The Pathology of Rare Cancer
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- Gwendolyn Elliott
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1 The Pathoogy of Rare Cancer Angeo Paoo Dei Tos M.D. Departments of Pathoogy & Oncoogy, Treviso, ITALY University of Padua Schoo of Medicine Rare adut soid cancers
2 Rare Cancers Incidence: 6 cases/ RareCare Sarcoma: 5 cases/ Singe histotype much rarer DSRCT: < 1 case/ Diagnosis and treatment = probematic wordwide Rare adut soid cancers
3 Case History 23 year od femae Mass in the abdomina wa Core biopsy Low-grade Sarcoma 2 nd opinion: myositis ossificans Rare adut soid cancers
4 Rare adut soid cancers
5 Case History 23 year od femae Mass in the abdomina wa Core biopsy Low grade Sarcoma 2nd opinion: myositis ossificans Frozen section: ow grade sarcoma Rare adut soid cancers
6 Rare adut soid cancers
7 Rare adut soid cancers
8 37 year mae Mass in the orbit Biopsy Leiomyosarcoma Case History Rare adut soid cancers
9 s r e c n Noduar Fasciitis d i o s t e r a R u d a a c
10 Case History 41 year od femae Mass in right thigh Core biopsy Reactive mesenchyma proiferation Recurrence at 6 months 2 nd opinion: CIC-rearranged high-grade round ce sarcoma Rare adut soid cancers
11 s r e c n d i o s t e r a R u d a a c
12 Source of Errors in Pathoogy of Rare Cancers Insufficient exposure to significant number of cases 5-6 cases/ Low impact of educationa efforts Lack of reinforcement Rare adut soid cancers
13 Diagnostic Errors in Pathoogy of Rare Cancers Cinica trias 7-10% Second opinion 15-35% Rare Cancer Networks 5-40% Rare adut soid cancers
14 What about Itay? Informa survey on Rete Tumori Rari Approx 500 cases Evauation of major and minor discordances Rare adut soid cancers
15 Major discordances: benign esions misdiagnosed as maignant maignant esions misdiagnosed as benign non mesenchyma esions misdiagnosed as sarcoma carcinoma; meanoma; NHL other changes in histotype impacting treatment choices Minor discordances: changes in histotype non impacting treatment Rare adut soid cancers
16 Resuts Diagnosis confirmed 197/365 (54%) Major discordances 131/365 (36%) Minor discordances 17/365 (5%) No diagnosis at origin 20/365 (5%) Rare adut soid cancers
17 Errors in Pathoogy of Rare Cancers Avoid bame and shame attitude Risk management Transparent management of second opinion Best strategy to minimize medica itigation Rare adut soid cancers
18 A n n O n co 2012;23:2442 Rare adut soid cancers
19 Source of Errors in Pathoogy of Sarcomas/Rare Cancers Diagnosis intrinsicay difficut Common criteria of maignancy not aways appicabe Severa mimics Benign esions mimicking maignancies and vice versa Compex integration of morphoogy, immunophenotype and genotype Faiure of anciary techniques Rare adut soid cancers
20 Diagnosis intrinsicay difficut Common criteria of maignancy not aways appicabe Low grade fibromyxoid sarcoma Mante ce imphoma Endocrine tumors Adrena tumors Parathyroid Subependima giant ce astrocytoma Rare adut soid cancers
21 Compex integration of morphoogy, immunophenotype and genotype Combination of morphoogic and moecuar expertise Main risk: good moecuar anaysis on the wrong tumors Rare adut soid cancers
22 Faiure of Anciary Techniques Immunohistochemistry IHC fase positivity/negativity Misinterpretation of immunoocaization Moecuar pathoogy/genetics Contamination: the t(x;18) saga GIST wid type EWS FISH spit apart approach Rare adut soid cancers
23 Continuous Evoution of Tumor Cassification Significant conceptua shifts Better understanding of tumor bioogy/genetics Rare adut soid cancers
24 Rare adut soid cancers
25 s r e c n CD99 d i o s t CK e r a R u d a EMA a c
26 EWSR1 Rare adut soid cancers
27 Rare adut soid cancers
28 Rare adut soid cancers
29 Source of Errors Lack of mutiprofessiona coaboration Imaging Cinica presentation Anatomic ocation Duration History of trauma Association with genetic syndromes Rare adut soid cancers
30 Rare adut soid cancers
31 More issues Incorrect identification of the specific histotype Round ce sarcoma, NHL, SNC tumors, germ ce tumors, NUT + carcinoma etc. Therapy associated histotypes MPNST vs LMS vs SS Target therapy associated histotypes GIST, DFSP, Chordoma, PEComa Risk assessment in GIST Rare adut soid cancers
32 How can we define expertise? Those characteristics, skis and knowedge of a person (that is, expert), which distinguish experts from novices and ess experienced peope. Rare adut soid cancers
33 How can we define expertise? The Expert is the individua who knows more and more of ess and ess At the end he knows everything about nothing Rare adut soid cancers
34 How can we promote expertise? Proper specific training Continuous access to cases Technica patforms IHC Moecuar genetics VEQ Rare adut soid cancers
35 Referra to expert rare cancer pathoogists is crucia for appropriateness Networks are the best too for proper referra Mutidiscipinarity is the best environment for rare cancer patient heathcare Rare adut soid cancers
36 Soutions Referra to centers of Exceence Bone, pediatric cancers Enforce Cinica Networks Reduction of socia costs Broadening of knowedge Diagnostic second opinion Rare adut soid cancers
37 >100 oncoogy units Rare adut soid cancers
38 R Rare adut soid cancers
39 Histotype-driven therapy GIST; imatimib/sunitinib/regorafenib DFSP and PVNS: imatinib IMT: crizotinib WD/DDLPS: anti MDM2/CDk4 Angiosarcoma: taxanes/gemcitabine Maignant PEComa: mtor inhibitors ASPS: sunitinib/cediranib SFT: sunitinib Leiomyosarcoma: gemcitabine/dacarbazine/trabectedin/pazopanib Myxoid iposarcoma: trabectedin/eribuin GCT/ABC: denosumab Rare adut soid cancers
40 Concusions Accurate diagnosis of rare cancers is a chaenge Integration of morphoogy, immunohistochemistry, and moecuar genetics Mutidiscipinary approach Rare Cancer Networks may represent the most effective soution Rare adut soid cancers
41 Rare adut soid cancers
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