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CBFB Gene Rearrangement

MedGen UID:
1705104
•Concept ID:
C5204022
•
Cell or Molecular Dysfunction
Synonyms: CBF-Beta Gene Rearrangement; CBFB Rearrangement; Core-Binding Factor Subunit Beta Gene Rearrangement; PEBP2B Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the CBFB gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCBFB Gene Rearrangement

Professional guidelines

PubMed

A rapid RT-PCR screening assay incorporating multiplexed validated control genes for CBF rearrangements at diagnosis in AML.
Saal RJ, Marlton PV, Timson G, Gill DS, Waugh M, Springall F, Iland H
Pathology 2004 Aug;36(4):335-42. doi: 10.1080/0031302042000224593. PMID: 15370133

Recent clinical studies

Etiology

AML with inv(16)/t(16;16) and high-risk cytogenetic abnormalities: atypical features and unfavorable outcome.
Assaf N, Lefebvre C, Raggueneau V, Guignedoux G, Marceau-Renaut A, Chevalier S, Tondeur S, Bories D, Benramdane R, Rousselot P, Terré C
Hematology 2022 Dec;27(1):636-641. doi: 10.1080/16078454.2022.2078027. PMID: 35622005
RUNX2 regulates leukemic cell metabolism and chemotaxis in high-risk T cell acute lymphoblastic leukemia.
Matthijssens F, Sharma ND, Nysus M, Nickl CK, Kang H, Perez DR, Lintermans B, Van Loocke W, Roels J, Peirs S, Demoen L, Pieters T, Reunes L, Lammens T, De Moerloose B, Van Nieuwerburgh F, Deforce DL, Cheung LC, Kotecha RS, Risseeuw MD, Van Calenbergh S, Takarada T, Yoneda Y, van Delft FW, Lock RB, Merkley SD, Chigaev A, Sklar LA, Mullighan CG, Loh ML, Winter SS, Hunger SP, Goossens S, Castillo EF, Ornatowski W, Van Vlierberghe P, Matlawska-Wasowska K
J Clin Invest 2021 Mar 15;131(6) doi: 10.1172/JCI141566. PMID: 33555272Free PMC Article
Patients aged less than 3 years with acute myeloid leukaemia characterize a molecularly and clinically distinct subgroup.
Hara Y, Shiba N, Yamato G, Ohki K, Tabuchi K, Sotomatsu M, Tomizawa D, Kinoshita A, Arakawa H, Saito AM, Kiyokawa N, Tawa A, Horibe K, Taga T, Adachi S, Taki T, Hayashi Y
Br J Haematol 2020 Feb;188(4):528-539. Epub 2019 Oct 14 doi: 10.1111/bjh.16203. PMID: 31612466
Banding and molecular cytogenetic studies detected a CBFB-MYH11 fusion gene that appeared as abnormal chromosomes 1 and 16 in a baby with acute myeloid leukemia FAB M4-Eo.
Macedo Silva ML, Raimondi SC, Abdelhay E, Gross M, Mkrtchyan H, de Figueiredo AF, Ribeiro RC, de Jesus Marques-Salles T, Sobral ES, Gerardin Land MP, Liehr T
Cancer Genet Cytogenet 2008 Apr 1;182(1):56-60. doi: 10.1016/j.cancergencyto.2007.12.014. PMID: 18328953
A study to determine whether trisomy 8, deleted 9q and trisomy 22 are markers of cryptic rearrangements of PML/RARalpha, AML1/ETO and CBFB/MYH11 respectively in acute myeloid leukaemia. MRC Adult Leukaemia Working Party. Medical Research Council.
Langabeer SE, Grimwade D, Walker H, Rogers JR, Burnett AK, Goldstone AH, Linch DC
Br J Haematol 1998 May;101(2):338-40. doi: 10.1046/j.1365-2141.1998.00686.x. PMID: 9609531

Diagnosis

AML with inv(16)/t(16;16) and high-risk cytogenetic abnormalities: atypical features and unfavorable outcome.
Assaf N, Lefebvre C, Raggueneau V, Guignedoux G, Marceau-Renaut A, Chevalier S, Tondeur S, Bories D, Benramdane R, Rousselot P, Terré C
Hematology 2022 Dec;27(1):636-641. doi: 10.1080/16078454.2022.2078027. PMID: 35622005
All-trans retinoic acid induces differentiation in primary acute myeloid leukemia blasts carrying an inversion of chromosome 16.
Dembitz V, Lalic H, Tomic B, Smoljo T, Batinic J, Dubravcic K, Batinic D, Bedalov A, Visnjic D
Int J Hematol 2022 Jan;115(1):43-53. Epub 2021 Sep 21 doi: 10.1007/s12185-021-03224-5. PMID: 34546543
Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits.
Park TS, Lee ST, Song J, Lee KA, Lee JH, Kim J, Lee HJ, Han JH, Kim JK, Cho SR, Choi JR
Cancer Genet Cytogenet 2009 Mar;189(2):87-92. doi: 10.1016/j.cancergencyto.2008.10.012. PMID: 19215788
Molecular hematology. Qualitative to quantitative techniques.
Khalil SH
Saudi Med J 2005 Oct;26(10):1516-22. PMID: 16228048
Fusion gene transcripts and Ig/TCR gene rearrangements are complementary but infrequent targets for PCR-based detection of minimal residual disease in acute myeloid leukemia.
Boeckx N, Willemse MJ, Szczepanski T, van der Velden VH, Langerak AW, Vandekerckhove P, van Dongen JJ
Leukemia 2002 Mar;16(3):368-75. doi: 10.1038/sj.leu.2402387. PMID: 11896540

Therapy

All-trans retinoic acid induces differentiation in primary acute myeloid leukemia blasts carrying an inversion of chromosome 16.
Dembitz V, Lalic H, Tomic B, Smoljo T, Batinic J, Dubravcic K, Batinic D, Bedalov A, Visnjic D
Int J Hematol 2022 Jan;115(1):43-53. Epub 2021 Sep 21 doi: 10.1007/s12185-021-03224-5. PMID: 34546543
Patients aged less than 3 years with acute myeloid leukaemia characterize a molecularly and clinically distinct subgroup.
Hara Y, Shiba N, Yamato G, Ohki K, Tabuchi K, Sotomatsu M, Tomizawa D, Kinoshita A, Arakawa H, Saito AM, Kiyokawa N, Tawa A, Horibe K, Taga T, Adachi S, Taki T, Hayashi Y
Br J Haematol 2020 Feb;188(4):528-539. Epub 2019 Oct 14 doi: 10.1111/bjh.16203. PMID: 31612466
Environmental and chemotherapeutic agents induce breakage at genes involved in leukemia-causing gene rearrangements in human hematopoietic stem/progenitor cells.
Thys RG, Lehman CE, Pierce LC, Wang YH
Mutat Res 2015 Sep;779:86-95. Epub 2015 Jun 27 doi: 10.1016/j.mrfmmm.2015.06.011. PMID: 26163765Free PMC Article
Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia.
Opatz S, Polzer H, Herold T, Konstandin NP, Ksienzyk B, Zellmeier E, Vosberg S, Graf A, Krebs S, Blum H, Hopfner KP, Kakadia PM, Schneider S, Dufour A, Braess J, Sauerland MC, Berdel WE, Büchner T, Woermann BJ, Hiddemann W, Spiekermann K, Bohlander SK, Greif PA
Blood 2013 Sep 5;122(10):1761-9. Epub 2013 Jul 22 doi: 10.1182/blood-2013-01-476473. PMID: 23878140
Inversion of chromosome 16 and uncommon rearrangements of the CBFB and MYH11 genes in therapy-related acute myeloid leukemia: rare events related to DNA-topoisomerase II inhibitors?
Dissing M, Le Beau MM, Pedersen-Bjergaard J
J Clin Oncol 1998 May;16(5):1890-6. doi: 10.1200/JCO.1998.16.5.1890. PMID: 9586906

Prognosis

AML with inv(16)/t(16;16) and high-risk cytogenetic abnormalities: atypical features and unfavorable outcome.
Assaf N, Lefebvre C, Raggueneau V, Guignedoux G, Marceau-Renaut A, Chevalier S, Tondeur S, Bories D, Benramdane R, Rousselot P, Terré C
Hematology 2022 Dec;27(1):636-641. doi: 10.1080/16078454.2022.2078027. PMID: 35622005
Patients aged less than 3 years with acute myeloid leukaemia characterize a molecularly and clinically distinct subgroup.
Hara Y, Shiba N, Yamato G, Ohki K, Tabuchi K, Sotomatsu M, Tomizawa D, Kinoshita A, Arakawa H, Saito AM, Kiyokawa N, Tawa A, Horibe K, Taga T, Adachi S, Taki T, Hayashi Y
Br J Haematol 2020 Feb;188(4):528-539. Epub 2019 Oct 14 doi: 10.1111/bjh.16203. PMID: 31612466
Clinical Relevance of RUNX1 and CBFB Alterations in Acute Myeloid Leukemia and Other Hematological Disorders.
Metzeler KH, Bloomfield CD
Adv Exp Med Biol 2017;962:175-199. doi: 10.1007/978-981-10-3233-2_12. PMID: 28299658
Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia.
Opatz S, Polzer H, Herold T, Konstandin NP, Ksienzyk B, Zellmeier E, Vosberg S, Graf A, Krebs S, Blum H, Hopfner KP, Kakadia PM, Schneider S, Dufour A, Braess J, Sauerland MC, Berdel WE, Büchner T, Woermann BJ, Hiddemann W, Spiekermann K, Bohlander SK, Greif PA
Blood 2013 Sep 5;122(10):1761-9. Epub 2013 Jul 22 doi: 10.1182/blood-2013-01-476473. PMID: 23878140
Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits.
Park TS, Lee ST, Song J, Lee KA, Lee JH, Kim J, Lee HJ, Han JH, Kim JK, Cho SR, Choi JR
Cancer Genet Cytogenet 2009 Mar;189(2):87-92. doi: 10.1016/j.cancergencyto.2008.10.012. PMID: 19215788

Clinical prediction guides

All-trans retinoic acid induces differentiation in primary acute myeloid leukemia blasts carrying an inversion of chromosome 16.
Dembitz V, Lalic H, Tomic B, Smoljo T, Batinic J, Dubravcic K, Batinic D, Bedalov A, Visnjic D
Int J Hematol 2022 Jan;115(1):43-53. Epub 2021 Sep 21 doi: 10.1007/s12185-021-03224-5. PMID: 34546543
Environmental and chemotherapeutic agents induce breakage at genes involved in leukemia-causing gene rearrangements in human hematopoietic stem/progenitor cells.
Thys RG, Lehman CE, Pierce LC, Wang YH
Mutat Res 2015 Sep;779:86-95. Epub 2015 Jun 27 doi: 10.1016/j.mrfmmm.2015.06.011. PMID: 26163765Free PMC Article
Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits.
Park TS, Lee ST, Song J, Lee KA, Lee JH, Kim J, Lee HJ, Han JH, Kim JK, Cho SR, Choi JR
Cancer Genet Cytogenet 2009 Mar;189(2):87-92. doi: 10.1016/j.cancergencyto.2008.10.012. PMID: 19215788
Minimally differentiated acute myeloid leukemia (AML M0): clinico-biological findings of 29 cases.
Cascavilla N, Melillo L, D'Arena G, Greco MM, Carella AM, Sajeva MR, Perla G, Matera R, Minervini MM, Carotenuto M
Leuk Lymphoma 2000 Mar;37(1-2):105-13. doi: 10.3109/10428190009057633. PMID: 10721774
Inversion of chromosome 16 and uncommon rearrangements of the CBFB and MYH11 genes in therapy-related acute myeloid leukemia: rare events related to DNA-topoisomerase II inhibitors?
Dissing M, Le Beau MM, Pedersen-Bjergaard J
J Clin Oncol 1998 May;16(5):1890-6. doi: 10.1200/JCO.1998.16.5.1890. PMID: 9586906

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