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Rearrangement of 3q

MedGen UID:
437664
•Concept ID:
C2699014
•
Cell or Molecular Dysfunction

Professional guidelines

PubMed

Azacitidine treatment for patients with myelodysplastic syndrome and acute myeloid leukemia with chromosome 3q abnormalities.
Wanquet A, Prebet T, Berthon C, Sebert M, Roux C, Kulasekararaj A, Micol JB, Esterni B, Itzykson R, Thepot S, Recher C, Delaunay J, Dreyfus F, Mufti G, Fenaux P, Vey N
Am J Hematol 2015 Oct;90(10):859-63. Epub 2015 Jul 14 doi: 10.1002/ajh.24099. PMID: 26113240
Cytogenetics of childhood acute myeloid leukemia: United Kingdom Medical Research Council Treatment trials AML 10 and 12.
Harrison CJ, Hills RK, Moorman AV, Grimwade DJ, Hann I, Webb DK, Wheatley K, de Graaf SS, van den Berg E, Burnett AK, Gibson BE
J Clin Oncol 2010 Jun 1;28(16):2674-81. Epub 2010 May 3 doi: 10.1200/JCO.2009.24.8997. PMID: 20439644
Opportunities to improve the prevention and treatment of cervical cancer.
Roden RB, Monie A, Wu TC
Curr Mol Med 2007 Aug;7(5):490-503. doi: 10.2174/156652407781387127. PMID: 17691964

Recent clinical studies

Etiology

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.
Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA
Eur J Med Genet 2023 Jun;66(6):104748. Epub 2023 Mar 21 doi: 10.1016/j.ejmg.2023.104748. PMID: 36948288
Identification of therapeutic targets of the hijacked super-enhancer complex in EVI1-rearranged leukemia.
Kiehlmeier S, Rafiee MR, Bakr A, Mika J, Kruse S, Müller J, Schweiggert S, Herrmann C, Sigismondo G, Schmezer P, Krijgsveld J, Gröschel S
Leukemia 2021 Nov;35(11):3127-3138. Epub 2021 Apr 28 doi: 10.1038/s41375-021-01235-z. PMID: 33911178Free PMC Article
Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
Suzuki M, Katayama S, Yamamoto M
IUBMB Life 2020 Jan;72(1):159-169. Epub 2019 Dec 9 doi: 10.1002/iub.2191. PMID: 31820561
Review: Aberrant EVI1 expression in acute myeloid leukaemia.
Hinai AA, Valk PJ
Br J Haematol 2016 Mar;172(6):870-8. Epub 2016 Jan 5 doi: 10.1111/bjh.13898. PMID: 26729571
The complex landscape of genetic alterations in mantle cell lymphoma.
Royo C, Salaverria I, Hartmann EM, Rosenwald A, Campo E, Beà S
Semin Cancer Biol 2011 Nov;21(5):322-34. Epub 2011 Sep 18 doi: 10.1016/j.semcancer.2011.09.007. PMID: 21945515

Diagnosis

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.
Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA
Eur J Med Genet 2023 Jun;66(6):104748. Epub 2023 Mar 21 doi: 10.1016/j.ejmg.2023.104748. PMID: 36948288
High frequency of BCL2 gene rearrangement-negative follicular lymphoma in northwestern Italy.
Magnoli F, Marchiori D, Facchi S, Martin V, Campiotti L, Merli M, Sessa F, Tibiletti MG, Uccella S
Cancer Genet 2023 Jun;274-275:1-9. Epub 2023 Mar 6 doi: 10.1016/j.cancergen.2023.03.001. PMID: 36917896
Identification of therapeutic targets of the hijacked super-enhancer complex in EVI1-rearranged leukemia.
Kiehlmeier S, Rafiee MR, Bakr A, Mika J, Kruse S, Müller J, Schweiggert S, Herrmann C, Sigismondo G, Schmezer P, Krijgsveld J, Gröschel S
Leukemia 2021 Nov;35(11):3127-3138. Epub 2021 Apr 28 doi: 10.1038/s41375-021-01235-z. PMID: 33911178Free PMC Article
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
Cytogenetics of melanoma and nonmelanoma skin cancer.
Carless MA, Griffiths LR
Adv Exp Med Biol 2014;810:160-81. doi: 10.1007/978-1-4939-0437-2_9. PMID: 25207365

Therapy

Copy-number variations in adult patients with chronic immune thrombocytopenia.
Yucesan E, Hatirnaz Ng O, Yalniz FF, Yilmaz H, Salihoglu A, Sudutan T, Eskazan AE, Ongoren S, Baslar Z, Soysal T, Ozbek U, Sayitoglu M, Ar MC
Expert Rev Hematol 2020 Nov;13(11):1277-1287. Epub 2020 Sep 23 doi: 10.1080/17474086.2020.1819786. PMID: 32885695
Azacitidine treatment for patients with myelodysplastic syndrome and acute myeloid leukemia with chromosome 3q abnormalities.
Wanquet A, Prebet T, Berthon C, Sebert M, Roux C, Kulasekararaj A, Micol JB, Esterni B, Itzykson R, Thepot S, Recher C, Delaunay J, Dreyfus F, Mufti G, Fenaux P, Vey N
Am J Hematol 2015 Oct;90(10):859-63. Epub 2015 Jul 14 doi: 10.1002/ajh.24099. PMID: 26113240
Biology of HPV in HIV infection.
Palefsky J
Adv Dent Res 2006 Apr 1;19(1):99-105. doi: 10.1177/154407370601900120. PMID: 16672559
Multipoint interphase FISH analysis of chromosome 3 abnormalities in 28 childhood AML patients.
Haltrich I, Kost-Alimova M, Kovács G, Klein G, Fekete G, Imreh S
Eur J Haematol 2006 Feb;76(2):124-33. doi: 10.1111/j.1600-0609.2005.00576.x. PMID: 16405433
Regional cancer cytogenetics: a report on 1,143 diagnostic cases.
Perkins D, Brennan S, Carstairs K, Bailey D, Pantalony D, Poon A, Fernandes B, Dubé I
Cancer Genet Cytogenet 1997 Jul 1;96(1):64-80. doi: 10.1016/s0165-4608(96)00363-9. PMID: 9209473

Prognosis

Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
Suzuki M, Katayama S, Yamamoto M
IUBMB Life 2020 Jan;72(1):159-169. Epub 2019 Dec 9 doi: 10.1002/iub.2191. PMID: 31820561
Review: Aberrant EVI1 expression in acute myeloid leukaemia.
Hinai AA, Valk PJ
Br J Haematol 2016 Mar;172(6):870-8. Epub 2016 Jan 5 doi: 10.1111/bjh.13898. PMID: 26729571
The complex landscape of genetic alterations in mantle cell lymphoma.
Royo C, Salaverria I, Hartmann EM, Rosenwald A, Campo E, Beà S
Semin Cancer Biol 2011 Nov;21(5):322-34. Epub 2011 Sep 18 doi: 10.1016/j.semcancer.2011.09.007. PMID: 21945515
Acute leukemia with structural rearrangements of chromosome 3.
Horsman DE, Gascoyne RD, Barnett MJ
Leuk Lymphoma 1995 Feb;16(5-6):369-77. doi: 10.3109/10428199509054422. PMID: 7787746
The value of molecular genetic analysis in the diagnosis and prognosis of renal cell tumours.
Kovacs G
World J Urol 1994;12(2):64-8. doi: 10.1007/BF00184238. PMID: 8087142

Clinical prediction guides

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.
Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA
Eur J Med Genet 2023 Jun;66(6):104748. Epub 2023 Mar 21 doi: 10.1016/j.ejmg.2023.104748. PMID: 36948288
High frequency of BCL2 gene rearrangement-negative follicular lymphoma in northwestern Italy.
Magnoli F, Marchiori D, Facchi S, Martin V, Campiotti L, Merli M, Sessa F, Tibiletti MG, Uccella S
Cancer Genet 2023 Jun;274-275:1-9. Epub 2023 Mar 6 doi: 10.1016/j.cancergen.2023.03.001. PMID: 36917896
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
Retrospective evaluation of the clinical and laboratory data from 300 patients of various hematological malignancies with chromosome 3 abnormalities.
Liu D, Zhang Y, Chen S, Pan J, He X, Liang J, Chen Z
Cancer Genet 2015 Jun;208(6):333-40. Epub 2015 Apr 9 doi: 10.1016/j.cancergen.2015.03.013. PMID: 26032184
The complex landscape of genetic alterations in mantle cell lymphoma.
Royo C, Salaverria I, Hartmann EM, Rosenwald A, Campo E, Beà S
Semin Cancer Biol 2011 Nov;21(5):322-34. Epub 2011 Sep 18 doi: 10.1016/j.semcancer.2011.09.007. PMID: 21945515

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