Molecular Flashcards

1
Q

The ETV6-NTRK3 translocation is associated with which of the following ?

A

t(12;15) translocation-

Congenital mesoblastic nephroma
Infantile fibrosarcoma
Salivary gland MASC
Secretory of the breast

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2
Q

EWSR1 rearrangement is seen in which salivary gland carcinoma

A

Hyalinizing clear cell carcinoma

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3
Q

Clear cell meningioma is associated with a germ line mutation of which of the genes ?

A

SMARCE1 - asso with spinal and cranial clear cell meningioma

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4
Q

EGFR inhibitors and resistance

A

Resistance to EGFR- TKIs is due to emergence of T790M mutation

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5
Q

What is EGFR L858R mutation associated with

A

Sensitivity to EGFR inhibitor

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6
Q

What type of mutation in GIST is associated with primary resistance to therapy with imagining?

A

PDGFRA D842V mutation leads to imatinib resistance…..

KIT exon 11 and 9 mutations typically have good response to imatinib.

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7
Q

What is the most common recurrent alteration in lung squamous cell carcinoma with a potential for targeted therapy ?

A

FGFR1 in 17% of squamous cell ca lung.

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8
Q

Rearrangement seen in Hibernoma

A

11q13-21 in hibernoma

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9
Q

Rearrangements in aneurysmal bone cyst of soft tissue

A

USP6 rearrangements (17p13)

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10
Q

Mesenchymal chondrosarcoma fusion

A

Head and neck of young people HEY1-NCOA2 fusion due to del(8)(q13.3q21.1).

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11
Q

Neurofibroma in NF 2 shoes inactivation of

A

CDKN2

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12
Q

Most common mutation in NIFTP?

A

RAS is most common

THADA and PAX8/PPARG also seen but less common

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13
Q

Mutation in which of the following genes would be expected to be present in sinonasal mucosal melanoma?

A

KIT 25% of mucosal melanomas , 6-8% of cutaneous and less than 1 % uveal melanomas

BAP1, GNAQ and GNA11- seen in uveal melanomas

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