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Our service for diagnostic, prognostic and predictive insights to support treatment of haematological malignancies and sarcomas.1*

Use multiple sample typesClear in-depth reportDNA+RNAReports TMB and MSI to help explore the role of immunotherapies1Sequences RNA of 265 genes to capture a broad range of gene fusions1Personalised treatment TMB and MSITMBMSI

Comprehensive assessment in a single test

FoundationOne Heme comprehensively analyses the cancer genome to identify clinically relevant genomic alterations in haematological malignancies and sarcomas.1-2
Base substitutionsRearrangementsTumour mutationalburdenMicrosatellite instabilityTMBMSISequences RNA of 265 genes to capture a broad range of gene fusions1Reports TMB and MSI,which can help inform the use of immunotherapies1

Delivers insights in a single test, thus saving time and avoiding repeat biopsy versus sequential biomarker testing1

Integrated DNA and RNA sequencing helps identify common, rare, and novel gene fusions and rearrangements1,2

Distribution of rearrangements called by detection method2

DNARNADNA+RNADNA sequencing allows high sensitivity for well-characterised rearrangements rearrangements that do not result in expression of a fusion transcriptRNA sequencing captures a broad range of gene fusionsIntegrated DNA and RNA sequencing for detection of complex genomic rearrangementsData shown for 20% tumour purity. Sequencing was carried out on 21 pooled cell lines with 28 known genomic rearrangementsData generated from cell line mixes with known rearrangements/fusions.DNARNADNA+RNANumber of rearrangements05101520253035404550

Supports clinical decision-making

A clear, in-depth report supports your clinical decision-making by providing insights on the genomic profile of your patient as well as associated targeted therapies, immunotherapies and relevant clinical trials. The report also highlights important diseaserelevant genes with no reportable alterations identified and genomic alterations associated with potential resistance to therapy, to help rule out ineffective treatment.23
ORD-XXXXXXX-XXORDERED TEST #FRCOUNTRY CODEREPORT DATELung adenocarcinomaTUMOR TYPE999999999, FRPATIENT FoundationOne®Liquid CDx is a next generation sequencing (NGS) assay that identies clinically relevant genomic alterations in circulating cell-free DNA.ABOUT THE TESTLung adenocarcinomaDISEASE999999999, FRNAMENot GivenDATE OF BIRTHNot GivenSEXNot GivenMEDICAL RECORD #PATIENTNot GivenORDERING PHYSICIANNot GivenMEDICAL FACILITYNot GivenADDITIONAL RECIPIENTNot GivenMEDICAL FACILITY IDNot GivenPATHOLOGISTNot GivenSPECIMEN IDBloodSPECIMEN TYPENot GivenDATE OF COLLECTIONNot GivenSPECIMEN RECEIVEDPHYSICIANSPECIMEN0.20%exon 19 deletion (L747_A750>P)EGFR5 Muts/Mb1Afatinib1Erlotinib1Dacomitinib1Gefitinib1Osimertinibsee p. 1110 TrialsTHERAPY AND CLINICAL TRIAL IMPLICATIONSGENOMIC SIGNATURESBlood Tumor Mutational Burden -THERAPIES APPROVED IN THE EU (IN OTHER TUMOR TYPE)THERAPIES APPROVED IN THE EU (IN PATIENT'S TUMOR TYPE)GENE ALTERATIONSNo therapies or clinical trials.see Genomic Signatures section Unable to determine Microsatellite status due to insufficient evidence of genomic instability. Tumor fraction is an estimate of the percentage of circulating-tumor DNA (ctDNA)present in a cell-free DNA (cfDNA) sample based on observed aneuploid instability.Cannot Be DeterminedMicrosatellite status13%Tumor FractionEGFR exon 19 deletion (L747_A750>P)TP53 R267PFor a complete list of the genes assayed, please refer to the Appendix.Gene AlterationsGenomic SignaturesCannot Be DeterminedMicrosatellite status5 Muts/MbBlood Tumor Mutational Burden13%Tumor FractionNCCN Category Clinical Trials 10Therapies with Lack of Response 0Therapies Approved in the EU5Electronically Signed by Julia A. Elvin, M.D., Ph.D. • 01 June 2020 Julia Elvin, M.D., Ph.D., Laboratory Director CLIA: 22D2027531Shakti Ramkissoon, M.D., Ph.D., M. M. Sc, Laboratory Director CLIA: 34D2044309Foundation Medicine, Inc. • 1-888-988-3639Sample Preparation: 150 Second St., 1st Floor, Cambridge, MA 02141 • CLIA: 22D2027531Sample Analysis: 150 Second St., 1st Floor, Cambridge, MA 02141 • CLIA: 22D2027531Post-Sequencing Analysis: 150 Second St., 1st Floor. Cambridge, MA 02141 • CLIA: 22D2027531 of PAGEORD-XXXXXXX-XXORDERED TEST #REPORT DATELung adenocarcinomaTUMOR TYPE999999999, FRPATIENTp. 5GENE ALTERATIONS WITH NO REPORTABLE THERAPEUTIC OR CLINICAL TRIALS OPTIONSFor more information regarding biological and clinical signicance, including prognostic, diagnostic, germline, and potential chemosensitivi implications, see the Gene Alterations section.TP53C242GNOTE Genomic alterations detected may be associated with activity of certain approved therapies; however, the therapies listed in this report may have varied clinical evidence in the patients tumor type. Therapies and the clinical trials listed in this report may not be complete and/or exhaustive. Neither the therapies nor the trials identified are ranked in order of potential or predicted efficacy for this patient, nor are they ranked in order of level of evidence for this patients tumor type. This report should be regarded and used as a supplementary source of information and not as the single basis for the making of a therapy decision. All treatment decisions remain the full and final responsibility of the treating physician and physicians should refer to approved prescribing information for all therapies. Therapies contained in this report may have been approved through a centralized EU procedure or a national procedure in an EU Member State. Therapies, including but not limited to the following, have been approved nationally in some EU Member States but may not be available in your Member State: Tretinoin, Anastrozole, Bicalutamide, Cyproterone, Exemestane, Flutamide, Goserelin, Letrozole, Leuprorelin, and Triptorelin. The Summary of Product Characteristics of EU approved therapies are available at https://www.ema.europa.eu/en/medicines. The information available on EMA's website is updated in regular intervals but may not reflect the current status at any time. In the appropriate clinical context, germline testing of APC, BRCA1, BRCA2, BRIP1, MEN1, MLH1, MSH2, MSH6, MUTYH, NF2, PALB2, PMS2, PTEN, RAD51C, RAD51D, RB1, RET, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TGFBR2, TP53, TSC1, TSC2, VHL, and WT1 is recommended.1456Biomarker findingsIdentifies microsatellite instabilityGenomic FindingsClinically relevant alterations in406 tested cancer-related genesGenomic findings with no reportable optionsTo help rule out uncertainty and determine themost appropriate course of actionMutant allele frequency percentage (MAF%)For base substitutions, insertions anddeletions (indels)125Therapies and trialsClinically relevant targeted therapies andclinical trials for each identified alteration tohelp guide treatment strategies361243

Reports four main classes of alterations spanning the DNA of 406 genes and the RNA of 265 genes in just 3 weeks following receipt of the sample at our laboratory1

Personalises treatment plans in haematological malignancies

FoundationOne Heme enables guideline-recommended testing to help guide diagnosis, prognosis and treatment selection, with the potential to improve patient outcomes.1,4- 17
Haematological malignanciesImproves diagnosis Confirms malignancy and disease subtype1,12,13Informs prognosis• Supports risk stratification and treatment planning1,4,11,1417,24Supports treatment selection Identifies targeted therapies, immunotherapies and relevant clinical trials associated with your patients genomic profile23

Using FoundationOne Heme for haematological malignancies

AMLTo identify genomic alterations for prognostication, therapy selection and clinical trial enrolment e.g. KIT, FLT3-ITD, NPM1, and CEBPA1,2,5 MMTo identify t(4;14), t(14;16) and del(17)p to support risk stratication as well as other genomic alterations that may guide therapy selection and clinical trial enrolment (e.g. KRAS, NRAS, BRAF and others)1,2,7,26MDS/MPNTo identify genomic alterations for prognostication, therapy selection and clinical trial enrolment e.g. JAK2, CALR, MPL and others1,2,6,10DLBCLTo identify genomic alterations to inform diagnosis and prognosis (MYC, BCL2, and BCL6) and those with known therapeutic associations (e.g. EZH2, TET2, CD79, PTEN and others)1,8,14,27ALLTo identify BCR-ABL1 and Ph-like fusions, point mutations which may confer sensitivity to TKIs, and other clinically relevant genomic alterations (e.g. JAK2, CRLF2 and others)1,2,4,25CLLTo identify genomic alterations which can inform prognosis (IGH gene rearrangements and TP53) and guide therapy selection (TP53, BTK and PLCG2)1,11,28,31

Personalises treatment plans for sarcomas

FoundationOne Heme helps guide diagnosis, prognosis and treatment select ion, with the potential to improve outcomes for sarcoma patients.1,3,18-20
SarcomaImproves diagnosis More than 50 histological subtypes and new genomic findings which continue to refine sarcoma classification (e.g. CTNNB1 in desmoid tumours)18,19,20 Accurate diagnosis is a crucial first step in determining your patients treatment plan1,3,18–20Informs prognosis Identifies gene fusions with prognostic value (e.g. PDGFRA in GIST, PAX7-FOXO1 and PAX3-FOXO1 in alveolar RMS)1,18Supports treatment selection Detects NTRK gene fusions, an alteration found in certain sarcoma subtypes that is the target of emerging therapies1,32,33 Identifies GIST patients with KIT or PDGFRA alterations, which may predict response to targeted therapy1,3,19,34 Identifies relevant clinical trials, an integral part of sarcoma management given the limited number of therapeutic options1,3,19,21

High clinical utility in paediatric patients

  1. FoundationOne Heme is for haematological malignancies and sarcomas, which have relatively high incidences among malignancies in the paediatric population18,35
  2. FoundationOne Heme integrates DNA and RNA sequencing to identify complex genomic rearrangements, which are characteristic of haematological malignancies and sarcomas in paediatric patients1,13,35-38
Age groupFusion prevalence in AML patients by age1Fusion prevalence (%)1003020100<540506070809051516–2526–4041–5556–656675>75
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Order FoundationOne Heme

Experience how FoundationOne Heme can guide diagnosis, prognosis and treatment selection, and help personalise your patients' treatment plans.1- 3

FoundationOne Heme samples can be shipped to our Penzberg (Germany) or Cambridge (US) laboratories for patients in the EU or the rest of the world, respectively, enabling more patients to benefit from comprehensive genomic profiling with FoundationOne Heme.

Acceptable specimen types:

1. For haematological malignancies, multiple specimen types are acceptable; FoundationOne Heme has been validated with blood, bone marrow aspirate and FFPE tissue samples1,39

2. For sarcoma, please use FFPE tissue samples39

3. Our dedicated c lient service team offers information and support to ensure specimen requirements for analysis are met

"Base substitutions, insertions or deletions, copy number alterations and gene rearrangements.

†Peripheral blood and bone marrow aspirate must be received the day after collection for optimal analysis as sensitivity of detection may degrade with t ime. Samples arriving later will result in a Qualified Report. FFPE block or slides are also accepted.

AML, acute myeloid leukaemia. ALL, acute lymphoblastic leukaemia. CLL, chronic lymphocytic leukaemia. GIST, gastrointestinal stromal tumours. DLBCL, diffuse large 8-cell lymphoma. FFPE, formalin-fixed paraffin-embedded. MOS, myetodysplastic syndrome. MM, multiple myeloma. MPN, myeloproliferative neoplasms. MSI, microsatellite instability. RMS, rhabdomyosarcoma. TKI, tyrosine kinase inhibitor. TMB, tumour mutational burden.

References
  1. FoundationOne®Heme Technical Specifications, 2019. Available at: www.foundationmedicine.com/genomic-testing/foundation-one-heme (Accessed August 2020).
  2. He J et al. Blood 2016; 127: 3004–3014.
  3. Gounder M et al. Presented at ASCO Annual Meeting 2017, Chicago (Illinois), USA: Abstract #11001 and oral presentation.
  4. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Acute Lymphoblastic Leukaemia. V.1.2018, 2018. Available at: https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed August 2020).
  5. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Acute Myeloid Leukaemia. V.1.2019, 2019. Available at: https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed August 2020).
  6. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Myelodysplastic Syndromes. V.2.2019, 2018. Available at: https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed August 2020).
  7. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Multiple Myeloma. V.2.2019, 2018. Available at: https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed August 2020).
  8. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). B-cell Lymphoma. V.1.2019, 2018. Available at: https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed August 2020).
  9. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). T-cell Lymphoma. V.2.2019, 2018. Available at: https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed August 2020).
  10. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Myeloproliferative Neoplasms. V.2.2019, 2018. Available at: https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed August 2020).
  11. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Chronic Lymphocytic Leukaemia. V.5.2019, 2018. Available at: https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed August 2020).
  12. Morley S et al. Blood 2015; 126: 3898.
  13. Kobos R et al. Presented at ASH Annual Meeting 2016, San Diego (California), USA: Abstract 1605.
  14. He J et al. Presented at ASH Annual Meeting 2015, Orlando (Florida), USA: Abstract 2651.
  15. Galanina N et al. Cancers (Basel) 2018; 11.pii: E11.
  16. Goodman AM et al. JCO Precis Oncol 2017. doi: 10.1200/PO.16.00004. 
  17. Heuck C et al. Blood 2015; 126: 369.
  18. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Soft Tissue Sarcoma. V.2.2019, 2019. Available at: https://www.nccn.org/professionals/physician_gls/recently_updated.aspx (Accessed August 2020).
  19. Groisberg R et al. Oncotarget 2017; 8: 39254–39267.
  20. Doyle LA et al. Cancer 2014; 120: 1763–1774.
  21. Cote GM et al. Oncologist 2018; 23: 234–242.
  22. Chmielecki J et al. Cancer Res 2017; 77: 509–519.
  23. Data on file: FoundationOne®Heme Sample Report. 2018.
  24. Chavan SS et al. Blood Cancer J 2017; 7: e535.
  25. Severson EA et al. Presented at ASH Annual Meeting 2017, Atlanta (Georgia), USA: Abstract 476.
  26. Bustoros M et al. Am Soc Clin Oncol Educ Book 2017; 37: 548–560.
  27. Bolen J et al. Blood 2017; 130: 2729.
  28. Grzegorz S et al. Blood 2007; 110: 2067.
  29. Rossi D et al. Clin Cancer Res 2009; 15: 995–1004.
  30. Zenz T et al. J Clin Oncol 2010; 28: 4473–4479.
  31. Woyach JA et al. J Clin Oncol 2017; 35: 1437–1443.
  32. VITRAKVI® (larotrectinib) Prescribing Information. Available at: https://www.loxooncology.com/docs/general/vitrakvi.pdf (Accessed August 2020).
  33. Vaishnavi A et al. Cancer Discov 2015; 5: 25–34.
  34. GLEEVEC® (imatinib mesylate) Prescribing Information. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/label/2008/021588s024lbl.pdf (Accessed August 2020).
  35. Tarlock K et al. Oncotarget 2018; 9: 26417–26430.
  36. Severson EA et al. Oncologist 2019; 24: 372–374.
  37. Chmielecki J et al. Cancer Res 2017; 77: 509–519.
  38. Pavlick D et al. Pediatr Blood Cancer 2017; 64: e26433.
  39. FoundationOne®Heme Specimen Instructions, 2018. Available at: https://assets.ctfassets.net/vhribv12lmne/36S2Vq3BPqwaTLoww8gerj/78a3f27012a3b3ea9e3064561dc22a02/F1H_Specimen_Instructions.pdf (Accessed August 2020).