SOPHiA DDM™ for Lymphoid Malignancies

The proven path to characterize lymphoid neoplasms

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Lymphoid neoplasms encompassing lymphomas and some leukemia like Chronic Lymphocytic Leukaemia (CLL) are the most common type of blood cancer 1.

With increasing evidence for the stratification of tumor types with distinct clinical and biological features according to biomarkers, and the progress in targeted therapy, tailored NGS-based workflows empower experts to get high-quality and reproducible data to accelerate their studies.

Expertly designed gene panel, customizable to meet your laboratory’s specific research needs

Detection of challenging variants including SNVs, Indels, CNVs and Immunoglobulin (IGH) rearrangements​

Tailored probes to maximize on-target rate and coverage uniformity, for a cost-effective multiplexing and sequencing 

Ready-to-use target-enriched library in just 2 days

Data analysis from FASTQ files in as little as 4 hours

Streamlined workflow, from sample to report, to accelerate your analysis

Easy variant visualization, classification and annotation within the SOPHiA DDM™ Platform

Tertiary analysis based on the latest scientific evidence on the relevant variants with OncoPortal™Plus​

Access to SOPHiA GENETICS Community, one of the largest networks of connected healthcare institutions, to gain and share scientific knowledge​

Accurately characterize lymphoid malignancies

Lymphoid neoplasms originate from hematopoietic disruptions in the lymphoid lineage due to complex mutations. Improvements in sequencing technics and the development of targeted therapies call for a refined classification according to genetic alterations2. Therefore, advances in cancer study depend on timely, cost-effective, and reliable high-throughput sequencing strategies.

Lymphomas
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Lymphomas are sorted according to cell types and morphology such as the Reed-Sternberg cells defining Hodgkin Lymphomas. Along with immunophenotypic biomarkers, genetic alterations in MYC, BCL2, BCL6, TP53 and 11q (containing ATM) are used to stratify tumor types2.
Acute lymphocytic leukemia (ALL)
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Chromosomal rearrangements such as the BCR::ABL1 (Philadelphia chromosome ) or ETV6::RUNX1 are hallmarks of ALL. Recurrent fusions involving kinase genes such as ABL1, ABL2, PDGFRB, CSF1R, CRLF2, JAK2, and EPOR are also observed3.

Chronic lymphocytic leukemia (CLL)
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Testing for TP53 mutational status and IGH rearrangements is widely recommended for CLL study4,5. Other associated genetic alterations include Del13q14 (containing DLEU1 and RB1), Del11q (ATM and BIRC3), Del17p (TP53), trisomy 12 (KRAS, CDK4, and ATF1) and variants in NOTCH1, POT1, NFKBIE, MYD88, and XPO16.

Get the whole Immunoglobulin picture

Mature B cells express a unique immunoglobulin gene heavy chain (IGH) rearrangement of the V(D)J region. The clonotype as well as the mutational status of IGH are critical biomarkers for tumor stratification. Our optimized probes capture this challenging region in one assay and allow for further characterizations following international recommendations5.

Confidently assess challenging biomarkers

Molecular profiling by NGS has introduced a paradigm shift in investigating the pathogenic variants causing different lymphoid malignancies. Indeed, it allows the characterization of multiple SNVs, Indels, and CNVs in one unique experiment. With an optimized probe design and the advanced analytical capabilities of the SOPHiA DDM™️ Platform, challenging variants in GC-rich and complex regions such as EGR2, NFKBI and IGH locus are covered.

Choose the solution that fits your needs

Our portfolio offers a range of ready-to-use yet customizable solutions that enable precise characterization of lymphoid malignancies driver genes by targeting key variants from FFPE, blood or bone marrow samples.

SOPHiA DDM™️ Lymphoma Solution

SOPHiA DDM™️ Lymphoma Solution is a comprehensive application that covers 54 genes associated with B- and T-cell lymphomas such as diffuse large B-cell, follicular, mantle cell and Burkitt lymphoma.

SOPHiA DDM™️ Community CLL Clonality Solution

SOPHiA DDM™️ Community CLL Clonality Solution is an expertly designed panel to specifically target 23 relevant genes for CLL, including the guidelines recommended biomarkers TP53 mutational status and IGH rearrangements.

SOPHiA GENETICS™ Community Panels for Blood Cancers

SOPHiA GENETICS™ Community Panels for Blood Cancers are targeted panels developed and tested by genomic experts in hematological malignancies to minimize set-up challenges and accelerate your workflow.

It is a great satisfaction to see how thanks to the partnership with SOPHiA GENETICS and Diagnóstica Longwood we will be able to transfer into clinical practice the relevant information generated for so many years in the research of CLL using a simple and robust assay.

Elias Campo, MD, PhD
Principal investigator and director of IDIBAPS and FCRB, Spain

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Specifications

Parameters SOPHiA DDM™ Lymphoma Solution (LYS) SOPHiA DDM™ Community CLL Clonality Solution
Associated disorders B- and T-cell lymphomas such as diffuse large B-cell, follicular, mantle cell, and Burkitt lymphomas Chronic Lymphocyte Leukaemia
Genes 54 genes: ARID1A, ATM, B2M, BCL2, BCL6, BIRC, BRAF, BTK, CARD11, CCND1, CCND3, CD58, CD79A, CD79B, CDKN2A, CDKN2B, CHD2, CIITA, CREBBP, CXCR4, EP300, EZH2, FBXW7, FOXO1, GNA13, ID3, IRF4, KMT2A, KMT2D, KRAS, MAL, MEF2B, MYC, MYD88, NFKBIE, NOTCH1, NOTCH2, NRAS), PAX5, PIM1, PLCG2, POT1, PRDM1, PTEN, PTPN11, REL, SF3B1, SOCS1, STAT6, TCF3, TNFAIP3, TNFRSF14, TP53, XPO1 23 genes: ATF1, ATM, BCL2, BIRC3, BTK, CDK4, CUL4A, CXCR4, DLEU1, EGR2, FBXW7, KLF5, KRAS, MYD88, NFKBIE, NOTCH1, PLCG2, POT1, PROZ, RB1, SF3B1, TP53, XPO1 + IGH rearrangement
Target Region Size 118 Kb 48 Kb
Key Biomarkers CREBBP, EP300, EZH2, MEF2B, MYD88, MYC, BRAF IGH rearrangement, TP53, BTK, BCL2, NOTCH1
Sample Type FFPE, blood, and bone marrow Blood and bone marrow
Starting material 50 ng DNA 200 ng DNA
Sequencer Compatibility

Illumina MiSeq® and NextSeq®

Illumina MiSeq®, NextSeq® and MiniSeq™️

Library Preparation Time 1.5 days 1.5 days
Analysis Time From FASTQ 4 hours 4 hours
Detected Variants
  • SNVs
  • Indels
  • Gene amplifications (47 genes)
  • SNVs
  • Indels
  • CNVs
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Get in touch with us.

Our client services team is on hand to help.

References

  1. Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209–49. http://dx.doi.org/10.3322/caac.21660
  2. Alaggio R, Amador C, Anagnostopoulos I, Attygalle AD, Araujo IB de O, Berti E, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid neoplasms. Leukemia. 2022;36(7):1720–48. http://dx.doi.org/10.1038/s41375-022-01620-2
  3. Moorman AV. New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia. Haematologica. 2016;101(4):407–16. http://dx.doi.org/10.3324/haematol.2015.141101
  4. Eichhorst B, Robak T, Montserrat E, Ghia P, Niemann CU, Kater AP, et al. Chronic lymphocytic leukaemia: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021;32(1):23–33. http://dx.doi.org/10.1016/j.annonc.2020.09.019
  5. Agathangelidis A, Chatzidimitriou A, Chatzikonstantinou T, Tresoldi C, Davis Z, Giudicelli V, et al. Immunoglobulin gene sequence analysis in chronic lymphocytic leukemia: the 2022 update of the recommendations by ERIC, the European Research Initiative on CLL. Leukemia. 2022;36(8):1961–8. http://dx.doi.org/10.1038/s41375-022-01604-2
  6. Bosch F, Dalla-Favera R. Chronic lymphocytic leukaemia: from genetics to treatment. Nat Rev Clin Oncol. 2019;16(11):684–701. http://dx.doi.org/10.1038/s41571-019-0239-8
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