Genes and Cell markers Flashcards
T-ALL gene mutations
GOF of NOTCH1 (70%)
B-ALL gene mutations?
Translocation?
LOF of PAX5, E2A, and EBV
-t(12;21) . . ETV6 and RUNX1
CD21
EBV receptor; mature B cells and follicular dendritic cells
CD23
Activated mature B cells
CD79a
marrow Pre B cells and mature B cells
CD11c
Granulocytes, monocytes, and macrophages; also expressed by hairy cell leukemias
CD13
immature and mature monocytes and granulocytes
CD14
monocytes
CD15
Granulocytes; Reed-Sternburgs cells
CD33
Myeloid progenitors and monocytes
CD64
Mature myeloid cells
CD16
NK cells and granulocytes
CD56
NK cells and a subset of T cells
CD34
Pluripotent HSC and progenitor cells of many lineages
CD30
Activated B cells, T cells, and monocytes; Reed Sternberg cells
CD45
ALL LEUKOCYTES; also known as leukocyte common antigen (LCA)
t(15;17)
Acute promyelocytic leukemia
Distinctive immunophenotype of CLL/SLL
- Pan B cell markers CD19, CD20, CD23, and CD5
- also low level expression of surgace Ig (usually IgM or IgM and IgD)
Gene overexpression and translocation for follicular lymphoma
- BCL2
- t(14;18)
Immunophenotype of follicular lymphoma
- CD19, CD20, CD10, Surface Ig, and BCL6
- unlike CLL/SLL and mantle cell lymphoma, CD5 is NOT expressed
- BCL2 in more than 90%
- normal follicular center B cells are BCL2-NEGATIVE
Dysregulation in DLBCL
- often BCL6
- small % have t(14;18) @ BCL2 . . . these are probably follicular lymphomas that transformed and are now more aggressive
Translocation for Burkitt lymphoma
c-MYC oncogene on chromosome 8 . . .ALL HAVE THIS
-virtually always fail to express the anti-apoptotic protein BCL2
immunophenotype of Burkitt lymphoma
-surface IgM, CD19, CD20, CD10, BCL6
Immunophenotype for MM
- CD138 (syndecan-1)
- CD56
mutations for lymphoplasmacytic lymphoma
MYD88
translocation for Mantle Cell lymphoma
- (11;14) translocation
- this involves IgH locus on chomosome 14 and the cyclin D1 locus on chromosome 11
Tranlocations acquired in Marginal Zone lymphoma?
-What do they upregulate
- (11;18), (14;18), or (1;14)
- BCL10 or MALT1
Mutation and surface markers for Hairy cell leukemia?
- BRAF
- surface IgG
- CD11c, CD25, CD103
Immunophenotype Peripheral T cell lymphoma, unspecified
-CD2, 3, 5, and some CD4 or 8
what 2 neoplasms are CD30+
Anaplastic Large Cell Lymphoma (ALK pos) and Hodgkins lymphoma
Gene mutation associated with Large Granular lymhocytic leukemia
STAT3
Cell markers for Langerhans Cell histiocytosis
- S-100+
- CD1a
- HLA-DR