Updates in molecular genetics of acute myeloid leukemia

被引：9

作者：

Kurzer, Jason H. ^{[1
,3
]}

Weinberg, Olga K. ^{[2
]}

机构：

[1] Stanford Univ, Dept Pathol, Med Sch, Palo Alto, CA USA

[2] UT Southwestern Med Ctr, Dept Pathol, Dallas, TX USA

[3] Stanford Univ, Dept Pathol, Med Sch, 300 Pasteur Dr Rm L235, Stanford, CA 94305 USA

来源：

SEMINARS IN DIAGNOSTIC PATHOLOGY | 2023年 / 40卷 / 03期

关键词：

WORLD-HEALTH-ORGANIZATION; SINGLE CEBPA MUTATIONS; DE-NOVO; MONOSOMAL KARYOTYPE; NPM1; MUTATIONS; PROGNOSTIC RELEVANCE; MYELODYSPLASTIC SYNDROME; NUCLEOPHOSMIN MUTATIONS; BIOLOGICAL IMPLICATIONS; MULTILINEAGE DYSPLASIA;

D O I：

10.1053/j.semdp.2023.04.002

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Acute myeloid leukemia (AML) is a type of cancer caused by aggressive neoplastic proliferations of immature myeloid cells that is fatal if untreated. AML accounts for 1.0% of all new cancer cases in the United States, with a 5-year relative survival rate of 30.5%. Once defined primarily morphologically, advances in next gener-ational sequencing have expanded the role of molecular genetics in categorizing the disease. As such, both the World Health Organization Classification of Hae-matopoietic Neoplasms and The International Consensus Classification System now define a variety of AML subsets based on mutations in driver genes such as NPM1, CEBPA, TP53, ASXL1, BCOR, EZH2, RUNX1, SF3B1, SRSF2, STAG2, U2AF1, and ZRSR2. This article provides an overview of some of the genetic mutations associated with AML and compares how the new classification systems incorporate molecular genetics into the definition of AML.

引用

页码：140 / 151

页数：12

共 112 条

[1] NPM1 mutant variant allele frequency correlates with leukemia burden but does not provide prognostic information in NPM1-mutated acute myeloid leukemia [J].

Abbas, Hussein A. ;

Ravandi, Farhad ;

Loghavi, Sanam ;

Patel, Keyur P. ;

Borthakur, Gautam ;

Kadia, Tapan M. ;

Jabbour, Elias ;

Takahashi, Koichi ;

Cortes, Jorge ;

Issa, Ghayas C. ;

Konopleva, Marina ;

Kantarjian, Hagop M. ;

Short, Nicholas J. .

AMERICAN JOURNAL OF HEMATOLOGY, 2019, 94 (06) :E158-E160

[2] Prediction of acute myeloid leukaemia risk in healthy individuals [J].

Abelson, Sagi ;

Collord, Grace ;

Ng, Stanley W. K. ;

Weissbrod, Omer ;

Cohen, Netta Mendelson ;

Niemeyer, Elisabeth ;

Barda, Noam ;

Zuzarte, Philip C. ;

Heisler, Lawrence ;

Sundaravadanam, Yogi ;

Luben, Robert ;

Hayat, Shabina ;

Wang, Ting Ting ;

Zhao, Zhen ;

Cirlan, Julia ;

Pugh, Trevor J. ;

Soave, David ;

Ng, Karen ;

Latimer, Calli ;

Hardy, Claire ;

Raine, Keiran ;

Jones, David ;

Hoult, Diana ;

Britten, Abigail ;

McPherson, John D. ;

Johansson, Mattias ;

Mbabaali, Faridah ;

Eagles, Jenna ;

Millers, Jessica K. ;

Pasternack, Danielle ;

Timms, Lee ;

Krzyzanowski, Paul ;

Awadalla, Philip ;

Costa, Rui ;

Segal, Eran ;

Bratman, Scott, V ;

Beer, Philip ;

Behjati, Sam ;

Martincorena, Inigo ;

Wang, Jean C. Y. ;

Bowles, Kristian M. ;

Ramon Quiros, J. ;

Karakatsani, Anna ;

La Vecchia, Carlo ;

Trichopoulou, Antonia ;

Salamanca-Fernandez, Elena ;

Huerta, Jose M. ;

Barricarte, Aurelio ;

Travis, Ruth C. ;

Tumino, Rosario .

NATURE, 2018, 559 (7714) :400-+

[3] International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data [J].

Arber, Daniel A. ;

Orazi, Attilio ;

Hasserjian, Robert P. ;

Borowitz, Michael J. ;

Calvo, Katherine R. ;

Kvasnicka, Hans-Michael ;

Wang, Sa A. ;

Bagg, Adam ;

Barbui, Tiziano ;

Branford, Susan ;

Bueso-Ramos, Carlos E. ;

Cortes, Jorge E. ;

Dal Cin, Paola ;

DiNardo, Courtney D. ;

Dombret, Herve ;

Duncavage, Eric J. ;

Ebert, Benjamin L. ;

Estey, Elihu H. ;

Facchetti, Fabio ;

Foucar, Kathryn ;

Gangat, Naseema ;

Gianelli, Umberto ;

Godley, Lucy A. ;

Gokbuget, Nicola ;

Gotlib, Jason ;

Hellstrom-Lindberg, Eva ;

Hobbs, Gabriela S. ;

Hoffman, Ronald ;

Jabbour, Elias J. ;

Kiladjian, Jean-Jacques ;

Larson, Richard A. ;

Le Beau, Michelle M. ;

Loh, Mignon L. -C. ;

Lowenberg, Bob ;

Macintyre, Elizabeth ;

Malcovati, Luca ;

Mullighan, Charles G. ;

Niemeyer, Charlotte ;

Odenike, Olatoyosi M. ;

Ogawa, Seishi ;

Orfao, Alberto ;

Papaemmanuil, Elli ;

Passamonti, Francesco ;

Porkka, Kimmo ;

Pui, Ching-Hon ;

Radich, Jerald P. ;

Reiter, Andreas ;

Rozman, Maria ;

Rudelius, Martina ;

Savona, Michael R. .

BLOOD, 2022, 140 (11) :1200-1228

[4] Molecular Classification of AML-MRC Reveals a Distinct Profile and Identifies MRC-like Patients with Poor Overall Survival [J].

Baer, Constance ;

Walter, Wencke ;

Stengel, Anna ;

Hutter, Stephan ;

Meggendorfer, Manja ;

Kern, Wolfgang ;

Haferlach, Claudia ;

Haferlach, Torsten .

BLOOD, 2019, 134

[5] Morphological and Immunophenotypic Clues to the WHO Categories of Acute Myeloid Leukaemia [J].

Bain, Barbara J. ;

Bene, Marie C. .

ACTA HAEMATOLOGICA, 2019, 141 (04) :232-244

[6] FLT3 and NPM1 Mutations in Myelodysplastic Syndromes Frequency and Potential Value for Predicting Progression to Acute Myeloid Leukemia [J].

Bains, Ashish ;

Luthra, Rajyalakshmi ;

Medeiros, L. Jeffrey ;

Zuo, Zhuang .

AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2011, 135 (01) :62-69

[7] PROPOSALS FOR CLASSIFICATION OF ACUTE LEUKEMIAS [J].

BENNETT, JM ;

CATOVSKY, D ;

DANIEL, MT ;

FLANDRIN, G ;

GALTON, DAG ;

GRALNICK, HR ;

SULTAN, C .

BRITISH JOURNAL OF HAEMATOLOGY, 1976, 33 (04) :451-&

[8] PROPOSED REVISED CRITERIA FOR THE CLASSIFICATION OF ACUTE MYELOID-LEUKEMIA - A REPORT OF THE FRENCH-AMERICAN-BRITISH COOPERATIVE GROUP [J].

BENNETT, JM ;

CATOVSKY, D ;

DANIEL, MT ;

FLANDRIN, G ;

GALTON, DAG ;

GRALNICK, HR ;

SULTAN, C .

ANNALS OF INTERNAL MEDICINE, 1985, 103 (04) :620-625

[9] Implications ofTP53allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes [J].

Bernard, Elsa ;

Nannya, Yasuhito ;

Hasserjian, Robert P. ;

Devlin, Sean M. ;

Tuechler, Heinz ;

Medina-Martinez, Juan S. ;

Yoshizato, Tetsuichi ;

Shiozawa, Yusuke ;

Saiki, Ryunosuke ;

Malcovati, Luca ;

Levine, Max F. ;

Arango, Juan E. ;

Zhou, Yangyu ;

Sole, Francesc ;

Cargo, Catherine A. ;

Haase, Detlef ;

Creignou, Maria ;

Germing, Ulrich ;

Zhang, Yanming ;

Gundem, Gunes ;

Sarian, Araxe ;

van de Loosdrecht, Arjan A. ;

Jadersten, Martin ;

Tobiasson, Magnus ;

Kosmider, Olivier ;

Follo, Matilde Y. ;

Thol, Felicitas ;

Pinheiro, Ronald F. ;

Santini, Valeria ;

Kotsianidis, Ioannis ;

Boultwood, Jacqueline ;

Santos, Fabio P. S. ;

Schanz, Julie ;

Kasahara, Senji ;

Ishikawa, Takayuki ;

Tsurumi, Hisashi ;

Takaori-Kondo, Akifumi ;

Kiguchi, Toru ;

Polprasert, Chantana ;

Bennett, John M. ;

Klimek, Virginia M. ;

Savona, Michael R. ;

Belickova, Monika ;

Ganster, Christina ;

Palomo, Laura ;

Sanz, Guillermo ;

Ades, Lionel ;

Della Porta, Matteo Giovanni ;

Smith, Alexandra G. ;

Werner, Yesenia .

NATURE MEDICINE, 2020, 26 (10) :1549-+

[10] Monosomal karyotype in acute myeloid leukemia:: A better indicator of poor prognosis than a complex karyotype [J].

Breems, Dimitri A. ;

Van Putten, Wim L. J. ;

De Greef, Georgine E. ;

Van Zelderen-Bhola, Shama L. ;

Gerssen-Schoorl, Klasien B. J. ;

Mellink, Clemens H. M. ;

Nieuwint, Aggie ;

Jotterand, Martine ;

Hagemeijer, Anne ;

Beverloo, H. Berna ;

Lowenberg, Bob .

JOURNAL OF CLINICAL ONCOLOGY, 2008, 26 (29) :4791-4797

← 1 2 3 4 5 6 7 8 9 10 →