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Hemepath > Molecular > Flashcards

Molecular Flashcards

1
Q

AML with t(8;21)(q22;q22.1)

A

RUNX1-RUNX1T1

Diagnosis can be made with <20% blasts

Blasts usually large, often granulated with frequent Auer rods.

Dysgranulopoiesis is common

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2
Q

AML with inv(16)(p13.1.q22) or t(16;16)(p13.1;q22)

A

CBFB-MYH11

Diagnosis can be made with <20% blasts

Blasts usually have myelomonocytic features.

Increased bone marrow (but not blood) eosinophils with abnormal mixed eosinophilic-basophilic granules.

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3
Q

t(15;17)(q24;q21.2)

A

Acute promyelocytic leukemia with PML-RARA
(can have variants)

Diagnosis can be made with <20% blasts

Numerous promyelocytes with Auer rodes

Microglandular variant with bilobed nuclei

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4
Q

AML with t(9;11)(p21.3;q23.3)

A

KMT2A-MLLT3

Blasts usually have monocytic features

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5
Q

AML with t(6;9)(p23;q34.1)

A

DEK-NUP214

variable blast morphology

basophilia in about half of cases

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6
Q

AML with inv(3)(q21.3q26.2) or t(3;3)q21.3;q26.2)

A

juxtaposing GATA2 & MECOM genes

Thrombocytosis may occur

Frequent background dysplasia especially in megakaryocytes

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7
Q

AML with t(1;22)(p13;q13.1)

A

RBM15-MKL1

Blasts have megakaryocytic features

Most often occurs in infants

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8
Q

AML with t(9;22)(q34;q11.2)

A

BCR-ABL

Provisional entity

De novo disease with no antecedent of concurrent evidence of CML

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9
Q

AML with mutated NPM1

A

Blasts often have monocytic features and “cup-shaped” nuclear contour, de novo disease

No defining cytogenetic features of AML-MRC

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10
Q

AML with biallelic mutations of CEBA

A

Biallelic (double) mutation of CEBPA

Can occur in setting of germline single CEBPA mutation; de novo disease

No defining cytogenetic features of AML-MRC

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11
Q

AML with mutated RUNX1

A

Provisional entity

Defined as a de novo disease

No definite cytogenetic features of AML-MRC

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12
Q

B-ALL with t(9;22)(q34.1;q11.2)

A

BCR ABL1 rearrangement

No specific morphology
Usually CD10+, often CD25+

Incidence increased with age
Uncommon in children

Adverse prognosis

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13
Q

B-ALL with t(v;11q23.3)

A

KMT2A rearrangement (variant partners)

No specific morphology
Usually CD10 negative

Most common in infants <1 year of age
Also seen in older adults

Adverse prognosis

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14
Q

B-ALL with t(12;21)(p13.2;q22.1)

A

ETV6-RUNX1 rearrangement

No specific morphology
Usually CD34+ and CD20 negative

Most common in children >1 year of age
Rare in adults

Favorable prognosis

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15
Q

B-ALL with hyperdiploidy

A

> 50 chromosomes
extra copies of 4,14, 21 and X are most common

No specific morphology
CD34+ and often CD45 negative

Most common in children
Uncommon in adults

Favorable prognosis

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16
Q

B-ALL with hypodiploidy

A

<46 chromosomes

Subdivided based on # of chromosomes

    • near diploid (44-45)
    • high hypodiploid (40-43)
    • low hypodiploid (33-39)
    • near haploid (23-29)

Affect both children & adults

Adverse prognosis (near haploid subgroup has worst prognosis)

17
Q

B-ALL with t(5;14)(q31.1;q32.1

A

IGH-IL3 rearrangement

Marked increase in nonneoplastic bone marrow and blood eosinophils
Blats are CD10+

Affects both children and adults

Rare

Prognosis is uncertain

18
Q

B-ALL with t(t1;19)(q23;p13.3)

A

TCF3-PBX1 rearrangement

No specific morphology

Usually Cd34 negative with cytoplasmic mu heavy chain expression

More common in children than adults

Prognosis relative to other B-ALL uncertain

19
Q

B-ALL, BCR-ABL-like

A

Provisional entity

Gene expression profile similar to B-ALL with BCR-ABL
CRLF2 rearrangement or rearrangement or mutation of various kinases

Incidence increases with age

Adverse prognosis but some cases are sensitive to tyrosine kinase inhibitors

20
Q

B-ALL with iAMP21

A

Amplification (multiple extra copies) of RUNX1 locus on chromosome 21 detected by FISH

No specific morphology or immunophenotype

More common in children than adults

Adverse prognosis may be ameliorated by more intensive therapy

21
Q

Most common mutated gene BPDCN

A

TET2

Hemepath (2 decks)

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