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Bone and soft tissue tumors

Bone and soft tissue tumors. Imad Fadl-Elmula Al Neelain University. THE CLINICAL SCENARIO. May occur at all ages Most common in the extremities Benign>>malignant Poor prognosis for malignant tumours (sarcomas). From Rydholm and Pettersson. Treatment choices:

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Bone and soft tissue tumors

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  1. Bone and soft tissue tumors Imad Fadl-Elmula Al Neelain University

  2. THE CLINICAL SCENARIO May occur at all ages Most common in the extremities Benign>>malignant Poor prognosis for malignant tumours (sarcomas) From Rydholm and Pettersson Treatment choices: Radical or conservative surgery? Chemotherapy? Radiotherapy?

  3. Disease Mechanisms? Environmental:1. Radiation. 2. Viruses. Inherited factors:Li-Fraumeni syndrome. Von Recklinghausen disease. Acquired genetic changes: DNA 3D structure

  4. Bone and soft tissue lesions – somatic mutations Simple changes Rings and markers Complex changes Benign Borderline malignant Malignant

  5. Simple karyotype - benign HMGA2 3’ 5’ translocation mRNA

  6. Simple karyotype - benign Lipoma Pleomorphic adenoma Pulmonary hamartoma Uterine leiomyoma HMGA2 Lipoblastoma Pleomorphic adenoma PLAG1

  7. Rings and markers –borderline malignant

  8. Rings and markers –borderline malignant Dermatofibrosarcoma protuberans/ giant cell fibroblastoma t(17;22)(q22;q13),+r(17;22) COL1A1/PDGFB Fibromatosis/desmoid del(5)(q),+8,+20 Loss of APC Inflammatory myofibroblastic tumour der(2)(p23) ALK/TPM3, ALK/TPM4 Lipomatous tumour, atypical +r(12),+giant marker,tas Amplification of 12q sequences Malignant fibrous histiocytoma, low-grade +r(12),+giant marker,tas Amplification of 12q sequences Osteosarcoma, parosteal +r(12),+giant marker Amplification of chromosome 12 sequences

  9. CDK4 MDM2

  10. Chromosome 9 Chromosome 12 MDM2

  11. Simple karyotype - malignant Myxoid liposarcoma Chromosome 12 t(12;16) FUS/CHOP Chromosome 16 Abnormal transcription factor activity “Molecular main switch”

  12. Ewing t(21;22)EWS/ERG

  13. Rhabdomyosarcoma

  14. Desmoplastic small round cell

  15. Synovial sarcoma t(X;18)(p11;q11),+7,+8,+12 SSX1/SYT or SSX2/SYT Simple karyotype - malignant translocations and fusions Alveolar soft part sarcoma der(17)(q25) Angiomatoid malignant fibrous histiocytoma t(12;16)(q13;p11) FUS/ATF1 Chondrosarcoma, extraskeletal myxoid t(9;22)(q22;q12), t(9;17)(q22;q11) EWS/CHN, RBP56/CHN Clear cell sarcoma t(12;22)(q13;q12),+8 EWS/ATF1 Desmoplastic small round cell tumour t(11;22)(p13;q12) EWS/WT1 Fibrosarcoma, juvenile t(12;15)(p13;q25-26),+8,+11,+17,+20 ETV6/NTRK3 Liposarcoma, myxoid/round cell t(12;16)(q13;p11), t(12;22)(q13;q12), i(7)(q10),+8 FUS/CHOP, EWS/CHOP t(11;22)(q24;q12), t(7;22)(p22;q12), t(21;22)(q22;q12),+8,+12,+1q,-16q EWS/FLI1, EWS/ETV1 EWS/ERG Peripheral primitive neuro- ectodermal/ Ewing family tumour Rhabdomyosarcoma, alveolar t(2;13)(q35;q14), t(1;13)(p36;q14), +2,+20 PAX3/FKHR, PAX7/FKHR

  16. Complex –highly malignant Osteosarcoma, 19 year old male Molecular pathogenesis poorly known

  17. Complex –highly malignant Intratumour heterogeneity Unbalanced cell division Micro-evolution Resistence to treatment

  18. Loss of NF1 Loss of RB1, loss of TP53 Complex –highly malignant Chondrosarcoma, classical der(12)(q13-15),+5,+7,-10,-13,+19,+20 Leiomyosarcoma complex Malignant peripheral nerve sheath tumour /neurofibrosarcoma complex,der(7)(p22),der(17)(q11-21) Liposarcoma, pleomorphic complex Malignant fibrous histiocytoma, high grade complex,der(1)(q11-12),der(19)(p13) Osteosarcoma, classical complex,-3,-10,-13,der(17)(p) Rhabdomyosarcoma, embryonal +2,+8,+20

  19. Orthopaedic surgeon radiologist oncologist cytopathologist Sarcoma group Members cytogeneticist

  20. Sarcoma group Work-up Clinical appearance CT/MRI FNAC or incisional biopsy Cytogenetics Molecular genetics Hematox/Eo ICH

  21. Histopathology: Open or needle biopsy Clinical features Radiology CT/MRI Cytogenetics Prognosis Physical fitness Age Treatment -radiotherapy -chemotherapy -SURGERY Diagnosis

  22. Audit Nursing And Support staff Radiologist psychiatrist Cytopathologist Oncologist BoneTumours Diagnosis Treatment Surgeon Histopathologist Molecular Pathologist Geneticist

  23. Thank you

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