Heritable Cancerous Conditions Flashcards

1
Q

MEN 1: gene, tumors

A

AD; MEN1 tumor suppressor LOF; pancreatic tumors (mostly gastrinoma), pituitary adenoma and parathyroid hyperplasia … (some lipomas)

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2
Q

MEN2A: gene, tumors

A

AD; RET proto-oncogene GOF; parathyroid hyperplasia, medullary thyroid cancer, pheochromocytoma

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3
Q

MEN2B: gene, tumors

A

AD; RET gene proto-oncogene GOF; medullary thyroid cancer; pheochromocytoma, marfanoid habitus, mucosal neuromas

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4
Q

Ataxia-telangiectasia: gene, syndrome

A

AR inheritance; ATM gene for DS break (ionizing radiation; x or gamma ray) repair; cerebellar atrophy w/ ataxia, oculocutaneous telangiectasia, immunodeficiency with sinopulmonary infections, increased cancer risk

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5
Q

Xeroderma Pigmentosum: gene, syndrome

A

AR inheritance; XPA gene for T dimerization nucleotide excision repair due to sun damage; premature skin aging and increased melanoma / SCC risk

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6
Q

Fanconi anemia: gene, syndrome

A

AR inheritance; many genes involved in homologous recombination to repair cross-linking; causes marrow failure, AML, solid tumors and developmental issues

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7
Q

Bloom syndrome: gene, syndrome

A

AR; mutations of BLM gene for DNA helicase > genomic instability via excessive crossover and sister chromatid exchanges; short stature, facial rash, narrow face, small jaw, big ears/nose, pigmentation issues, cafe au lait, telangiectasia; immune deficiency; predisposes to various cancers

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8
Q

HNPCC / Lynch syndrome; gene, syndrome

A

AD, mutations in MSH2, MLH1, MSH6 or PMS2 genes for mismatch repair

colon / endometrial carcinoma; GI adenomas; ovarian cystadenocarcinoma

(50-80% colon cancer risk)

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9
Q

Familial adenomatous polyposis; gene, tumors

A

AD; APC tumor suppressor (normally breaks down beta-catenin; high beta-catenin > transcriptional activation)

colorectal polyps/cancer (some gastric/duodenal)
desmoids + osteomas
brain tumors
thyroid tumors

(100% colon cancer risk)

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10
Q

Von Hippel-Lindau syndrome; gene, tumors

A

AD; VHL tumor suppressor

cerebellar hemangioblastomas, retinal hemangiomas

congenital CYSTS / TUMORS in KIDNEY, LIVER, PANCREAS

increased risk of CLEAR CELL RENAL CARCINOMA (maybe bilateral) and PHEOCHROMOCYTOMA

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11
Q

Li Fraumeni Syndrome; gene, tumors

A

AD; P53 tumor suppressor; sarcoma, breast cancer, brain tumors, adrenocortical adenoma, leukemia

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12
Q

Tuberous Sclerosis: inheritance + tumors

hints:
renal, cns, skin, heart … what kinds of tumors in each
and what non-tumorous lesions?

A

AD inheritance

kidney, liver, pancreas cysts

renal ANGIOMYOLIPOMA

BRAIN cortical tubers + subependymal HAMARTOMA

ASH-LEAF skin patches + cutaneous facial ANGIOFIBROMA

cardiac RHABDOMYOMA

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13
Q

NF1: inheritance + tumors

A

AD; neurofibromas, optic gliomas, Lisch nodules (pigmented iris lesion) and CAL spots (bilateral, smaller, assoc. with axillary/inguinal freckling)

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14
Q

NF2: inheritance + tumors

A

AD; bilateral acoustic neuromas; (multiple meningiomas, gliomas, SC ependymomas)

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15
Q

Peutz-Jeghers syndrome

mutation, tumors, colon cancer risk

A

STK11 mutation

colon cancer
upper GI cancer
pancreatic
breast

(40% colon cancer risk)

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16
Q

On what chromosome is VHL found?

A

Chromosome 3, small arm (3p)

deletion/inactivation causes:

Hemangioblastoma (cerebellar)
Renal carcinoma (clear cell)
Pheochromocytoma

(von Hippel got the HRP from unprotected sex…)

17
Q

What is the function of VHL gene?

consequence for treatment?

A

normally INHIBITS HYPOXIA INDUCIBLE FACTORS such as…

VEGF
PDGF

tx with ANGIOGENESIS INHIBITORS is useful

18
Q

on which chromosome is NF-1?

A

17

19
Q

on which chromosome is Rb?

tumors?

A

13

retinoblastoma
osteosarcoma

20
Q

on which chromosome is WT-1?

A

11

21
Q

What are the facial angiofibromas like in tuberous sclerosis? (derma description)

A

pink-yellow papules in butterfly distribution over nose, cheeks + nasolabial folds

22
Q

Tuberous sclerosis: cardiac tumor type and functional consequences of it

A

cardiac rhabdomyoma

LV hypertrophy with narrow outflow tract due to SEPTAL MASS

creates a systolic ejection murmur

23
Q

What is Gardner syndrome?

Hint: related to another familial cancer syndrome but with extra features

A

Familial Adenomatous Polyposis, plus…

  1. Bone + soft tissue tumors
  2. Retinal pigment epith. hypertrophy
  3. Teeth are impacted/supernumerary

(think Gaucher = sphingolipidosis w/ bone issues > Gardner = FAP w/ bone issues)

24
Q

What is Turcot syndrome?

Hint: related to other familial cancer syndromea but with extra features

A

FAP / HNPCC, plus…

Malignant CNS tumors - medulloblastoma, glioma

(think TURcot = TURban = head tumors)