genes Flashcards
Trisomy 12q
C/SLL (chronics,small lymphocytic leukemia)
Histone acetyltransferase mutations (p300, CREBP).
DLBCL (diffuse large B cell lymphoma)
T(11:14)*** cyclin D1/IgH
mantle cell lymphoma (MCL)
T(8:14) MYC/Ig heavy chain
- Burkitt lymphoma
- DLBCL (diffuse large B cell lymphoma) (myc mutation)
breakpoint on IgH locus
(both) burkitt lymphoma
t(11q23:v) MLL
- an AML w genetic abbr
- or an AML therapy related
5q-, 7q-, 20q- abbr
AML w MDS-like features: with MDS-like cytogenic abbrs
TAX protein
Adult T-cell Leukemia/Lymphoma
- REL protooncogene (ch. 2p) often gained that increase NFkB.
- CD 15, 30, 40 (+)
RS cell immunophenotype
LoF in EBF
B-ALL (bcell acute lymphobalstic leukemia)
ALK* rearrangement on chromosome 2p23
Anaplastic Large Cell Lymphoma
Epigenetic alts: DNA methylation and posttranslational modification of histones is altered.
AML, Myelodysplastic syndromes (MDS)
reed sternberg cells
Hodgkins lymphoma
=Large, aneuploid B cells with multiple nuclei or a single nucleus with multiple lobes and inclusion-like nucleolus and Clearing around the nucleoli
t(14:18)
marginal zone lymphoma can acquire this
T(14:18) BCL2/Ig heavy chain
- follicular lymphoma
- DLBCL (diffuse large B cell lymphoma) if came from follicular lymphoma
Chromosomal translocations are rare
C/SLL (chronics,small lymphocytic leukemia)
LoF in PAX5
B-ALL (bcell acute lymphobalstic leukemia)
BCL6
Richter synd (from C/SLL (chronics,small lymphocytic leukemia))
translocated cyclin D1 and D3
multiple myeloma (plasma cell myeloma)
t(11:18)
marginal zone lymphoma can acquire this
MPL mutation
-Essential Thrombocytosis (ET)
Trisomy 8
Myelodysplastic syndromes (MDS)
RNA splicing mutations
C/SLL (chronics,small lymphocytic leukemia)
-myelodysplastic synd (MDS)
t(1:14)
marginal zone lymphoma can acquire this
5q-, 7q- abrr
an AML therapy related
Normal cytogenics, mutated NPM
an AML w genetic abbr
MYD88
lymphoplasmacytic lymphoma
GoF NOTCH1*
- T-ALL (tcell acute lymphobalstic leukemia)*
- C/SLL (chronics,small lymphocytic leukemia)
TP53 LOF mutations (poor outcome)
Myelodysplastic syndromes (MDS)
t(8:14)
(both) burkitt lymphoma
Deletions: 13q14.3(microRNAs 15a & 16-1), 11q, 17p
C/SLL (chronics,small lymphocytic leukemia)
t(8:21) RUNX1/ETO
- an AML w genetic abbr
- AML, NOS, M2
3q27 mutation (translocation or acquired) involving BCL6.
DLBCL (diffuse large B cell lymphoma)
Chimeric BCR-ABL gene driven by t(9:22), Philadelphia chromosome
Chronic Myelogenous Leukemia (CML)
balances translocation in t(12:21) ETV6 and RUNX1*
B-ALL (bcell acute lymphobalstic leukemia)
t(2:8) or t(8:22) for the light chains.
Burkitt lymphoma
LoF in E2A
B-ALL (bcell acute lymphobalstic leukemia)
t(15:17) RARA/PML
an AML w genetic abbr
Monosomies 5, 7
Myelodysplastic syndromes (MDS)
calreticulin
-Essential Thrombocytosis (ET)
LoF IkB or A20
Hodgkins lymphoma (promote NfKb survival)
Induced by AID in germinal center B cells
Burkitt lymphoma
activating JAK2
- Essential Thrombocytosis (ET)
- Primary Myelofibrosis (PM)
somatic hypermutation
-marginal zone lymphoma
Hodgkin Lymphoma: Lymphocyte Predominance Subtype
Valine → phenylalanine at residue 617.
Polycythemia Vera (PCV or PV)
IgH gene rearramgements
- DLBCL (diffuse large B cell lymphoma) (primary effusion type)
- multiple myeloma (plasma cell myeloma)
Deletion of 5q, 7q, 20q
Myelodysplastic syndromes (MDS)
Inv(16) CBFB disrupted
- an AML w genetic abbr
- AML, NOS, M4 (AMML)
22q11
DiGeorge synd: thymic hypoplasia/aplasia
MLL2 mutation
follicular lymphoma
BRAF
- hairy cell leukemia
- Langerhans Cell Histiocytosis
