Clinical insights into hematologic malignancies and comparative analysis of molecular signatures of acute myeloid leukemia in different ethnicities using an artificial intelligence offering.

Autor:	Snowdon JL; IBM Watson Health, Cambridge, MA, USA., Weeraratne D; IBM Watson Health, Cambridge, MA, USA., Huang H; IBM Watson Health, Cambridge, MA, USA., Brotman D; IBM Watson Health, Cambridge, MA, USA., Xue S; IBM Watson Health, Cambridge, MA, USA., Willis VC; IBM Watson Health, Cambridge, MA, USA., Lee YK; Department of Laboratory Medicine, Hallym University Sacred Heart Hospital, Anyang, Republic of Korea., Jeon K; Department of Laboratory Medicine, Hallym University Hangang Sacred Heart Hospital, Seoul, Republic of Korea., Zang DY; Department of Internal Medicine, Hallym University Sacred Heart Hospital, Anyang, Republic of Korea., Kim HJ; Department of Internal Medicine, Hallym University Sacred Heart Hospital, Anyang, Republic of Korea., Kim HY; Department of Internal Medicine, Hallym University Sacred Heart Hospital, Anyang, Republic of Korea., Han B; Department of Internal Medicine, Hallym University Sacred Heart Hospital, Anyang, Republic of Korea., Kim M; Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Jazyk:	angličtina
Zdroj:	Medicine [Medicine (Baltimore)] 2021 Dec 23; Vol. 100 (51), pp. e27969.
DOI:	10.1097/MD.0000000000027969
Abstrakt:	Abstract: Next generation sequencing generates copious amounts of genomics data, causing manual interpretation to be laborious and non-scalable while remaining subjective (even for highly trained specialists). We evaluated the performance of the artificial intelligence-based offering Watson for Genomics (WfG), a variant interpretation platform, in hematologic malignancies for the first time.Next generation sequencing was performed for patients treated for various hematological malignancies at Hallym University Sacred Heart Hospital, South Korea, between December 2017 and August 2020 using a 54-gene panel. Both WfG and expert manual curation were used to evaluate the performance of WfG. Acute myeloid leukemia (AML) molecular profiles were compared between Koreans and other ethnic groups using a publicly available dataset.Seventy-seven patients were analyzed (AML: 45, myeloproliferative neoplasms: 12, multiple myeloma: 7, myelodysplastic syndromes: 6, and others: 7). The concordance between the manual and WfG interpretations of 35 variants in 11 random patients was 94%. Among all patients, WfG identified 39 (51%) with at least 1 clinically actionable therapeutic alteration (i.e., a variant targeted by a United States Food and Drug Administration [US FDA]-approved drug, off-label drug, or clinical trial). Moreover, 46% of these patients (18/39) had genes that were targeted by a US FDA-approved therapy. WfG identified diagnostic or prognostic insights in 65% of the patients with no targetable alterations. In those with AML, FLT3-internal tandem duplications or tyrosine kinase domain mutations were less frequent among Koreans than among Caucasians (6.7% vs 30.2%, P < .001) or Hispanics (6.7% vs 28.3%, P = .005), suggesting ethnic differences.Variant interpretation using WfG correlated well with manually curated expert opinions. WfG provided therapeutic insights (including variant-specific drugs and clinical trials that cannot easily be provided by expert manual curation), as well as diagnostic and/or prognostic information. Competing Interests: The authors have no funding and conflicts of interest to disclose. (Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu