Heme Flashcards
AML with recurrent cytogentics?
t(8;21) RunX1-RUNXT1; good prognosis
t(15;17) PML-RARA; good
inv 16: CBFB-MYH1- good- eos grans
t(11q23) MLL- ; poor prognosis
t(1;22), t(6;19); t(8;16); inv 3; poor prognosis
2 Variant APLs?
t(11;17) PLZF-RARA: No response to ATRA
t(5;17) NPM1-RARA; maybe ATRA
ALL translocation by age group?
Infant
Kids
Adults
Infant: t(4;11) AFF1-MLL; poor
Child: t(12;21) ETV6-RUNX1; Cryptic; needs FISH or molecular
Adults: t(9;22); BCR-ABL; also CML
T-PLL translocations?
Hepatosplenic T-cell?
T-PLL: inv14 (80%); t(14;14) (10%)
Hepatosplinc; Iso (7q)
What are some common good and bad myeloma prognostic markers?
Good: Trisomy odd’s (except 13); and t(11;14)?
Bad: del13q, trisomy 13, 1q+, Del 17p (TP53), t(4;14) and t(14;16)
3 Burkitt Translocations?
t(8;14): MYC/IGH
t(2;8): IGK/MYC
t(8;22): MYC/IGL
Follicular?
Mantle?
Lymphoplasmacytic lymphoma?
Follicular: t(14;18): IGH/BLC2
Mantle: t(11;14); CCND1/IGH; can have blastic variants
Lymphoplasmacytic: t(9;14) PAX5/IGH
Anaplastic Large Cell (T-cell lymphoma) trans?
t(2;5); ALK-NPM1
MALT Translocations?
Stomach/lung?
BCL-10?
Thryroid, ocular adnexa, skin?
Stomach lung: t(11;18); API2-MALT1
1p22 BCL-10 and IGH t(1;14) and IGK t(1;2)
Thyroid, ocular adnexa, skin: t(3;14)
Deletations for prognosis in CLL/SLL?
Hypersomatic; good vs bad; stains?
17q TP53; Poor
11q: ATM; Poor
+12: Intermediate
Isolated 13q; good (miRNA 15a and 16-1)
Hypermutation=good, CD38+/ZAP70+ BAD!
Hans for DLBCL?
GCB good or bad?
GCB: good
Common genes mutated in MPN?
JAK2 V617F (Exon 14); activating mutation
BCR-ABL
Calreticulin
Exon 12 JAK2
MPL (ET 5%)
CML translocation?
APL?
t(9;22) BCR-ABL
t(15;17) PML-RARA
RUNX1 amplification in ALL, good or bad?
Bad! 1.5-2% childhood ALL; also seen in adults
Most common mutated gene in CHIP?
Other than JAK2 V617F what JAK2 mutations are found in MDS?
SF3B1 (MDS-RS) is what type of protein?
DMNT3A; DNA methyl transferase
Exon 12 mutations
Spliceosome gene for RNA
CALR type 1 vs type 2?
Type 1 52-bp deletion, exon 9; most common
Type 2: 5 bp insertion Exon 8
Which cell subset is best to look at Chimerism after transplant?
General question: What fold change in viral loads in considered significant?
CD33/CD66b myeloid cells
3-fold/ 0.5 log10
What genes are commonly mutated in AITL?
Overexpressed in ALK+ ALCL?
Sezary?
AITL: IDH2, TET2, DNMT3A, and RHOA
ALCL: BLC6, CEBPB, PNPN12, SERPINA1
Sezary: PLCG1, CD28, TRSF1B
Order of genes involved in myeloproliferative neoplasms?
Which one of these genes is absent in PV?
Which gene has good prognostic effects in MF and ET?
JAK2 V617F, CALR exon 9, MPL W515K/L
JAK2 exon 12 not needed to be tested for
PV lacks CALR mutations in studies
MF/ET: CALR is good prognosis
ROC is plotted as?
What platforms have issues with homopolymers causing indel artifacts?
Sensitivity (TP) vs false positive (Y axis 1-sensitivity)
Pyrosequencing and Ion Torrent
Some mutations in CML that affect TKI therapy?
How does JAK2 V167F mutation work?
T315I (1st and second gen resistance) and E225K (can use second generation)
Disrupts auto inhibitory loop; activating; EpoR appears occupied
Chroms and Chromatids:
End of Mitosis?
End of Meiosis I?
End of Meiosis II?
End of mitosis: (46/46) (92/92 in middle)
End of Meiosis I (23/46); (46/92 in middle)
End of Meiosis II (23/23); (46/46 in middle)
What gene can be used to monitor some AML’s but can disappear in relpase?
GATA2 is associated with what other mutation in AML?
Down’s megakaryocytic leukemia has what mutations?
NPM1
Biallelic CEBPA (33%); Less common monoallelic CEBPA (5%)
GATA1
T-PLL markers that are positive?
Genetic findings?
TCL1 onoprotein over expression, CD4+ (mostly), CD52+, pan T-cell, negative CD34, Tdt and CD1a
Inv(14)(q11q32); TCL1 into promoter of TCRa/gama
Del(11) in ATM deletion
STAT5B mutation
T-PLL morphology in blood?
Prognosis?
Medium sized cell with condensed chromatin and 1 nuclei with blue more abundant than lymps cytoplasm with blebs
Poor with rapidly rising WBC
