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Boards > Key Features: Cancer & Cardiac > Flashcards

Key Features: Cancer & Cardiac Flashcards

1
Q

Carney Complex

A

Myxomas, psammomatous melanotic schwannoma, spotty skin

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2
Q

HBOC

A

Breast, ovarian, pancreatic, prostate <50

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3
Q

FAP

A

Hundreds of polyps

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4
Q

HNPCC

A

Colon, uterine, ovarian, other GI

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5
Q

Gardner Syndrome

A

FAP with desmoid tumors

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6
Q

Li-Fraumeni

A

Adrenocortical carcinoma, Choroid Plexus Carcinoma, Sarcoma, Breast <35

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7
Q

MEN1

A

Parathyroid, Pituitary, Pancreatic (3 P’s!)

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8
Q

MEN2A

A

Medullary thyroid cancer (MTC), pheo

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9
Q

MEN2B

A

MTC at very young age, pheo, Marfanoid habitus, mucosal neuromas

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10
Q

NF2

A

Bilateral vestibular schwannoma

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11
Q

PTEN

A

Breast, uterine, thyroid, macrocephaly, autism, penile freckling

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12
Q

Lhermitte-Duclos (PTEN)

A

Dysplastic gangliocytoma of the cerebellum

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13
Q

Tuberous-Sclerosis Complex

A

Cardiac rhabdomyoma, shagreen patch, “confetti” skin

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14
Q

VHL

A

Clear cell renal cancer, renal and pancreatic cysts, pheo/pgl

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15
Q

Arrhythmia/Cardiomyopathy

A

Sudden death, fainting, symptoms with exercise or surprise/strong emotion

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16
Q

CADASIL

A

AD, strokes

17
Q

Jervell and Lange-Nielsen Syndrome

A

AR LQTS with deafness

18
Q

Timothy Syndrome

A

LQTS with autism/ID

19
Q

HHT Telangiectasias

A

nose bleeds, AVMs

20
Q

Chromosomal Breakage Disorders

A

Increased risk for cancer, sensitivity to ionizing radiation (Cockayne excluded)

21
Q

Ataxia-Telangiectasia

A

literally what the name says, plus dysarthria

22
Q

Bloom

A

Small stature, high-pitched voice, butterfly skin lesions

23
Q

Cockayne Syndrome

A

Cachectic dwarfism, premature aging, neurologic deterioration w/ early death

24
Q

Fanconi Anemia

A

Skeletal abnormalities (thumbs/fingers esp), short stature, pancytopenia

25
Q

Werner

A

Premature aging, early onset of age-associated diseases (diabetes, atherosclerosis, etc)

26
Q

Xerdoerma Pigmentosum

A

Sun is bad, skin cancer

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