Rare Solid Cancers: An Introduction - Slide 11 - A.P. Dei Tos - The pathology of rare cancers and its pitfalls

The Pathology of Rare Cancers and its Pitfalls Angelo Paolo Dei Tos M.D. Departments of Pathology & Oncology Treviso, ITALY [email_address]

Rare Cancers ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Source of Errors in Pathology of Rare Cancers ,[object Object],[object Object],[object Object],[object Object]

Diagnostic Errors in Pathology of Sarcomas ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

What about Italy? ,[object Object],[object Object],[object Object]

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Results ,[object Object],[object Object],[object Object],[object Object]

Results Major discordancies ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Errors in Pathology of Rare Cancers ,[object Object],[object Object],[object Object],[object Object]

Source of Errors in Pathology of Sarcomas/Rare Cancers ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Diagnosis intrinsically difficult ,[object Object],[object Object],[object Object],[object Object]

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Diagnosis intrinsically difficult ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Multiplex RT-PCR 1: 4 FUS F primers and 2 R primers CREB3L2/L1 exon 5 2: 4 FUS F primers and 2 R primers CREB3L2/L1 exon 6 3: 1 beta actin F and 1 beta actin R primers FUS exon 6-CREB3L2 exon 5 FUS exon 6-CREB3L1 exon 6 Case A Case B Case B Case B Case A Case A NC NC NC 1 2 3

Benign lesions commonly mistaken for sarcomas ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Cellular Schwannoma ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Sarcomas commonly mistaken for benign STT lesions ,[object Object],[object Object],[object Object],[object Object],[object Object]

Epithelioid Sarcoma Franz Enzinger Cancer 1970; 26: 1029-1041

Complex integration of morphology, immunophenotype and genotype ,[object Object],[object Object]

Failure of ancillary techniques ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

EWSR1 in sarcomas ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Continuous evolution of tumor classification ,[object Object],[object Object]

Source of Errors ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

More subtle potential issues ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

How can we define expertise? ,[object Object]

How can we promote expertise? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Few Golden Rules ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Retroperitoneal WDLPS Normal tissue

Tumor type Cytogenetic changes Gene rearrang t Ewing’s sarcoma/PNET t(11;22)(q24;q12) FLI-1-EWS t(21;22)(q22;q12) ERG-EWS t(7;22)(p22;q12) ETV1-EWS t(17;22)(q12;q12) EIAF-EWS t(2;22)(q33;q12) FEV-EWS Alveolar rhabdomyosarcoma t(2;13)(q35;q14) PAX3-FKHR t(1;13)(p36;q14) PAX7-FKHR Myxoid/round cell liposarcoma t(12:16)(q13;q11) CHOP-TLS t(12;22)(q13;q11-12) CHOP-EWS DSRCT t(11;22)(p13;q12) WT1-EWS Synovial sarcoma t(X;18)(p11.2;q11.2) SSX1-SYT SSX2-SYT Clear cell sarcoma t(12;22)(q13;q12) ATF-1-EWS Extraskeletal myxoid CHS t(9;22)(q22;q12) TEC-EWS DFSP/GCF t(17;22)(q22;q13) PDGFB-COL1A1 Infantile fibrosarcoma t(12;15)(p13;q25) ETV6-NTRK3 Alveolar soft part sarcoma t(X;17)(p11;q25) ASPL-TFE3 Low grade fibromyxoid sarcoma t(7;16)(q33;p11) FUS-BBF2H7

Impact of Molecular Genetics/Pathology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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Few Golden Rules ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

                                           >100 oncology units

Solutions ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Rare Solid Cancers: An Introduction - Slide 11 - A.P. Dei Tos - The pathology of rare cancers and its pitfalls

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