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USMLE Step 1 > High-yield associations > Flashcards

High-yield associations Flashcards

1
Q

VHL gene (deletion on chromosome 3p) tumor suppressor gene

A

Sporadic renal cell carcinoma

Autosomal dominant Von Hippel-Lindau (cerebellar and retinal hemangioblastoma, clear cell renal carcinoma, pheochromocytoma)

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2
Q

C-MYC (chromosome 8) oncogene

A

Burkitt lymphoma

Diffuse large B cell lymphoma

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3
Q

NF-1 (chromosome 17) tumor suppressor gene

A

Neurofibromatosis type 1 (AKA von Recklinghausen disase)
Autosomal dominant mutation of NF1 that encodes protein neurofibromin
Characterized by cutaneous neurofibromas (fleshy, dome-shaped or pedunculated made of Schwann cells), cafe-au-lait spots, Lisch nodules (hamartoma of the iris), sphenoid dysplasia, congenital pseudoarthrosis, scoliosis

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4
Q

RB (chromosome 13) tumor suppressor gene

A

Retinoblastoma

Osteosarcoma

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5
Q

WT-1 (chromosome 11) tumor suppressor gene

A

Wilms tumor

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6
Q

45, XO

A

Turner syndrome

Low-set ears, webbed neck, wide-spaced nipples, cardiac defects (e.g. coarctation of the aorta, bicuspid aortic valve), narrow, high arched palate, low hairline, short stature, broad chest (“shield chest”), primary amenorrhea (streak ovaries), horseshoe kidney, intellectual disability, lymphatic outflow abnormalities (lymphedema, cystic hygroma)

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7
Q

46, XX, del(22)(q11)

A

DiGeorge syndrome

Hypertelorism, micrognathia, cleft palate, cardiac defects (e.g. interrupted aortic arch, Tetrology of Fallot)

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8
Q

47, XX, +18

A

Edwards syndrome

Low-set ears, micrognathia, clenched hands with overlapping fingers, hypertonia, cardiac defects, rocker bottom feet, omphalocele

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9
Q

47, XX, +21

46, XX, t(14;21) - Robertsonian translocation

A

Down Syndrome

Epicanthal folds, upslanting palpebral fissures, protruding tongue, excessive skin at the nape of the neck, below average birth weight and length, hypotonia, weak Moro reflex, cardiac defects (e.g. VSD), duodenal atresia (double bubble sign)

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10
Q

Fetal alcohol syndrome

A

Short palpebral fissures, smooth philtrum, thin vermillion border

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11
Q

Teratogenic effects of phenytoin

A

Neural tube defects, orofacial clefts, microcephaly, nail or digit hypoplasia

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12
Q

Teratogenic effects of lithium

A

Ebstein anomaly (ASD, atrialized right ventricle, malformed tricuspid valve), nephrogenic diabetes insipidus, hypothyroidism

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13
Q

Teratogenic effects of valproate

A

Neural tube defects

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14
Q

Teratogenic effects of isotretinoin

A

Microcephaly, thymic hypoplasia, small ears, hydrocephalus

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15
Q

Teratogenic effects of methotrexate

A

Limb and craniofacial abnormalities, neural tube defects, abortion

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16
Q

Teratogenic effects of ACE inhibitors

A

Renal dysgenesis, oligohydramnios

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17
Q

Teratogenic effects of warfarin

A

Nasal hypoplasia, stippled epiphysis

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18
Q

Teratogenic effects of tetracyclines

A

Teeth staining

Amoxicillin is the first-line for Lyme disease during pregnancy

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19
Q

Teratogenic effects of chloramphenicol

A

“Gray baby” syndrome

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20
Q

Teratogenic effects of TMP/SMX

A

Neural tube defects

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21
Q

Teratogenic effects of aminoglycosides

A

Ototoxicity, vetibulotoxicity

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22
Q

Arachnodactyly, scoliosis, aortic root dilation

A

Marfan syndrome
Inherited defect of the extracellular matrix protein fibrillin (FBN1 gene) responsible for the production and maintenance of elastic fibers
Often exhibits variable expressivity
Other symptoms: tall, thin body habitus, hypermobile joints, aortic dissection, peumothorax

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23
Q

Macroorchidism, large jaw, intellectual disability

A

Fragile X syndrome
Expansion of trinucleotide repeats on FMR1 gene on the long arm of the X chromosome –> FMR1 hypermethylation –> prevention of transcription
May also see long and narrow face, prominent forehead and chin, hyperlaxity of hand joints

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24
Q

Short stature, hypotonia, intellectual disability, obesity, hyperphagia, hypogonadism

A

Prader-Willi

Microdeletion of paternal chromosome 15 or maternal uniparental disomy

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25
Q

47, XXY

A

Kleinfelter syndrome

Tall stature, small, firm testes, azoospermia (primary hypogonadism), gynecomastia, mild intellectual disability

Labs: ↓ testosterone –> ↑ GnRH –> ↑ LH/FSH –> ↑ estradiol

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26
Q

Primary ciliary dyskinesia

A

Autosomal recessive dynein arm defect impairs normal ciliary motion and mucociliary clearance

Chronic sinusitis, nasal polyps, bronchiectasis, digital clubbing, situs inversus, infertility due to immotile spermatozoa

Dx: low nasal nitric oxide levels, bronchoscopy and electron microscopic visualization of ciliary abnormalities, genetic testing

Situs inversus + chronic sinusitis + bronchiectasis = Kartagener syndrome

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27
Q

Cystic fibrosis

A

Mutation of CFTR gene

Chronic sinusitis, nasal polyps, bronchiectasis, digital clubbing, pancreatic insufficiency, infertility due to absent vas deferens, failure to thrive

Dx: elevated sweat chloride levels, abnormal nasal transepithelial potential difference, genetic testing

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28
Q

Krunkenberg tumor

A

Primary gastric cancer that has metastasized to the ovary via lymphatics
Histology shows mucin-filled signet ring cells.

29
Q

Which HPV strains are associated with cervical cancer?

A

16, 18

1, 4 (skin warts)
6, 11 (genital warts/condylomata acuminata)

30
Q

Which tumors have psammoma bodies?

A

Papillary carcinoma of the thyroid
Serous cystadenocarcinoma of the ovaries
Mesothelioma
Meningioma

31
Q

Achondroplasia

A

Gain-of-function point mutation of FGFR3 gene –> inhibits cartilage proliferation, esp of long bones –> shortened proximal long bones (humerus, femur), shortened digits
Also midface hypoplasia, frontal bossing, trident hand (space between 3rd and 4th digit), bowing of tibia (genu varum)

32
Q

Osteogenesis imperfecta

A

Mutations in COL1A1 or COL1A2 genes –> improper type 1 collagen
May manifest with premature osteoporosis, short stature, scoliosis, blue sclerae, hearing loss, increased skin and ligament laxity, easy bruisabiity, opalescent teeth

33
Q

BRCA 1/2 tumor suppressor

A

DNA repair genes

Breast and ovarian cancer

34
Q

ATP7B gene mutation (chromosome 13)

A

Wilson disease (autosomal recessive) defect in hepatic copper excretion and failure of copper to enter circulation as ceruloplamin

May manifest with hemolytic anemia, parkinsonian symptoms, asterixis, dementia, chorea, cirrhosis, hepatocellular carcinoma, Kayser-Fleischer rings

Dx: ↓ ceruloplasmin

Tx: D-penicillamine, trientine (copper chelators)

35
Q

HFE gene mutation

A

Mutation of HFE gene product –> reduced synthesis of hepcidin (encoded by HAMP gene) –> ferroportin remains active –> increased efflux of iron from enterocytes –> iron deposition and free radical damage (hemochromatosis)

36
Q

Carcioembryonic antigen (CEA)

A

Tumor marker for colorectal carcinoma

Useful for detecting residual disease and recurrence

37
Q

Alpha fetoprotein (AFP)

A

Tumor marker for hepatocellular carcinoma and germ cell tumors (e.g. endodermal sinus/yolk sac tumors)
Elevated AFP in maternal serum may also indicate gastroschisis

38
Q

CA 19-9

A

Tumor marker for pancreatic cancer

39
Q

CA 125

A

Tumor marker for ovarian epithelial cancers

40
Q

Human chorionic gonadotropin

A

Tumor marker for choriocarcinoma

41
Q

Treatment for arsenic poisoning

A

Dimercaprol

Arsenic can be found in pesticides/insecticides and cause garlicky breath and QTc prolongation

42
Q

Treatment for acute lead poisoning

A

CaNa2EDTA

43
Q

Treatment for iron overdose

A

Deferoxamine

44
Q

Treatment for cyanide poisoning

A

Hydroxycobalamin

45
Q

Treatment for methemeglobinemia

A

Methylene blue

46
Q

Mutation of APC tumor suppressor gene

A

First mutation in the adenoma-carcinoma sequence of colorectal carcinoma
Hereditary mutation in Familial Adenomatous Polyposis

47
Q

Mutation of TP53 tumor suppressor gene

A

Last mutation in the adenoma-carcinoma sequence of colorectal carcinoma
Hereditary mutation in Li-Fraumeni syndrome (breast cancer, sarcomas, brain tumors, adrenocortical carcinoma, leukemia)

48
Q

Mutation of MEN1 tumor suppressor gene

A

Associated with Multiple Endocrine Neoplasia type I (parathyroid adenomas, pituitary adenomas, pancreatic adenomas)

49
Q

Mutation in RET oncogene

A

Associated with Multiple Endocrine Neoplasia type II = medullary thyroid cancer, pheochromocytoma, parathyroid hyperplasia (IIA) or glioblastomas (IIB)

50
Q

Mutations in DNA mismatch repair genes MSH2, MLH1, MSH6, PMS2 (tumor suppressors)

A

Associated with Lynch syndrome (colorectal cancer, endometrial cancer, ovarian cancer)

51
Q

S-100

A

Expressed in neural crest cells

Tumor marker for melanoma, neural tumors, schwannomas, Langerhans cell histiocytosis)

52
Q

BRAF protein kinase mutation

A

Melanoma

53
Q

Hilar lymdphadenopathy, hypercalcemia, elevated ACE

A

Sarcoidosis
Often seen in young female African Americans
Elevated calcium from PTH-independent formation of 1,25-OH vitamin D by activated macrophages

54
Q

Smoking history, lung nodules, hypercalcemia

A

Paraneoplastic syndrome from lung cancer
Release of PTH-related peptide
Does not upregulate 1-alpha hydroxylase like PTH so no effect on 1,25-OH vitamin D

55
Q

BMPR2 gene mutation

A

Familial pulmonary arterial hypertension
Mutation causes proliferation of vascular smooth muscle
Poor prognosis

56
Q

Genetic disease associated with bilateral acoustic neuromas

A

Neurofibromatosis type II

Autosomal dominant mutation in NF2 (chromosome 22) that encodes protein merli

57
Q

Hypoplasia of the mandibular and zygomatic bones, hearing loss

A

Treacher-Collins syndrome

Abnormal development of the first and second pharyngeal arches

58
Q

“Floppy baby” with hypotonia and tongue fasciculations

A

Spinal muscular atrophy (Werdnig-Hoffman disease)
Mutation in survival motor neuron gene (SMN1) which encodes a protein involved in assembly of snRNPs in LMN –> defective snRNPs results in impaired splicesome function and congenital degeneration of the anterior horns of the spinal cord –> LMN signs

59
Q

N-myc

A

Neuroblastoma

60
Q

Dystonia, choreoathetosis, self-mutilation, hyperuricemia –> gout, intellectual disability

A

Lesch-Nyhan syndrome
X-linked recessive deficiency of hypoxanthine-guanine phorphoribosyltransferase (purine salvage pathway)

Tx: allopurinol or febuxostat (2nd line)

61
Q

Gait ataxia, spastic muscle weakness, loss of position and vibration sensation, kyphoscoliosis, pes cavus (high foot arches), diabetes, hypertrophic cardiomyopathy

A

Friedreich ataxia
Autosomal recessive trinucleotide repeat (GAA) mutation of FXN gene –> decreased expression leads to decreased mitochondrial energy production and increased oxidative stress –> degeneration of peripheral neural tracts

62
Q

Distal leg weakness/atrophy, sensory deficits, pes cavus, kyphoscoliosis, not hypertrophic cardiomyopathy

A

Charcot-Marie-Tooth disease

Autosomal dominant –> demyelination of peripheral nerves

63
Q

Myotonia (abnormally slow relaxation of muscles), cataracts, frontal balding, gonadal atrophy

A

Myotonic dystrophy
Autosomal dominant abnormal trinucleotide repeat expansion (CTG) that codes for a myotonia-protein kinase
Atrophy of type 1 muscle fibers

64
Q

Subdural hematomas, retinal hemorrhages, posterior rib fractures

A

Abusive head trauma (“shaken baby syndrome”)

65
Q

Black urine, blue-black discoloration of cartilage and skin

A

Alkaptonuria
Autosomal recessive defect in homogentistic acid dioxygenase
Also characterized by osteoarthropathy

66
Q

CA-19-9

A

Tumor marker for pancreatic adenocarcinoma

67
Q

TRAP

A

Tumor marker for hairy cell leukemia (B cells)

68
Q

Inappropriate laughter (“happy puppet”), seizures, ataxia, severe intellectual disability

A

Angelman syndrome

Microdeletion of maternal gene or paternal uniparental disomy

69
Q

Family history of early artherosclerotic disease and cardiovascular disease, tendon xanthomas (esp. Achilles)

A

Familial hypercholesterolemia

Defective or absent LDL receptor

USMLE Step 1 (20 decks)

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