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inv(16)(p13q22)|t(16;16)(p13;q22) CBFB/MYH11

Written2018-01Jean-Loup Huret, Philippe Dessen

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 3491
Note Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation, go to  How to contribute

Clinics and Pathology

Disease Acute megakaryoblastic leukemia (FAB type M7)|Acute monoblastic leukemia (FAB type M5)|Acute monoblastic leukemia with differentiation (FAB type M5b)|Acute monoblastic leukemia without differentiation (FAB type M5a)|Acute myeloblastic leukemia with maturation (FAB type M2)|Acute myeloblastic leukemia with minimal differentiation (FAB type M0)|Acute myeloblastic leukemia without maturation (FAB type M1)|Acute myeloid leukemia, NOS|Acute myelomonocytic leukemia (FAB type M4)|Chronic myeloid leukemia, t(9;22)|Myelodysplastic syndrome, NOS|Nonneoplastic hematologic disorder/lesion|Refractory anemia|Refractory anemia with excess of blasts (FAB)|Refractory anemia with ringed sideroblasts

Genes involved and Proteins

Gene NameCBFB
Location 16q22.1
Gene NameMYH11
Location 16p13.11

Bibliography

Trisomy 22 in acute myeloid leukemia: a marker for myeloid leukemia with monocytic features and cytogenetically cryptic inversion 16
Wong KF, Kwong YL
Cancer Genet Cytogenet 1999 Mar;109(2):131-3
PMID 10087946
 
Typical CBFbeta/MYH11 fusion due to insertion of the 3'-MYH11 gene into 16q22 in acute monocytic leukemia with normal chromosomes 16 and trisomies 8 and 22
Aventín A, La Starza R, Nomdedéu J, Brunet S, Sierra J, Mecucci C
Cancer Genet Cytogenet 2000 Dec;123(2):137-9
PMID 11150605
 
Detection of CBFbeta/MYH11 fusion transcripts in acute myeloid leukemia: heterogeneity of cytological and molecular characteristics
Costello R, Sainty D, Lecine P, Cusenier A, Mozziconacci MJ, Arnoulet C, Maraninchi D, Gastaut JA, Imbert J, Lafage-Pochitaloff M, Gabert J
Leukemia 1997 May;11(5):644-50
PMID 9180286
 
High concordance of karyotype analysis and RT-PCR for CBF beta/MYH11 in unselected patients with acute myeloid leukemia
Mitterbauer M, Laczika K, Novak M, Mitterbauer G, Hilgarth B, Pirc-Danoewinata H, Schwarzinger I, Haas OA, Fonatsch C, Lechner K, Jaeger U
A single center study Am J Clin Pathol
PMID 10705822
 
Use of dual-color interphase FISH for the detection of inv(16) in acute myeloid leukemia at diagnosis, relapse and during follow-up: a study of 23 patients
Mancini M, Cedrone M, Diverio D, Emanuel B, Stul M, Vranckx H, Brama M, De Cuia MR, Nanni M, Fazi F, Mecucci C, Alimena G, Hagemeijer A
Leukemia 2000 Mar;14(3):364-8
PMID 10720127
 
High concordance of karyotype analysis and RT-PCR for CBF beta/MYH11 in unselected patients with acute myeloid leukemia
Mitterbauer M, Laczika K, Novak M, Mitterbauer G, Hilgarth B, Pirc-Danoewinata H, Schwarzinger I, Haas OA, Fonatsch C, Lechner K, Jaeger U
A single center study Am J Clin Pathol
PMID 10705822
 
Competitive CBFbeta/MYH11 reverse-transcriptase polymerase chain reaction for quantitative assessment of minimal residual disease during postremission therapy in acute myeloid leukemia with inversion(16): a pilot study
Laczika K, Novak M, Hilgarth B, Mitterbauer M, Mitterbauer G, Scheidel-Petrovic A, Scholten C, Thalhammer-Scherrer R, Brugger S, Keil F, Schwarzinger I, Haas OA, Lechner K, Jaeger U
J Clin Oncol 1998 Apr;16(4):1519-25
PMID 9552061
 
A unique structural abnormality of chromosome 16 resulting in a CBF beta-MYH11 fusion transcript in a patient with acute myeloid leukemia, FAB M4
O'Reilly J, Chipper L, Springall F, Herrmann R
Cancer Genet Cytogenet 2000 Aug;121(1):52-5
PMID 10958941
 
Detection of the CBFB/MYH11 fusion gene in de novo acute myeloid leukemia (AML): a single-institution study of 224 Japanese AML patients
Monma F, Nishii K, Shiga J, Sugahara H, Lorenzo F 5th, Watanabe Y, Kawakami K, Hosokai N, Yamamori S, Katayama N, Shiku H
Leuk Res 2007 Apr;31(4):471-6
PMID 17052753
 
Rare CBFB-MYH11 fusion transcripts in AML with inv(16)/t(16;16) are associated with therapy-related AML M4eo, atypical cytomorphology, atypical immunophenotype, atypical additional chromosomal rearrangements and low white blood cell count: a study on 162 patients
Schnittger S, Bacher U, Haferlach C, Kern W, Haferlach T
Leukemia 2007 Apr;21(4):725-31
PMID 17287858
 
A case with a cytogenetically cryptic variant of the inv(16)(p13q22)/t(16;16)(p13;q22)
Van Obbergh F, Michaux L, Maertens J, Schoemans H, Vandenberghe P
Cancer Genet 2014 May;207(5):231-2
PMID 24972931
 
Heterogeneity in CBF beta/MYH11 fusion messages encoded by the inv(16)(p13q22) and the t(16;16)(p13;q22) in acute myelogenous leukemia
Shurtleff SA, Meyers S, Hiebert SW, Raimondi SC, Head DR, Willman CL, Wolman S, Slovak ML, Carroll AJ, Behm F, et al
Blood 1995 Jun 15;85(12):3695-703
PMID 7780153
 
Detection of minimal residual disease in acute myelomonocytic leukemia with abnormal marrow eosinophils by nested polymerase chain reaction with allele specific amplification
Hébert J, Cayuela JM, Daniel MT, Berger R, Sigaux F
Blood 1994 Oct 1;84(7):2291-6
PMID 7919348
 
Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia
Liu P, Tarlé SA, Hajra A, Claxton DF, Marlton P, Freedman M, Siciliano MJ, Collins FS
Science 1993 Aug 20;261(5124):1041-4
PMID 8351518
 
Characterization and use of an antibody detecting the CBFbeta-SMMHC fusion protein in inv(16)/t(16;16)-associated acute myeloid leukemias
Viswanatha DS, Chen I, Liu PP, Slovak ML, Rankin C, Head DR, Willman CL
Blood 1998 Mar 15;91(6):1882-90
PMID 9490670
 
Childhood acute myeloid leukemia with CBFbeta-MYH11 rearrangement: study of incidence, morphology, cytogenetics, and clinical outcomes of Chinese in Hong Kong
Chan NP, Wong WS, Ng MH, Tsang KS, Lau TT, Leung Y, Chik KW, Shing MM, Li CK
Am J Hematol 2004 Jul;76(3):300-3
PMID 15224374
 
Acute myeloid leukemia with translocation (8;21) or inversion (16) in elderly patients treated with conventional chemotherapy: a collaborative study of the French CBF-AML intergroup
Prébet T, Boissel N, Reutenauer S, Thomas X, Delaunay J, Cahn JY, Pigneux A, Quesnel B, Witz F, Thépot S, Ugo V, Terre C, Recher C, Tavernier E, Hunault M, Esterni B, Castaigne S, Guilhot F, Dombret H, Vey N; Acute Leukemia French Association; Groupe Ouest-Est des leucémies et autres maladies du sang (GOELAMS); Core Binding Factor Acute Myeloid Leukemia (CBF AML) intergroup
J Clin Oncol 2009 Oct 1;27(28):4747-53
PMID 19720919
 
Prevalence and prognostic significance of KIT mutations in pediatric patients with core binding factor AML enrolled on serial pediatric cooperative trials for de novo AML
Pollard JA, Alonzo TA, Gerbing RB, Ho PA, Zeng R, Ravindranath Y, Dahl G, Lacayo NJ, Becton D, Chang M, Weinstein HJ, Hirsch B, Raimondi SC, Heerema NA, Woods WG, Lange BJ, Hurwitz C, Arceci RJ, Radich JP, Bernstein ID, Heinrich MC, Meshinchi S
Blood 2010 Mar 25;115(12):2372-9
PMID 20056794
 
Prognostic impact of specific chromosomal aberrations in a large group of pediatric patients with acute myeloid leukemia treated uniformly according to trial AML-BFM 98
von Neuhoff C, Reinhardt D, Sander A, Zimmermann M, Bradtke J, Betts DR, Zemanova Z, Stary J, Bourquin JP, Haas OA, Dworzak MN, Creutzig U
J Clin Oncol 2010 Jun 1;28(16):2682-9
PMID 20439630
 
Minimal residual disease-directed therapy for childhood acute myeloid leukaemia: results of the AML02 multicentre trial
Rubnitz JE, Inaba H, Dahl G, Ribeiro RC, Bowman WP, Taub J, Pounds S, Razzouk BI, Lacayo NJ, Cao X, Meshinchi S, Degar B, Airewele G, Raimondi SC, Onciu M, Coustan-Smith E, Downing JR, Leung W, Pui CH, Campana D
Lancet Oncol 2010 Jun;11(6):543-52
PMID 20451454
 
Characteristics of translocation (16;16)(p13;q22) acute myeloid leukemia
Eghtedar A, Borthakur G, Ravandi F, Jabbour E, Cortes J, Pierce S, Kantarjian H, Garcia-Manero G
Am J Hematol 2012 Mar;87(3):317-8
PMID 22228403
 
Minimal residual disease monitoring by quantitative RT-PCR in core binding factor AML allows risk stratification and predicts relapse: results of the United Kingdom MRC AML-15 trial
Yin JA, O'Brien MA, Hills RK, Daly SB, Wheatley K, Burnett AK
Blood 2012 Oct 4;120(14):2826-35
PMID 22875911
 
A novel hierarchical prognostic model of AML solely based on molecular mutations
Grossmann V, Schnittger S, Kohlmann A, Eder C, Roller A, Dicker F, Schmid C, Wendtner CM, Staib P, Serve H, Kreuzer KA, Kern W, Haferlach T, Haferlach C
Blood 2012 Oct 11;120(15):2963-72
PMID 22915647
 
Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG)
Paschka P, Du J, Schlenk RF, Gaidzik VI, Bullinger L, Corbacioglu A, Späth D, Kayser S, Schlegelberger B, Krauter J, Ganser A, Köhne CH, Held G, von Lilienfeld-Toal M, Kirchen H, Rummel M, Götze K, Horst HA, Ringhoffer M, Lübbert M, Wattad M, Salih HR, Kündgen A, Döhner H, Döhner K
Blood 2013 Jan 3;121(1):170-7
PMID 23115274
 
inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations
Schwind S, Edwards CG, Nicolet D, Mrózek K, Maharry K, Wu YZ, Paschka P, Eisfeld AK, Hoellerbauer P, Becker H, Metzeler KH, Curfman J, Kohlschmidt J, Prior TW, Kolitz JE, Blum W, Pettenati MJ, Dal Cin P, Carroll AJ, Caligiuri MA, Larson RA, Volinia S, Marcucci G, Bloomfield CD; Alliance for Clinical Trials in Oncology
Blood 2013 Jan 10;121(2):385-91
PMID 23160462
 
Minimal residual disease monitored after induction therapy by RQ-PCR can contribute to tailor treatment of patients with t(8;21) RUNX1-RUNX1T1 rearrangement
Pigazzi M, Manara E, Buldini B, Beqiri V, Bisio V, Tregnago C, Rondelli R, Masetti R, Putti MC, Fagioli F, Rizzari C, Pession A, Locatelli F, Basso G
Haematologica 2015 Mar;100(3):e99-101
PMID 25480496
 
Heterogeneity in CBF beta/MYH11 fusion messages encoded by the inv(16)(p13q22) and the t(16;16)(p13;q22) in acute myelogenous leukemia
Shurtleff SA, Meyers S, Hiebert SW, Raimondi SC, Head DR, Willman CL, Wolman S, Slovak ML, Carroll AJ, Behm F, et al
Blood 1995 Jun 15;85(12):3695-703
PMID 7780153
 
RT-PCR diagnosis of patients with acute nonlymphocytic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts
van der Reijden BA, Lombardo M, Dauwerse HG, Giles RH, Mühlematter D, Bellomo MJ, Wessels HW, Beverstock GC, van Ommen GJ, Hagemeijer A, et al
Blood 1995 Jul 1;86(1):277-82
PMID 7795233
 
Molecular characterization of 16p deletions associated with inversion 16 defines the critical fusion for leukemogenesis
Marlton P, Claxton DF, Liu P, Estey EH, Beran M, LeBeau M, Testa JR, Collins FS, Rowley JD, Siciliano MJ
Blood 1995 Feb 1;85(3):772-9
PMID 7833479
 
Detection of fusion transcripts generated by the inversion 16 chromosome in acute myelogenous leukemia
Claxton DF, Liu P, Hsu HB, Marlton P, Hester J, Collins F, Deisseroth AB, Rowley JD, Siciliano MJ
Blood 1994 Apr 1;83(7):1750-6
PMID 8142642
 
inv(16)(p13q22) in chronic myelogenous leukemia in blast phase: a clinicopathologic, cytogenetic, and molecular study of five cases
Merzianu M, Medeiros LJ, Cortes J, Yin C, Lin P, Jones D, Glassman A, Kantarjian H, Huh Y
Am J Clin Pathol 2005 Nov;124(5):807-14
PMID 16203287
 
Detection of fusion transcripts generated by the inversion 16 chromosome in acute myelogenous leukemia
Claxton DF, Liu P, Hsu HB, Marlton P, Hester J, Collins F, Deisseroth AB, Rowley JD, Siciliano MJ
Blood 1994 Apr 1;83(7):1750-6
PMID 8142642
 
Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells
Liu PP, Wijmenga C, Hajra A, Blake TB, Kelley CA, Adelstein RS, Bagg A, Rector J, Cotelingam J, Willman CL, Collins FS
Genes Chromosomes Cancer 1996 Jun;16(2):77-87
PMID 8818654
 
Common leukemia- and lymphoma-associated genetic aberrations in healthy individuals
Song J, Mercer D, Hu X, Liu H, Li MM
J Mol Diagn 2011 Mar;13(2):213-9
PMID 21354057
 
Detection of CBFB/MYH11 transcripts in patients with inversion and other abnormalities of chromosome 16 at presentation and remission
Tobal K, Johnson PR, Saunders MJ, Harrison CJ, Liu Yin JA
Br J Haematol 1995 Sep;91(1):104-8
PMID 7577615
 
Heterogeneity in CBF beta/MYH11 fusion messages encoded by the inv(16)(p13q22) and the t(16;16)(p13;q22) in acute myelogenous leukemia
Shurtleff SA, Meyers S, Hiebert SW, Raimondi SC, Head DR, Willman CL, Wolman S, Slovak ML, Carroll AJ, Behm F, et al
Blood 1995 Jun 15;85(12):3695-703
PMID 7780153
 
Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells
Liu PP, Wijmenga C, Hajra A, Blake TB, Kelley CA, Adelstein RS, Bagg A, Rector J, Cotelingam J, Willman CL, Collins FS
Genes Chromosomes Cancer 1996 Jun;16(2):77-87
PMID 8818654
 
Characterization and use of an antibody detecting the CBFbeta-SMMHC fusion protein in inv(16)/t(16;16)-associated acute myeloid leukemias
Viswanatha DS, Chen I, Liu PP, Slovak ML, Rankin C, Head DR, Willman CL
Blood 1998 Mar 15;91(6):1882-90
PMID 9490670
 
Competitive CBFbeta/MYH11 reverse-transcriptase polymerase chain reaction for quantitative assessment of minimal residual disease during postremission therapy in acute myeloid leukemia with inversion(16): a pilot study
Laczika K, Novak M, Hilgarth B, Mitterbauer M, Mitterbauer G, Scheidel-Petrovic A, Scholten C, Thalhammer-Scherrer R, Brugger S, Keil F, Schwarzinger I, Haas OA, Lechner K, Jaeger U
J Clin Oncol 1998 Apr;16(4):1519-25
PMID 9552061
 
Heterogeneity in CBF beta/MYH11 fusion messages encoded by the inv(16)(p13q22) and the t(16;16)(p13;q22) in acute myelogenous leukemia
Shurtleff SA, Meyers S, Hiebert SW, Raimondi SC, Head DR, Willman CL, Wolman S, Slovak ML, Carroll AJ, Behm F, et al
Blood 1995 Jun 15;85(12):3695-703
PMID 7780153
 
Detection and quantitation of the CBFbeta/MYH11 transcripts associated with the inv(16) in presentation and follow-up samples from patients with AML
Evans PA, Short MA, Jack AS, Norfolk DR, Child JA, Shiach CR, Davies F, Tobal K, Liu Yin JA, Morgan GJ
Leukemia 1997 Mar;11(3):364-9
PMID 9067575
 
Frequency of CBF beta/MYH11 fusion transcripts in patients entered into the U
Langabeer SE, Walker H, Gale RE, Wheatley K, Burnett AK, Goldstone AH, Linch DC
K MRC AML trials
PMID 9074414
 
Characterization and use of an antibody detecting the CBFbeta-SMMHC fusion protein in inv(16)/t(16;16)-associated acute myeloid leukemias
Viswanatha DS, Chen I, Liu PP, Slovak ML, Rankin C, Head DR, Willman CL
Blood 1998 Mar 15;91(6):1882-90
PMID 9490670
 
Detection and quantitation of the CBFbeta/MYH11 transcripts associated with the inv(16) in presentation and follow-up samples from patients with AML
Evans PA, Short MA, Jack AS, Norfolk DR, Child JA, Shiach CR, Davies F, Tobal K, Liu Yin JA, Morgan GJ
Leukemia 1997 Mar;11(3):364-9
PMID 9067575
 
Detection of CBFbeta/MYH11 fusion transcripts in acute myeloid leukemia: heterogeneity of cytological and molecular characteristics
Costello R, Sainty D, Lecine P, Cusenier A, Mozziconacci MJ, Arnoulet C, Maraninchi D, Gastaut JA, Imbert J, Lafage-Pochitaloff M, Gabert J
Leukemia 1997 May;11(5):644-50
PMID 9180286
 


Translocations implicated (Data extracted from papers in the Atlas)

 inv(16)(p13q22)|t(16;16)(p13;q22) CBFB/MYH11

External links

CBFB (16q22.1) MYH11 (16p13.11)

Mitelman databaseinv(16)(p13q22)|t(16;16)(p13;q22) [Case List]    inv(16)(p13q22)|t(16;16)(p13;q22) [Transloc-MCList] CBFB/MYH11 [Fusion-MCList]
COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
arrayMap (UZH-SIB Zurich)[select an item]
 
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Tue Nov 6 14:08:50 CET 2018


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