Integration of cytogenomic data for furthering the characterization of pediatric B-cell acute lymphoblastic leukemia: a multi-institution multi-platform microarray study

被引：29

作者：

Baughn, Linda B. ^{[1
,2
]}

Biegel, Jaclyn A. ^{[3
]}

South, Sarah T. ^{[4
]}

Smolarek, Teresa A. ^{[5
]}

Volkert, Suzanne ^{[1
,2
]}

Carroll, Andrew J. ^{[6
]}

Heerema, Nyla A. ^{[7
]}

Rabin, Karen R. ^{[8
]}

Zweidler-McKay, Patrick A. ^{[9
]}

Loh, Mignon ^{[10
,11
]}

Hirsch, Betsy ^{[1
,2
]}

机构：

[1] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA

[2] Univ Minnesota, Mason Canc Ctr, Minneapolis, MN 55455 USA

[3] Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA

[4] Univ Utah, Dept Pathol, ARUP Labs, Salt Lake City, UT USA

[5] Cincinnati Childrens Hosp Med Ctr, Dept Pediat, Div Human Genet, Cincinnati, OH 45229 USA

[6] Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA

[7] Ohio State Univ, Dept Pathol, Wexner Med Ctr, Columbus, OH 43210 USA

[8] Baylor Coll Med, Dept Pediat, Texas Childrens Canc Ctr, Houston, TX 77030 USA

[9] Univ Texas MD Anderson Canc Ctr, Dept Pediat, Houston, TX 77030 USA

[10] Univ Calif San Francisco, Dept Pediat, Benioff Childrens Hosp, San Francisco, CA USA

[11] Univ Calif San Francisco, Helen Diller Family Comprehens Canc Ctr, San Francisco, CA 94143 USA

来源：

CANCER GENETICS | 2015年 / 208卷 / 1-2期

关键词：

B-ALL; microarray; ETV6-RUNX1; hypodiploid; IKZF1; iAMP21; CHILDRENS ONCOLOGY GROUP; INTRACHROMOSOMAL AMPLIFICATION; CHROMOSOME-21; IAMP21; GENETIC ALTERATIONS; IKZF1; DELETIONS; CHILDHOOD; REARRANGEMENT; EXPRESSION; PROGENITOR; MUTATIONS;

D O I：

10.1016/j.cancergen.2014.11.003

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

It is well documented that among subgroups of B-cell acute lymphoblastic leukemia (B-ALL), the genetic profile of the leukemic blasts has significant impact on prognosis and stratification for therapy. Recent studies have documented the power of microarrays to screen genome-wide for copy number aberrations (CNAs) and regions of copy number neutral loss of heterozygosity (CNLOH) that are not detectable by G-banding or fluorescence in situ hybridization (FISH). These studies have involved application of a single array platform for the respective cases. The present investigation demonstrates the feasibility and usefulness of integrating array results from multiple laboratories (ARUP, The Children's Hospital of Philadelphia, Cincinnati Children's Hospital Medical Center, and University of Minnesota Medical Center) that utilize different array platforms (Affymetrix, Agilent, or Illumina) in their respective clinical settings. A total of 65 patients enrolled on the Children's Oncology Group (COG) study AALL08B1 were identified for study, as cytogenetic and FISH studies had also been performed on these patients, with a central review of those results available for comparison. Microarray data were first analyzed by the individual laboratories with their respective software systems; raw data files were then centrally validated using NEXUS software. The results demonstrated the added value of integrating multi-platform data with cytogenetic and FISH data and highlight novel findings identified by array including the co-occurrence of low and high risk abnormalities not previously reported to coexist within a clone, novel regions of chromosomal amplification, clones characterized by numerous whole chromosome LOH that do not meet criteria for doubling of a near-haploid, and characterization of array profiles associated with an IKZF1 deletion. Each of these findings raises questions that are clinically relevant to risk stratification. (C) 2015 Published by Elsevier Inc.

引用

页码：1 / U76

页数：21

共 36 条

[1] An intragenic ERG deletion is a marker of an oncogenic subtype of B-cell precursor acute lymphoblastic leukemia with a favorable outcome despite frequent IKZF1 deletions [J].

Clappier, E. ;

Auclerc, M-F ;

Rapion, J. ;

Bakkus, M. ;

Caye, A. ;

Khemiri, A. ;

Giroux, C. ;

Hernandez, L. ;

Kabongo, E. ;

Savola, S. ;

Leblanc, T. ;

Yakouben, K. ;

Plat, G. ;

Costa, V. ;

Ferster, A. ;

Girard, S. ;

Fenneteau, O. ;

Cayuela, J-M ;

Sigaux, F. ;

Dastugue, N. ;

Suciu, S. ;

Benoit, Y. ;

Bertrand, Y. ;

Soulier, J. ;

Cave, H. .

LEUKEMIA, 2014, 28 (01) :70-77

[2] A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study [J].

Den Boer, Monique L. ;

van Slegtenhorst, Marjon ;

De Menezes, Renee X. ;

Cheok, Meyling H. ;

Buijs-Gladdines, Jessica G. C. A. M. ;

Peters, Susan T. C. J. M. ;

Van Zutven, Laura C. M. ;

Beverloo, H. Berna ;

Van der Spek, Peter J. ;

Escherich, Gaby ;

Horstmann, Martin A. ;

Janka-Schoub, Gritta E. ;

Kamps, Willem A. ;

Evans, William E. ;

Pieters, Rob .

LANCET ONCOLOGY, 2009, 10 (02) :125-134

[3] Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies [J].

Dougherty, Margaret J. ;

Wilmoth, Donna M. ;

Tooke, Laura S. ;

Shaikh, Tamim H. ;

Gai, Xiaowu ;

Hakonarson, Hakon ;

Biegel, Jaclyn A. .

CANCER GENETICS, 2011, 204 (01) :26-38

[4] Cytogenetic patterns in ETV6/RUNXI-positive pediatric B-cell precursor acute lymphoblastic leukemia:: A Nordic series of 245 cases and review of the literature [J].

Forestier, Erik ;

Andersen, Mette K. ;

Autio, Kirsi ;

Blennow, Elisabeth ;

Borgstrom, Georg ;

Golovleva, Irina ;

Heim, Sverre ;

Heinonen, Kristina ;

Hovland, Randi ;

Johannsson, Johann H. ;

Kerndrup, Gitte ;

Nordgren, Ann ;

Rosenquist, Richard ;

Swolin, Birgitta ;

Johansson, Bertil .

GENES CHROMOSOMES & CANCER, 2007, 46 (05) :440-450

[5]

Greaves Mel, 2006, Discov Med, V6, P24

[6] An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome [J].

Harrison, C. J. ;

Moorman, A. V. ;

Schwab, C. ;

Carroll, A. J. ;

Raetz, E. A. ;

Devidas, M. ;

Strehl, S. ;

Nebral, K. ;

Harbott, J. ;

Teigler-Schlegel, A. ;

Zimmerman, M. ;

Dastuge, N. ;

Baruchel, A. ;

Soulier, J. ;

Auclerc, M-F ;

Attarbaschi, A. ;

Mann, G. ;

Stark, B. ;

Cazzaniga, G. ;

Chilton, L. ;

Vandenberghe, P. ;

Forestier, E. ;

Haltrich, I. ;

Raimondi, S. C. ;

Parihar, M. ;

Bourquin, J-P ;

Tchinda, J. ;

Haferlach, C. ;

Vora, A. ;

Hunger, S. P. ;

Heerema, N. A. ;

Haas, O. A. .

LEUKEMIA, 2014, 28 (05) :1015-1021

[7] Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia [J].

Harrison, CJ ;

Moorman, AV ;

Broadfield, ZJ ;

Cheung, KL ;

Harris, RL ;

Jalali, GR ;

Robinson, HM ;

Barber, KE ;

Richards, SM ;

Mitchell, CD ;

Eden, TOB ;

Hann, IM ;

Hill, FGH ;

Kinsey, SE ;

Gibson, BES ;

Lilleyman, J ;

Vora, A ;

Goldstone, AH ;

Franklin, IM ;

Durrant, J ;

Martineau, M .

BRITISH JOURNAL OF HAEMATOLOGY, 2004, 125 (05) :552-559

[8] Identification of novel cluster groups in pediatric high-risk B-precursor acute lymphoblastic leukemia with gene expression profiling: correlation with genome-wide DNA copy number alterations, clinical characteristics, and outcome [J].

Harvey, Richard C. ;

Mullighan, Charles G. ;

Wang, Xuefei ;

Dobbin, Kevin K. ;

Davidson, George S. ;

Bedrick, Edward J. ;

Chen, I-Ming ;

Atlas, Susan R. ;

Kang, Huining ;

Ar, Kerem ;

Wilson, Carla S. ;

Wharton, Walker ;

Murphy, Maurice ;

Devidas, Meenakshi ;

Carroll, Andrew J. ;

Borowitz, Michael J. ;

Bowman, W. Paul ;

Downing, James R. ;

Relling, Mary ;

Yang, Jun ;

Bhojwani, Deepa ;

Carroll, William L. ;

Camitta, Bruce ;

Reaman, Gregory H. ;

Smith, Malcolm ;

Hunger, Stephen P. ;

Willman, Cheryl L. .

BLOOD, 2010, 116 (23) :4874-4884

[9] Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia [J].

Harvey, Richard C. ;

Mullighan, Charles G. ;

Chen, I-Ming ;

Wharton, Walker ;

Mikhail, Fady M. ;

Carroll, Andrew J. ;

Kang, Huining ;

Liu, Wei ;

Dobbin, Kevin K. ;

Smith, Malcolm A. ;

Carroll, William L. ;

Devidas, Meenakshi ;

Bowman, W. Paul ;

Camitta, Bruce M. ;

Reaman, Gregory H. ;

Hunger, Stephen P. ;

Downing, James R. ;

Willman, Cheryl L. .

BLOOD, 2010, 115 (26) :5312-5321

[10] Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia [J].

Heerema, Nyla A. ;

Raimondi, Susana C. ;

Anderson, James R. ;

Biegel, Jaclyn ;

Camitta, Bruce M. ;

Cooley, Linda D. ;

Gaynon, Paul S. ;

Hirsch, Betsy ;

Magenis, R. Ellen ;

McGavran, Loris ;

Patil, Shivanand ;

Pettenati, Mark J. ;

Pullen, Jeanette ;

Rao, Kathleen ;

Roulston, Diane ;

Schneider, Nancy R. ;

Shuster, Jonathan J. ;

Sanger, Warren ;

Sutcliffe, Maxine J. ;

van Tuinen, Peter ;

Watson, Michael S. ;

Carroll, Andrew J. .

GENES CHROMOSOMES & CANCER, 2007, 46 (07) :684-693

← 1 2 3 4 →