FoundationOne®Heme is a Comprehensive Genomic Profile for patients with haematological cancers or sarcomas.7
FoundationOne®Heme is a validated pan-cancer profile8, which
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
||Copy number alterations
||31 select introns profiled
No filter results
How accurate is FoundationOne®Heme?
FoundationOne®Heme is designed to detect clinically relevant genomic alterations in haematologic malignancies with high sensitivity and specificity:7
||INSERTIONS AND DELETIONS2,8
||COPY NUMBER ALTERATIONS(CNAs)2,8
(MAF ≥10%; 1-4obp)
deletions; or amplifications ≥8 copies)
(gene fusions; 10% tumour fraction)
||>90% (≥20% tumour nuclei)†4,9,43
No filter results
|Base substitutions² ⁸
||>99% (MAF ≥ 5%)
||>90%(≥20% tumour nuclei)†⁴⁻³³
|Insertions and deletions² ⁸
||>97% (MAF ≥ 10%; 1-4obp)
deletions or amplifications ≥ 8 copies)
No filter results
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).
Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting.
Blood. March 2016.
Patient-derived xenotransplants can recapitulate the genetic driver landscape of acute leukemias.
Leukemia. January 2017.
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?
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:
Forms & Downloads