Solid Tumors Flashcards
t(11;22)
EWSR1-FLI1
t(21;22)
EWSR1-ERG
t(4;19) or t(10;19)
CIC-DUX4
inv(X)(p11)
BCOR-CCNB3
t(11;22)
EWSR1-WT1
Rothmund-Thomson syndrome gene
RECQL4
OS locations
distal femur, prox tibia, prox humerus, pelvic
EWS locations
femur, ileum, tib/fib and then chest wall/rib
congenital fibrosarcoma fusion
ETV6-NTRK3 = t(12;15)
desmoplastic round cell tumor fusion
EWSR1-WT1 = t(11;22)
rhabdoid tumor fusion
22q11.2 inactivation = INI1 loss (or SMARCB1)
malignant peripheral nerve sheath tumor association
NF1
lower risk RMS
orbit, GU non-bladder/non-prostate
higher risk RMS
extremity, some parameningeal
only STS not treated with surgery
desmoid tumor
only STS with autoSCT
DSRCT
only STS where surgery may not be needed
congenital fibrosarcoma (very chemo-sensitive)
WT1 location and association
ch11p13; WAGR (deletion), Denys-Drash (missense)
WT2 location and association
ch11p15; Beckwith-Wiedemann syndrome (hypermethylation)
anaplastic Wilms association
TP53 mutations (Li-Fraumeni)
RCC tx
surgery with LN dissection
tRCC special characteristic
TFE3 or TFEb nuclear expression
renal medullary carcinoma genetics
sickle cell trait; INI-1 loss
clear cell sarcoma of the kidney molecular finding
BCOR ITDs
malignant rhabdoid tumor loss
INI-1 (germline or somatic)
congenital mesoblastic nephroma cellular fusion/gene
t(12;15) = ETV6-NTRK3
cystic nephroma association
DICER mutations
Flank XRT for Wilms
1080 cGy
Lung XRT for Wilms
1200 cGy
Fibrolamellar HCC
DNAJB1-PRKACA fusion
Low AFP, lung Mets, < 1yo
Small cell undifferentiated hepatoblastoma (SMARCB1)
Low AFP, lung Mets, AYA
Fibrolamellar HCC (DNAJB1-PRKACA fusion)
