Somatic Onco-Solid Flashcards
(32 cards)
Small Cell Lung
3p del
Non-small cell lung
ALK rearrang. (2p23): inv(2) most common-common in younger patients, good prog. treat with crizotinib
EGFR seq/amp (7p12)-treat amp w/ erlotinib or gefitinib >15 copies
KRAS seq (more common than alk)-sotorasib, adagrasib (G12C specific)
ROS1 rearrang. (6q)-treatable, crizotinib
MET amp (7q31) or ex14 skipping-bad prognosis, resistance to egfr inhibs; treat w/ crizotinib
EGFR>KRAS>ALK>ROS>RET
Bladder cancer
Del 9- biallelic-p16 on 9; used for diagnosis and monitoring
gains of 3,7, 17
Breast
HER2 (ERBB2) amp-bad prog. but treatable w/ herceptin
Neuroblastoma
MYCN amp (2p24) (20-30%)-bad prog.. Need >10 copies; double minutes,cyto is for prognosis, not diagnosis
hyperdiploidy-good
17q gain (50%) iso-bad; usually iso17q
1p36 del-bad (usually seen with MYCN amp)
ALK amp (2p23) (2-3%)0-close to MYCN, usually occurs together
11q del-bad
ALK seq (8-10%)-can be familial
Gliomas
IDH seq
glioblastoma, astrocytoma; but can be WT for these too; mut is better survival
oligodendroglioma
1p & 19q del
only oligodendroglioma, also seen w/ idh mut.,
Synovial sarcoma
SYT rearrangement (t(X;18)(p11.2;q11.2) >95%
SSX1::SYT )2/3) or SSX2::SYT (1/3); aggressive
Ewings Sarcoma
EWSR1 rearrang. (22q12) (t(11;22)(q24;q12) FLI1::EWSR1 (85%)
FlI1- best prog.
Primitive neuroectodermal tumor
EWSR1 rearrang.
very aggressive
Desmoplastic small round cell tumor
WT1::EWSR1 t(11;22)(p13;q12)
bad prog. mostly in kids
Atypical liposarcoma
MDM2 (12q15) amp- giant rings
good prog; amp can be giant ring or linear
Dedifferentiated LS
MDM2 (12q15) amp- giant rings
poor prognosis, progress from atypical ls
Myxoid
DDIT3 (CHOP)::FUS t(12;16)(q13;p11)-mostly kids
DDIT3 (CHOP)::EWSR1 t(12;22)(q12;q12)
Lipoma (benign)
HMGA1(6p21) rearrang
HMGA2 (12q14) rearrang.
Lipoblastoma
PLAG1 (8q11) rearrang
benign, but can locally recur
Embryonal rhabdomyosarcoma
Complex (gains of 2,8, 13; rearrang of 1p 12q13); hyperdiploidy
kids <5; hyperdiploidy a/w better prog.
Alveolar rhabdomyosarcoma
FOXO1 rearrang. PAX3::FOXO1 (t(2;13)(q35;q14)- 90%-teens, young adults, in extremities, worse prognosis
t(1;13)(p36;q14) PAX7::FOXO1
FOXO1 amp
Renal Clear cell carcinoma
3p del or LOH (VHL)- 90%
Renal Papillary
Gains of 7 (MET),17
MET amp also seen in lung cancer- bad
chromophobe RCC
BHD gene;
hypodiploidy (think afraid of chromosomes)
renal oncocytoma (benign)
losses of 1,14,Y; 11q13 rearrang
Dermatofibrosarcoma protuberans
COL1A1::PDGFB t(17;22)(q21;q13)
usually in supernumerary ring
congenital fibrosarcoma
ETV6::NTRK3 t(12;15)(p13;q26)
easy to miss with chr, ba FISH for ETV6; good prog.
