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Mayo Clinic Laboratories

Test Code HSCHP High Sensitivity Clonal Hematopoiesis Panel, Next-Generation Sequencing, Blood

Ordering Guidance

This test is not a prenatal screening test. For prenatal screening, consider QUAD1 / Quad Screen (Second Trimester) Maternal, Serum.

Multiple oncology (cancer) gene panels are available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide.

Specimen Required

Patient Preparation: A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Whole blood collected postnatal from an umbilical cord is also acceptable. See Additional Information

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days

Additional Information:

1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

2. To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.

3. For postnatal umbilical cord whole blood specimens, maternal cell contamination studies are recommended to ensure test results reflect that of the patient tested. A maternal blood specimen is required to complete maternal cell contamination studies. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on both the cord blood and maternal blood specimens under separate order numbers.

Secondary ID

623137

Useful For

Evaluating clonal hematopoiesis (CH) prior to initiation of genotoxic therapy

Monitoring clonal evolution and the emergence of clinically relevant clones throughout the course of genotoxic treatment

Distinguishing tumor driver mutations from CH-associated variants

Genetics Test Information

This test utilizes a highly sensitive next-generation sequencing to detect single nucleotide variants (SNVs) and small deletion-insertions (delins) in 37 genes associated with clonal hematopoiesis (CH). This panel identifies variants in: ASXL1, ATM, BARD1, BCOR, BCORL1, BRAF, BRCA1, BRCA2, BRIP1, CBL, CHEK2, DNMT3A, EZH2, GATA2, IDH1, IDH2, JAK2, KRAS, NRAS, PALB2, PHF6, PPM1D, PTPN11, RAD21, RAD51C, RAD51D, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, ZRSR2. See Targeted Genes and Methodology Details for High Sensitivity Clonal Hematopoiesis Panel for details regarding the targeted gene regions evaluated by this test.

Method Name

Targeted Next-Generation Sequencing (NGS)

Reporting Name

HS Clonal Hematopoiesis Panel

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type	Temperature	Time
Varies	Ambient (preferred)
	Frozen
	Refrigerated

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Clonal hematopoiesis (CH) is an age-related condition in which certain hematopoietic stem cells acquire genetic changes that allow them to proliferate and expand. Clonal hematopoiesis of indeterminate potential (CHIP) is defined by somatic variants with a variant allele fraction (VAF) greater than 2% in the absence of hematologic malignancy. CHIP is associated with increased inflammation and an elevated risk of developing myeloid neoplasms (MNs). CH can also occur after exposure to chemotherapy or radiation. When this happens, it is referred to as therapy-induced CH (t-CH) or context-relevant CH (CR-CH). CR-CH can affect how patients with solid tumors respond to treatment and can influence overall outcomes.(1-3) Chemotherapy and radiation can drive the growth of existing or newly developed t-CH and increase the risk of therapy-related myeloid neoplasms.(4-6)

This test analyzes peripheral blood to detect somatic mutations that are known to be associated with CH. The results can help a patient's physician make more informed decisions about the use of chemotherapy, radiation or radionuclide therapies. It can also help guide personalized monitoring strategies to reduce therapy-related hematologic toxicities. This test reduces the risk of false-positive liquid biopsy results that could lead to unnecessary PARP inhibitor treatment, reported in up to 10% of prostate cancer cases.(7)

In addition to helping guide treatment and monitoring, identifying CH and/or CHIP related mutations can offer valuable prognostic information and inform clinical trials eligibility.

Reference Values

An interpretive report will be provided.

Interpretation

The interpretation of molecular biomarker analysis includes an overview of the results and the associated implications.

Cautions

Test results should be interpreted in the context of clinical laboratory data. If results obtained do not match other clinical or laboratory findings, contact the laboratory for discussion. Misinterpretation of results may occur if the information provided is inaccurate and/or incomplete.

This test may not differentiate between somatic and germline alterations.

This test does not detect large structural variants or copy number changes. This test does not reliably detect insertions larger than approximately 119 base pairs and deletions larger than approximately 129 base pairs

A negative (ie, wildtype) result does not rule out the presence of an alteration that may be present but below the limits of detection of this assay.

The presence or absence of a variant may not be predictive of response to therapy in all patients.

Supportive Data

Validation studies demonstrated a limit of detection of 0.25% variant allele frequency (VAF) for single nucleotide variants (SNVs) and deletion-insertions (delins), supported by a minimum deduplicated coverage depth of greater than or equal to 500× and a minimum DNA input of 40 ng. Variants with observed VAFs as low as 0.15% may be reported.

Analytical accuracy studies demonstrated 100% sensitivity for SNVs and 98.9% sensitivity for delins, with positive predictive value of 100% for SNVs and 99.0% for delins when compared with orthogonal next-generation sequencing methods and high-sensitivity confirmatory testing. Base-by-base sequencing accuracy assessed using well-characterized reference materials demonstrated greater than or equal to 99.99% accuracy.

Clinical Reference

1. Diplas BH, Ptashkin R, Chou JF, et al. Clinical importance of clonal hematopoiesis in metastatic gastrointestinal tract cancers. JAMA Netw Open. 2023;6(2):e2254221doi:10.1001/jamanetworkopen.2022.54221

2. Coombs CC, Zehir A, Devlin SM, et al. Therapy-related clonal hematopoiesis in patients with non-hematologic cancers is common and associated with adverse clinical outcomes. Cell Stem Cell. 2017;21(3):374-382.e4. doi:10.1016/j.stem.2017.07.010

3. Mayerhofer C, Sedrak MS, Hopkins JO, et al. Clonal hematopoiesis in older patients with breast cancer receiving chemotherapy. J Natl Cancer Inst. 2023;115(8):981-988. doi:10.1093/jnci/djad065

4. Morton LM, Dores GM, Schonfeld SJ, et al. Association of chemotherapy for solid tumors with development of therapy-related myelodysplastic syndrome or acute myeloid leukemia in the modern era. JAMA Oncol. 2019;5(3):318-325. doi:10.1001/jamaoncol.2018.5625

5. Hsu JI, Dayaram T, Tovy A, et al. PPM1D mutations drive clonal hematopoiesis in response to cytotoxic chemotherapy. Cell Stem Cell. 2018;23(5):700-713.e6. doi:10.1016/j.stem.2018.10.004

6. Kahn JD, Miller PG, Silver AJ, et al. PPM1D-truncating mutations confer resistance to chemotherapy and sensitivity to PPM1D inhibition in hematopoietic cells. Blood. 2018;132(11):1095-1105. doi:10.1182/blood-2018-05-850339

7. Jensen K, Konnick EQ, Schweizer MT, et al. Association of clonal hematopoiesis in dna repair genes with prostate cancer plasma cell-free dna testing interference. JAMA Oncol. 2021;7(1):107-110. doi:10.1001/jamaoncol.2020.5161

Method Description

The high sensitivity clonal hematopoiesis panel is a capture-based next-generation sequencing assay designed to detect single nucleotide variants (SNVs) and small deletions-insertions (delins) across defined regions in 37 genes associated with clonal hematopoiesis using whole blood-derived genomic DNA. The human genome reference GRCh37/hg19 build was used for sequence read alignment. Refer to the final patient report for gene transcript information referenced at the time of testing. Confirmation of selected reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

See Targeted Genes and Methodology Details for High Sensitivity Clonal Hematopoiesis Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)

Day(s) Performed