Cancer Cytogenetics

Cancer Cytogenetics
Solid Tumors
Solid Tumors
If chromo del likely del TS or miRNA that targets oncogene transcripts
Blood CA
Small Round Cell tumors
Lymphoma
Neuroblastoma
PNET/Ewing Sarcoma
Sarcoma = CA arising from Muscle,
bone, fat, fibrous tissue, PNS, &
Vessels
85% of Ewing tunors w/
t(11;22)> oncogenic
chimera...
Rhabdomyosarcoma (RMS)
Mesechymal tumor, varying
degrees of striated muscle
differentiation
ERMS = Embryonal
hyperdiploid
ARMS= Alveolar
Worse Px then ERMS
t(2;13) Pax3 in translocation
t(1;13) Pax7 in translocation
Synovial Sarcoma
t(X;18)& SSX1, SS18, SSX2, SSX4
Desmoplastic Small Round Cell Tumor
t(11;22)
Clear Cell Sarcoma
t(12;22)
Liposarcoma
Mixoid Round Cell Liposarcoma
t(12;16)
Low Grade Fibromixoid Sarcoma
t(7;16)
ExtraSkeletal Myxoid Chondrosarcoma
t(9;22)NR4A3 / EWSR1
Lymphoma. 90% are B cell
Nonhodgkins Lymphoma
Mature Peripheral B cell CA
Follicular Lymphoma
poor Px 53 1617+ 1218.
+X 1418 or 8 14 > BCL2
> 6 Chromo breaks +
Complex Karyotype
Burkitts Lymphoma
t(8;14), t(2;8), t(8;22)
chromo 2 has Myc
chemoRx > 90% cure rate
MALT
H.Pylori Assoc MALT; Rx = Abx
unless t(11;18).
Alot of t(14_) as well i.e., t(14;18)
ALK+ Lg B cell Lymphoma
t(2;17) & t(2;5)
Small Lymphocytic Lymphoma,
aka CLL
Highest genetic predisposition
risk. FDR of CLL pt has 27 fold
inc risk
Down Syndrome related MDS ~ GATA1 (X
chromo) Px & GATA1 varies as a fx of child
age, Trisomy 8
Mantle Cell
trisomy 12 = poor Px as well
as .. rare t(8;14), p53, 3q+,
9q, cyclin D1 genes
MM
risk of MM is 3.7 fold higher w/ FDR
50% have 13q del & other remaining
cytogenetic abnlties involve Translocations of
chromo 14. > 90% older then 50yo, No
cure, 34 yr survival
MGUS
4050% oinvolve 13q del, 40%
hyperdiploidy, the rest scattered & involve
chromo 14
Precursor B cell
BALL
HodgkinsLymphoma= Reed
Sternberg Cells
- Leukemia -
(11q23
rearrangements
are prominent
- MLL gene)
- Acute
- ALL
- Poor Px: t(9;22), 11q23, Hyperdiploidy. Good
Px: 12;21, & hyperdiploidy. t(1;19) is another
subtype
- AML
- Good Px w/ t(15;17), inv 16, t(8;21),
- Poor Px = Inv 3, t(6;9), t(9;11)
- 5 q abnlty
- MDS
- 50% w/ cytogeneitc chnages
- BM blasts @ < 20%, but
somewhat hypercellular
- Good Px = nl karyotype, Y-, 5q
del, 20q del. Don't always have
5q-
- Childhood MDS-Monosomy 7
worse Px then +8 or nl
karyotype
- 5q Syndrome
- del of 5q as only abnlty
- Females have good Px, hypo
or nl marrow cellularity
- blasts <5%
- Chronic
- CLL
- -6, -11, -13 (inc freq), -17
(p53 on this chromo - worst
Px)
- CML
- Philidelphia Chromosome
t(9;22)- ABL/BCR
- Phili is also seen in 20% of adult ALL & some
AML , childhood ALL, B cell lymphoblastic
Leukemia, Extra skeletal myxoid,
Chondrosarcoma
- Gleevec
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