2022
DOI: 10.21203/rs.3.rs-2094202/v1
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Enhanced clinical assessment of hematologic malignancies through routine paired tumor:normal sequencing

Abstract: Genomic profiling of hematologic malignancies has augmented our understanding of variants that contribute to disease pathogenesis and supported development of prognostic models that inform disease management in the clinic. Tumor only sequencing assays are limited in their ability to identify definitive somatic variants, which can lead to ambiguity in clinical reporting and patient management. Here, we describe the MSK-IMPACT Heme cohort, a comprehensive data set of somatic alterations from paired tumor and no… Show more

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Cited by 3 publications
(4 citation statements)
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“…The underlying cause of this difference warrants further investigation. One potential explanation is the higher levels of somatic mutation identified in solid tumors compared with hematological malignancies 26 . Another possibility could be the difference in targeted drug bioavailability within tumor tissue and tumor microenvironment.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…The underlying cause of this difference warrants further investigation. One potential explanation is the higher levels of somatic mutation identified in solid tumors compared with hematological malignancies 26 . Another possibility could be the difference in targeted drug bioavailability within tumor tissue and tumor microenvironment.…”
Section: Discussionmentioning
confidence: 99%
“…One potential explanation is the higher levels of somatic mutation identified in solid tumors compared with hematological malignancies. 26 Another possibility could be the difference in targeted drug bioavailability within tumor tissue and tumor microenvironment. Hematological cancers are immersed in circulating blood, while solid tumors are embedded deeper, and drugs may be less bioavailable to common targeted therapies delivered in circulation.…”
Section: Discussionmentioning
confidence: 99%
“…Targeted next‐generation sequencing utilizing a hybridization capture‐based platform (Memorial Sloan Kettering‐Integrated Mutation Profiling of Actionable Cancer Targets, or MSK‐IMPACT Heme [10]) detected 19 genetic aberrations. In particular, a novel translocation between chromosome 9 and 18 involving JAK2 exon 17 (on chromosome 9) and SMCHD1 exon 45 (on chromosome 18) was detected (t(9;18)(p24.1;p11.32)).…”
Section: Case Presentationmentioning
confidence: 99%
“…Patients with FL or DLBCL which was relapsed or refractory to two prior lines of treatment, good performance status, and adequate bone marrow and organ function were eligible for enrollment. Genetic testing was performed using any CLIA approved next-generation sequencing (NGS) platform, which was most commonly Foundation One Heme or MSK IMPACT based testing, with the latter utilizing normal tissue (nails or saliva) used as a germline comparison [ 16 , 17 ]. To be eligible, sequencing had to confirm the presence of CREBBP or EP300 mutation (deletion, frameshift, nonsense, or missense), known to affect the histone acetyltransferase function of CREBBP or EP300, based on previously published data and/or the COSMIC database [ 1 ].…”
mentioning
confidence: 99%