The relative utilities of genome-wide, gene panel, and individual gene sequencing in clinical practice

被引：47

作者：

Kuo, Frank C. ^{[1
,2
,3
]}

Mar, Brenton G. ^{[2
,4
,5
]}

Lindsley, R. Coleman ^{[6
,7
]}

Lindeman, Neal I. ^{[1
,2
,3
]}

机构：

[1] Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA

[2] Dana Farber Canc Inst, Boston, MA 02115 USA

[3] Harvard Med Sch, Dept Pathol, Boston, MA USA

[4] Boston Childrens Hosp, Dept Pediat Oncol, Boston, MA USA

[5] Harvard Med Sch, Dept Pediat, Boston, MA USA

[6] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[7] Harvard Med Sch, Dept Med, Boston, MA USA

来源：

BLOOD | 2017年 / 130卷 / 04期

关键词：

INTERNAL TANDEM DUPLICATION; ACUTE MYELOID-LEUKEMIA; MINIMAL RESIDUAL DISEASE; IDENTIFIES RECURRENT MUTATIONS; SOMATIC MUTATIONS; RETROSPECTIVE ANALYSIS; CLONAL HEMATOPOIESIS; IKZF1; DELETION; IMPACT; RISK;

D O I：

10.1182/blood-2017-03-734533

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Advances in technology that have transpired over the past 2 decades have enabled the analysis of cancer samples for genomic alterations to understand their biologic function and to translate that knowledge into clinical practice. With the power to analyze entire genomes in a clinically relevant time frame and with manageable costs comes the question of whether we ought to and when. This review focuses on the relative merits of 3 approaches to molecular diagnostics in hematologic malignancies: indication-specific single gene assays, gene panel assays that test for genes selected for their roles in cancer, and genome-wide assays that broadly analyze the tumor exomes or genomes. After addressing these in general terms, we review specific use cases in myeloid and lymphoid malignancies to highlight the utility of single gene testing and/or larger panels.

引用

页码：433 / 439

页数：7

共 85 条

[1] The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia [J].

Arber, Daniel A. ;

Orazi, Attilio ;

Hasserjian, Robert ;

Thiele, Jurgen ;

Borowitz, Michael J. ;

Le Beau, Michelle M. ;

Bloomfield, Clara D. ;

Cazzola, Mario ;

Vardiman, James W. .

BLOOD, 2016, 127 (20) :2391-2405

[2] KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis [J].

Arock, M. ;

Sotlar, K. ;

Akin, C. ;

Broesby-Olsen, S. ;

Hoermann, G. ;

Escribano, L. ;

Kristensen, T. K. ;

Kluin-Nelemans, H. C. ;

Hermine, O. ;

Dubreuil, P. ;

Sperr, W. R. ;

Hartmann, K. ;

Gotlib, J. ;

Cross, N. C. P. ;

Haferlach, T. ;

Garcia-Montero, A. ;

Orfao, A. ;

Schwaab, J. ;

Triggiani, M. ;

Horny, H-P ;

Metcalfe, D. D. ;

Reiter, A. ;

Valent, P. .

LEUKEMIA, 2015, 29 (06) :1223-1232

[3] Recurrent BRAF mutations in Langerhans cell histiocytosis [J].

Badalian-Very, Gayane ;

Vergilio, Jo-Anne ;

Degar, Barbara A. ;

MacConaill, Laura E. ;

Brandner, Barbara ;

Calicchio, Monica L. ;

Kuo, Frank C. ;

Ligon, Azra H. ;

Stevenson, Kristen E. ;

Kehoe, Sarah M. ;

Garraway, Levi A. ;

Hahn, William C. ;

Meyerson, Matthew ;

Fleming, Mark D. ;

Rollins, Barrett J. .

BLOOD, 2010, 116 (11) :1919-1923

[4] A Clinical Grade Sequencing-Based Assay for CEBPA Mutation Testing Report of a Large Series of Myeloid Neoplasms [J].

Behdad, Amir ;

Weigelin, Helmut C. ;

Elenitoba-Johnson, Kojo S. J. ;

Betz, Bryan L. .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2015, 17 (01) :76-84

[5] Somatic Mutations Predict Poor Outcome in Patients With Myelodysplastic Syndrome After Hematopoietic Stem-Cell Transplantation [J].

Bejar, Rafael ;

Stevenson, Kristen E. ;

Caughey, Bennett ;

Lindsley, R. Coleman ;

Mar, Brenton G. ;

Stojanov, Petar ;

Getz, Gad ;

Steensma, David P. ;

Ritz, Jerome ;

Soiffer, Robert ;

Antin, Joseph H. ;

Alyea, Edwin ;

Armand, Philippe ;

Ho, Vincent ;

Koreth, John ;

Neuberg, Donna ;

Cutler, Corey S. ;

Ebert, Benjamin L. .

JOURNAL OF CLINICAL ONCOLOGY, 2014, 32 (25) :2691-+

[6] Validation of a Prognostic Model and the Impact of Mutations in Patients With Lower-Risk Myelodysplastic Syndromes [J].

Bejar, Rafael ;

Stevenson, Kristen E. ;

Caughey, Bennett A. ;

Abdel-Wahab, Omar ;

Steensma, David P. ;

Galili, Naomi ;

Raza, Azra ;

Kantarjian, Hagop ;

Levine, Ross L. ;

Neuberg, Donna ;

Garcia-Manero, Guillermo ;

Ebert, Benjamin L. .

JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (27) :3376-3382

[7] Clinical Effect of Point Mutations in Myelodysplastic Syndromes [J].

Bejar, Rafael ;

Stevenson, Kristen ;

Abdel-Wahab, Omar ;

Galili, Naomi ;

Nilsson, Bjoern ;

Garcia-Manero, Guillermo ;

Kantarjian, Hagop ;

Raza, Azra ;

Levine, Ross L. ;

Neuberg, Donna ;

Ebert, Benjamin L. .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (26) :2496-2506

[8] Accurate whole human genome sequencing using reversible terminator chemistry [J].

Bentley, David R. ;

Balasubramanian, Shankar ;

Swerdlow, Harold P. ;

Smith, Geoffrey P. ;

Milton, John ;

Brown, Clive G. ;

Hall, Kevin P. ;

Evers, Dirk J. ;

Barnes, Colin L. ;

Bignell, Helen R. ;

Boutell, Jonathan M. ;

Bryant, Jason ;

Carter, Richard J. ;

Cheetham, R. Keira ;

Cox, Anthony J. ;

Ellis, Darren J. ;

Flatbush, Michael R. ;

Gormley, Niall A. ;

Humphray, Sean J. ;

Irving, Leslie J. ;

Karbelashvili, Mirian S. ;

Kirk, Scott M. ;

Li, Heng ;

Liu, Xiaohai ;

Maisinger, Klaus S. ;

Murray, Lisa J. ;

Obradovic, Bojan ;

Ost, Tobias ;

Parkinson, Michael L. ;

Pratt, Mark R. ;

Rasolonjatovo, Isabelle M. J. ;

Reed, Mark T. ;

Rigatti, Roberto ;

Rodighiero, Chiara ;

Ross, Mark T. ;

Sabot, Andrea ;

Sankar, Subramanian V. ;

Scally, Aylwyn ;

Schroth, Gary P. ;

Smith, Mark E. ;

Smith, Vincent P. ;

Spiridou, Anastassia ;

Torrance, Peta E. ;

Tzonev, Svilen S. ;

Vermaas, Eric H. ;

Walter, Klaudia ;

Wu, Xiaolin ;

Zhang, Lu ;

Alam, Mohammed D. ;

Anastasi, Carole .

NATURE, 2008, 456 (7218) :53-59

[9] Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias [J].

Care, RS ;

Valk, PJM ;

Goodeve, AC ;

Abu-Duhier, FM ;

Geertsma-Kleinekoort, WMC ;

Wilson, GA ;

Gari, MA ;

Peake, IR ;

Löwenberg, B ;

Reilly, JT .

BRITISH JOURNAL OF HAEMATOLOGY, 2003, 121 (05) :775-777

[10]

Cheng DT, 2014, J MOL DIAGN, V16

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