Genetic Mutations/Translocations and Prognostic Markers in Heme Malignancies Flashcards
t(9;22)
CML, 25% of ALL (Philadelphia Chromosome)- worst prognosis
11q23 MLL
B-ALL in neonates especially- poor prognosis, Can also present in AML with poor prognosis, and secondary to t-AML from topo-II inhibitors, very poor prognosis.
t(12;21) ETV6-RUNX1
B-ALL, very favorable prognosis
t(8:21) RUNX1-RUNX1T1
5% of AML cases, encodes alpha unit of core binding factor (CBF), good prognosis
inv(16)(p13.1;q22) or t(16;16)(p13.1;q22)
5-10% of AML, myelomonocytic leukemia characteristic baso eos, encodes beta subunit of core binding factor (CBF), relatively good prognosis
t(15:17) PML-RARA
Acute Promyelocytic Leukemia- abnormal promyelocytes predominate instead of blasts
Treatment: all-trans retinoic acid (ATRA)+ arsenic to allow for differentiation
t(1:22) RBM15-MKL1
AML, phenotype with megakryoblastic differentiation, most often seen in infants with Down syndrome, relatively good prognosis.
Whole/partial loss of chromosome 5 and/or 7
t-AML (therapy-related), very poor prognosis
FLT3 ITD
Internal tandem duplications of the FLT3 gene, negative prognostic factor for AML, NOS
NPM1
Nucleophospmin-1 mutation, positive prognostic factor for AML, NOS in the absence of FLT3 ITD
CEBPA
CCAAT/enhancer-binding protein alpha, positive prognostic factor for AML, NOS in the absence of FLT3 ITD
MDS karyotypes
monosomy ch 7, deletion 7q, monosomy ch 5, deletion 5q, trisomy 8
JAK 2 mutations
Causative or at least correlative with polycythemia vera (V617F), ~50% of primary myelofibrosis, ~50% of essential thrombosis cases.
Deletion of 13q14
Common genetic alteration in CLL/SLL >50%
t(14:18)
BCL2 translocation common in 75-90% of Follicular Lymphoma.
