Translocations Flashcards
AML M2 (myeloblastic with differentiation)
t(8;21) - good prognosis
AML1 gene on ch 21
ETO gene on 8q22
AML M3 (promyelocytic)
t(15;17)
PML gene on 15
RARA-alpha gene on 17
ML M4 (myelomonocytic with eosinophilia)
inv (16)(p13q22)
MYH11 and CBFb genes
AML M5 (monoblastic)
t(9;11)
Abl1 gene on 9
CML
t(9;22)
Abl1 gene on 9 fuses to BCR (“breakpoint cluster region”) on ch 22
reciprocal translocation
BCR-abl fusion protein - tyrosine kinase
ALL
t(4;11)
AF4 on 4
MLL on 11q23
Burkitt’s
t(8;14)
t(2;8)
t(8;22)
C-MYC on 8q24
IgH on 14q32
kappa on 2
lambda on 22
** caveat: some cases of Burkitt lack these translocations and some cases of DLBCL have a myc translocation
follicular lymphoma
t(14;18)
IgH on 14q32
BCL-2 on 18q21
B-lymphoblastic lymphoma
Good prognosis
- t(12;21)(p13;q22); TEL/AML1
- hyperdiploid > 50
- age 4-10
Bad prognosis
- t(9;22) (q34;q11.2); BCR/ABL
- 11q23; MLL
- t(1;19) (q23;p13.3); PBX/E2A
Marginal zone lymphoma
t(11;18)
API on 11
MLT-1 on 18
bladder cancer
aneuploidy of chromosomes 3, 7, 17 and loss of 9p21
Ewings sarcoma
- t(11;22); EWS/FLI-1
- t(21;22); EWS/ERG
- many others; EWS/other
- EWSR* gene on 22q12
- FLI-1* gene on ch 11
- ERG* gene on ch 21
DSRCT
t(11;22); EWS/WT-1
WT-1 gene (Wilms tumor protein) on ch11
trilineage IHC markers: CK/EMA, desmin/vimentin, NSE
Clear cell sarcoma
t(12;22); EWS/ATF-1, EWS/TEC
Myxoid/round cell liposarcoma
t(12;16); FUS/CHOP
- FUS* on 16p11
- CHOP (DDIT3)* on 12q13
Myxoid/round cell liposarcoma is the second most common type of liposarcoma. Predictors of an unfavorable outcome include greater than 5% round cell component (i.e. high grade), necrosis and p53 overexpression. Mitotic rate, fusion transcript and mature adipocytic differentiation are not as good at predicting an unfavorable outcome.
alveolar soft part sarcoma
t(X;17) unbalanced translocation
ASPL/TFE3
sensitive and specific
Synovial sarcoma
t(X;18); SYT/SSX1, SYT;SSX2
Alveolar Rhabdomyosarcoma
t(1;13); PAX7/FKRH
t(2;13); PAX3/FKRH
FKRH = FOXO1 = Forkhead box proteoin O1 = Forkhead in rhabdomyosarcoma; located on chromosome 13
DFSP
t(17;22); CALIA1/PDGF-BETA
Low grade fibromyxoid sarcoma
t(7;16); FUS/CREB
FUS = Fused in Sarcoma gene; on chromosome 16
**MUC4 is a new sensitive and specific marker for LGFMS vs other similar appearing soft tissue tumors!
t(9;22)(q34;q11)
CML or ALL