Hemepath Flashcards
Name myeloproliferative neoplasms (MPN)
CML
PV
PMF
ET
Mastocytosis
Molecular abnormalities in CML
BCR-ABL t(9;22)
Molecular abnormalities in PV
> 95% JAK V617F and exon 12 mutations
Molecular abnormalities in PMF
50-60% JAK2
24% CALR
8% MPL
Features of CML
Peripheral leukocytosis
Neutrophilic and myelocytic peaks
How is CML monitored?
Serial qRT-PCR for BCR-ABL
International Scale reporting
Major response: 3-log reduction
Complete response: 4.5-log reduction
Diagnostic features of PMF
Splenomegaly
Atypical megas
Varying degrees of reticulin fibrosis and/or collagen fibrosis
Elevated LDH, leuykoerythroblastosis
PMF mutations
Diagnostic features of ET
More than 50% asymptomatic at presentation with marked thrombocytosis
Rate of 1-2% thrombotic events per year
How is MDS subtyped?
MDS-EB1: low but present blast count
MDS-EB2: higher blast count, any case with Auer rods (33%
progress to AML)
MDS with isolated del(5q): has targeted therapy
MDS-MLD-RS: 2-3 lineages with dysplasia and >15% ring sideroblasts
MDS-MLD: 2-3 lineages with dysplasia
MDS-SLD-RS
MDS-SLD
MDWS-U
How is AML subtyped?
AML with recurrent genetic abnormalities
AML with myelodysplasia-related changes
Therapy-related myeloid neoplasms
AML, NOS
AML with recurrent genetic abnormalities subtypes with prognosis
t(8;21) RUNX1-RUNX1T1 - good
t(15;17) PML-RARA - good
inv(16) CBFB-MYH11 - good
inv(3) or t (3;3) GATA2 or MECOM - v bad
Cytogenetics of follicular lymphoma
t(14;18) IGH-BCL2
17p - associated with transformation to DLBCL
Additional BCL6 and MYC results in poor prognosis
Cytogenetics of Mantle cell lymphoma
t(11;14) CCND1-IGH
Tetraploidy in pleomorphic and blastoid variants
ATM mutations
Cytogenetics of MALT lymphoma
t(11;18) API2-MALT1: associated with resistance to H. pylori eradication therapy but not progression to DLBCL
t(14;18) AGH-MALT1
Cytogenetics of Splenic marginal zone lymphoma
7q del CDK6 gene dysregulation
Cytogenetics of Burkitt lymphoma
t(8;14) MYC-IGH
t(8;22) MYC-IGL
17p mutations TP53
11q alteration
Cytogenetics of DLBCL
t(14;18) IGH-BCL2 (20-30%)
Rearrangement of BCL6
Additional c-MYC results in poor prognosis
Cytogenetics of primary mediastinal large B cell lymphoma
Hyperdiploidy
BCL6 mutations
Cytogenetics of CLL/SLL
TP53 and IGHV somatic hypermutation
Molecular for LPL/WM
MYD88 mutation
Cytogenetics of B-ALL in adults
t(9;22) BCR-ABL
Poor prognosis,