Hemepath

Question 1

Most common and atleast one bad prognosis translocation in ALL ….

Answer 1

Most common t(12;21) (p13;q22)

Worst prognosis t(4;11) (q21;q23) {MLL- [AF4]AFF1 fusion}- high relapse rate and poor outcome

Question 2

Classic translocation in ALCL.

Answer 2

Seen in 80%

t(2;5) (p23;q35) NPM at 5q35 fusion with ALK gene at 2p23.

ALK rearranged ALCL - favorable prognosis

ALK neg ALCL - poor prognosis

Question 3

Prognosis based on ploidy in ALL

Answer 3

Hyperdiploid ALL groups - respond well to standard chemotherapy

Hypodiploid ALL groups - progressively worse outcome with decreasing chromosome numbers, even after rx with intensive protocols.

Near-haploid karyotype - short complete remission and a dismal prognosis

Question 4

AML with morphology based on cytogenetic changes :

1. (8;21) (q22;q22)-
2. Inv(16) (p13q22)-
3. t(4;11) (q21;q23)-
4. t(15;17) (q24;q21)-
5. Inv(3) (q21q26)-

Answer 4

1. (8;21) (q22;q22)- AML with auer rods and dysplastic granulocytes. RUNX1-RUNX1T1 fusion- favorable prognosis.
2. Inv(16) (p13q22)- eosinophils + nuclear blend and auer rods. CBFB/MYH11 fusion- favorable prognosis
3. t(4;11) (q21;q23)- pediatric AML. Monocytic morphology, leukocytosis, previous chemo, poor prognosis
4. t(15;17) (q24;q21)- APML
5. Inv(3) (q21q26) - dysplastic megakaryocytes and increased platelets. Activation and overexpression of EVI1 gene - Independant rusk factor - intermediate risk group.

Question 5

AML or ALL - which is more common ?

Answer 5

AML - 70% of acute leukemias

Question 6

Burkitt lymphoma - common and variant translocations ?

Answer 6

t(8;14)(q24;q32) - 75-85% of cases

Remaining 15-25%:-
t(8;22) (q24;q11.2) IGL with MYC

t(2;8) (p12;q24) IGK with MYC

ASSOCIATED 1q duplication - seen in progressed BL

Question 7

Extranodal MZL of MALT lymphoma chromosomal aberrations

Answer 7

t(11;18) (q21;q21) BIRC3-MALT1 fusion 50% - stomach and lung

t(14;18) (q32;q21) 11% - liver and ocular adnexa ( 🤷‍♀️ same as FL)

t(1;4) (p22;q32) < 2%

Translocation neg MALT lymphomas - trisomy of long arms of chromosomes 3 and 18

Question 8

Poor prognosis gene mutations in MDS e. g.

Answer 8

ASXL1 - 15-25% of cases, independent poor risk, CHIP+CCUS+
DNMT3A - 12-18%, adverse risk, seen in AML, CHIP and CCUS
RUNX1 - 10-15%, independent poor risk, platelet abnormalities +, predisposed yo develop AML
SRSF2 - 10-15% of cases. Poor prognosis.

IDH1/IDH2: 5%, prognosis NOT KNOWN

Question 9

What chromosomal abnormality is seen in AML with NPM1 mutation ?

Answer 9

None, normal karyotype

NPM1 also with monocytic diff, seen in AML with and without maturation and pure erythroid leukemia

Question 10

Lymphoplasmacytic lymphoma has

Answer 10

MYD88 ~ 90%

CXCR4 ~ 30%

Question 11

AML with NPM1 mutation is associated with what karyotype ?

Answer 11

NORMAL karyotype

Usually associated with monocytic diff
AML with and without maturation and pure erythroid leukemia

Question 12

Mutations seen in LPL

Answer 12

MYD88 L265P mutations in > 90%

~ 30% have truncating mutations in the CXCR4 gene - associated with greater resistance to ibrutinib

Question 13

In AML with t(8;21), the presence of CD56 positivity in the blast population is associated with ?

Answer 13

Presence of KIT mutations.

Imparts worse prognosis

Question 14

ATLL immunophenotype

Answer 14

CD3+, CD4+, CD25+, loss of CD7

Question 15

Primary Mediastinal (thymic) B cell lymphoma

• sex pred
• immunophenotype
• CD30 exp status
• RS cells

Answer 15

• sex pred: female
• immunophenotype : CD19+, CD20&22+, CD79a+, lacks immunoglobulin
• CD30 exp status : > 80% cases express CD30
• RS cells : not readily apparent

Question 16

Which IHC marker is best for MRD detection in hairy cell leukemia?

Answer 16

DBA44
( also pos in HCL variant)

Others:
annexin A1 : most specific for HCL but stains myeloid stains T cells
Cyclin D1: weak and also stains plasma cells

Question 17

Gamma/delta Tcell lymphocytosis immunophenotype

Answer 17

CD3+ bright, CD4-, CD5 (dim/partial), CD7+, CD8+, TCR a/b -, TCR g/d +
asso with infection, AI disorders, splenectomy or lymphoproliferative disorders

Question 18

What finding would be most helpful in differentiating an ALCL , ALK neg from a CD30 + PTCL, NOS?

Answer 18

The presence of “Hallmark cells “