Targeting mammary stem cells for breast cancer prevention

Max Wicha M.D. Cancer Stem Cell Hypothesis

Cancers Arise from Cells with Dysregulated Self-Renewal

Cancers Are “Driven” By Cells With Stem Cell Properties Stem cells as targets for cancer prevention HYPOTHESIES If cancers arise in self-renewing cells then: • Stem/Progenitor cell number may be a cancer risk factor • Targeting tissue stem/progenitor cell self- renewal pathways may reduce cancer risk • Tissue stem cell and self-renewal pathway components may be useful biomarkers for cancer prevention studies

characteristics of stem cells

• self renewal • differentiation into multiple cell types

• types of stem cells embryonic adult • cancer

Alveolar cells Quiescent pool Luminal cells ofcell stem

carcinogenesis and breast cells Stem

DIFFERENTIATION Myoepithelial cells Late Progenitor Early Progenitor Stem cell

Cancercell stem

Cancercell stem

Reduction mammoplasties

“Mammosphere” Suspension culture (Serum-free, EGF, …) Culture Systems

Mammospheres

Dissociated to single cells

Acinar Ductal- acinar Regeneration of the mammary N generation of spheres Mixed Myoepithelial Epithelial structure structure gland in the cleared fat- pad

B. Differentiation in C. Differentiation in A. Self- renewal D. Differentiation and in vitro vitro in 2- D culture vitro in 3- D culture self- renewal in vivo (Suspension) (Collagen) (Matrigel ) (NOD/SCID mice) Dontu & Wicha, 2003 Dontu & Wicha, 2003 Weaver & Bissell, 1999 Kuperwasser & Weinberg, 2004 Dontu & Wicha, 2003 Liu & Wicha, 2006 ALDEFLUOR + cells in Normal breast epithelium

BAAA

ALDH

DEAB

With DEAB Without DEAB

6% of ALDEFLUOR positive cells in Normal breast epithelium

6% Ginestier et al Cell Stem Cell 2007 ALDEFLUOR+ cells have stem cell properties

Culture in suspension

With DEAB Without DEAB

Only ALDEFLUOR + cells

generate mammospheres

in suspension ALDEFLUOR+ cells have stem cell properties

Without DEAB

CK18 SMA ALDEFLUOR+ Luminal cells CK18+ Myoepithelial cells SMA+

ALDEFLUOR-

ALDEFLUOR- ALDEFLUOR+

Ginestier, 2007 Models of Tumor Heterogeneity

Stochastic model Cancer stem cell model

CSC

CSC

CSC

CSC

Cancer cells are heterogeneous, Cancer cells are heterogeneous, but most cells can proliferate and only rare cancer stem cells extensively and form new tumors. have the ability to proliferate extensively and form new tumors.

Reya et al 2001 Tumor Formation by Human Breast Cancer “Stem Cells”

20,000 200

CD44- CD44+ CD24+ CD24- Cells Cells

Al Hajj et al PNAS 2003 Stem Cell Markers

• CD44 • CD24 • Aldehyde Dehydrogenase ( Christophe Ginestier) • Oct-4 • Bmi-1 • Nuclear B-Catenin

ALDEFLUOR+ population and tumorigenicity

With DEAB Without DEAB ALDEFLUOR- ALDEFLUOR+

R1 R2 R1 R2

5% to 10% of ALDEFLUOR + population in Breast tumors

ALDEFLUOR- ALDEFLUOR+ 50,000 cells 50,000 cells ALDEFLUOR – ALDEFLUOR + 5000 cells 5000 cells 50,000 cells 500 cells 500 cells 500 cells ALDEFLUOR+ population and tumorigenicity

ALDEFLUOR - ALDEFLUOR +

ALDEFLUOR+ population regenerates heterogeneity of the initial tumor Overlap between CD44+CD24- and ALDEFLUOR+ Populations

Ginestier et al Cell Stem Cell 2007 Breast Cancer Development Luminal Myoepithelial

Normal duct Hyperplasia In situ carcinoma Invasive carcinoma Aldefluor + cells are invasive and metastatic U (-) (+) HCC1954HCC1954 (100k)

500 100,000 ALDELFUOR-positive 450 100,00 ALDEFLUOR-negative 400 350 100,000 Unseparated 300 Positive E 250 Negative 200 Unsorted 150 100 50 Normalized Flux Photon Normalized Photon Flux Photon Normalized 0 1 2 3 4 5 6 7 8 F WeeksWeeks after after injection injection B

600 MDAMDAMB453-MB-453 (100k) K

500 500 450 100,000 ALDELFUOR-positive 400 400 100,00 ALDEFLUOR-negative 350 300 300 100,000 Unseparated 250 Positive G 200 200 Negative 150 Unsorted 100 100 Relative invasion rate Normalized Flux Photon 50

Normalized Photon Flux Photon Normalized 0 0 L 1 2 3 4 1 2 3 4 5 ALDEFLUOR + + + + + + ------Weeks after injection BrCa-MZ-01 MDA-MB-453 SUM159 Weeks after injection C H

IL8 - - - + + + - - - + + + SUM159SUM159 (100k) HCC1954 MDA-MB-453 SUM159 30 A 100,000 ALDELFUOR-positive 25 100,00 ALDEFLUOR-negative 20 100,000 Unseparated Positive 15 Negative Unsorted I M 10

5 Normalized Flux Photon

Normalized Photon Flux Photon Normalized 0 1 2 3 4 5 Weeks after after injection injection D J Cancer Stem Cells: Implications For Metastasis

TDC only No Metastases CSC=Cancer Stem Cell TDC=Terminally Differentiated Cell NO CSC

1o Tumor CSC with FULL malignant potential Metastases in months to few years TDC TDC Subsequently to other sites TDC CSC TDC TDC TDC

CSC with PARTIAL malignant potential Dormancy followed by Metastases after many years:

Secondary Oncogenic “Hits” and/or Changes in Microenvironment Carcinogenesis

Stem cell regulation

Dysregulation

Cancer TUMOR Microenvironment Stem Cell Generation Tumor Microenviornment and the “CSC Niche”

• The Microenvironment (“Stem cell niche”) contains fibroblasts, endothelial cells, inflammatory cells and mesenchymal stem cells recruited from bone marrow. • The Microenvironment plays an important role in normal mammary development as well as tumor growth and metastasis.

> Bone marrow derived mesenchymal stem cells are recruited to murine breast carcinomas (Karnoub 2007). • regulate breast cancer stem cells. > IL6 increases breast cancer stem cells (Sanson 2008). > IL8/CXCR1 axis regulates breast cancer stem cells (Charafe-Jaffret Cancer Research 2009)

Effects of Cytokines on breast cancer stem/progenitor cell population

A 14 12

10

- positive 8

6

4 SUM159 cells (%) ALDEFLOUR-positive cells (%)

ALDEFLOUR 2

0 Co- Control 2 ug/ml 1 ug/ml 10 ng/ml 10 ng/ml 100 ng/ml 100 ng/ml Co- 100 ng/ml culture N.T. CXCL12 ug/ml CXCL51 ug/ml CXCL610 ng/ml CXCL710 ng/ml IL6 100IL8 ng/ml culture CXCL1 CXCL5 CXCL6 CXCL7 IL6 IL8 SUM159

B 16

12 - positive 8

4 SUM159 cells (%) ALDEFLOUR ALDEFLOUR-positive cells (% cells ALDEFLOUR-positive 0 10 ug/ml SUM159SUM159 ControlN.T. 100100 ug/ml ug/ml 5050 ug/ml ug/ml 2020 ug/ml ug/ml 100100 ug/ml ug/ml 10 ug/ml anti-IL8 alonealone anti-CXCL5anti-CXCL5 anti-CXCL6anti-CXCL6 anti-CXCL7anti-CXCL7 anti-IL6anti-IL6 anti-IL8 Co-culture Model of networks between MSC and breast cancer cells

CXCL7 Bulk Tumor Mesenchymal Cells Cells ALDH- CXCR2 ALDH+ ALDH- IL-6R ALDH- gp130 IL-6

CXCL1 CXCL5 CXCL6 IL-8 IL-6

CXCR1 IL-6R gp130 Stem cell self Cancer renewal Stem Cell

S. Liu Canc. Res. 2011 Regulation of CSC’s by cytokine loops in the tumor microenviornment

Korkaya & Wicha JCI, 121(10):3804-09, 2011 Diet ,exercise and breast cancer risk

Neilson H K et al. Cancer Epidemiol Biomarkers Prev 2009;18:11-27 Fas-Ligand IL-8 IL-8 Fas-Ligand IL-8 IL-8 Chemotherapy Fas CXCR1 Fas

FADD PI3-K FADD FAK PTEN

AKT Apoptosis Self- FOXO3a IL-8 IL-8 β-catenin IL-8 Renewal GSK3β

β-catenin Wnt pathway IL-8 TCF targets, Fas-Ligand Self-renewal Fas-Ligand

A Cancer stem cell Bystander effect Bulk tumor cells

Repertaxin Fas-Ligand Fas-Ligand Chemotherapy Fas Fas CXCR1

FADD FADD

FAK

FOXO3a Apoptosis Apoptosis IL-8 IL-8 AKT Death IL-8

FOXO3a IL-8 Fas-Ligand Fas-Ligand Fas-Ligand

Cancer stem cell Bystander effect Bulk tumor cells B Stem Cell Equilibria

miR-93

EMT MET Differentiation

TGF-b Il6 Quiescent Cycling

Vimentin + Vimentin - Epcam (ESA) - Epcam (ESA) + p53 p53 p21 p21

CD44+/CD24- Aldefluor +

E Cadherin - E Cadherin +

44+/24- Highly Tumorigenic

Aldefluor+ Recapitulation of Tumors Via CSC Metastasis

Breast Tumor Micrometastasis Macrometastasis

Vasculature

Aldefluor + Invasive Edge of Tumor

Time

CD44+/CD24- Distal Healthy Organ

Necrotic Distal Colonized Organ Zone

EMT MET Strategic Approach to Preventive Therapeutics

Genetic Estimated Toxicity Background Lifetime Risk I N C R E A S E

NUTRITION I N C R E A S E BOTANICAL Sporadic <10% BASED

Haplotype-SNP 10%-40% I1307K

PHARMACEUTICAL Familial Syndrome >40% BASED (BRCA)

Kakalara Self Renewal and Differientiation Pathways In Breast Stem Cells

ER- stem cells

SC SC SC Her2 Self renewal SC Notch Bmi-1 BRCA-1 Hedgehog PTEN

ER+ Progenitor cells

Differentiation Myoepithelial cells Alveolar epithelial cells

Ductal epithelial cells

A Conceptual Link Between Hereditary & Sporatic Breast Cancers Wnt Wnt IL-8 IL-8 IL-8 IL-8 LRP CXCR1 Repertaxin HH PI3-K HH PTCH Frizzled Perifosine HH FAK

DSH GSK3β AKT FU

SMO PTEN Cyclopamine β-catenin RTKs Src HER2 SUFU β-catenin

GLI TCF Trastuzumab

GLI Bmi-1

STAT3 NOTCH HES DSL HER2

DSL

NICD STAT3 Anti-DLL4 γ-secretase JAK3 gp130 IL-6R GSI CXCR2 IL6 IL6 IL6 Cancer stem cell Monoclonal Abs Breast Tumor IL-8 CXCL7 IL-6 IL-6R gp130 Targeting Self-Renewal Pathways in CSC’S

Mesenchymal Cells Broccoli could stop breast cancer spreading by targeting stem cells

Broccoli contains sulforaphane, which seemed to kill off cancer stem cells in tests

Figure 2. A Primary Mammospheres B Mammosphere Size

120.0 MCF7 0 µM 0.5 µM 1 µM 5 µM 100.0 SUM1… SF SF SF SF 80.0 MCF7 ** 60.0 ** ** **

40.0 ****

Sphere formation Sphere formation 20.0 SUM159

normalized to control (%) 0.0 0 0.5 1 5 Concentration of SF (µM)

C 2nd Passage 3rd Passage

120.0 140.0 MCF7 MCF7 100.0 SUM159 120.0 SUM159 100.0 80.0 ** 80.0 * 60.0 ** 60.0 * 40.0 ** ** 40.0

Sphere formation Sphere formation 20.0 ** Sphere formation 20.0 ** ** ** normalized to control (%) 0.0 normalized to control (%) 0.0 0 0.5 1 5 0 0.5 1 5 Li CCR 2010 Concentration of SF (µM) Concentration of SF (µM) Figure 3. A P=0.003

4 P=0.008 3.5 3 2.5 2

positive cells - positive 1.5 1 0.5 % ALDH % 0 0 1 5 B Concentration of SF (µm Control 1 µM SF 5 µM SF

3.01% 1.47% 0.49% B

A 25 ) 500 1st Generation 1st Generation 3

400 Control 20 50 mg/kg SF 300 P=0.018 15 200 10 100 Control Body weight (g) weight Body 50 mg/kg SF Tumor volume (mm volume Tumor 0 5 13 18 23 28 33 13 18 23 28 33 Days after inoculation Days after inoculation

3.00 C P=0.003 D 2.50 2.00 Control Treatment 1.50 cells positive - 1.00 0.50

% ALDH 0.00

2.39% 1.08% A 2nd Generation 1000

100 )

3 P=0.007 10 Control group 1 P=0.0006 (mm Control group 2 1 SF group 1 Tumor volume SF group 2 0.1 5 15 25 35 Days after inoculation C B 2nd Generation

120 100 80 60 40 Control 20 0 free mice Tumor - free % 0 20 40 Control SF group Days after inoculation SF (µM) 4 d SF (5 µm) A MCF7 0 1 5 10 0 1 2 4 d β-catenin cyclin D1 β-actin SF (µM) 4 d SF (5 µm) SUM159 0 1 5 10 0 1 2 4 d β-catenin cyclin D1 β-actin B C TOP-dGFP TOP-dGFP+SF P<0.0001 P<0.0001 18.00 16.00 14.00 12.00 10.00 8.00 6.00 3.04% 2.13%

positive cells positive 4.00 P=0.002 - 2.00 TOP-dGFP+BIO TOP-dGFP+BIO+SF 0.00 % dGFP

16.56% 6.92% Stages of Cancer Progression and Its Suppression by Curcumin

Constitutive activation of Overexpression of Overexpression of transcription factors -Oncogenes -MMPs -AP -1, NFκB -Her 2 -Cox 2 -Tumor Suppressor -Growth factors eg. EGF, PDGF -adhesion molecules Modulation of Signaling -Survival factors eg. Survivin, bcl - - Wnt/β catenin 2, bcl-xl -TNF -Notch -Cyclin D1

transformation proliferation invasion Normal Tumor Tumor Tumor Cells cells growth metastasis

Curcumin Aggarwal et al Anticancer Research 23, 2003:363-398

Using human stem cells as a screening system for chemopreventive efficacy, in vivo biomarker of efficacy and assay for mechanism

DMSO control 10 µM curcumin

Kakarala et al, Breast Cancer Res Treat; 2010. Effect of Curcumin and Piperine on ALDH+ cells (%)

10 9 8 7 6 5 4 3 2

% ALDH1A1+ Cells % 1 0

NT C5 C10 P10

C10+P10 Curcumin and Piperine Concentration (µM)

Kakarala et al, Breast Cancer Res Treat; 2010. Breast Cancer Prevention Strategy Curcumin/Piperine Targeting Stem Cells

Preclinical Research: Stem cell self renewal, differentiation, signaling (ongoing)

Phase I Clinical Trial Bioavailability/Toxicity (Spring 2010)

Phase II Clinical Trial BRCA1 Patients Curcumin/Piperine (2011) Kakalara & Brenner Stem Cells in Breast Cancer Risk reduction,Early detection,Prevention and Therapy

Risk reduction

Polyphenols

Example: curcumin genistein Hyperplasia Risk reduced tissue

Early detection Detection of expanded stem cells or secreted markers Secreted cancer stem cell markers Example: EZH2

Primary prevention Apoptosis or differentiation of initiated stem cells Residual non-tumorigenic cells Example: Vitamin D

Treatment Recurrence Conventional therapy

Residual metastases Recurrence

Targeting cancer stem cells

Inhibitors of Hedgehog, Notch, Residual non-tumorigenic cells Wnt signaling Example: Gamma secretase Cure inhibitor Residual non-tumorigenic cells at distant sites Acknowledgements

• Hasan Korkaya • Duxin • Madhuri Kakarala Sun • Dan Hayes • Kathy Day • Suthinee Ithimakin • Dafydd Thomas • Suling Liu • Tom Bersano • Shawn Clouthier • Dean Brenner • Mark Diebel • Amanda Paulson • Wissam Abdallah • Min Hee Hur • Greg Hannon • Kyle Jackson • Emmanuelle Jauffret • Jessica Foley • Mari Kawamur • Daniel Birnbaum