sarcoma Flashcards
Ewings genetics
t(11;22)(q24;q12). for EWSR-FL1. second most common
is t(21;22)(q22;q12), which results in the EWSR1-ERG gene fusio
genetics: desmopastic small round blue cell
(11;22)(p13;q12), which fuses the EWSR1-WT1 genes, is characteristic and diagnostic of desmoplastic small round cell tumors.
Rare type of osteosarcoma: Low grade central. Where is it, how is it trusted?
distal femur, surgery ONLY and get prognosis
rare type of osteosarcoma: Parosteal. Who gets it, treatment, outcome
young adults, surgery alone, great
Rare type of osteosarcoma: periostea. Grade, location, treatment
intermediate, proximal tibia, surgery +/- chemo
rare type of osteosarcoma: high grade surface. how to treat
same as regular OS
Where in the bone does OS usually come up
metaphysis of long bone
most common site of OS presentation
around the knee
Diagnosis: XR with Codman triangle and suburst pattern
Osteosarcoma
most important prognosis in osteosaromA
Localized vs metastatic
goal tumor necrosis for osteosarcoma
more than 90% after neoadjuvant chemo
how much of Ewings is bone tumor vs soft tissue
80% bone, 20% oft tissue
where in the bones does Ewings arise and most common locations in body
diaphysis in long or flat bones. Most common sites: pelvis and femur
permeative moth eaten and onion skinning on XR_ diagnosis
ewings
staging ewings needs
CT chest, PET, and bone marrow biopsy/aspirate
most common location for rhabdomyosarcoma
head ad neck- orbit, parameningeal, usually zERMSZ
who needs loco regional lymph node exploration in rhabdo
more than 20% risk if in extremity and for paratesticular (if >10 years old) .Otherwise- anywhere with an enlarged or PET avid LN
only subgroup of RMS patients that do not need radiation
fusion negative embryonal RMS with complete resection
2 types of NRSTS that have the highest risk of lymph node metastasis
epithelioid and clear cell
most common NRSTS
synovial sarcoma
what its he most chemo sensitive NRSTS and what is the bets chemo
synovial sarcoma. Doxo-ifos
Key association for MPNST
NF1 Know that this can often come from malignant transformation of plexiform neurofibroma
Key presentation- superficial nodules in upper extremity and hand type of NRSTS
epithelioid sarcoma
cancer syndrome to associate with Desmoid fibromatosis
FAP (APC mutation)
key fusions in RMS
PAX3-FOX01 (T(2;13) OR PAX7-FOXO1 t(1;13)
which type of RMS is worse
alveolar/fusion +
Genetic RF for RMS
Li fraumeni mostly. Also NF1, dicer1 , BWS
4 favorable sites for RMS
orbit, head and neck (not parameningeal), GU (not bladder or prostate, biliary track)
RMS chemo
VAC
t(x;17) SPL-TFE3
alveolar soft part sarcoma
t(12;22) EWS-ATF1
clear cel sarcoma
t(17;22) COL1A1-PDGFRb
dermatofibrosarcoma protuberans
t(11;22) EWS-WT1
desmopalstic small round cell
CTNNB1 or APC mutation
desmoid tumor
INI1/SMARCB1 loss thats not rhabdoid
epitheioid sarcoma
t(12;15) ETV6-NTRK
infantile fibrosarcoma
t(x;18) SSX-SS18
synovial sarcoma
Chemo for chemo-sensitive NRSTS
doxo/ifos
Presentation: synovial sarcoma
extremity tumor in young adult, median age 12
what is: indolent disease usually in lowe3r extremities that can metastasize
alveolar soft part sarcoma
treamtnt- alveolar soft part sarcoma
does not respond to regular chemo so surgery and then immunotherapy
highest rate of LN metastasis of all pediatric NRSTS
epitheooid sarcoma
rapidly growing deep seated tumor in an infant (median age 1-3 months). What is it and how do you treat
Infantile fibrosarcoma. High response to NTREK inhibitors like larotrectinib or entrectinib
common locations for inflammatory myofibroblastic tumor
lung, abdomen, GU track, RP
Treatment- RMS
upfront surgery< VAC chemo, RT in most
treatment OS
MAP chemotherapy, resect all disease
