Cytogenetics Lecture Flashcards

1
Q

Myeloproliferative neoplasms mutation

A

JAK2 V617F

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2
Q

Mastocytosis

A

c-KIT mutation

Resistant to imatinib

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3
Q

CML

A

t(9;22)
BCRABL fusion protein
Deregulation of tyrosine kinase

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4
Q

Major break point of CML

A

M-BCR p210

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5
Q

Minor break point of CML

A

m-BCR p190 (adult ALL)

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6
Q

Gleevec mechanism of action

A

Imatinib

Tyrosine kinase inhibitor

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7
Q

Mechanism of choice for monitoring CML

A

RT-PCR

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8
Q

MDS favorable mutations

A

5q-, 20q-, Y-, TET2 mutation

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9
Q

MDS unfavorable mutations

A

7q-, complex

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