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Molecular Boards > Heme > Flashcards

Heme Flashcards

1
Q

AML with recurrent cytogentics?

A

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

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2
Q

2 Variant APLs?

A

t(11;17) PLZF-RARA: No response to ATRA

t(5;17) NPM1-RARA; maybe ATRA

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3
Q

ALL translocation by age group?

Infant

Kids
Adults

A

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

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4
Q

T-PLL translocations?

Hepatosplenic T-cell?

A

T-PLL: inv14 (80%); t(14;14) (10%)

Hepatosplinc; Iso (7q)

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5
Q

What are some common good and bad myeloma prognostic markers?

A

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)

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6
Q

3 Burkitt Translocations?

A

t(8;14): MYC/IGH

t(2;8): IGK/MYC

t(8;22): MYC/IGL

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7
Q

Follicular?

Mantle?

Lymphoplasmacytic lymphoma?

A

Follicular: t(14;18): IGH/BLC2

Mantle: t(11;14); CCND1/IGH; can have blastic variants

Lymphoplasmacytic: t(9;14) PAX5/IGH

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8
Q

Anaplastic Large Cell (T-cell lymphoma) trans?

A

t(2;5); ALK-NPM1

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9
Q

MALT Translocations?

Stomach/lung?

BCL-10?

Thryroid, ocular adnexa, skin?

A

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)

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10
Q

Deletations for prognosis in CLL/SLL?

Hypersomatic; good vs bad; stains?

A

17q TP53; Poor

11q: ATM; Poor

+12: Intermediate

Isolated 13q; good (miRNA 15a and 16-1)

Hypermutation=good, CD38+/ZAP70+ BAD!

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11
Q

Hans for DLBCL?

GCB good or bad?

A

GCB: good

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12
Q

Common genes mutated in MPN?

A

JAK2 V617F (Exon 14); activating mutation
BCR-ABL
Calreticulin
Exon 12 JAK2
MPL (ET 5%)

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13
Q

CML translocation?

APL?

A

t(9;22) BCR-ABL

t(15;17) PML-RARA

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14
Q

RUNX1 amplification in ALL, good or bad?

A

Bad! 1.5-2% childhood ALL; also seen in adults

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15
Q

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?

A

DMNT3A; DNA methyl transferase

Exon 12 mutations

Spliceosome gene for RNA

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16
Q

CALR type 1 vs type 2?

A

Type 1 52-bp deletion, exon 9; most common
Type 2: 5 bp insertion Exon 8

17
Q

Which cell subset is best to look at Chimerism after transplant?

General question: What fold change in viral loads in considered significant?

A

CD33/CD66b myeloid cells

3-fold/ 0.5 log10

18
Q

What genes are commonly mutated in AITL?

Overexpressed in ALK+ ALCL?

Sezary?

A

AITL: IDH2, TET2, DNMT3A, and RHOA

ALCL: BLC6, CEBPB, PNPN12, SERPINA1

Sezary: PLCG1, CD28, TRSF1B

19
Q

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?

A

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

20
Q

ROC is plotted as?

What platforms have issues with homopolymers causing indel artifacts?

A

Sensitivity (TP) vs false positive (Y axis 1-sensitivity)

Pyrosequencing and Ion Torrent

21
Q

Some mutations in CML that affect TKI therapy?

How does JAK2 V167F mutation work?

A

T315I (1st and second gen resistance) and E225K (can use second generation)

Disrupts auto inhibitory loop; activating; EpoR appears occupied

22
Q

Chroms and Chromatids:
End of Mitosis?

End of Meiosis I?
End of Meiosis II?

A

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)

23
Q

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?

A

NPM1

Biallelic CEBPA (33%); Less common monoallelic CEBPA (5%)

GATA1

24
Q
A
25
Q

T-PLL markers that are positive?

Genetic findings?

A

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

26
Q

T-PLL morphology in blood?

Prognosis?

A

Medium sized cell with condensed chromatin and 1 nuclei with blue more abundant than lymps cytoplasm with blebs

Poor with rapidly rising WBC

Molecular Boards (7 decks)

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