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

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Presentation on theme: "Bone and soft tissue tumors Imad Fadl-Elmula Al Neelain University."— Presentation transcript:

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

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

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

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

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

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

7 Rings and markers – borderline malignant

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


10 Chromosome 9 Chromosome 12 MDM2

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

12 Ewing t(21;22)EWS/ERG


14 Rhabdomyosarcoma

15 Desmoplastic small round cell

16 Simple karyotype - malignant translocations and fusions Alveolar soft part sarcomader(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 sarcomat(12;22)(q13;q12),+8EWS/ATF1 Desmoplastic small round cell tumour t(11;22)(p13;q12)EWS/WT1 Fibrosarcoma, juvenilet(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 Peripheral primitive neuro- ectodermal/ Ewing family tumour t(11;22)(q24;q12), t(7;22)(p22;q12), t(21;22)(q22;q12),+8,+12,+1 q,-16q EWS/FLI1, EWS/ETV1 EWS/ERG Rhabdomyosarcoma, alveolar t(2;13)(q35;q14), t(1;13)(p36;q14), +2,+20 PAX3/FKHR, PAX7/FKHR Synovial sarcomat(X;18)(p11;q11),+7,+8,+12SSX1/SYT or SSX2/SYT

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

18 Unbalanced cell division Intratumour heterogeneity Micro-evolution Resistence to treatment

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



22 Sarcoma group Members cytopathologist radiologistOrthopaedic surgeon oncologist cytogeneticist

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

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

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


27 MalignancyChromosomal TranslocationsGene Involved Acute myelogenous leukemiat(8;21) (q22;q22)AML-1/ETO inv (16) (p13;q22)CBFβ/MYH11 t(15;17) (q22;q21)PML/RARα t(9;11) (p21-22;q23)MLL/AF9 Acute lymphoblastic leukemiat(12;21) (p12;q22)TEL/AML1 t(9;22) (q34;q11)BCR/ABL t(1;19) (q23;p13)E2A/PBX1 t(4;11) (q21;q23)MLL/AF4 Chronic myelogenous leukemiat(9;22) (q34;q11)BCR/ABL Follicular lymphomat(14;18) (q32;q21)IGH/BCL2 Chondrosarcoma, myxoidt(9;22) (q22;q12)TEC/EWS Clear cell sarcoma (MMSP a )t(12;22) (q13;q12)ATF1/EWS Ewing's sarcoma/PNET b t(11;22) (q24;q12)FLI1/EWS t(21;22) (q22;q12)ERG/EWS Liposarcoma, myxoidt(12;16) (q13;p11)CHOP/TLS Rhabdomyosarcoma, alveolart(2;13) (q35-37;q14)PAX3/FKHR t(1;13) (p36;q14)PAX7/FKHR Synovial sarcomat(X;18) (p11,q11)SSX1/SYT SSX2/SYT


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