FoundationOne®Heme is a validated pan-cancer profile8, which utilises hybrid capture-based next-generation sequencing technology to detect all four classes of genomic alterations in 406 cancer-related genes relevant to haematological cancers (leukaemias, lymphomas, and myeloma) and sarcomas, as well as selected introns from 31 genes involved in rearrangements.

FoundationOne®Heme also interrogates RNA sequencing across 265 genes to capture gene fusions (including de novo and rare gene fusions).7

All FoundationOne®Heme samples are simultaneously profiled for tumour mutation burden (TMB) status.7

Comprehensive Genomic Profiling

             
             
406 genes interrogated
  Insertions & deletions
Base substitutions
Copy number alterations
Rearrangements
31 select introns profiled

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    315 genes interrogated
     
    Insertions & deletions
    Base substitutions
    Copy number alterations
    Rearrangements
  28 select introns profiled

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How accurate is FoundationOne®Heme?

FoundationOne®Heme is designed to detect clinically relevant genomic alterations in haematologic malignancies with high sensitivity and specificity:7

TECHNICAL INFORMATION
BASE SUBSTITUTIONS2,8
INSERTIONS AND DELETIONS2,8
COPY NUMBER ALTERATIONS(CNAs)2,8
REARRANGEMENTS8
Sensitivity

>99%* 

(MAF ≥5%)

97%*

(MAF ≥10%; 1-4obp)

>97%* (homozygous  

deletions; or amplifications ≥8 copies)

>98% 

(gene fusions; 10% tumour fraction) 

Specificity (PPV)
>99%*
>99%*
>99%*
>98%
Concordance TMB
>90% (≥20% tumour nuclei)4,9,43

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Technical information
Sensitivity
Specificity (PPV)
Concordance TMB:
Base substitutions² ⁸
>99% (MAF ≥ 5%)
>99%
>90%(≥20% tumour nuclei)†⁴⁻³³
Insertions and deletions² ⁸
>97% (MAF ≥ 10%; 1-4obp)
>99%

Copy number

alterations(CNAₛ)² ⁸

>97%* (homozygus  

deletions or amplifications ≥ 8 copies)

>99%

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MAF: mutant allele frequency; PPV: positive predictive value; TMB: tumour mutation burden; WES: whole exome sequencing. 

*Substitution, indels, and CNAs were validated by reanalysing 47 samples previously profiled with FoundationOne®, in which 169 alterations were identified in 55 genes common to both FoundationOne® and FoundationOne®Heme assays (102 substitutions, 59 indels, and 8 CNAs; 10 low-frequency subclonal variants were excluded from the analysis). The concordance between the 2 sets of results was 99.4% (168/169).

Based on concordance between FoundationOne® CGP and WES analysis data (26/29).

FoundationOne®Heme publications

Validation

Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting.

Blood. March 2016.

Selected publication

Patient-derived xenotransplants can recapitulate the genetic driver landscape of acute leukemias.

Leukemia. January 2017.

FoundationOne®Heme FAQs

  • Does the FoundationOne®Heme CGP assay apply to all types of cancer?

    FoundationOne®Heme can help deliver meaningful molecular insights across a range of haematological cancers and sarcomas, including, but not limited to: Leukaemia, Myelodysplastic Syndrome, Myeloproliferative Neoplasm, Acute Myeloid Leukaemia, Acute Lymphoblastic Leukaemia, and Sarcomas.7

  • Who is eligible for a FoundationOne®HEME profile?

    Any patient with a haematological cancer or sarcoma is eligible to be profiled with FoundationOne®Heme.

  • How can FoundationOne®HEME make a difference in clinical practice?

    FoundationOne®Heme can help to maximise the chance of finding clinically actionable genomic alterations in clinical practice, potentially expanding treatment options for patients.8

     

    In a study of 3,696 haematologic cancer specimens submitted for profiling with FoundationOne®Heme, 95% were identified as having at least one driver alteration (n=3,246/3,433).8 This outcome resulted in 77% of patients identified with at least one genomic alteration linked to a commercially available targeted therapy or one in clinical development (n=2,650/3,433).8 In addition, 61% of cases were found to harbour one or more genomic alterations with known prognostic relevance in that tumour type.8

  • What is Tumour Mutation Burden (TMB) and why is it useful?

    In addition to genomic targets, other biomarkers such as TMB can help us to understand more about tumour profiles.4,10,16-18

     

    TMB is defined as the total number of somatic mutations per coding area of a tumour genome.4 High TMB levels may help to predict response to cancer immunotherapies.4,10,16-18

How to order a FoundationOne®Heme profile

Patients with haematologic cancers or sarcomas can be profiled with FoundationOne®Heme, which is performed on FFPE or bone marrow aspirate specimens.

The average turn-around time for a FoundationOne®Heme profile is 21 days from the date Foundation Medicine, Inc. laboratory in Boston receives the tissue sample.

When submitting specimens to Foundation Medicine, please include the following items in the FoundationOne®Heme Specimen Kit:

Appropriate specimen per the FoundationOne®Heme Specimen Guidelines

Completed Requisition Form

Copy of recent pathology/cytology reports

We have even more to offer - learn about our other profiles: