Leukemia/Lymphoma Translocations & Immunophenotypes Flashcards Preview

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Flashcards in Leukemia/Lymphoma Translocations & Immunophenotypes Deck (20):
1

Acute Myeloid Leukemia (AML) - Genetics (2)

1. Normal cytogenetics (do more testing; FLT3-ITD = allograft)
(+)CD-33, CD-34, CD-117

2. RUNX1-RUNX1T1 - t(8;21)
(+) CD-13/33/34, HLA-DR

2

Acute Promyelocytic Leukemia (PML) - Genetics

PML-RAR-α fusion - t(15:17)
(+)CD-13, CD-33, HLA-DR
(-)CD-34

3

Chronic myelomonocytic leukemia (CMML) - Genetics

CBFB-MYH11 fusion – inv(16)
(+) CD-34/117 in blasts
(+) CD-13/33 in granulocytes
(+) CD-14/11b in monocytes

4

B-type Acute Lymphoblastic Leukemia (B-ALL) - Genetics (3)

1. BCR-ABL1 fusion – t(9:22) -or- IKZF1 transcription factor mutation
(+)CD-10, CD-19, Tdt

2. MLL rearranged – t(11;19)
(+)CD-19, Tdt

3. TEL-AML1 or ETV-RUNX1 – t(12:21)
(+)CD-34/10, Tdt
(-)CD-20

5

T-type Acute Lymphoblastic Leukemia (T-ALL) - Genetics

TCR-alpha;HOX11 – translocation to chr.14
(+)CD-3, CD-5, Tdt

6

Hairy Cell Leukemia

BRAF V600F mutation
(+)CD-19,20,22,11c,25,103

7

Chronic Myelogenous Leukemia (CML)

BCR-ABL fusion gene – t(9;22) or +Ph

8

Mastocytosis

C-KIT mutation -or- PDFR-RA – t(F1-P1)
(+)CD-25, CD117: this is also known as c-KIT, which is the receptor for SCF, which stimulate mast cell growth and migration

9

Polycythemia vera

JAK2-V617F mutation

10

Essential Thrombocytopenia

JAK2 (50%) -or- Calreticulin (25%) mutation

11

Primary myelofibrosis

JAK2 mutation (TPO receptor downstream signal) is constitutively turned on (50%)

12

Myelodysplastic syndrome with isolated del(5q)

ONLY loss of large arm of chromosome 5 (karyotype will show this)

13

Refractory anemia with excess blasts

RAEB-1 mutation (5-9% morphologic blast formation)
-or- RAEB-2 mutation (10-19% morphologic blast formation)
(+)CD34/117

14

Chronic lymphocytic leukemia/lymphoma (CLL/SLL)

80% will show by FISH…
- 13q deletion (good prognosis)
- trisomy 12 (bad prog.)
- 17p (p53) deletion (bad prog.)
- 11q deletion (bad prog)

- (+)CD-20/23/5/52
- Light chain restricted (either kappa OR lambda)
- If ZAP-70 or CD-38 are shown the prognosis is bad (sign of somatic hypermutation)

15

Mantle cell lymphoma

IgH-Cyclin D – t(11:14)
- (+)CD-20/5
- (-) CD-23
- Light chain restricted
- Staining with Ki67 is characteristic because it stains cells with rapid mitotic rate (marker for very fast growth!)

16

Burkitt lymphoma

MYC oncogene to IgH (8:14), Kappa (8:2), or Lambda (8:22) light chain genes

- (+)CD19, 20, 22, 79
- Ki-67 positive

17

MGUS/Smoldering lymphoma/Myeloma Bone Disease

IgH fusion protein seen in FISH (66%)
- IgH-FGFR3 (14:4)
- IgH-CMAF (14:16)
- IgH-MAFB (14:20)
- 17p deletion (p53) – not good if present, poor prognosis

(+)CD-38/138
(-)CD-19/20
Light Chain restricted

18

Follicular Lymphoma

t(14:18) IgH-Bcl-2 (>85%)
(+)BCL-2 is most characteristic
(+)BCL-6, CD-19/20/10

19

Diffuse large B-cell lymphoma

IgH-BCL fusion t(14:18) -or- BCL-6 fusion gene t(v:3)

(+)CD-19/20/10
(+)BCL-2/BCL-6

20

Hodgkin's Lymphoma (2)

Classic: (+) CD-30/15/Pax-5; (-)CD-20

Lymphocyte predominant: (+) CD-20/Pax-5; (-) CD-30/15