Rhabdomyosarcoma Flashcards
Characteristic translocations and fusion proteins in alveolar RMS
T(2;13)-PAX3- FOXO1- bad outcome
T(1;13) PAX7-FOXO1- slightly better outcome but less common
Genetic syndromes associated with RMS
Li fraumeni
Rasopathies- Noonan, costello, NF1
Beck width Weismann
Prognostic factors in RMS
Site favourable or non favourable Metastatic disease Older age worse Histology alveolar worse Cytogenetics- FOXO1-PAX3
Favourable sites in RMS
Non bladder prostate GU
Non PM head and neck including orbit
Who needs RT and what doses in RMS
Group III- all require 54 GY max ( site tolerance dependent)..59.4 if > 5 cm
36 Gy if group II
Only group I FOXO1 fusion positive tumors get 36 Gy
In RMS when should LN sampling occur
Paratesticular > 10 cm
All extremity
Staging of RMS
Takes into account TNM
Size, site, lymph node, Mets
Stage II- localized in favourable site any size
Stage II- non favourable site localized, no LN involvement and <5 cm
Stage III- non favourable site, either > 5 cm or LN positive
Stage IV- metastatic
RmS grouping
Group 1- R0 resection
Group 2- R1 resection or positive nodes
Group 3- gross residual disease
Group 4- metastatic
Risk classification in RMS
Low risk- embryonal stage 1- group 1-3, stage 2- group 1-2
High risk- alveolar stage IV, embryonal stage IV > 10 yo
Intermediate- all others
Prognosis for low intermediate and high
High < 20%
Intermediate- 60-70%
Low- 80-90
Chemo for RMS
Low risk- VAC/VA for 8 cycles( 24 weeks) VA for 15 cycles ( 45 weeks)
Intermediate- VAC/VI for 45 weeks or VAC
And maintenance vinorelbine/cyclo
High- VAC typically
Mutations in fusion negative arMS
Infants- VGLL2 and NCOA2 good prognosis in spindle cell variant
P53 and MYOD1 poor prognosis
LOH 11p15.5
Activating mutations of ras pathway
