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Comprehensive genomic profiling service for haematological malignancies and sarcomas; to guide diagnosis, prognosis and treatment selection and personalise patients' treatment plans.1- 3

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
FoundationOne Heme gene list FoundationOne Heme gene list
Learn more about comprehensive genomic profiling Learn more about comprehensive genomic profiling

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

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

FoundationOne Heme sample report FoundationOne Heme sample report

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 planning1,4,11,14–17,24Supports treatment selection• Identifies targeted therapies, immunotherapies and relevant clinical trials associated with your patient’s 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 stratification 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 patient’s 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<54050607080905–1516–2526–4041–5556–6566–75>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

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View FoundationOne Heme Technical Specifications View FoundationOne Heme Technical Specifications
View FoundationOne Heme Specimen Instructions View FoundationOne Heme Specimen Instructions
Any questions? Any questions?

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

†Peripheral blood and bone marrow aspirate must be received by the Foundation Medicine laboratory for optimal analysis as sensitivity of detection may degrade with time. Samples arriving later will result in a Qualified Report. FFPE block, FFPE blood clot or slides are also accepted. Reach out to the client services for more information.

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. Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting. Blood; 127: 3004–3014. 2016
  3. Gounder M et al. Impact of next-generation sequencing (NGS) on diagnostic and therapeutic options in soft-tissue and bone sarcoma. Presented at ASCO Annual Meeting, Chicago (Illinois), USA: Abstract #11001 and oral presentation. 2017
  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. Comprehensive Genomic Profiling (CGP) of Angioimmunoblastic T-Cell Lymphoma (AITL) to Prospectively Inform Diagnosis and Clinical Management. Blood; 126: 3898. 2015
  13. Kobos R et al. Comprehensive Genomic Profiling for Improved Diagnosis and Therapy of Pediatric Acute Leukemias. Presented at ASH Annual Meeting, San Diego (California), USA: Abstract 1605. 2016
  14. He J et al. Predictive and Prognostic Significance of Comprehensive Genomic Profiling in Patients with Diffuse Large B-Cell Lymphoma. Presented at ASH Annual Meeting, Orlando (Florida), USA: Abstract 2651. 2015
  15. Galanina N et al. Comprehensive Genomic Profiling Reveals Diverse but Actionable Molecular Portfolios across Hematologic Malignancies: Implications for Next Generation Clinical Trials. Cancers (Basel); 11.pii: E11. 2018
  16. Goodman AM et al. Next Generation Sequencing Reveals Potentially Actionable Alterations in the Majority of Patients with Lymphoid Malignancies. JCO Precis Oncol. doi: 10.1200/PO.16.00004. 2017
  17. Heuck C et al. Comprehensive Genomic Profiling of Multiple Myeloma in the Course of Clinical Care Identifies Targetable and Prognostically Significant Genomic Alterations. Blood; 126: 369. 2015
  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. Clinical genomic profiling to identify actionable alterations for investigational therapies in patients with diverse sarcomas. Oncotarget; 8: 39254–39267. 2017
  20. Doyle LA et al. Sarcoma classification: an update based on the 2013 World Health Organization Classification of Tumors of Soft Tissue and Bone. Cancer; 120: 1763–1774. 2014
  21. Cote GM et al. Next‐Generation Sequencing for Patients with Sarcoma: A Single Center Experience. Oncologist; 23: 234–242. 2018
  22. Chmielecki J et al. Genomic Profiling of a Large Set of Diverse Pediatric Cancers Identifies Known and Novel Mutations across Tumor Spectra. Cancer Res; 77: 509–519. 2017
  23. Data on file: FoundationOne®Heme Sample Report. 2018.
  24. Chavan SS et al. Bi-allelic inactivation is more prevalent at relapse in multiple myeloma, identifying RB1 as an independent prognostic marker. Blood Cancer J; 7: e535. 2017
  25. Severson EA et al. Comprehensive Genomic Profiling Identifies Genomic Alterations That Define Philadelphia-like B-Acute Lymphoblastic Leukemia. Presented at ASH Annual Meeting, Atlanta (Georgia), USA: Abstract 476. 2017
  26. Bustoros M et al. Established and Novel Prognostic Biomarkers in Multiple Myeloma. Am Soc Clin Oncol Educ Book; 37: 548–560. 2017
  27. Bolen J et al. Systematic Analysis of the Prognostic Impact of Somatic Mutations in Diffuse Large B-Cell Lymphoma (DLBCL) with Evaluation of Cell-of-Origin Dependence: Results from the Phase 3 GOYA Trial in Previously Untreated DLBCL. Blood; 130: 2729. 2017
  28. Grzegorz S et al. Presence of Immunoglobulin Heavy Chain Gene (IGH) Translocations in Chronic Lymphocytic Leukemia Is Related to Poor Prognosis. Blood; 110: 2067. 2007
  29. Rossi D et al. The prognostic value of TP53 mutations in chronic lymphocytic leukemia is independent of Del17p13: implications for overall survival and chemorefractoriness. Clin Cancer Res; 15: 995–1004. 2009
  30. Zenz T et al. TP53 mutation and survival in chronic lymphocytic leukemia. J Clin Oncol; 28: 4473–4479. 2010
  31. Woyach JA et al. BTK C481S-Mediated Resistance to Ibrutinib in Chronic Lymphocytic Leukemia. J Clin Oncol; 35: 1437–1443. 2017
  32. VITRAKVI® (larotrectinib) Prescribing Information. Available at: https://www.loxooncology.com/docs/general/vitrakvi.pdf (Accessed August 2020).
  33. Vaishnavi A et al. TRKing down an old oncogene in a new era of targeted therapy. Cancer Discov; 5: 25–34. 2015
  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. Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling. Oncotarget; 9: 26417–26430. 2018
  36. Severson EA et al. Genomic Landscape of Adult and Pediatric BCR-ABL1-Like B-Lymphoblastic Leukemia Using Parallel DNA and RNA Sequencing. Oncologist; 24: 372–374. 2019
  37. Chmielecki J et al. Genomic Profiling of a Large Set of Diverse Pediatric Cancers Identifies Known and Novel Mutations across Tumor Spectra. Cancer Res; 77: 509–519. 2017
  38. Pavlick D et al. Identification of NTRK fusions in pediatric mesenchymal tumors. Pediatr Blood Cancer; 64: e26433. 2017
  39. FoundationOne®Heme Specimen Instructions, 2018. Available at: https://assets.ctfassets.net/vhribv12lmne/36S2Vq3BPqwaTLoww8gerj/78a3f27012a3b3ea9e3064561dc22a02/F1H_Specimen_Instructions.pdf (Accessed August 2020).