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Boards > Familial Syndromes > Flashcards

Familial Syndromes Flashcards

1
Q

Colorectal, Endometrial, Ovarian

Pathogenesis

A

Lynch (NPCCS) - MLH1, MSH2

Inactivate tumor suppressor –> malignant transformation

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2
Q

Colorectal, brain tumors, desmoids, osteomas

A

FAP - APC

Inactivate tumor suppressor –> malignant transformation

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3
Q

Hemangioblastoma, Pheo, Clear cell RCC

A

VHL

Inactivate tumor suppressor –> malignant transformation

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4
Q

Sarcomas, breast, brain, adrenocortical, leukemia

A

Li-Fraumeni - P53

Inactivate tumor suppressor –> malignant transformation

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5
Q

MEN2 - gene?

How is the pathogenesis of this different from the others?

A

RET

ACTIVATING mutation of PROTO-ONCOGENE –> Continuous stimulation

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6
Q

Parathyroid, pituitary, pancreas

A

MEN1 - MEN1

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7
Q

Medullary thyroid, parathyroid, pheo

A

MEN2a - RET

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8
Q

Medullary thyroid, pheo, mucosal neuromas

A

MEN2b - RET

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9
Q

Neurofibromas

Optic nerve gliomas

A

NF1

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10
Q

Meningiomas

Cranial nerve schwannomas

A

NF2

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11
Q

Cortical, subependymal hamartomas
Cutaneous angiofibromas (sebacious adenoma)
Renal angiomyolipoma
Cardiac rhabdomyoma

A

Tuberous sclerosis - Hamartin or Tuberin

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12
Q

Osler-Weber-Rendu…other name?

A

Hereditary Hemorrhagic Telangiectasias

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13
Q

Cutaneous facial angiomas
Leptomeningial angiomas
Tram track calcifications

A

Sturge-Weber syndrome (encephalotrigeminal angiomatosis)

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14
Q

Familial adenomatous polyposis
Fibromatosis of retroperitoneum
Osteomas of facial bone

A

Gardner syndrome

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