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Residency Boards > Molecular > Flashcards

Molecular Flashcards

1
Q

Translocation in epithelioid hemangioendothelioma

A

t(1;3) WWTR1-CAMTA1 gene fusion

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2
Q

Leukemia with BRAFV600E

A

Hairy cell leukemia

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3
Q

AML with t(8;21)

A

RUNX1

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4
Q

Translocation infantile fibrosarcoma

A

t(12;15) fusion ETV6-NTRK3

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5
Q

MEN-1 syndrome

A

Parathyroid hyperplasia
Pituitary adenoma
Pancreatic islet cell tumor

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6
Q

Alveolar soft part sarcoma

A

DerXt(X;17) TFE3-ASPL

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7
Q

Clear cell sarcoma (melanoma of Soft Parts)

A

t(12;22) EWSR1-ATF1

Or alternate fusion t(2;22) EWSR1-CREB1

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8
Q

Desmoplastic small round blue cell tumor

A

t(11;22) EWS-WT1

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9
Q

What are the minimum genes that must be tested in lung adenocarcinoma?

A

EGFR, ALK, ROS1

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10
Q

what salivary gland neoplasm shows EWSR1-ATF1 fusion?

A

hyalinizing clear cell carcinoma

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11
Q

what salivary gland neoplasm shows translocations in PLAG1 or HMGA2?

A

PA

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12
Q

what salivary gland neoplasm shows t(11;19) MAML2 rearrangement

A

mucoep

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13
Q

what salivary gland neoplasm shows t(6;9) leading to MYB overexpression?

A

adenoid cystic

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14
Q

what salivary gland neoplasm shows ETV6-NTRK3 fusino due to t(12;15)?

A

Mammary carcinoma

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15
Q

Name 2 egfr mutations associated with sensitivity to TKIs gefitinib and erlotinib

A

Exon 19 deletions

Missense exon 21 (L858R)

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16
Q

Name 2 egfr mutations with resistance to TKIs

A

Deletions in exon 20

T790M

17
Q

What is alagille syndrome and what gene is mutated?

A

Bile duct paucity
May also have cardiac abnormalities
JAG1 gene

18
Q

Which RNA pol produces mRNA

A

RNA pol II

19
Q

Amount of DNA produced under optimal PCR conditions

A

2^n

10 fold amplification every 3.3 cycles (2^3.3=10)

20
Q

Which cytochrome p450 affects metabolism of codeine and tricyclic antidepressants?

A

CYP2D6

21
Q

Which cytochrome p450 affects metabolism of warfarin and phenytoin?

A

CYP2C9

22
Q

What is caroli disease

A

Segmental dilation of intraheptic bile ducts, recurrent stone formation and bacterial cholangitis

23
Q

2 features of schwachman-diamond syndrome

A

Marrow failure

Exocrine pancreatic insufficiency

24
Q

Genetic finding in meningioma

A

Monosomy chr 22

25
Q

genetic finding in embryonal rhabdomyosarcoma

A

11p15 LOH

Residency Boards (9 decks)

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