Sarcoma Case Studies and Diagnoses Overview
Explore a detailed overview of sarcoma cases, including frozen core collections, genetic mutations, altered diagnoses, and histology analysis. Discover insights into new diagnoses, genetic confirmations, and the management of sarcoma patients for better treatment outcomes.
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Presentation Transcript
SWAG Sarcoma CAG 17th Oct, 2023
3 years of frozen core collection 25thAug 2020 now All new sarcoma diagnoses discussed at MDT taken from CNS triage list / MDT outcomes 594 cases in this period (200 / year) 261 HG (44%) 564 new diagnosis 30 recurrence 209 LG (56%)
596 new sarcoma cases 83 frozen cores taken 6 not appropriate 63 frozen cores taken 64 cores in eligible pts 17 not suitable for testing: 14 insufficient DNA 2 test cases 1 left overnight 4 died 1 left area 43 consented 34 results returned 4 patients awaiting consent
8 cases provided additional information (24%) 3 germline mutations (1xBRCA1 already known, MSH6 and BRIP1) 3 potentially actionable mutations (MSH6 gives access to immunotherapy, 2 x MDM2 amplification) 13 genetic confirmation of diagnosis Myxoid LS EMC Synovial ASPS DD-LPS Ewing Malignant SFT Angiosarcoma 4 3 1 1 1 1 1 1 FUS-DDIT3 NR4A3 fusion SS18-SSX2 fusion ASPSCR1-TPE fusion MDM2 and CDK4 amplification EWSR1:FLI1 fusion NAB2:STAT6 fusion MYC amplification
3 altered diagnoses: 1 - genetic signature favoured recurrent ovarian cancer 1 AHRR:NCOA2 translocation changed diagnosis from angiomatoid fibrous histiocytoma to angiofibroma of soft tissue (Mx not altered) 1 C11orf95:MKL2 fusion May change diagnosis to chondroid lipoma (HG sarcoma to benign, awaiting confirmation) 13 non-actionable mutations: TP53, RB1, ATRX, CDKN2A/B, MDM1, NF1, PTEN Time to receive result has improved in the last year Currently 18 weeks Prioritised on request GTAB discussions held on ad hoc basis
Indolent / LG histology Not all eligible patients had frozen core Biopsy / surgery at centres outside Bristol Biopsy / surgery at BRI non-extremity RPS no clear reason
Could we include RPS patients? Arrange transfer of fresh tissue for patients having surgery / biopsy elsewhere Reliably identifying extremity patients who need frozen core taken on resection specimen Feeding back results to patients
