Rhabdomyosarcomas: predisposition syndromes (7)
- Li-Fraumeni
- Gorlin
- Beckwith-Wiedemann
- Costello
- Noonan
- NF1
- DICER-1
Immunochemistry findings in soft tissue sarcomas
RMS: Myogenin, muscle specific actin, MyoD, desmin
Synovial: cytokeratin, EMA, bcl2
Associated translocations:
a) RMS
b) Synovial sarcoma
c) Undifferenciated sarcoma
d) Infantile fibrosarcoma
a) PAX(3 or 7)/FOXO1
b) t(X;18) – SYT-SSX fusion
c) t(4;19) – CIC-DUX4 fusion occasionally
d) t(12;15)
Which soft tissue sarcomas are responsive to chemotherapy? (3)
Synovial sarcoma
Undifferenciated sarcoma
Infantile fibrosarcoma
Which chemotherapy agents are usually used in RMSTS?
Ifosphamide
Doxorubicin
Which soft tissue sarcomas are unresponsive to chemotherapy? (4)
MPNST
Leiomyosarcoma
Alveolar soft part sarcoma
Epithelial sarcoma
RMS: define risk stratification
LR: - ERMS, Stage 1-2, Group I-II - ERMS, Stage 1, Group III (orbit) IR: all others HR: - EMRS, Stage 4, age > 10 years - ARMS, Stage 4
RMS, prognosis (EFS at 5 years)
LR: 85%
IR: 50-75%
HR: 20%
Role or radiation in RMS (initial diagnosis)
Form of local control; for all patients except Group I (localized, fully resected) ERMS
Dose: 36-50.4Gy
Timing: starts between week 3-15 (unless urgently at diagnosis)
Name 8 prognostic factors in RMS
- Age
- Histological subtypes
- Translocation status
- Metastatic disease at diagnosis
- Lymph node spread
- Resectability
- Site of tumor
- Size of tumor
Inherited syndromes associated with OS (5)
Li-Fraumeni Hereditary retinoblastoma Rothmund-Thrompson Bloom Werner
Acquired RF for osteosarcomas (3)
Prior radiation therapy
Prior treatment with alkylating agents
Exposure to radium or beryllium (very rare)
Paget disease, in adults after 40 y.o.
Osteosarcoma, staging
- Plain X-R of affected limb
- MRI of affecting limb
- Bone scan
- Chest CT-scan
Osteosarcoma: list 5 pre-treatment prognostic factors
- Site of primary tumor
- Size of primary tumor
- Presence of metastase
- Site of metastases (lung only vs other, uni vs bilateral)
- Number of mets (better when less than 3)
Osteosarcoma: list 2 post-treatment prognostic factors
- Degree of tumor necrosis (better if >90%) – both for primary site and mets
- Resectability
How is defined metastatic osteosarcoma?
Most sensitive modality to detect metastasis?
1) 3 pulmonary lesions of at least 5 mm or 1 pulmonary lesion of ast least 1 cm
2) Chest CT-scan
Prognosis in osteosarcoma
Localized: 75%
Metastatic: 40-50%
Bone lytic lesion: name 3 DDX
1) LCH
2) Aneurysmal bone cyst
3) Giant cell tumor
Osteosarcoma can have a lytic component, usually has some sclerotic component as well
Radiologic aspect of OS on X-R
- Epiphyseal lesion
- Mixed sclerotic and lytic pattern (although 1 component is predominant)
- Periosteonal new bone formation: sunburst pattern, Codman triangle
- Areas of calcification in bone and soft tissue component
3 most common sites of metastasis for Ewing sarcoma
Lung
Bone
Bone marrow
Describe management of relapsed Ewing
- MRI, PET-SCAN
- No standard of care for treatment
1. Cyclo/topotecan
2. Irinotecan/temozolomide
Most common site of recurrence in osteosarcoma?
Lungs
