Molecular Flashcards
AML with t(8;21)(q22;q22.1)
RUNX1-RUNX1T1
Diagnosis can be made with <20% blasts
Blasts usually large, often granulated with frequent Auer rods.
Dysgranulopoiesis is common
AML with inv(16)(p13.1.q22) or t(16;16)(p13.1;q22)
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.
t(15;17)(q24;q21.2)
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
AML with t(9;11)(p21.3;q23.3)
KMT2A-MLLT3
Blasts usually have monocytic features
AML with t(6;9)(p23;q34.1)
DEK-NUP214
variable blast morphology
basophilia in about half of cases
AML with inv(3)(q21.3q26.2) or t(3;3)q21.3;q26.2)
juxtaposing GATA2 & MECOM genes
Thrombocytosis may occur
Frequent background dysplasia especially in megakaryocytes
AML with t(1;22)(p13;q13.1)
RBM15-MKL1
Blasts have megakaryocytic features
Most often occurs in infants
AML with t(9;22)(q34;q11.2)
BCR-ABL
Provisional entity
De novo disease with no antecedent of concurrent evidence of CML
AML with mutated NPM1
Blasts often have monocytic features and “cup-shaped” nuclear contour, de novo disease
No defining cytogenetic features of AML-MRC
AML with biallelic mutations of CEBA
Biallelic (double) mutation of CEBPA
Can occur in setting of germline single CEBPA mutation; de novo disease
No defining cytogenetic features of AML-MRC
AML with mutated RUNX1
Provisional entity
Defined as a de novo disease
No definite cytogenetic features of AML-MRC
B-ALL with t(9;22)(q34.1;q11.2)
BCR ABL1 rearrangement
No specific morphology
Usually CD10+, often CD25+
Incidence increased with age
Uncommon in children
Adverse prognosis
B-ALL with t(v;11q23.3)
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
B-ALL with t(12;21)(p13.2;q22.1)
ETV6-RUNX1 rearrangement
No specific morphology
Usually CD34+ and CD20 negative
Most common in children >1 year of age
Rare in adults
Favorable prognosis
B-ALL with hyperdiploidy
> 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
B-ALL with hypodiploidy
<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)
B-ALL with t(5;14)(q31.1;q32.1
IGH-IL3 rearrangement
Marked increase in nonneoplastic bone marrow and blood eosinophils
Blats are CD10+
Affects both children and adults
Rare
Prognosis is uncertain
B-ALL with t(t1;19)(q23;p13.3)
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
B-ALL, BCR-ABL-like
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
B-ALL with iAMP21
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
Most common mutated gene BPDCN
TET2
