Mutations Flashcards
(25 cards)
MDS
chromosomal abnormalities
recurrent cytogenic abnormalities w/diseases & prognoses
t(8,21) AML1/ETO favorable
inv(16) CBFBeta/MYH11 favorable
t(15,17) PML/RARalpha favorable
11q23 rearrangements unfavorable
Langerhans cell histiocytosis
CD1a. langerin
BRAF mutations
CML
t(9,22), BCR-ABL, constitutively active kinase
PV
JAK2, tyrosine kinase
PMF
JAK2, tyrosine kinase
ET
JAK2, tyrosine kinase
AML w/cytogenic abnormalities
t(8,21)
inv16
t(15,17)
11q23 (MLL)
What gene does APL affect? Result?
t(15,17)
generates PML-RARalpha
maturation arrest at promyelocyte stage
AML w/myelodysplasia-related changes
monosomy 7/del(7q)
monosomy 5/del(5q)
complex karyotypes
Topoisomerase II inhibitor-related AML
11q23 (MLL)
Alkylating agent related AML/MDS
aberrancies of chromosomes 5 & 7
Langerhans cell tumors
BRAF serine/threonine kinase
B-ALL (2)
t(12,21) most common in kids
t(9,22) poor prognosis
T-ALL
NOTCH1
CLL/SLL
trisomy 12
deletions of 11q, 13q & 17p
CLL/SLL with worse prognosis?
11q &17p deletions
Burkitt lymphoma
t(8,14)
c-myc
Diffuse large B-cell lymphoma
BCL6 or
BCL2 or
c-myc
Extranodal marginal zone lymphoma
t(11,18) MALT 1
t(1,14) IAP2
t(14,18) BCL10-IgH
Follicular Lymphoma
t(14,18) BCL2-IgH
Mantle cell lymphoma
t(11,14) CyclinD1-IgH fusion
Peripheral T cell lymphoma, unspecified
no specific abnormalities
Anaplastic large-cell lymphoma
ALK rearrangements
