POSTGRADUATE SCHOOL OF MEDICINE BIOLOGY AND CLASSIFICATION OF CANCER Dr J. A. Green and Dr Sarah Smith MDSC156: Acute Clinical Oncology A MEMBER OF THE RUSSELL GROUP CONTINUING PROFESSIONAL DEVELOPMENT Biology and Classification of Cancer 2 The Pathway to Cancer Series of events that fundamentally alter the properties of the cell that lead to: • • • • • Clonal proliferation Invasion Pre-malignant states Accumulation of mutations Resistance Nature vs Nurture i.e. inherited factors vs environmental factors e.g. BRCA1 vs Radiation Genetics of Cancer: • • Oncogenes myc, ras, src, abl, bcl2 Tumor suppressor genes p53, Rb, APC, MEN1, NF1 Biology and Classification of Cancer 3 Cancer Stem Cell – CD 133 staining Dr D Hapangama, University of Liverpool Clevers H . The cancer stem cell: premises promises and challenges. Nat Med, 2011; 12(3):313-319 Biology and Classification of Cancer 4 Characteristics of Neoplasm Possible Molecular Targets Self-sufficiency in cell growth EGFR, platelet-derived GF, MAPkinase, PI3K Insensitivity to anti-growth signals SMADs, pRb, cyclin-dependent kinases, myc Cell immortality h-TERT,pRb, p53 Evading apoptosis Bcl-2, Bax, capsases,Fas, TNF receptor, insulin GF/PI3K/AKT, mTOR, p53, NFκB, PTEN, Ras Sustained angiogenesis VEGF, basic fibroblast GF, integrins (α, β3 ), thrombospondin-1, HIF-1α Tissue invasion and metastasis MMPs, MAP kinase, E-cadherin Hanahan D, Weinberg RA. The hallmarks of cancer. Cell 2000; 100(1):57-70 Biology and Classification of Cancer 5 Emerging Characteristics of Neoplasm Deregulating cellular energetics Avoiding immune destruction Genome instability and mutation (an enabling characteristic) Tumour-promoting inflammation (an enabling characteristic) Hanahan D, Weinberg RA. Hallmarks of Cancer: The Next Generation. Cell 2011; 144(1):646-674 Biology and Classification of Cancer 6 Hanahan D, Weinberg RA. Hallmarks of Cancer: The Next Generation. Cell 2011; 144(1):646-674 Biology and Classification of Cancer Histopathological Confirmation Example: The Gleason Grading & Scoring System for Prostate Cancer Grades and scores prostate cancer based upon its microscopic appearance. The risk of developing metastatic spread increases with increasing score. i.e. Gleason score 2-4= 20%, score 5-7 = 40%, scores 8-10 =75%. The Primary Gleason grade has to be greater than 50% of the total pattern seen (i.e. the pattern of the majority of the cancer cells observed). The Secondary Gleason grade has to be less than 50%, but at least 5%, of the pattern of the total cancer cells observed. The sum of the primary and secondary Gleason grades is shown as the Gleason score or sum (i.e. primary grade + secondary grade = GS; i.e. 4+3 or 3+4 = GS 7). 7 Biology and Classification of Cancer 8 Well differentiated Modified Gleason system. Cribriform glands are only seen in patterns 4 and 5. Poorly formed glands are also a component of pattern 4. Poorly differentiated Epstein, J. Urol., 2010, An update of the Gleason grading system, 183 (2), 433-440 Biology and Classification of Cancer Gleason 3 Gleason 4 4 5 9 Biology and Classification of Cancer 10 Non Small Cell Lung Cancer (NSCLC) Classifications of Lung Cancer - Histological Subtypes Lung cancer Histologic diagnosis Small Cell Non- Small Cell Squamous 33% NSCLC NOS* 36% Large Cell Carcinoma 4% N.B 1) The remaining 2% of Squamous Carcinomas/non-squamous level are broncho-alveolar carcinoma and cancer in situ 2) Non-Squamous Carcinomas can be further divided into EGFR M+ (10-15%) and ALK+ (4%) * NOS- Not otherwise specified Travis 2004 Adenocarcinoma 25% EGFR mutations, ALK rearrangements Biology and Classification of Cancer 11 Molecular Staging NSCLC (a) Normal alveolar epithelium, negative staining (b) Normal bronchiolar epithelium, negative staining (c) Squamous cell carcinoma, negative staining (d) Adenocarcinoma with nuclear P-ERK staining (e) Squamous cell carcinoma with cytoplasmic and moderate nuclear staining (f) Adenocarcinoma with nuclear and extensive cytoplasmic staining. Vicent et al., BJC, ERK1/2 is activated in non-small-cell lung cancer and associated with advanced tumours, 2004, 90 (5), 1047-1052 Biology and Classification of Cancer 12 Cytology Exfoliative cytology - spontaneously shed cells in body fluids • • • • Urine CSF Sputum Effusions in body cavities (pleura, pericardium, peritoneum) Pros: non-invasive, fast, limited molecular characterisation Cons: not always diagnostic or accurate Note: Where possible tissue biopsy is recommended for definitive diagnosis Biology and Classification of Cancer Phases of Cancer Management Screening Diagnosis Prognosis Treatment options Personalisation Survivorship 13 Biology and Classification of Cancer 14 Diagnosis • Acute oncology component is accelerated presentation and implementation of diagnostic pathways. • Life saving management complicates what would otherwise be a process evolving over several weeks. Biology and Classification of Cancer 15 • Diagnosis – recognition of presenting signs, symptoms or syndromes e.g. SVCO Superior vena cava obstruction syndrome in a person with bronchogenic carcinoma. - Note the swelling of his face first thing in the morning (left) and its resolution after being upright all day (right). Image of patient with superior vena cava syndrome. Licensed CC BY 2.0 by Herbert, Fred & Hendrik Biology and Classification of Cancer 16 Staging • Clinical Staging – clinical manifestations, tumour size, degree of metastasis. Tests such as CT scans, x-rays and biopsies may be performed. • Surgical Staging- tumour size, number, sites and degree of metastasis. • Pathologic Staging- most definitive. Tumour size, number, sites, and degree of metastasis are determined by pathologic examination of tissue obtained at surgery. • Molecular stage – incorporation of biomarkers either in tumour or blood eg CEA, CA125, Circulating TCs Biology and Classification of Cancer 17 TNM Classification Primary Tumour (T) T0 No evidence of primary tumour TIS Carcinoma in situ T1 Tumour invades submucosa T2 Tumour invades muscle T3 Extensive muscle invasion T4 Tumour invades deep into muscles or directly invades other organs and structures Lymph Nodes (N) N0 No regional nymph node metastases N1 Metastases in one to three lymph nodes. 1-3cm. Palpable and moveable. N2 Metastases in four or more lymph nodes. 3-5cm. Firm to hard. N3 Metastases in any lymph node along course of a major named vascular trunk. Fixed. Usually greater than 6cm. Distant Metastasis (M) M0 No distant metastases M1 Distant metastases Biology and Classification of Cancer Staging Grouping Stage 0 TIS, N0, M0 Stage I T1, N0, M0; T2, N0, M0 Stage II T3, N0, M0, T4, N0, M0 Stage III Any T, N1, 2. or 3, M0 Stage IV Any T, any N, M1 Grading System GX Grade cannot be assessed G1 Well-differentiated G2 Moderately well-differentiated G3 Poorly differentiated G4 Undifferentiated 18 Biology and Classification of Cancer 19 Classifying Breast Cancer using TNM Stage TNM Classifications Description Prognosis Stage 0 TIS, N0, M0 in situ breast cancer - DCIS Stage I T1, N0, M0 Small tumour localised to the breast > 85% Stage IIa T0-1, N1, M0, or T2, N0, M0 Stage IIb T2, N1, M0, or T3, N0, M0 2-5cm tumour with no lymph node involvement/small tumour with 1 to > 20 nodes 60-85% Stage IIIa T0-2, N2, M0, or T3, N1-2, M0 Stage IIIb T4, N (any), M0, or T(any), N3, M0 Stage IV T(any), N(any), M1 Large tumour > 5cm with +ve nodes/ tumour which invades the skin or chest or < 50% fixed & matted lymph nodes Any distant spread of cancer < 20% Biology and Classification of Cancer 20 Breast Cancer Subtyping • Systematic investigation of gene expression patterns in tumours using cDNA microarrays, and their correlation to specific features of phenotypic variation, might provide the basis for improved cancer classification • Classification of tumour based on gene expression patterns can be used as a prognostic marker • Indication of potential relapse in patients • Survival in patients Biology and Classification of Cancer Breast Cancer Subtyping RNA profiling Her2 +ve Luminal A Luminal B Triple negative/ Basal Normal like 21 Biology and Classification of Cancer 22 Molecular Profiling The same gene / signal transduction pathways can be affected within the same tumour • Therapeutic target • Personalised treatment Profiling tumour gene expression can affect prognosis and determine patient treatment • Specific mutations can indicate the progression of specific carcinomas i.e. EGRF activating mutations in NSCLC • Can indicate drug resistance or treatment failure i.e. EML4-ALK mutations can suggest crizotinib resistance • Tumour genetic heterogeneity might provide a tumours vulnerability i.e. Presentation of tumour neoantigens to the immune system Biology and Classification of Cancer 23 Mutation spectra across endometrial carcinomas G Getz et al. Nature 497, 67-73 (2013) Biology and Classification of Cancer 24 Summary • Various classification systems by tumour type • Tumour subtype becoming more commonly based on histology • • E.g. ovarian cancer serous, mucinous, clear, lung – squamous/nonsquamous Companion biomarkers e.g. • • • • ER,PR,HER2+ and triple negative breast cancer kras status in colorectal cancer EGFR mutation positive NSCLC Grade less accurate for some tumour types • i.e. sarcomas Biology and Classification of Cancer 25 References • Clevers H . The cancer stem cell: premises promises and challenges. Nat Med, 2011; 12(3):313-319 • Hanahan D, Weinberg RA. The hallmarks of cancer. Cell 2000; 100(1):57-70 • Hanahan D, Weinberg RA. Hallmarks of Cancer: The Next Generation. Cell 2011; 144(1):646-674 • Epstein, J. Urol., 2010, An update of the Gleason grading system, 183 (2), 433-440 • Travis 2004 • Vicent et al., BJC, ERK1/2 is activated in non-small-cell lung cancer and associated with advanced tumours, 2004, 90 (5), 1047-1052 • Sorlie PNAS 2001 • G Getz et al. Nature 497, 67-73 (2013) FACULTY OF HEALTH & LIFE SCIENCES – CPD Institute for Learning & Teaching Faculty of Health & Life Sciences Room 2.16A, 4th Floor Thompson Yates Building Brownlow Hill Liverpool L69 3GB www.liv.ac.uk/learning-and-teaching/cpd A MEMBER OF THE RUSSELL GROUP