concentration of Cl- ions in sweat test
How is MD diagnosed?
muscle biopsy increased serum CPK
Huntington's disease manifests between the ages of :
20 and 50
Incidence and characteristics and Turner's syndrome:
1 in 3000 births short stature, ovarian dysgenesis, webbed neck, coarction of the aorta
Incidence and characteristics of double Y males:
1 in 1000 births phenotypically normal, very tall, severe acne, antisocial behavior (seen in 1-2%)
Incidence and characteristics of Edward's syndrome:
1 in 8000 births severe MR, rocker bottom feet, low-set ears, micrognathia, congenital heart disease, clenched hands (flexion of fingers), prominent occiput. Death usually occurs within 1 year of birth.
Incidence and characteristics of Klinefelter's syndrome:
1 in 850 births testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution
Incidence and characteristics of Patau's syndrome:
1 in 6000 births severe MR, microphthalmia, microcephaly, cleft lip/palate, abnormal forebrain structures, polydactly, congenital heart disease Death usually occurs within 1 year of birth.
Marfan's is due a mutation in which gene?
Mechanism of Fetal Alcohol Syndrome may be :
inhibition of cell migration
Most common form of male pseudohermaphroditism is ____.
testicular feminization (androgen insensitivity) results from a mutation in the androgen receptor gene (X linked recessive); blind-end vagina
Name 3 examples of L-to-R shunts. (late cyanosis) 'blue kids'
1. VSD (ventricular septal defect) 2. ASD (atrial septal defect 3. PDA (patent ductus arteriosus)
Name 3 examples of R-to-L shunts. (early cyanosis) 'blue babies'
The 3 T's' 1. Tetralogy of Fallot 2. Transposition of great vessels 3. Truncus arteriosus
Name 7 common congenital malformations
1. heart defects 2. Hypospadias (when the urethral canal is open on the undersurface of the penis or on the perineum) 3. Cleft lip w/ or w/out cleft palate 4. congenital hip dislocation 5. Spina Bifida 6. Anencephaly 7. Pyloric stenosis
Name 8 autosomal-dominant diseases:
1. Adult polycystic kidney disease 2. Familial hyperchloresterolemia (type IIA) 3. Marfan's syndrome 4. Von Recklinghausen's disease (NFT1) 5. Von Hippel-Lindau disease 6. Huntington's disease 7. Familial Adenomatous Polyposis 8. Hereditary Sperocytosis
Name an X-linked recessive muscular disease that leads to accelerated muscle breakdown.
Duchenne's Muscular Dystrophy
Name the 4 components of Tetralogy of Fallot.
PROVe' 1. Pulmonary Stenosis 2. RVH (right ventricular hypertrophy) 3. Overriding aorta (overrides the VSD) 4. VSD (ventricular septal defect)
Neural tube defects (spina bifida and anencephaly) are associated with increased levels of ___ in the amniotic fluid and maternal serum.
AFP (alpha fetal protein)
Newborns of mothers who consumed significant amounts of alcohol (teratogen) during pregnancy are at risk for _______.
fetal alcohol syndrome (the number one cause of congenital malformations in the U.S.)
Patau's syndrome = trisomy ___
13 (hint: Puberty - 13)
Pathogenesis of Cystic Fibrosis:
defective Cl- channel --> secretion of abnormally thick mucus that plugs lungs, pancreas, and liver --> recurrent pulmonary infections (Pseudomonas species and Staph aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns.
Patients with Tetralogy of Fallot often suffer _________.
cyanotic spells
Pyloric stenosis is associated with______.
polyhydramnios; projectile vomiting
T/F: Trisomy 21 is associated with advanced maternal age.
True (from 1 in 1500 births in women<20 to 1 in 25 births in women>45)
Tetralogy of Fallot leads to early cyanosis from a R-to-L shunt across the ____.
The defect in Von Recklinghausen's disease is found on which chromosome?
17 (hint: 17 letters in Recklinghausen's)
The gene responsible for Huntington's disease is located on chromosome__.
4 ; triplet repeat disorder
The incidence of neural tube defects is decreased by maternal ingestion of what?
Transposition of great vessels is a common congenital heart disease in offspring of _____ mothers.
Transposition of great vessels is not compatible with life unless what is present?
a shunt that allows adequate mixing of blood (VSD, PDA, or patent foramen ovale)
Trisomy 18 is also known as______.
Edward's syndrome (hint: Election age = 18)
Turner's syndrome is the most common cause of what?
primary amenorrhea
Von Hippel-Lindau disease characteristics:
hemangioblastomas of retina/cerebellum/medulla about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors
Von Hippel-Lindau disease is associated with the deletion of what gene?
VHL gene (tumor suppressor) on chromosome 3 (3p)
What are some findings of Down's syndrome?
mental retardation flat facial profile prominent epicanthal folds simian crease duodenal atresia congenital heart disease (most common malformation is endocardial cushion defect) Alzheimer's disease in individuals over 35 increased risk of ALL
What does a heart with Tetralogy of Fallot look like on x-ray?
boot-shaped due to RVH
What gender genetic disorder has been observed with increases frequency among inmates of penal institutions?
Double Y males (XYY)
What is different about the juvenile form of polycystic kidney disease?
it is recessive
What is Gower's maneuver?
requiring assistance of the upper extermities to stand up (indicates proximal lower limb weakness)
What is the cause of Duchenne's MD?
a deleted dystrophin gene (hint: 'D' for deletion)
What is the cause of Tetralogy of Fallot?
anterosuperior displacement of the infundibular septum
What is the incidence of Down's syndrome?
1 in 700 births
What is the most common cause of early cyanosis?
Tetralogy of Fallot
What is the most common chromosomal disorder and cause od congenital mental retardation?
Down's syndrome (trisomy 21)
What is the most common congenital cardiac anomaly?
What is the most common lethal genetic disease of Caucasians?
Cystic Fibrosis
What is the second most common cause of mental retardation?
Fragile X syndrome
What is the underlying cause of Cystic Fibrosis?
Autosomal - recessive defect in CFTR gene on chromosome 7
What is the underlying cause of Familial hypercholesterolemia?
defective or absent LDL receptor leading to elevated LDL
What is used to close a patent ductus arteriosus? What is used to keep it open?
Indomethacin PGE (may be necessary to sustain life in conditions such as transposition of the great vessels)
Which gene is affected in Fragile X?
methylation and expression of the FMR 1 gene is affected in this X-linked disorder
Which genetic gender disorder has an inactivated X chromosome (Barr body)?
Klinefelter's syndrome
Why are female carriers of X-linked recessive disorders rarely affected?
because of random inactivation of X chromosomes in each cell
X-linked recessive disorders (10)
1. Fragile X 2. Duchenne's MD 3. hemophilia A and B 4. Fabry's 5. G6PD deficiency 6. Hunter's syndrome 7. ocular albimism 8. Lesch-Nyhan syndrome 9. Bruton's agammaglobulinemia 10. Wiscott-Aldrich syndrome
XO =
Turner's syndrome (think: 'hugs and kisses' -XO- from Tina Turner)
Klinefelter's syndrome one of the most common causes of hypogonadism in males
Approximately what percentage of brain tumors arise from metastasis?
Are basal cell carcinomas invasive?
Locally invasive but rarely metastasize
Are Ewing's sarcomas likely to metastasize?
Yes. They are extremely aggressive with early metastasis. However, they are responsive to chemotherapy.
Are meningiomas resectable?
Are squamous cell carcinomas of the skin invasive?
Locally invasive but rarely metastasize
Are the majority of adult tumors supratentorial or infratentorial?
Are the majority of childhood tumors supratentorial or infratentorial?
Common histopathology often seen in squamous cell carcinomas of the skin?
Keratin pearls
Define anaplasia
Abnormal cells lacking differentiation; like primitive cells of the same tissue. Often equated with undifferentiated malignant neoplasms. Tumor giant cells may be formed.
Define dysplasia
Abnormal growth with loss of cellular orientation, shape, and size in comparison to normal tissue maturation. It is reversible but is often a preneoplastic sign.
Define hyperplasia
Increase in the number of cells (reversible)
Define metaplasia
One adult cell type is replaced by another (reversible). It is often secondary to irritation and/or environmental exposure (e.g. squamous metaplasia in the trachea and bronchi of smokers)
Define neoplasia
Clonal proliferation of cells that is uncontrolled and excessive
Do oncogenes cause a gain or loss of function?
Gain of function
Do tumor suppressor genes cause a gain or loss of function?
Loss of function. Both alleles must be lost for expression of disease
Does a melanoma have a significant risk of metastasis?
Very significant risk! The depth of the tumor often correlates with the risk of metastasis.
From what cells do meningiomas most commonly arise?
Arachnoid cells external to the brain
Give 2 examples of a benign tumor of epithelial origin.
1. Adenoma 2. Papilloma
Give 2 examples of a malignant tumor of mucosal epithelial origin.
1. Adenocarcinoma 2. Papillary carcinoma
Give 2 examples of malignant tumors of blood cell (mesenchymal) origin.
1. Leukemia 2. Lymphoma
Give an example of a benign tumor of blood vessel (mesenchymal) origin.
Give an example of a benign tumor of bone (mesenchymal) origin.
Give an example of a benign tumor of more than one cell type.
Mature teratoma
Give an example of a benign tumor of skeletal muscle (mesenchymal) origin.
Give an example of a benign tumor of smooth muscle (mesenchymal) origin.
Give an example of a malignant tumor of blood vessel (mesenchymal) origin.
Give an example of a malignant tumor of bone (mesenchymal) origin.
Give an example of a malignant tumor of more than one cell type.
Immature teratoma
Give an example of a malignant tumor of skeletal muscle (mesenchymal) origin.
Give an example of a malignant tumor of smooth muscle (mesenchymal) origin.
Give an example of a neoplasm associated with Down's Syndrome.
Acute Lymphoblastic Leukemia (ALL)
How are tumor markers used?
Tumor markers are used to confirm diagnosis, to monitor for tumor recurrence, and to monitor the response to therapy. They should not be used as a primary tool for diagnosis.
How is prostatic adenocarcinoma most commonly diagnosed?
Digital rectal exam (detect hard nodule) or by prostate biopsy
How often do primary brain tumors undergo metastasis?
Very rarely
In what population is osteochondroma most often found?
Usually men under the age of 25
In which age group is prostatic adenocarcinoma most common?
Men over the age of 50
Is malignant transformation in osteochondroma common?
Malignant transformation to chondrosarcoma is rare
Name 1 common tumor staging system.
TNM system T= size of tumor, N=node involvement, and M=metastases
Name 3 herniation syndromes that can cause either coma or death when the herniations compress the brainstem
1. Downward transtentorial (central) herniation 2. Uncal herniation 3. Cerebellar tonsillar herniation into the foramen magnum
Name 4 factors that predispose a person to osteosarcoma.
1. Paget's disease of bone 2. Bone infarcts 3. Radiation 4. Familial retinoblastoma
Name 4 possible routes of herniation in the brain
1. Cingulate herniation under the falx cerebri 2. Downward transtentorial (central) herniation 3. Uncal herniation 4. Cerebellar tonsillar herniation into the foramen magnum
Name 5 primary brain tumors with peak incidence in adulthood.
1. Meningioma 2. Glioblastoma multiforme 3. Oligodendroglioma 4. Schwannoma 5. Pituitary adenoma
Name 5 primary brain tumors with peak incidence in childhood.
1. Medulloblastoma 2. Hemangioblastoma 3. Ependymomas 4. Low-grade astrocytoma 5. Craniopharyngioma
Name 5 sites from which tumor cells metastasize to the brain.
1. Lung 2. Breast 3. Skin (melanoma) 4. Kidney (renal cell carcinoma) 5. GI
Name a common histopathological sign of basal cell carcinoma nuclei
The nuclei of basal cell tumors have 'palisading' nuclei
Name a population at a greater risk for melanoma.
Fair-skinned people (blue eyes and red hair have also been considered as factors)
Name the 5 primary tumors that metastasize to the liver
1. Colon 2. Stomach 3. Pancreas 4. Breast 5. Lung
Name two of the most common sites of metastasis after the regional lymph nodes
The liver and the lung
Name two presenting sequelae of a pituitary adenoma.
1. Bitemporal hemianopsia (due to pressure on the optic chiasm) 2. Hypopituitarism
On which chromosome is the p53 gene located?
On which chromosome is the Rb gene located?
On which chromosomes are the BRCA genes located?
BRCA 1 is on 17q and BRCA 2 is on 13q
Out of the 6 primary tumors that metastasize to bone, which two are the most common?
Metastasis from the breast and prostate are the most common
What 2 cancers are associated with EBV?
1. Burkitt's lymphoma 2. Nasopharyngeal carcinoma
What 2 neoplasms are associated with AIDS?
1. Aggressive malignant lymphomas (non-Hodgkins) 2. Kaposi's sarcoma
What 2 neoplasms are associated with Autoimmune disease (e.g. Hashimoto's thyroiditis, myasthenia gravis, etc.)?
Benign and malignant thymomas
What 2 neoplasms are associated with Paget's disease of bone?
1. Secondary osteosarcoma 2. Fibrosarcoma
What 2 neoplasms are associated with Tuberous sclerosis (facial angiofibroma, seizures, and mental retardation)?
1. Astrocytoma 2. Cardiac rhabdomyoma
What are 2 characteristic findings in carcinoma in situ?
1. Neoplastic cells have not invaded the basement membrane 2. High nuclear:cytoplasmic ratio and clumped chromatin
What are 2 characteristic findings of an invasive carcinoma?
1. Cells have invaded the basement membrane using collagenases and hydrolases 2. Able to metastasize if they reach blood or lymphatic vessels.
What are 2 neoplasms associated with Xeroderma pigmentosum?
1. Squamous cell carcinoma of the skin 2. Basal cell carcinoma of the skin
What are 3 disease findings associated with Alkaline Phosphatase?
1. Metastases to bone 2. Obstructive biliary disease 3. Paget's disease of bone
What are 6 primary tumors that metastasize to bone?
1. Kidney 2. Thyroid 3. Testes 4. Lung 5. Prostate 6. Breast
What are a common histopathological finding of meningiomas?
Psammoma bodies. These are spindle cells concentrically arranged in a whorled pattern.
What are ependymomas?
Ependymal cell tumors most commonly found in the 4th ventricle. May cause hydrocephalus
What are the steps in the progression of neoplasia?
1. Normal 2. Hyperplasia 3. Carcinoma In Situ/Preinvasive 4. Invasion
What are two signs of bone metastases in prostatic adenocarcinoma?
An increase in serum alkaline phosphatase and PSA (prostate-specific antigen)
What are two useful tumor markers in prostatic adenocarcinoma?
Prostatic acid phosphatase and prostate-specific antigen (PSA)
What can be associated with the risk of melanoma?
Sun exposure
What cancer is associated with HBV and HCV (Hep B and C viruses)?
Hepatocellular carcinoma
What cancer is associated with HHV-8 (Kaposi's sarcoma-associated herpes virus)?
Kaposi's carcinoma
What cancer is associated with the HTLV-1 virus?
Adult T-cell leukemia
What cancers are commonly associated with HPV (human papilloma virus)?
Cervical carcinoma, penile, and anal carcinoma
What causes the local effect of a mass?
Tissue lump or tumor
What causes the local effect of a nonhealing ulcer?
Destruction of epithelial surfaces (e.g. stomach, colon, mouth, bronchus)
What causes the local effect of a space-occupying lesion?
Raised intracranial pressure in brain neoplasms. Also seen with anemia due to bone marrow replacement.
What causes the local effect of bone destruction?
Pathologic fracture or collapse of bone
What causes the local effect of edema?
Venous or lymphatic obstruction
What causes the local effect of hemorrhage?
Caused by ulcerated area or eroded vessel
What causes the local effect of inflammation of a serosal surface?
Pleural effusion, pericardial effusion, or ascites
What causes the local effect of obstruction in the biliary tree?
What causes the local effect of obstruction in the bronchus?
What causes the local effect of obstruction in the left colon?
What causes the local effect of pain?
Any site with sensory nerve endings. Remember that tumors in the brain are usually painless.
What causes the local effect of perforation of an ulcer in the viscera?
Peritonitis or free air
What causes the local effect of seizures?
Tumor mass in the brain.
What causes the localized loss of sensory or motor function?
Compression or destruction of nerve (e.g. recurrent laryngeal nerve by lung or thyroid cancer causes hoarseness)
What causes the paraneoplastic effect gout?
Hyperuricemia due excess nucleic acid turnover (secondary to cytotoxic therapy of various neoplasms)
What causes the paraneoplastic effect of Cushing's disease?
ACTH or ACTH-like peptide (secondary to small cell lung carcinoma)
What causes the paraneoplastic effect of hypercalcemia?
PTH-related peptide, TGF-a, TNF-a, IL-2 (secondary to squamous cell lung carcinoma, renal cell carcinoma, breast carcinoma, multiple myeloma, and bone metastasis)
What causes the paraneoplastic effect of Lambert-Eaton syndrome?
Antibodies against presynaptic Ca2+ channels at NMJ (Thymoma, bronchogenic carcinoma)
What causes the paraneoplastic effect of Polycythemia?
Erythropoietin (secondary to renal cell carcinoma)
What causes the paraneoplastic effect of SIADH?
ADH or ANP (secondary to small cell lung carcinoma and intracranial neoplasms)
What chemical carcinogen is commonly associated with the centrilobar necrosis and fatty acid change?
What chemical carcinogen is commonly associated with the esophagus and stomach?
What chemical carcinogen is commonly associated with the lungs?
Asbestos (Causes mesothelioma and bronchogenic carcinoma)
What chemical carcinogen is commonly associated with the skin (squamous cell)?
What chemical carcinogen(s) are commonly associated with the liver?
Aflatoxins and vinyl chloride
What is a chondrosarcoma?
Malignant cartilaginous tumor.
What is a common genetic finding in Ewing's sarcoma?
11;22 translocation
What is a common gross pathological sign seen in Ewing's sarcoma?
Characteristic 'onion-skin' appearance of bone
What is a common origin of a chondrosarcoma?
May be of primary origin or from osteochondroma
What is a common sign found on the x-ray of a person with osteosarcoma?
Codman's triangle (from elevation of periosteum)
What is a craniopharyngioma?
Benign childhood tumor. Often confused with pituitary adenoma because both can cause bitemporal hemianopsia. Calcification of the tumor is common.
What is a Ewing's sarcoma?
Anaplastic small cell malignant tumor.
What is a giant cell tumor?
Locally aggressive benign tumor around the distal femur, proximal tibial region.
What is a gross pathological sign of basal cell carcinoma?
Pearly papules
What is a helpful mnemonic to remember the neoplasm associated with Down's Syndrome?
We ALL go DOWN together.
What is a helpful mnemonic to remember the site of metastasis to the brain?
Lots of Bad Stuff Kills Glia
What is a helpful mnemonic to remember the types of cancer that metastasize to the liver?
Cancer Sometimes Penetrates Benign Liver
What is a helpful mnemonic to remember what tumors metastasize to bone?
BLT with a Kosher Pickle
What is a Hemangioblastoma?
Most often a cerebellar tumor. Associated with von Hippel Lindau syndrome when found with retinoblastoma.
What is a low-grade astrocytoma?
Diffusely infiltrating glioma. In children, it is most commonly found in the posterior fossa.
What is a medulloblastoma?
Highly malignant cerebellar tumor. A form of primitive neuroectodermal tumor (PNET). Can compress 4th ventricle causing hydrocephalus
What is a neoplasm associated with actinic keratosis?
Squamous cell carcinoma of the skin
What is a neoplasm associated with Barrett's esophagus (chronic GI reflux)?
Esophageal adenocarcinoma
What is a neoplasm commonly associated with chronic atrophic gastritis, pernicious anemia, and postsurgical gastric remnants?
Gastric adenocarcinoma
What is an oligodendroglioma?
A relatively rare, slow growing, benign tumor.
What is CEA (carcinoembryonic antigen)?
Very nonspecific antigen produced by 70% of colorectal and pancreatic cancers and by gastric and breast carcinoma
What is considered a precursor to squamous cell carcinoma?
Actinic keratosis
What is considered to be a precursor to malignant melanoma?
Dysplastic nevus
What is meant by the term tumor grade?
Histologic appearance of the tumor. Usually graded I-IV based on degree of differentiation and number of mitoses per high-power field.
What is meant by the term tumor stage?
Based on site an size of primary lesion, spread to regional lymph nodes, and presence of metastases.
What is the characteristic appearance of a giant cell tumor on an x-ray?
Characteristic 'double bubble' or 'soap bubble' appearance
What is the common histopathology associated with Ependymomas?
Characteristic perivascular rosettes. Rod-shaped blepharoblasts (basal ciliary bodies) found near the nucleus.
What is the common histopathology associated with Hemangioblastoma?
Foamy cells and high vascularity are characteristic. Can produce EPO and lead to polycythemia.
What is the common histopathology associated with medulloblastomas?
Rosettes or perivascular pseudorosette pattern of cells
What is the common histopathology associated with oligodendrogliomas?
Fried egg' appearance of cells in tumor. Often calcified.
What is the common histopathology associated with schwannoma?
Antoni A=compact palisading nuclei; Antoni B=loose pattern
What is the common histopathology found in Glioblastoma multiforme?
Pseudopalisading' tumor cells border central areas of necrosis and hemorrhage
What is the differentiation pattern of normal cells?
Basal to apical differentiation
What is the histopathology commonly associate with giant cell tumors?
Spindle-shaped cells with multi-nucleated giant cells.
What is the most common benign bone tumor?
What is the most common location of basal cell carcinoma of the skin?
Usually found in sun-exposed areas of the body.
What is the most common location of osteosarcoma?
Commonly found in the metaphysis of long bones
What is the most common organ to 'send' metastases?
The lung is the most common origin of metastases. The breast and stomach are also big sources.
What is the most common organ to receive metastases?
Adrenal glands. This is due to their rich blood supply. The medulla usually receives metastases first and then the rest of the gland.
What is the most common population to have chondrosarcoma?
Men age 30-60 years old
What is the most common primary brain tumor?
Glioblastoma multiforme (grade IV astrocytoma)
What is the most common primary malignant tumor of bone?
What is the most common type of pituitary adenoma?
Prolactin secreting
What is the most likely population to have Ewing's sarcoma?
Boys under 15 years old.
What is the origin of a craniopharyngioma?
Derived from the remnants of Rathke's pouch
What is the origin of a Pituitary adenoma?
Rathke's pouch
What is the origin of the Schwannoma?
Schwann cell origin. Often localized to the 8th cranial nerve (acoustic schwannoma). Bilateral schwannoma found in NF2.
What is the peak incidence of giant cell tumor?
20-40 years old
What is the peak incidence of osteosarcoma?
Men 10-20 years old
What is the prognosis for Glioblastoma multiforme?
Prognosis is grave. Usually only have a year life expectancy.
What is the second most common primary brain tumor?

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