Next-generation sequencing for measurable residual disease detection in acute myeloid leukaemia

被引：45

作者：

Ghannam, Jack ^{[1
]}

Dillon, Laura W. ^{[1
]}

Hourigan, Christopher S. ^{[1
]}

机构：

[1] NHLBI, Lab Myeloid Malignancies, NIH, Bldg 10 CRC,Room 5-5130,10 Ctr Dr, Bethesda, MD 20892 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2020年 / 188卷 / 01期

基金：

美国国家卫生研究院;

关键词：

minimal residual disease; acute myeloid leukaemia; genetics; measurable residual disease; mutation detection; myeloid leukaemia; CLONAL HEMATOPOIESIS; DNMT3A MUTATIONS; RELAPSE; AML; GUIDELINES; DIAGNOSIS; FLT3-ITD; REVEALS; ASSAY;

D O I：

10.1111/bjh.16362

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Acute myeloid leukaemia (AML) is a blood cancer characterized by acquired genetic mutations. There is great interest in accurately establishing measurable residual disease (MRD) burden in AML patients in remission after treatment but at risk of relapse. However, inter- and intrapatient genetic diversity means that, unlike in the chronic myeloid and acute promyelocytic leukaemias, no single genetic abnormality is pathognomonic for all cases of AML MRD. Next-generation sequencing offers the opportunity to test broadly and deeply for potential genetic evidence of residual AML, and while not currently accepted for such use clinically, is likely to be increasingly used for AML MRD testing in the future.

引用

页码：77 / 85

页数：9

共 64 条

[1] Quantitation of next generation sequencing library preparation protocol efficiencies using droplet digital PCR assays - a systematic comparison of DNA library preparation kits for Illumina sequencing [J].

Aigrain, Louise ;

Gu, Yong ;

Quail, Michael A. .

BMC GENOMICS, 2016, 17

[2]

[Anonymous], HEM MAL REG CONS US

[3] Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms [J].

Au, Chun Hang ;

Wa, Anna ;

Ho, Dona N. ;

Chan, Tsun Leung ;

Ma, Edmond S. K. .

DIAGNOSTIC PATHOLOGY, 2016, 11

[4] Accurate Sample Assignment in a Multiplexed, Ultrasensitive, High-Throughput Sequencing Assay for Minimal Residual Disease [J].

Bartram, Jack ;

Mountjoy, Edward ;

Brooks, Tony ;

Hancock, Jeremy ;

Williamson, Helen ;

Wright, Gary ;

Moppett, John ;

Goulden, Nick ;

Hubank, Mike .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (04) :494-506

[5]

BISEL HF, 1956, BLOOD, V11, P676

[6] getITD for FLT3-ITD-based MRD monitoring in AML [J].

Blaette, Tamara J. ;

Schmalbrock, Laura K. ;

Skambraks, Sabrina ;

Lux, Susanne ;

Cocciardi, Sibylle ;

Dolnik, Anna ;

Doehner, Hartmut ;

Doehner, Konstanze ;

Bullinger, Lars .

LEUKEMIA, 2019, 33 (10) :2535-2539

[7] Minimal residual disease prior to allogeneic hematopoietic cell transplantation in acute myeloid leukemia: a meta-analysis [J].

Buckley, Sarah A. ;

Wood, Brent L. ;

Othus, Megan ;

Hourigan, Christopher S. ;

Ustun, Celalettin ;

Linden, Michael A. ;

DeFor, Todd E. ;

Malagola, Michele ;

Anthias, Chloe ;

Valkova, Veronika ;

Kanakry, Christopher G. ;

Gruhn, Bernd ;

Buccisano, Francesco ;

Devine, Beth ;

Walter, Roland B. .

HAEMATOLOGICA, 2017, 102 (05) :865-873

[8] Detection of Mutations in Myeloid Malignancies through Paired-Sample Analysis of Microdroplet-PCR Deep Sequencing Data [J].

Cheng, Donavan T. ;

Cheng, Janice ;

Mitchell, Talia N. ;

Syed, Aijazuddin ;

Zehir, Ahmet ;

Mensah, Nana Yaa T. ;

Oultache, Alifya ;

Nafa, Khedoudja ;

Levine, Ross L. ;

Arcila, Maria E. ;

Berger, Michael. F. ;

Hedvat, Cyrus V. .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (05) :504-518

[9] Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms [J].

Costello, Maura ;

Fleharty, Mark ;

Abreu, Justin ;

Farjoun, Yossi ;

Ferriera, Steven ;

Holmes, Laurie ;

Granger, Brian ;

Green, Lisa ;

Howd, Tom ;

Mason, Tamara ;

Vicente, Gina ;

Dasilva, Michael ;

Brodeur, Wendy ;

DeSmet, Timothy ;

Dodge, Sheila ;

Lennon, Niall J. ;

Gabriel, Stacey .

BMC GENOMICS, 2018, 19

[10] IDH1/2 but not DNMT3A mutations are suitable targets for minimal residual disease monitoring in acute myeloid leukemia patients: a study by the acute leukemia french association [J].

Debarri, Houria ;

Lebon, Delphine ;

Roumier, Christophe ;

Cheok, Meyling ;

Marceau-Renaut, Alice ;

Nibourel, Olivier ;

Geffroy, Sandrine ;

Helevaut, Nathalie ;

Rousselot, Philippe ;

Gruson, Berengere ;

Gardin, Claude ;

Chretien, Marie-Lorraine ;

Sebda, Sheherazade ;

Figeac, Martin ;

Berthon, Celine ;

Quesnel, Bruno ;

Boissel, Nicolas ;

Castaigne, Sylvie ;

Dombret, Herve ;

Renneville, Aline ;

Preudhomme, Claude .

ONCOTARGET, 2015, 6 (39) :42345-42353

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